Incidental Mutation 'R4785:Ptprd'
ID |
366930 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptprd
|
Ensembl Gene |
ENSMUSG00000028399 |
Gene Name |
protein tyrosine phosphatase receptor type D |
Synonyms |
1110002J03Rik, B230219D21Rik, 3000002J10Rik |
MMRRC Submission |
042417-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4785 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
75859475-78130198 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76058790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 168
(T168A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050757]
[ENSMUST00000098005]
[ENSMUST00000107289]
[ENSMUST00000173376]
[ENSMUST00000174531]
[ENSMUST00000174180]
[ENSMUST00000174831]
[ENSMUST00000174023]
|
AlphaFold |
Q64487 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050757
AA Change: T168A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000058466 Gene: ENSMUSG00000028399 AA Change: T168A
Domain | Start | End | E-Value | Type |
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
IGc2
|
138 |
208 |
1.38e-15 |
SMART |
IGc2
|
238 |
299 |
8.13e-4 |
SMART |
FN3
|
313 |
392 |
7.92e-14 |
SMART |
FN3
|
408 |
491 |
5.73e-11 |
SMART |
IG_like
|
499 |
593 |
8.34e1 |
SMART |
FN3
|
506 |
584 |
9.1e-14 |
SMART |
FN3
|
597 |
674 |
1.21e0 |
SMART |
transmembrane domain
|
847 |
869 |
N/A |
INTRINSIC |
low complexity region
|
870 |
882 |
N/A |
INTRINSIC |
PTPc
|
949 |
1207 |
6.38e-134 |
SMART |
PTPc
|
1236 |
1498 |
9.17e-135 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000084467
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098005
AA Change: T168A
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000095614 Gene: ENSMUSG00000028399 AA Change: T168A
Domain | Start | End | E-Value | Type |
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
IGc2
|
138 |
214 |
8.5e-16 |
SMART |
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
IGc2
|
248 |
309 |
8.13e-4 |
SMART |
FN3
|
323 |
402 |
7.92e-14 |
SMART |
FN3
|
418 |
501 |
5.73e-11 |
SMART |
IG_like
|
509 |
603 |
8.34e1 |
SMART |
FN3
|
516 |
594 |
9.1e-14 |
SMART |
FN3
|
607 |
684 |
1.21e0 |
SMART |
transmembrane domain
|
857 |
879 |
N/A |
INTRINSIC |
low complexity region
|
886 |
897 |
N/A |
INTRINSIC |
PTPc
|
950 |
1208 |
6.38e-134 |
SMART |
PTPc
|
1237 |
1499 |
9.17e-135 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107287
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107289
AA Change: T168A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000102910 Gene: ENSMUSG00000028399 AA Change: T168A
Domain | Start | End | E-Value | Type |
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
IGc2
|
138 |
214 |
8.5e-16 |
SMART |
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
IGc2
|
248 |
309 |
8.13e-4 |
SMART |
FN3
|
323 |
402 |
7.92e-14 |
SMART |
FN3
|
418 |
501 |
5.73e-11 |
SMART |
IG_like
|
509 |
603 |
8.34e1 |
SMART |
FN3
|
516 |
594 |
9.1e-14 |
SMART |
FN3
|
609 |
696 |
2.72e-12 |
SMART |
FN3
|
712 |
809 |
2.87e-11 |
SMART |
FN3
|
824 |
904 |
4.96e-6 |
SMART |
FN3
|
919 |
1003 |
4.12e-12 |
SMART |
FN3
|
1018 |
1095 |
1.95e0 |
SMART |
transmembrane domain
|
1268 |
1290 |
N/A |
INTRINSIC |
low complexity region
|
1291 |
1303 |
N/A |
INTRINSIC |
PTPc
|
1356 |
1614 |
6.38e-134 |
SMART |
PTPc
|
1643 |
1905 |
9.17e-135 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173376
AA Change: T175A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133468 Gene: ENSMUSG00000028399 AA Change: T175A
Domain | Start | End | E-Value | Type |
IGc2
|
43 |
112 |
8.57e-12 |
SMART |
IGc2
|
145 |
221 |
8.5e-16 |
SMART |
low complexity region
|
232 |
244 |
N/A |
INTRINSIC |
IGc2
|
255 |
316 |
