Incidental Mutation 'R0646:Ptprd'
ID |
57127 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptprd
|
Ensembl Gene |
ENSMUSG00000028399 |
Gene Name |
protein tyrosine phosphatase receptor type D |
Synonyms |
1110002J03Rik, B230219D21Rik, 3000002J10Rik |
MMRRC Submission |
038831-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0646 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
75859475-78130198 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76002640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 699
(T699A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050757]
[ENSMUST00000098005]
[ENSMUST00000102834]
[ENSMUST00000107289]
[ENSMUST00000173376]
[ENSMUST00000174831]
[ENSMUST00000173662]
[ENSMUST00000174180]
[ENSMUST00000174531]
[ENSMUST00000174023]
[ENSMUST00000212365]
|
AlphaFold |
Q64487 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050757
AA Change: T689A
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000058466 Gene: ENSMUSG00000028399 AA Change: T689A
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 |
probably benign
Transcript: ENSMUST00000098005
AA Change: T699A
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000095614 Gene: ENSMUSG00000028399 AA Change: T699A
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 |
probably benign
Transcript: ENSMUST00000102834
AA Change: T452A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000099898 Gene: ENSMUSG00000028399 AA Change: T452A
Domain | Start | End | E-Value | Type |
IGc2
|
1 |
62 |
8.13e-4 |
SMART |
FN3
|
76 |
155 |
7.92e-14 |
SMART |
FN3
|
171 |
254 |
5.73e-11 |
SMART |
IG_like
|
262 |
356 |
8.34e1 |
SMART |
FN3
|
269 |
347 |
9.1e-14 |
SMART |
FN3
|
360 |
437 |
1.21e0 |
SMART |
transmembrane domain
|
610 |
632 |
N/A |
INTRINSIC |
low complexity region
|
633 |
645 |
N/A |
INTRINSIC |
PTPc
|
698 |
956 |
6.38e-134 |
SMART |
PTPc
|
985 |
1247 |
9.17e-135 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107289
AA Change: T1110A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000102910 Gene: ENSMUSG00000028399 AA Change: T1110A
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: T706A
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000133468 Gene: ENSMUSG00000028399 AA Change: T706A
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 |
noncoding transcript
Transcript: ENSMUST00000173560
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174831
AA Change: T699A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000133328 Gene: ENSMUSG00000028399 AA Change: T699A
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: ENSMUST00000173662
AA Change: T261A
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000133832 Gene: ENSMUSG00000028399 AA Change: T261A
Domain | Start | End | E-Value | Type |
Blast:FN3
|
1 |
54 |
4e-31 |
BLAST |
SCOP:d1cfb_2
|
1 |
66 |
8e-4 |
SMART |
PDB:2DN7|A
|
1 |
67 |
7e-17 |
PDB |
FN3
|
69 |
153 |
4.12e-12 |
SMART |
FN3
|
169 |
246 |
1.8e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174180
AA Change: T1088A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000133973 Gene: ENSMUSG00000028399 AA Change: T1088A
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: ENSMUST00000174531
AA Change: T693A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000134229 Gene: ENSMUSG00000028399 AA Change: T693A
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: ENSMUST00000174023
