Incidental Mutation 'R7131:Ptprd'
| ID |
552634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprd
|
| Ensembl Gene |
ENSMUSG00000028399 |
| Gene Name |
protein tyrosine phosphatase receptor type D |
| Synonyms |
1110002J03Rik, B230219D21Rik, 3000002J10Rik |
| MMRRC Submission |
045216-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7131 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
75859475-78130198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75984577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 523
(R523H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050757]
[ENSMUST00000098005]
[ENSMUST00000102834]
[ENSMUST00000107289]
[ENSMUST00000173376]
[ENSMUST00000174023]
[ENSMUST00000174180]
[ENSMUST00000174531]
[ENSMUST00000174831]
[ENSMUST00000212365]
|
| AlphaFold |
Q64487 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050757
AA Change: R760H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058466
Gene: ENSMUSG00000028399
AA Change: R760H
| 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 damaging
Transcript: ENSMUST00000098005
AA Change: R770H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095614
Gene: ENSMUSG00000028399
AA Change: R770H
| 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 damaging
Transcript: ENSMUST00000102834
AA Change: R523H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099898
Gene: ENSMUSG00000028399
AA Change: R523H
| 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 |
possibly damaging
Transcript: ENSMUST00000107289
AA Change: R1181H
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102910
Gene: ENSMUSG00000028399
AA Change: R1181H
| 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 damaging
Transcript: ENSMUST00000173376
AA Change: R777H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133468
Gene: ENSMUSG00000028399
AA Change: R777H
| 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 damaging
Transcript: ENSMUST00000174023
AA Change: R767H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133562
Gene: ENSMUSG00000028399
AA Change: R767H
| 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 |
probably benign
Transcript: ENSMUST00000174180
AA Change: R1159H
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000133973
Gene: ENSMUSG00000028399
AA Change: R1159H
| 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 damaging
Transcript: ENSMUST00000174531
AA Change: R764H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134229
Gene: ENSMUSG00000028399
AA Change: R764H
| 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 damaging
Transcript: ENSMUST00000174831
AA Change: R770H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133328
Gene: ENSMUSG00000028399
AA Change: R770H
| 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 damaging
Transcript: ENSMUST00000212365
AA Change: R90H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
G |
4: 144,396,637 (GRCm39) |
V365A |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,241,893 (GRCm39) |
N1252S |
probably benign |
Het |
| Abcc3 |
A |
T |
11: 94,255,857 (GRCm39) |
F543I |
probably damaging |
Het |
| Adam15 |
T |
A |
3: 89,254,287 (GRCm39) |
Q170L |
possibly damaging |
Het |
| Aldoc |
A |
G |
11: 78,215,282 (GRCm39) |
I19V |
possibly damaging |
Het |
| Aoc1l1 |
T |
A |
6: 48,953,306 (GRCm39) |
Y410* |
probably null |
Het |
| Atrip |
T |
C |
9: 108,889,488 (GRCm39) |
I711M |
probably benign |
Het |
| Brwd1 |
A |
C |
16: 95,867,698 (GRCm39) |
L149R |
probably damaging |
Het |
| Capn9 |
A |
T |
8: 125,303,017 (GRCm39) |
D45V |
probably damaging |
Het |
| Card9 |
G |
A |
2: 26,248,847 (GRCm39) |
R101C |