8.13e-4 |
SMART |
FN3
|
330 |
409 |
7.92e-14 |
SMART |
FN3
|
425 |
508 |
5.73e-11 |
SMART |
IG_like
|
516 |
610 |
8.34e1 |
SMART |
FN3
|
523 |
601 |
9.1e-14 |
SMART |
FN3
|
614 |
691 |
1.21e0 |
SMART |
transmembrane domain
|
864 |
886 |
N/A |
INTRINSIC |
low complexity region
|
887 |
899 |
N/A |
INTRINSIC |
PTPc
|
952 |
1210 |
6.38e-134 |
SMART |
PTPc
|
1239 |
1501 |
9.17e-135 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174531
AA Change: T168A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000134229 Gene: ENSMUSG00000028399 AA Change: T168A
Domain | Start | End | E-Value | Type |
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
IGc2
|
138 |
208 |
1.38e-15 |
SMART |
low complexity region
|
219 |
231 |
N/A |
INTRINSIC |
IGc2
|
242 |
303 |
8.13e-4 |
SMART |
FN3
|
317 |
396 |
7.92e-14 |
SMART |
FN3
|
412 |
495 |
5.73e-11 |
SMART |
IG_like
|
503 |
597 |
8.34e1 |
SMART |
FN3
|
510 |
588 |
9.1e-14 |
SMART |
FN3
|
601 |
678 |
1.21e0 |
SMART |
transmembrane domain
|
851 |
873 |
N/A |
INTRINSIC |
low complexity region
|
874 |
886 |
N/A |
INTRINSIC |
PTPc
|
939 |
1197 |
6.38e-134 |
SMART |
PTPc
|
1226 |
1488 |
9.17e-135 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174180
AA Change: T168A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000133973 Gene: ENSMUSG00000028399 AA Change: T168A
Domain | Start | End | E-Value | Type |
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
IGc2
|
138 |
205 |
2.09e-15 |
SMART |
IGc2
|
235 |
296 |
8.13e-4 |
SMART |
FN3
|
310 |
389 |
7.92e-14 |
SMART |
FN3
|
405 |
488 |
5.73e-11 |
SMART |
IG_like
|
496 |
590 |
8.34e1 |
SMART |
FN3
|
503 |
581 |
9.1e-14 |
SMART |
FN3
|
596 |
683 |
2.72e-12 |
SMART |
FN3
|
699 |
787 |
6.15e-11 |
SMART |
FN3
|
802 |
882 |
4.96e-6 |
SMART |
FN3
|
897 |
981 |
4.12e-12 |
SMART |
FN3
|
996 |
1073 |
1.95e0 |
SMART |
transmembrane domain
|
1246 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1269 |
1281 |
N/A |
INTRINSIC |
PTPc
|
1334 |
1592 |
6.38e-134 |
SMART |
PTPc
|
1621 |
1883 |
9.17e-135 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174831
AA Change: T168A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133328 Gene: ENSMUSG00000028399 AA Change: T168A
Domain | Start | End | E-Value | Type |
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
IGc2
|
138 |
214 |
8.5e-16 |
SMART |
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
IGc2
|
248 |
309 |
8.13e-4 |
SMART |
FN3
|
323 |
402 |
7.92e-14 |
SMART |
FN3
|
418 |
501 |
5.73e-11 |
SMART |
IG_like
|
509 |
603 |
8.34e1 |
SMART |
FN3
|
516 |
594 |
9.1e-14 |
SMART |
FN3
|
607 |
684 |
1.21e0 |
SMART |
transmembrane domain
|
856 |
878 |
N/A |
INTRINSIC |
low complexity region
|
885 |
896 |
N/A |
INTRINSIC |
PTPc
|
949 |
1207 |
6.38e-134 |
SMART |
PTPc
|
1236 |
1498 |
9.17e-135 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174023
AA Change: T168A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000133562 Gene: ENSMUSG00000028399 AA Change: T168A
Domain | Start | End | E-Value | Type |
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
IGc2
|
138 |
211 |
4.88e-16 |
SMART |
low complexity region
|
222 |
234 |
N/A |
INTRINSIC |
IGc2
|
245 |
306 |
8.13e-4 |
SMART |
FN3
|
320 |
399 |
7.92e-14 |
SMART |
FN3
|
415 |
498 |
5.73e-11 |
SMART |
IG_like
|
506 |
600 |
8.34e1 |
SMART |
FN3
|
513 |
591 |
9.1e-14 |
SMART |
FN3
|
604 |
681 |
1.21e0 |
SMART |
transmembrane domain
|
853 |
875 |
N/A |
INTRINSIC |
low complexity region
|
882 |
893 |
N/A |
INTRINSIC |
PTPc
|
946 |
1204 |
6.38e-134 |
SMART |
PTPc
|
1233 |
1495 |
9.17e-135 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired learning of spatial tasks, enhanced long-term potentiation at hippocampal synapses, and high mortality associated with reduced food intake. [provided by MGI curators]
|
Allele List at MGI |
All alleles(9) : Targeted(4) Gene trapped(5)
|
Other mutations in this stock |
Total: 145 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
T |
C |
13: 59,839,406 (GRCm39) |
D13G |
probably benign |
Het |
4930442H23Rik |
C |
T |
10: 81,018,978 (GRCm39) |
|
probably benign |
Het |
Adamts13 |
T |
A |
2: 26,873,054 (GRCm39) |
S341T |
probably damaging |
Het |
Adamts2 |
A |
G |
11: 50,683,549 (GRCm39) |
I944V |
probably benign |
Het |
Adcy3 |
A |
G |
12: 4,256,542 (GRCm39) |
T783A |
probably benign |
Het |
Ago3 |
A |
T |
4: 126,262,296 (GRCm39) |
M418K |
probably benign |
Het |
Alpk1 |
G |
T |
3: 127,481,241 (GRCm39) |
N175K |
possibly damaging |
Het |
Als2 |
A |
G |
1: 59,254,472 (GRCm39) |
V295A |
probably benign |
Het |
Anapc13 |
T |
C |
9: 102,507,020 (GRCm39) |
I11T |
probably benign |
Het |
Ankrd12 |
T |
A |
17: 66,289,994 (GRCm39) |
N1813I |
probably damaging |
Het |
Anks1b |
A |
T |
10: 90,750,612 (GRCm39) |
I176F |
probably null |
Het |
Ap3d1 |
TTCTCTCTCTCTCTCTCT |
TTCTCTCTCTCTCTCT |
10: 80,548,612 (GRCm39) |
|
probably null |
Het |
Arhgap32 |
A |
G |
9: 32,040,949 (GRCm39) |
D67G |
probably damaging |
Het |
Arhgap32 |
T |
C |
9: 32,172,076 (GRCm39) |
C1619R |
probably damaging |
Het |
Atp1a4 |
A |
T |
1: 172,081,677 (GRCm39) |
Y158* |
probably null |
Het |
Atp8b5 |
A |
T |
4: 43,356,980 (GRCm39) |
D576V |
probably damaging |
Het |
Atrnl1 |
A |
G |
19: 57,617,590 (GRCm39) |
I122V |
probably damaging |
Het |
B430203G13Rik |
A |
T |
12: 17,974,520 (GRCm39) |
|
noncoding transcript |
Het |
Baz1b |
T |
G |
5: 135,246,267 (GRCm39) |
L572R |
possibly damaging |
Het |
Ccn3 |
A |
T |
15: 54,615,603 (GRCm39) |
|
probably null |
Het |
Ccnd2 |
T |
C |
6: 127,125,761 (GRCm39) |
T92A |
possibly damaging |
Het |
Ccndbp1 |
A |
T |
2: 120,839,003 (GRCm39) |
T5S |
probably benign |
Het |
Ccr2 |
G |
A |
9: 123,906,409 (GRCm39) |
V230I |
probably benign |
Het |
Cct4 |
T |
A |
11: 22,952,866 (GRCm39) |
V514E |
probably damaging |
Het |
Cep152 |
A |
G |
2: 125,428,249 (GRCm39) |
|
probably null |
Het |
Cflar |
C |
T |
1: 58,791,726 (GRCm39) |
T343M |
probably benign |
Het |
Chrm5 |
A |
C |
2: 112,309,930 (GRCm39) |
N395K |
probably benign |
Het |
Chrna10 |
G |
A |
7: 101,762,426 (GRCm39) |
P255S |
possibly damaging |
Het |
Chrna6 |
T |
A |
8: 27,897,134 (GRCm39) |
I248F |
probably damaging |
Het |
Clip1 |
T |
C |
5: 123,717,356 (GRCm39) |
D1387G |
probably damaging |
Het |
Clstn3 |
T |
C |
6: 124,414,331 (GRCm39) |
|
probably null |
Het |
Cntnap5a |
C |
T |
1: 116,029,295 (GRCm39) |
R250W |
probably benign |
Het |
Col12a1 |
C |
A |
9: 79,585,776 (GRCm39) |
V1228F |
possibly damaging |
Het |
Cxcr5 |
T |
C |
9: 44,424,638 (GRCm39) |
T340A |
probably benign |
Het |
Cyp2a4 |
G |
A |
7: 26,012,300 (GRCm39) |
R361K |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 30,985,436 (GRCm39) |
K3818N |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,567,047 (GRCm39) |
K2393M |
probably benign |
Het |
Dpy19l1 |
A |
T |
9: 24,336,119 (GRCm39) |
L529Q |
probably damaging |
Het |
Eif4g2 |
C |
T |
7: 110,676,003 (GRCm39) |
R399H |
probably damaging |
Het |
Elapor1 |
A |
T |
3: 108,365,543 (GRCm39) |
|
probably benign |
Het |
Fam76a |
A |
T |
4: 132,629,428 (GRCm39) |
|
probably null |
Het |
Fam76a |
A |
G |
4: 132,643,501 (GRCm39) |
Y78H |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,166,839 (GRCm39) |
C2026S |
probably damaging |
Het |
Fbxo4 |
T |
C |
15: 3,998,523 (GRCm39) |
T312A |
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,553,868 (GRCm39) |
V257A |
possibly damaging |
Het |
Fhip1a |
G |
T |
3: 85,595,877 (GRCm39) |
T115K |
probably damaging |
Het |
Flnb |
A |
T |
14: 7,905,701 (GRCm38) |
E1150D |
probably benign |
Het |
Fndc3c1 |
A |
T |
X: 105,481,308 (GRCm39) |
S661R |
possibly damaging |
Het |
Gba2 |
A |
C |
4: 43,568,315 (GRCm39) |
L684R |
probably damaging |
Het |
Gbf1 |
G |
T |
19: 46,256,834 (GRCm39) |
C812F |
possibly damaging |
Het |
Glt8d2 |
A |
T |
10: 82,496,583 (GRCm39) |
D158E |
probably damaging |
Het |
Golga2 |
T |
A |
2: 32,187,168 (GRCm39) |
N89K |
probably damaging |
Het |
Got1 |
A |
G |
19: 43,491,376 (GRCm39) |
I358T |
possibly damaging |
Het |
Gpx6 |
C |
T |
13: 21,496,434 (GRCm39) |
Q3* |
probably null |
Het |
Grin1 |
T |
A |
2: 25,182,393 (GRCm39) |
H956L |
possibly damaging |
Het |
Grin2d |
A |
G |
7: 45,506,205 (GRCm39) |
V562A |
probably damaging |
Het |
Grm6 |
A |
G |
11: 50,748,104 (GRCm39) |
I405V |
probably benign |
Het |
Hcar2 |
C |
G |
5: 124,002,513 (GRCm39) |
G330A |
probably benign |
Het |
Hcfc1 |
T |
C |
X: 73,009,552 (GRCm39) |
K20E |
probably damaging |
Het |
Iars1 |
T |
A |
13: 49,878,139 (GRCm39) |
Y888N |
probably damaging |
Het |
Ifi206 |
A |
T |
1: 173,308,432 (GRCm39) |
H521Q |
probably benign |
Het |
Impg1 |
A |
G |
9: 80,305,732 (GRCm39) |
S112P |
probably benign |
Het |
Incenp |
C |
A |
19: 9,855,054 (GRCm39) |
R619M |
unknown |
Het |
Incenp |
T |
A |
19: 9,855,055 (GRCm39) |
R619W |
unknown |
Het |
Kat2b |
A |
G |
17: 53,960,231 (GRCm39) |
E513G |
possibly damaging |
Het |
Kbtbd12 |
G |
T |
6: 88,595,003 (GRCm39) |
L276I |
probably damaging |
Het |
Kctd9 |
T |
A |
14: 67,971,613 (GRCm39) |
D229E |
probably damaging |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Kif2b |
G |
A |
11: 91,467,254 (GRCm39) |
P343L |
probably benign |
Het |
Kntc1 |
T |
G |
5: 123,954,825 (GRCm39) |
M2081R |
possibly damaging |
Het |
Lamc1 |
T |
C |
1: 153,107,486 (GRCm39) |
N1231S |
probably damaging |
Het |
Lclat1 |
T |
A |
17: 73,547,065 (GRCm39) |
Y327* |
probably null |
Het |
Lgals3bp |
G |
A |
11: 118,284,340 (GRCm39) |
T413I |
probably damaging |
Het |
Lin54 |
A |
G |
5: 100,607,597 (GRCm39) |
I250T |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,394,002 (GRCm39) |
N2621S |
probably benign |
Het |
Lrrtm3 |
T |
A |
10: 63,923,781 (GRCm39) |
H462L |
probably benign |
Het |
Lysmd1 |
A |
G |
3: 95,042,297 (GRCm39) |
Y57C |
probably damaging |
Het |
Mccc1 |
C |
A |
3: 36,030,022 (GRCm39) |
M429I |
probably damaging |
Het |
Metrnl |
A |
G |
11: 121,598,750 (GRCm39) |
E40G |
probably benign |
Het |
Mios |
T |
A |
6: 8,222,464 (GRCm39) |
M466K |
probably benign |
Het |
Mrgpra1 |
A |
G |
7: 46,985,218 (GRCm39) |
S154P |
probably damaging |
Het |
Mrpl24 |
T |
C |
3: 87,829,357 (GRCm39) |
|
probably null |
Het |
Myo1f |
A |
G |
17: 33,817,165 (GRCm39) |
N736S |
possibly damaging |
Het |
Myo1h |
A |
G |
5: 114,498,660 (GRCm39) |
I919V |
possibly damaging |
Het |
Nampt |
T |
C |
12: 32,898,713 (GRCm39) |
L443P |
possibly damaging |
Het |
Ndufaf2 |
C |
G |
13: 108,189,314 (GRCm39) |
A145P |
probably damaging |
Het |
Nek10 |
A |
T |
14: 14,855,714 (GRCm38) |
T403S |
probably benign |
Het |
Nme8 |
C |
A |
13: 19,842,100 (GRCm39) |
V219L |
probably damaging |
Het |
Nps |
T |
A |
7: 134,870,517 (GRCm39) |
L13Q |
probably damaging |
Het |
Nutm1 |
G |
A |
2: 112,079,281 (GRCm39) |
A878V |
probably benign |
Het |
Ogdh |
T |
C |
11: 6,299,875 (GRCm39) |
F794L |
probably damaging |
Het |
Or14a259 |
C |
A |
7: 86,012,943 (GRCm39) |
G201C |
probably damaging |
Het |
Or14c39 |
T |
C |
7: 86,343,736 (GRCm39) |
L24P |
probably damaging |
Het |
Or2t35 |
A |
C |
14: 14,407,729 (GRCm38) |
Y167S |
possibly damaging |
Het |
Or4f56 |
A |
T |
2: 111,703,395 (GRCm39) |
D268E |
possibly damaging |
Het |
Or5a3 |
A |
T |
19: 12,400,341 (GRCm39) |
I223F |
probably damaging |
Het |
Or5g29 |
A |
G |
2: 85,421,282 (GRCm39) |
T133A |
probably benign |
Het |
Pik3cg |
T |
C |
12: 32,255,198 (GRCm39) |
E263G |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,307,005 (GRCm39) |
T1798A |
probably benign |
Het |
Poldip3 |
T |
C |
15: 83,015,702 (GRCm39) |
Y305C |
probably damaging |
Het |
Prkdc |
T |
C |
16: 15,466,840 (GRCm39) |
I107T |
probably benign |
Het |
Prmt2 |
A |
G |
10: 76,062,055 (GRCm39) |
I50T |
probably damaging |
Het |
Pudp |
A |
G |
18: 50,701,136 (GRCm39) |
V199A |
probably damaging |
Het |
Rab3c |
T |
C |
13: 110,198,434 (GRCm39) |
E198G |
probably benign |
Het |
Rasl12 |
A |
G |
9: 65,320,730 (GRCm39) |
Y156C |
probably damaging |
Het |
Rbm12 |
T |
C |
2: 155,938,484 (GRCm39) |
D596G |
possibly damaging |
Het |
Rbm6 |
T |
C |
9: 107,664,551 (GRCm39) |
E694G |
probably benign |
Het |
Rif1 |
T |
C |
2: 52,002,759 (GRCm39) |
V2071A |
probably damaging |
Het |
Ripply2 |
A |
T |
9: 86,901,849 (GRCm39) |
N125I |
probably damaging |
Het |
Rps6kc1 |
A |
T |
1: 190,482,385 (GRCm39) |
H284Q |
probably benign |
Het |
Scara3 |
A |
T |
14: 66,190,950 (GRCm39) |
M1K |
probably null |
Het |
Sfswap |
A |
G |
5: 129,590,147 (GRCm39) |
T215A |
probably damaging |
Het |
Shroom2 |
A |
C |
X: 151,443,903 (GRCm39) |
F421V |
probably benign |
Het |
Sipa1l3 |
A |
G |
7: 29,077,066 (GRCm39) |
V902A |
probably damaging |
Het |
Slamf8 |
G |
T |
1: 172,411,781 (GRCm39) |
P238Q |
probably damaging |
Het |
Slc44a3 |
T |
C |
3: 121,320,723 (GRCm39) |
T93A |
possibly damaging |
Het |
Slc5a7 |
A |
T |
17: 54,585,728 (GRCm39) |
I363N |
probably damaging |
Het |
Slc66a1 |
G |
T |
4: 139,027,312 (GRCm39) |
H343Q |
probably benign |
Het |
Slc7a2 |
T |
A |
8: 41,364,095 (GRCm39) |
M436K |
probably benign |
Het |
Spindoc |
A |
G |
19: 7,351,456 (GRCm39) |
S223P |
probably benign |
Het |
Stk11ip |
T |
C |
1: 75,506,925 (GRCm39) |
F669L |
possibly damaging |
Het |
Sun3 |
G |
A |
11: 8,988,266 (GRCm39) |
L19F |
probably benign |
Het |
Sycp1 |
C |
A |
3: 102,760,805 (GRCm39) |
A703S |
possibly damaging |
Het |
Tas2r139 |
T |
G |
6: 42,118,218 (GRCm39) |
F117V |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,936,467 (GRCm39) |
Y1527C |
probably damaging |
Het |
Tenm4 |
A |
C |
7: 96,423,253 (GRCm39) |
K683Q |
probably damaging |
Het |
Tfeb |
T |
A |
17: 48,099,152 (GRCm39) |
|
probably null |
Het |
Tmco4 |
T |
C |
4: 138,725,350 (GRCm39) |
S121P |
probably damaging |
Het |
Tmprss11d |
C |
T |
5: 86,454,140 (GRCm39) |
V222M |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,893,378 (GRCm39) |
W440R |
probably damaging |
Het |
Trp53bp2 |
A |
G |
1: 182,276,562 (GRCm39) |
T848A |
probably benign |
Het |
Tssk1 |
G |
A |
16: 17,712,926 (GRCm39) |
R237H |
probably benign |
Het |
Ttll4 |
A |
T |
1: 74,718,166 (GRCm39) |
T6S |
possibly damaging |
Het |
Ttn |
G |
T |
2: 76,552,141 (GRCm39) |
Y29419* |
probably null |
Het |
Ttn |
A |
G |
2: 76,599,947 (GRCm39) |
Y19076H |
probably damaging |
Het |
Ubr3 |
T |
A |
2: 69,789,947 (GRCm39) |
V867D |
probably damaging |
Het |
Usp29 |
A |
G |
7: 6,964,390 (GRCm39) |
T78A |
probably damaging |
Het |
Utrn |
T |
G |
10: 12,530,489 (GRCm39) |
Q2108P |
probably benign |
Het |
Vcan |
T |
C |
13: 89,853,908 (GRCm39) |
N351D |
probably damaging |
Het |
Vmn1r61 |
A |
T |
7: 5,614,124 (GRCm39) |
Y63* |
probably null |
Het |
Vmn1r61 |
A |
T |
7: 5,614,126 (GRCm39) |
Y63N |
probably benign |
Het |
Vmn1r85 |
A |
T |
7: 12,818,788 (GRCm39) |
W119R |
probably damaging |
Het |
Zbtb21 |
A |
C |
16: 97,751,655 (GRCm39) |
V190G |
possibly damaging |
Het |
Zfp157 |
C |
A |
5: 138,443,051 (GRCm39) |
T14N |
probably damaging |
Het |
Zfp942 |
A |
T |
17: 22,148,400 (GRCm39) |
H76Q |
probably damaging |
Het |
|
Other mutations in Ptprd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00964:Ptprd
|
APN |
4 |
75,916,793 (GRCm39) |
nonsense |
probably null |
|
IGL01067:Ptprd
|
APN |
4 |
75,977,922 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01121:Ptprd
|
APN |
4 |
75,872,438 (GRCm39) |
splice site |
probably benign |
|
IGL01531:Ptprd
|
APN |
4 |
76,003,757 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01661:Ptprd
|
APN |
4 |
75,872,320 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01723:Ptprd
|
APN |
4 |
76,161,910 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01735:Ptprd
|
APN |
4 |
76,055,057 (GRCm39) |
splice site |
probably null |
|
IGL01810:Ptprd
|
APN |
4 |
76,058,744 (GRCm39) |
splice site |
probably benign |
|
IGL01834:Ptprd
|
APN |
4 |
76,046,832 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01835:Ptprd
|
APN |
4 |
76,165,058 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01867:Ptprd
|
APN |
4 |
76,161,884 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02582:Ptprd
|
APN |
4 |
75,865,361 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02591:Ptprd
|
APN |
4 |
75,900,287 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02741:Ptprd
|
APN |
4 |
76,051,521 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02866:Ptprd
|
APN |
4 |
75,968,674 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02960:Ptprd
|
APN |
4 |
76,047,105 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03155:Ptprd
|
APN |
4 |
75,984,456 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03230:Ptprd
|
APN |
4 |
75,968,654 (GRCm39) |
nonsense |
probably null |
|
IGL03343:Ptprd
|
APN |
4 |
75,977,966 (GRCm39) |
missense |
probably damaging |
1.00 |
unhurried
|
UTSW |
4 |
76,018,870 (GRCm39) |
nonsense |
probably null |
|
ANU22:Ptprd
|
UTSW |
4 |
76,018,693 (GRCm39) |
missense |
probably damaging |
0.99 |
F5493:Ptprd
|
UTSW |
4 |
76,002,645 (GRCm39) |
missense |
probably damaging |
1.00 |
P0033:Ptprd
|
UTSW |
4 |
76,047,091 (GRCm39) |
nonsense |
probably null |
|
R0044:Ptprd
|
UTSW |
4 |
76,004,566 (GRCm39) |
missense |
probably benign |
0.08 |
R0044:Ptprd
|
UTSW |
4 |
76,004,566 (GRCm39) |
missense |
probably benign |
0.08 |
R0076:Ptprd
|
UTSW |
4 |
75,865,276 (GRCm39) |
splice site |
probably benign |
|
R0137:Ptprd
|
UTSW |
4 |
76,055,140 (GRCm39) |
missense |
probably benign |
0.24 |
R0358:Ptprd
|
UTSW |
4 |
75,863,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R0365:Ptprd
|
UTSW |
4 |
76,055,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R0385:Ptprd
|
UTSW |
4 |
76,046,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R0601:Ptprd
|
UTSW |
4 |
76,018,711 (GRCm39) |
missense |
probably benign |
|
R0646:Ptprd
|
UTSW |
4 |
76,002,640 (GRCm39) |
missense |
probably damaging |
0.99 |
R0667:Ptprd
|
UTSW |
4 |
75,875,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R0707:Ptprd
|
UTSW |
4 |
75,875,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R0734:Ptprd
|
UTSW |
4 |
76,058,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R0827:Ptprd
|
UTSW |
4 |
76,047,152 (GRCm39) |
missense |
probably damaging |
0.98 |
R0932:Ptprd
|
UTSW |
4 |
76,055,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R1069:Ptprd
|
UTSW |
4 |
76,018,870 (GRCm39) |
nonsense |
probably null |
|
R1069:Ptprd
|
UTSW |
4 |
75,916,724 (GRCm39) |
splice site |
probably benign |
|
R1086:Ptprd
|
UTSW |
4 |
76,051,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R1439:Ptprd
|
UTSW |
4 |