AA Change: T696A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000133562 Gene: ENSMUSG00000028399 AA Change: T696A
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212365
AA Change: T19A
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
Meta Mutation Damage Score |
0.0863 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
95% (123/130) |
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: 125 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
C |
T |
7: 29,260,710 (GRCm39) |
|
noncoding transcript |
Het |
Abcb11 |
A |
G |
2: 69,115,627 (GRCm39) |
I579T |
probably damaging |
Het |
Abcc9 |
T |
C |
6: 142,627,830 (GRCm39) |
N400S |
probably benign |
Het |
Adarb2 |
T |
C |
13: 8,781,855 (GRCm39) |
L577P |
probably damaging |
Het |
Agt |
A |
C |
8: 125,283,852 (GRCm39) |
N422K |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,990,766 (GRCm39) |
K4017* |
probably null |
Het |
Akap13 |
C |
A |
7: 75,397,494 (GRCm39) |
Q2575K |
probably damaging |
Het |
Aldh3a2 |
A |
T |
11: 61,144,541 (GRCm39) |
I339K |
probably damaging |
Het |
Alox15 |
G |
T |
11: 70,236,450 (GRCm39) |
Y483* |
probably null |
Het |
Ampd1 |
A |
T |
3: 103,006,913 (GRCm39) |
I713F |
probably damaging |
Het |
Amph |
A |
T |
13: 19,297,286 (GRCm39) |
E344V |
possibly damaging |
Het |
Arhgef18 |
T |
C |
8: 3,436,959 (GRCm39) |
Y250H |
probably damaging |
Het |
Arid5b |
A |
G |
10: 67,932,807 (GRCm39) |
S1032P |
probably damaging |
Het |
Armc8 |
C |
A |
9: 99,387,741 (GRCm39) |
L393F |
probably damaging |
Het |
Bpnt1 |
A |
G |
1: 185,077,623 (GRCm39) |
|
probably null |
Het |
Cachd1 |
G |
A |
4: 100,845,418 (GRCm39) |
R970H |
probably damaging |
Het |
Cd207 |
T |
C |
6: 83,652,738 (GRCm39) |
T131A |
probably benign |
Het |
Cd83 |
G |
A |
13: 43,951,009 (GRCm39) |
V54I |
probably benign |
Het |
Cfap43 |
T |
C |
19: 47,752,115 (GRCm39) |
K1086E |
probably benign |
Het |
Cfap65 |
A |
T |
1: 74,941,328 (GRCm39) |
V1837E |
probably benign |
Het |
Clcnka |
T |
A |
4: 141,123,917 (GRCm39) |
H89L |
probably benign |
Het |
Cnga4 |
T |
C |
7: 105,054,182 (GRCm39) |
I50T |
possibly damaging |
Het |
Cog5 |
A |
G |
12: 31,887,358 (GRCm39) |
|
probably benign |
Het |
Col11a2 |
T |
A |
17: 34,278,322 (GRCm39) |
|
probably null |
Het |
Col28a1 |
T |
G |
6: 8,175,291 (GRCm39) |
I186L |
possibly damaging |
Het |
Col4a2 |
T |
A |
8: 11,481,252 (GRCm39) |
M808K |
probably benign |
Het |
Copb2 |
A |
G |
9: 98,445,528 (GRCm39) |
|
probably benign |
Het |
Dbnl |
G |
A |
11: 5,745,441 (GRCm39) |
|
probably benign |
Het |
Dbx2 |
T |
C |
15: 95,552,493 (GRCm39) |
T51A |
possibly damaging |
Het |
Dcp1a |
A |
T |
14: 30,224,842 (GRCm39) |
M123L |
probably damaging |
Het |
Ddx42 |
T |
A |
11: 106,123,659 (GRCm39) |
F217I |
probably benign |
Het |
Dlc1 |
T |
C |
8: 37,325,205 (GRCm39) |
T367A |
probably benign |
Het |
Dmgdh |
A |
T |
13: 93,888,863 (GRCm39) |
T834S |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,903,147 (GRCm39) |
S929P |
probably damaging |
Het |
Dnase1l2 |
C |
A |
17: 24,660,056 (GRCm39) |
V271L |
possibly damaging |
Het |
Dsc1 |
T |
C |
18: 20,229,114 (GRCm39) |
Y392C |
probably damaging |
Het |
Edn1 |
T |
C |
13: 42,458,718 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
G |
A |
11: 104,611,327 (GRCm39) |
D390N |
probably benign |
Het |
Eps8l3 |
T |
C |
3: 107,792,126 (GRCm39) |
L351P |
probably damaging |
Het |
F12 |
G |
A |
13: 55,570,296 (GRCm39) |
|
probably benign |
Het |
Fam47e |
T |
C |
5: 92,726,317 (GRCm39) |
|
probably benign |
Het |
Fcrl5 |
C |
A |
3: 87,349,320 (GRCm39) |
Q32K |
probably benign |
Het |
Fndc1 |
C |
T |
17: 7,960,505 (GRCm39) |
V1637I |
possibly damaging |
Het |
Foxg1 |
G |
T |
12: 49,431,350 (GRCm39) |
|
probably benign |
Het |
Frrs1 |
A |
T |
3: 116,696,070 (GRCm39) |
I530F |
possibly damaging |
Het |
Galnt5 |
A |
T |
2: 57,889,097 (GRCm39) |
K232N |
probably benign |
Het |
Ggt5 |
G |
A |
10: 75,438,482 (GRCm39) |
V68M |
probably damaging |
Het |
Gm16519 |
T |
C |
17: 71,236,101 (GRCm39) |
C17R |
probably benign |
Het |
Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
Gm9631 |
T |
G |
11: 121,836,455 (GRCm39) |
D28A |
probably damaging |
Het |
Gpx2 |
T |
C |
12: 76,842,087 (GRCm39) |
I21M |
probably benign |
Het |
H2-Q2 |
T |
G |
17: 35,564,661 (GRCm39) |
D354E |
probably damaging |
Het |
Icam2 |
A |
T |
11: 106,271,717 (GRCm39) |
I71K |
probably damaging |
Het |
Il12a |
T |
C |
3: 68,605,223 (GRCm39) |
|
probably benign |
Het |
Insm2 |
C |
G |
12: 55,647,225 (GRCm39) |
A323G |
probably benign |
Het |
Itga1 |
T |
C |
13: 115,104,835 (GRCm39) |
T1064A |
probably benign |
Het |
Itgad |
T |
A |
7: 127,773,176 (GRCm39) |
V11E |
possibly damaging |
Het |
Kctd15 |
C |
T |
7: 34,344,306 (GRCm39) |
S115N |
probably damaging |
Het |
Klra5 |
A |
G |
6: 129,880,527 (GRCm39) |
W124R |
probably damaging |
Het |
Kng2 |
T |
A |
16: 22,806,486 (GRCm39) |
D571V |
probably benign |
Het |
Kpna6 |
A |
T |
4: 129,544,583 (GRCm39) |
F380I |
probably benign |
Het |
Lipo3 |
A |
T |
19: 33,762,169 (GRCm39) |
Y109* |
probably null |
Het |
Lrrc37 |
T |
A |
11: 103,503,986 (GRCm39) |
K485* |
probably null |
Het |
Man2a2 |
T |
C |
7: 80,012,945 (GRCm39) |
H540R |
possibly damaging |
Het |
Map2k4 |
T |
C |
11: 65,603,101 (GRCm39) |
E188G |
probably damaging |
Het |
Mast4 |
T |
C |
13: 102,895,252 (GRCm39) |
|
probably benign |
Het |
Mbtd1 |
A |
G |
11: 93,796,038 (GRCm39) |
D25G |
probably damaging |
Het |
Med13 |
T |
A |
11: 86,221,915 (GRCm39) |
Q238L |
possibly damaging |
Het |
Mmachc |
A |
G |
4: 116,560,851 (GRCm39) |
Y215H |
probably damaging |
Het |
Mtor |
T |
A |
4: 148,568,811 (GRCm39) |
Y1110* |
probably null |
Het |
Nek2 |
A |
G |
1: 191,554,331 (GRCm39) |
N57D |
probably damaging |
Het |
Nek7 |
ACCCC |
ACCC |
1: 138,443,431 (GRCm39) |
|
probably null |
Het |
Neo1 |
G |
T |
9: 58,838,317 (GRCm39) |
T489K |
probably damaging |
Het |
Neu1 |
T |
A |
17: 35,153,736 (GRCm39) |
Y387N |
probably damaging |
Het |
Nfasc |
A |
T |
1: 132,536,176 (GRCm39) |
C586* |
probably null |
Het |
Nle1 |
G |
A |
11: 82,795,671 (GRCm39) |
L259F |
probably damaging |
Het |
Nrde2 |
G |
A |
12: 100,110,105 (GRCm39) |
Q309* |
probably null |
Het |
Nufip2 |
C |
T |
11: 77,577,279 (GRCm39) |
H76Y |
probably benign |
Het |
Or10ak16 |
A |
C |
4: 118,750,687 (GRCm39) |
T136P |
probably damaging |
Het |
Or2y13 |
A |
T |
11: 49,415,405 (GRCm39) |
N285I |
probably damaging |
Het |
Or4k6 |
A |
T |
14: 50,476,096 (GRCm39) |
I82N |
probably damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,018 (GRCm39) |
I307N |
probably benign |
Het |
Or52r1c |
T |
C |
7: 102,735,358 (GRCm39) |
F206S |
probably damaging |
Het |
Or9s18 |
A |
T |
13: 65,300,877 (GRCm39) |
I280F |
probably damaging |
Het |
Pcdhb5 |
A |
G |
18: 37,454,675 (GRCm39) |
T352A |
probably benign |
Het |
Pcdhb7 |
A |
T |
18: 37,476,442 (GRCm39) |
D526V |
probably damaging |
Het |
Phkg1 |
A |
T |
5: 129,893,394 (GRCm39) |
|
probably null |
Het |
Plg |
C |
T |
17: 12,637,623 (GRCm39) |
T744M |
probably damaging |
Het |
Plxnd1 |
A |
C |
6: 115,935,660 (GRCm39) |
|
probably benign |
Het |
Poglut1 |
A |
T |
16: 38,349,837 (GRCm39) |
I312N |
probably damaging |
Het |
Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
Ppt1 |
A |
G |
4: 122,737,892 (GRCm39) |
M77V |
probably benign |
Het |
Pramel26 |
A |
C |
4: 143,539,155 (GRCm39) |
S113A |
possibly damaging |
Het |
Pramel5 |
G |
T |
4: 143,998,190 (GRCm39) |
T351N |
probably damaging |
Het |
Psmb4 |
G |
A |
3: 94,792,275 (GRCm39) |
R216C |
probably benign |
Het |
Retreg3 |
A |
T |
11: 100,989,455 (GRCm39) |
|
probably benign |
Het |
Sanbr |
C |
T |
11: 23,525,491 (GRCm39) |
R716H |
probably damaging |
Het |
Scaper |
G |
A |
9: 55,665,340 (GRCm39) |
A389V |
probably damaging |
Het |
Serinc5 |
G |
A |
13: 92,825,245 (GRCm39) |
D225N |
possibly damaging |
Het |
Slco1a1 |
T |
G |
6: 141,871,480 (GRCm39) |
|
probably benign |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Sod3 |
A |
T |
5: 52,525,421 (GRCm39) |
D40V |
probably benign |
Het |
Sorcs3 |
C |
A |
19: 48,194,734 (GRCm39) |
A39E |
probably benign |
Het |
Spon1 |
A |
T |
7: 113,639,056 (GRCm39) |
T761S |
probably benign |
Het |
Syde2 |
A |
G |
3: 145,720,004 (GRCm39) |
|
probably null |
Het |
Synm |
T |
A |
7: 67,408,916 (GRCm39) |
D154V |
probably benign |
Het |
Synpo2 |
T |
C |
3: 122,908,098 (GRCm39) |
E406G |
probably damaging |
Het |
Tcea3 |
T |
A |
4: 135,975,382 (GRCm39) |
L8* |
probably null |
Het |
Tec |
G |
A |
5: 72,980,840 (GRCm39) |
L33F |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,072,354 (GRCm39) |
S2634T |
possibly damaging |
Het |
Tg |
T |
A |
15: 66,601,475 (GRCm39) |
Y162N |
probably damaging |
Het |
Tmem8b |
G |
A |
4: 43,690,123 (GRCm39) |
V853I |
probably benign |
Het |
Togaram1 |
A |
G |
12: 65,068,240 (GRCm39) |
K1748E |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,728,822 (GRCm39) |
|
probably benign |
Het |
Usp36 |
C |
T |
11: 118,163,847 (GRCm39) |
D234N |
probably damaging |
Het |
Usp40 |
G |
A |
1: 87,906,244 (GRCm39) |
P664S |
probably benign |
Het |
Vmn1r54 |
T |
A |
6: 90,246,635 (GRCm39) |
L183H |
probably benign |
Het |
Vmn1r58 |
T |
G |
7: 5,413,676 (GRCm39) |
I185L |
probably benign |
Het |
Wnt8a |
A |
T |
18: 34,680,618 (GRCm39) |
R328W |
probably benign |
Het |
Yars1 |
A |
G |
4: 129,107,732 (GRCm39) |
|
probably benign |
Het |
Zbtb49 |
A |
C |
5: 38,358,018 (GRCm39) |
M745R |
probably damaging |
Het |
Zeb1 |
T |
G |
18: 5,759,027 (GRCm39) |
F162V |
probably damaging |
Het |
Zfp369 |
A |
T |
13: 65,445,362 (GRCm39) |
H835L |
probably damaging |
Het |
Zic5 |
A |
G |
14: 122,701,351 (GRCm39) |
V460A |
unknown |
Het |
Zp3 |
A |
G |
5: 136,013,210 (GRCm39) |
N181D |
possibly 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 |
|
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 |
R4785:Ptprd
|
UTSW |
4 |
76,058,790 (GRCm39) |
missense |
probably benign |
0.05 |
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'- TGAGCCTACACAGGAGAATCTTCCAT -3'
(R):5'- TGAGAGGCTGAAAGCAATTTGTGACT -3'
Sequencing Primer
(F):5'- GGAGAATCTTCCATGTTATAGTCAGC -3'
(R):5'- AGCAATTTGTGACTGATTGTATCTC -3'
|
Posted On |
2013-07-11 |