probably damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,891,785 (GRCm39) |
E759G |
probably damaging |
Het |
| Ccn1 |
T |
C |
3: 145,354,536 (GRCm39) |
D125G |
probably damaging |
Het |
| Cep250 |
T |
C |
2: 155,806,997 (GRCm39) |
M193T |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,656,966 (GRCm39) |
K3029E |
probably benign |
Het |
| Chrna9 |
G |
A |
5: 66,134,484 (GRCm39) |
G445D |
possibly damaging |
Het |
| Cluap1 |
C |
T |
16: 3,758,639 (GRCm39) |
S367L |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,819,498 (GRCm39) |
D200G |
unknown |
Het |
| Crhr2 |
T |
C |
6: 55,069,112 (GRCm39) |
N388D |
|
Het |
| Cyp2b23 |
A |
G |
7: 26,380,838 (GRCm39) |
L129P |
probably benign |
Het |
| Dctd |
A |
G |
8: 48,565,075 (GRCm39) |
S67G |
probably benign |
Het |
| Dhtkd1 |
C |
G |
2: 5,908,881 (GRCm39) |
V738L |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,970,484 (GRCm39) |
D2173N |
probably benign |
Het |
| Dnah7c |
G |
T |
1: 46,720,932 (GRCm39) |
A2819S |
probably benign |
Het |
| Dnai7 |
A |
T |
6: 145,123,132 (GRCm39) |
L578Q |
probably null |
Het |
| Dot1l |
A |
G |
10: 80,628,175 (GRCm39) |
H1071R |
unknown |
Het |
| Dync2h1 |
T |
A |
9: 7,075,786 (GRCm39) |
D3027V |
probably damaging |
Het |
| Efl1 |
A |
G |
7: 82,307,272 (GRCm39) |
Y56C |
probably damaging |
Het |
| Eif4e1b |
A |
T |
13: 54,931,913 (GRCm39) |
R29W |
probably null |
Het |
| Evc2 |
A |
G |
5: 37,567,602 (GRCm39) |
R860G |
probably damaging |
Het |
| Fbxl12 |
G |
A |
9: 20,555,679 (GRCm39) |
|
probably benign |
Het |
| Fibp |
T |
A |
19: 5,511,519 (GRCm39) |
I129N |
probably damaging |
Het |
| Folh1 |
G |
T |
7: 86,375,320 (GRCm39) |
H555Q |
probably damaging |
Het |
| Gcnt4 |
A |
T |
13: 97,083,027 (GRCm39) |
T108S |
probably damaging |
Het |
| H1f7 |
T |
A |
15: 98,154,250 (GRCm39) |
K300* |
probably null |
Het |
| Hecw2 |
A |
T |
1: 53,904,280 (GRCm39) |
V1156E |
probably damaging |
Het |
| Herc3 |
C |
G |
6: 58,864,409 (GRCm39) |
A681G |
probably damaging |
Het |
| Igkv13-84 |
T |
A |
6: 68,916,764 (GRCm39) |
C20* |
probably null |
Het |
| Iho1 |
A |
T |
9: 108,294,619 (GRCm39) |
D98E |
probably benign |
Het |
| Iqca1l |
A |
G |
5: 24,753,954 (GRCm39) |
V435A |
possibly damaging |
Het |
| Ivd |
C |
A |
2: 118,700,255 (GRCm39) |
T94K |
probably damaging |
Het |
| Kank2 |
C |
T |
9: 21,705,975 (GRCm39) |
A348T |
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,417,562 (GRCm39) |
Y889C |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,010,517 (GRCm39) |
V1272A |
probably damaging |
Het |
| Kmt2d |
GCTGCTGCT |
GCTGCTGCTCCTGCTGCT |
15: 98,747,497 (GRCm39) |
|
probably benign |
Het |
| Kmt5b |
T |
A |
19: 3,865,412 (GRCm39) |
D825E |
probably benign |
Het |
| Krt39 |
C |
T |
11: 99,411,697 (GRCm39) |
A130T |
probably benign |
Het |
| Krtap4-9 |
C |
T |
11: 99,676,283 (GRCm39) |
T68I |
unknown |
Het |
| Lmbr1l |
A |
T |
15: 98,804,204 (GRCm39) |
V365E |
probably benign |
Het |
| Lonp1 |
C |
T |
17: 56,924,814 (GRCm39) |
R531Q |
probably damaging |
Het |
| Mecom |
T |
A |
3: 30,035,094 (GRCm39) |
H194L |
probably damaging |
Het |
| Mlx |
C |
T |
11: 100,980,068 (GRCm39) |
H188Y |
probably damaging |
Het |
| Mrps10 |
T |
C |
17: 47,685,940 (GRCm39) |
S77P |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 107,962,130 (GRCm39) |
E716G |
probably null |
Het |
| Mttp |
C |
T |
3: 137,821,893 (GRCm39) |
V210I |
probably benign |
Het |
| Mug2 |
T |
C |
6: 122,052,206 (GRCm39) |
V988A |
probably damaging |
Het |
| Ndufb6 |
A |
G |
4: 40,279,336 (GRCm39) |
M1T |
probably null |
Het |
| Neurog1 |
A |
T |
13: 56,399,563 (GRCm39) |
N61K |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,784,021 (GRCm39) |
D581G |
possibly damaging |