75,984,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R1440:Ptprd
|
UTSW |
4 |
76,002,789 (GRCm39) |
missense |
probably damaging |
0.98 |
R1688:Ptprd
|
UTSW |
4 |
75,900,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R1858:Ptprd
|
UTSW |
4 |
75,865,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R2001:Ptprd
|
UTSW |
4 |
75,872,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R2020:Ptprd
|
UTSW |
4 |
76,051,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R2023:Ptprd
|
UTSW |
4 |
75,875,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R2413:Ptprd
|
UTSW |
4 |
76,051,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R2510:Ptprd
|
UTSW |
4 |
76,004,248 (GRCm39) |
critical splice donor site |
probably null |
|
R2914:Ptprd
|
UTSW |
4 |
75,865,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R2971:Ptprd
|
UTSW |
4 |
76,025,561 (GRCm39) |
missense |
probably benign |
0.10 |
R3051:Ptprd
|
UTSW |
4 |
76,018,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R3433:Ptprd
|
UTSW |
4 |
76,004,248 (GRCm39) |
critical splice donor site |
probably null |
|
R3964:Ptprd
|
UTSW |
4 |
75,978,073 (GRCm39) |
splice site |
probably benign |
|
R4009:Ptprd
|
UTSW |
4 |
75,874,634 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4394:Ptprd
|
UTSW |
4 |
76,046,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R4420:Ptprd
|
UTSW |
4 |
75,957,614 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4424:Ptprd
|
UTSW |
4 |
76,021,200 (GRCm39) |
missense |
probably benign |
0.22 |
R4575:Ptprd
|
UTSW |
4 |
76,162,023 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4578:Ptprd
|
UTSW |
4 |
76,162,023 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4715:Ptprd
|
UTSW |
4 |
76,025,570 (GRCm39) |
missense |
probably benign |
0.03 |
R4782:Ptprd
|
UTSW |
4 |
76,009,769 (GRCm39) |
missense |
probably benign |
0.01 |
R4799:Ptprd
|
UTSW |
4 |
76,009,769 (GRCm39) |
missense |
probably benign |
0.01 |
R4944:Ptprd
|
UTSW |
4 |
76,047,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R4950:Ptprd
|
UTSW |
4 |
76,058,752 (GRCm39) |
splice site |
probably null |
|
R4969:Ptprd
|
UTSW |
4 |
76,051,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R5153:Ptprd
|
UTSW |
4 |
75,930,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R5164:Ptprd
|
UTSW |
4 |
76,018,995 (GRCm39) |
splice site |
probably null |
|
R5287:Ptprd
|
UTSW |
4 |
75,872,405 (GRCm39) |
nonsense |
probably null |
|
R5305:Ptprd
|
UTSW |
4 |
75,900,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R5362:Ptprd
|
UTSW |
4 |
76,047,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R5403:Ptprd
|
UTSW |
4 |
75,872,405 (GRCm39) |
nonsense |
probably null |
|
R5531:Ptprd
|
UTSW |
4 |
75,977,904 (GRCm39) |
critical splice donor site |
probably null |
|
R5543:Ptprd
|
UTSW |
4 |
75,977,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R5634:Ptprd
|
UTSW |
4 |
75,990,255 (GRCm39) |
missense |
probably benign |
0.01 |
R5719:Ptprd
|
UTSW |
4 |
75,972,839 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5884:Ptprd
|
UTSW |
4 |
75,900,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R6247:Ptprd
|
UTSW |
4 |
75,984,528 (GRCm39) |
missense |
probably benign |
0.06 |
R6250:Ptprd
|
UTSW |
4 |
76,047,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R6335:Ptprd
|
UTSW |
4 |
75,872,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R6352:Ptprd
|
UTSW |
4 |
76,009,789 (GRCm39) |
splice site |
probably null |
|
R6533:Ptprd
|
UTSW |
4 |
76,046,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R6756:Ptprd
|
UTSW |
4 |
75,873,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R6782:Ptprd
|
UTSW |
4 |
76,243,377 (GRCm39) |
splice site |
probably null |
|
R7131:Ptprd
|
UTSW |
4 |
75,984,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R7170:Ptprd
|
UTSW |
4 |
75,990,199 (GRCm39) |
missense |
probably benign |
0.06 |
R7233:Ptprd
|
UTSW |
4 |
75,978,020 (GRCm39) |
missense |
probably benign |
0.00 |
R7246:Ptprd
|
UTSW |
4 |
76,046,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R7413:Ptprd
|
UTSW |
4 |
76,165,076 (GRCm39) |
missense |
probably benign |
0.00 |
R7428:Ptprd
|
UTSW |
4 |
76,004,705 (GRCm39) |
missense |
probably benign |
0.03 |
R7442:Ptprd
|
UTSW |
4 |
75,978,058 (GRCm39) |
nonsense |
probably null |
|
R7491:Ptprd
|
UTSW |
4 |
76,051,392 (GRCm39) |
missense |
probably benign |
0.23 |
R7526:Ptprd
|
UTSW |
4 |
75,984,564 (GRCm39) |
missense |
probably benign |
0.00 |
R7609:Ptprd
|
UTSW |
4 |
75,990,240 (GRCm39) |
missense |
probably benign |
0.03 |
R7612:Ptprd
|
UTSW |
4 |
76,004,696 (GRCm39) |
missense |
probably benign |
0.45 |
R7659:Ptprd
|
UTSW |
4 |
76,047,153 (GRCm39) |
missense |
probably benign |
0.03 |
R7743:Ptprd
|
UTSW |
4 |
76,004,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R7748:Ptprd
|
UTSW |
4 |
76,017,741 (GRCm39) |
missense |
probably null |
0.39 |
R7788:Ptprd
|
UTSW |
4 |
75,916,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R7836:Ptprd
|
UTSW |
4 |
75,900,881 (GRCm39) |
missense |
probably damaging |
0.99 |
R7937:Ptprd
|
UTSW |
4 |
76,013,772 (GRCm39) |
missense |
probably benign |
0.00 |
R8000:Ptprd
|
UTSW |
4 |
75,984,479 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8018:Ptprd
|
UTSW |
4 |
76,003,757 (GRCm39) |
missense |
probably damaging |
0.98 |
R8072:Ptprd
|
UTSW |
4 |
76,004,273 (GRCm39) |
missense |
probably benign |
0.01 |
R8119:Ptprd
|
UTSW |
4 |
76,047,263 (GRCm39) |
missense |
probably benign |
0.00 |
R8350:Ptprd
|
UTSW |
4 |
75,868,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R8387:Ptprd
|
UTSW |
4 |
75,873,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R8458:Ptprd
|
UTSW |
4 |
75,984,496 (GRCm39) |
missense |
probably benign |
0.00 |
R8529:Ptprd
|
UTSW |
4 |
76,047,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R8699:Ptprd
|
UTSW |
4 |
75,959,629 (GRCm39) |
missense |
probably benign |
|
R8924:Ptprd
|
UTSW |
4 |
75,916,736 (GRCm39) |
critical splice donor site |
probably null |
|
R8984:Ptprd
|
UTSW |
4 |
75,863,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R9024:Ptprd
|
UTSW |
4 |
75,874,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R9204:Ptprd
|
UTSW |
4 |
75,872,315 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9206:Ptprd
|
UTSW |
4 |
75,872,315 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9259:Ptprd
|
UTSW |
4 |
75,990,200 (GRCm39) |
missense |
probably damaging |
0.99 |
R9311:Ptprd
|
UTSW |
4 |
76,051,320 (GRCm39) |
missense |
probably benign |
0.25 |
R9417:Ptprd
|
UTSW |
4 |
75,865,335 (GRCm39) |
missense |
probably damaging |
0.99 |
R9427:Ptprd
|
UTSW |
4 |
76,051,440 (GRCm39) |
missense |
probably benign |
0.01 |
R9579:Ptprd
|
UTSW |
4 |
75,872,315 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9580:Ptprd
|
UTSW |
4 |
75,872,315 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9701:Ptprd
|
UTSW |
4 |
75,916,896 (GRCm39) |
missense |
probably damaging |
1.00 |
RF016:Ptprd
|
UTSW |
4 |
76,046,892 (GRCm39) |
missense |
probably benign |
0.01 |
RF023:Ptprd
|
UTSW |
4 |
76,046,802 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Ptprd
|
UTSW |
4 |
76,051,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGCCTCACAAACATGGAC -3'
(R):5'- GCCCAACAGTGCATGGTTAATG -3'
Sequencing Primer
(F):5'- GAAGAGGAAGATAAATCAATACCtaa -3'
(R):5'- CCCAACAGTGCATGGTTAATGTTTAG -3'
|
Posted On |
2015-12-29 |