Het |
| Nlrp4a |
C |
A |
7: 26,149,258 (GRCm39) |
N288K |
probably benign |
Het |
| Notch3 |
T |
A |
17: 32,363,191 (GRCm39) |
H1264L |
probably benign |
Het |
| Or1e25 |
A |
T |
11: 73,493,562 (GRCm39) |
D52V |
possibly damaging |
Het |
| Or1e34 |
A |
T |
11: 73,778,780 (GRCm39) |
C139* |
probably null |
Het |
| Or3a1c |
A |
G |
11: 74,046,606 (GRCm39) |
M209V |
probably benign |
Het |
| Patl2 |
A |
T |
2: 121,952,263 (GRCm39) |
|
probably null |
Het |
| Pfkfb4 |
A |
G |
9: 108,836,370 (GRCm39) |
T133A |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,135,035 (GRCm39) |
E471G |
probably null |
Het |
| Postn |
T |
C |
3: 54,270,056 (GRCm39) |
V45A |
probably damaging |
Het |
| Ppan |
T |
A |
9: 20,802,450 (GRCm39) |
V257E |
possibly damaging |
Het |
| Ptcra |
C |
G |
17: 47,074,522 (GRCm39) |
A7P |
probably damaging |
Het |
| Pycr3 |
A |
T |
15: 75,790,544 (GRCm39) |
I105N |
possibly damaging |
Het |
| Rfx1 |
C |
A |
8: 84,821,708 (GRCm39) |
Q815K |
probably damaging |
Het |
| Rfx3 |
T |
A |
19: 27,746,028 (GRCm39) |
K668* |
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,655,213 (GRCm39) |
D3661E |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,683,697 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
T |
A |
7: 128,381,364 (GRCm39) |
S974T |
probably damaging |
Het |
| Semp2l2a |
A |
T |
8: 13,886,982 (GRCm39) |
W370R |
probably damaging |
Het |
| Setbp1 |
A |
G |
18: 79,130,175 (GRCm39) |
F19S |
probably benign |
Het |
| Setd1a |
AAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAG |
7: 127,395,590 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2b |
A |
G |
11: 32,372,072 (GRCm39) |
K413R |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,454,614 (GRCm39) |
V544A |
probably damaging |
Het |
| Slc6a7 |
T |
C |
18: 61,135,274 (GRCm39) |
Y418C |
probably damaging |
Het |
| Snx19 |
T |
G |
9: 30,339,189 (GRCm39) |
I109S |
probably damaging |
Het |
| Spart |
T |
C |
3: 55,029,220 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
A |
T |
19: 4,799,488 (GRCm39) |
Q2097L |
probably null |
Het |
| Syne1 |
T |
C |
10: 5,178,221 (GRCm39) |
K4751R |
probably damaging |
Het |
| Tigit |
C |
A |
16: 43,482,615 (GRCm39) |
G40C |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,348,247 (GRCm39) |
I264K |
probably damaging |
Het |
| Tom1 |
T |
A |
8: 75,783,877 (GRCm39) |
I287N |
possibly damaging |
Het |
| Top2a |
G |
A |
11: 98,895,008 (GRCm39) |
P864L |
possibly damaging |
Het |
| Trmt44 |
A |
T |
5: 35,728,410 (GRCm39) |
V290E |
probably damaging |
Het |
| Try4 |
T |
C |
6: 41,281,337 (GRCm39) |
I93T |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,239,500 (GRCm39) |
H1147Q |
possibly damaging |
Het |
| Uspl1 |
A |
T |
5: 149,130,745 (GRCm39) |
R109S |
probably benign |
Het |
| Vav3 |
T |
A |
3: 109,571,662 (GRCm39) |
F755I |
probably damaging |
Het |
| Vezt |
A |
T |
10: 93,806,409 (GRCm39) |
Y667* |
probably null |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,140 (GRCm39) |
L258F |
possibly damaging |
Het |
| Zfp207 |
T |
C |
11: 80,286,354 (GRCm39) |
M489T |
unknown |
Het |
| Zfp462 |
A |
G |
4: 55,009,380 (GRCm39) |
T449A |
probably benign |
Het |
| Zfp956 |
C |
A |
6: 47,932,781 (GRCm39) |
Q19K |
probably benign |
Het |
| Zkscan8 |
A |
T |
13: 21,709,443 (GRCm39) |
W152R |
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 |
|
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 |
|
|
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'- CTTACAGACTCTGCATGGTCC -3'
(R):5'- CCTAAGAGGAAGCACGTATTTGC -3'
Sequencing Primer
(F):5'- AGACTCTGCATGGTCCATCACTG -3'
(R):5'- TTGCAAATCACAACGGAGTGTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation