Incidental Mutation 'R7748:Ptprd'
| ID |
596976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprd
|
| Ensembl Gene |
ENSMUSG00000028399 |
| Gene Name |
protein tyrosine phosphatase receptor type D |
| Synonyms |
1110002J03Rik, B230219D21Rik, 3000002J10Rik |
| MMRRC Submission |
045804-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7748 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
75859475-78130198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76017741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 744
(I744V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050757]
[ENSMUST00000098005]
[ENSMUST00000102834]
[ENSMUST00000107289]
[ENSMUST00000173376]
[ENSMUST00000174023]
[ENSMUST00000174180]
[ENSMUST00000174531]
[ENSMUST00000174831]
|
| AlphaFold |
Q64487 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000050757
|
| SMART Domains |
Protein: ENSMUSP00000058466
Gene: ENSMUSG00000028399
| 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 null
Transcript: ENSMUST00000098005
|
| SMART Domains |
Protein: ENSMUSP00000095614
Gene: ENSMUSG00000028399
| 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 null
Transcript: ENSMUST00000102834
|
| SMART Domains |
Protein: ENSMUSP00000099898
Gene: ENSMUSG00000028399
| 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 null
Transcript: ENSMUST00000107289
AA Change: I744V
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102910
Gene: ENSMUSG00000028399
AA Change: I744V
| 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: ENSMUST00000172811
|
| SMART Domains |
Protein: ENSMUSP00000134190
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
1 |
73 |
1.29e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173376
|
| SMART Domains |
Protein: ENSMUSP00000133468
Gene: ENSMUSG00000028399
| 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 null
Transcript: ENSMUST00000174023
|
| SMART Domains |
Protein: ENSMUSP00000133562
Gene: ENSMUSG00000028399
| 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 null
Transcript: ENSMUST00000174180
AA Change: I731V
PolyPhen 2
Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000133973
Gene: ENSMUSG00000028399
AA Change: I731V
| 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 null
Transcript: ENSMUST00000174531
|
| SMART Domains |
Protein: ENSMUSP00000134229
Gene: ENSMUSG00000028399
| 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 null
Transcript: ENSMUST00000174831
|
| SMART Domains |
Protein: ENSMUSP00000133328
Gene: ENSMUSG00000028399
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 111 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
T |
A |
7: 130,963,521 (GRCm39) |
L103F |
probably benign |
Het |
| 5330417H12Rik |
A |
G |
7: 107,223,765 (GRCm39) |
L103P |
unknown |
Het |
| Actb |
T |
C |
5: 142,890,450 (GRCm39) |
I151V |
probably benign |
Het |
| Adcy6 |
T |
A |
15: 98,502,437 (GRCm39) |
H59L |
probably benign |
Het |
| Adss2 |
G |
C |
1: 177,599,768 (GRCm39) |
S272* |
probably null |
Het |
| Aga |
A |
T |
8: 53,964,840 (GRCm39) |
M1L |
possibly damaging |
Het |
| Ajm1 |
T |
A |
2: 25,468,971 (GRCm39) |
E313D |
possibly damaging |
Het |
| Anxa5 |
G |
A |
3: 36,519,480 (GRCm39) |
T3M |
probably damaging |
Het |
| Arhgap45 |
A |
T |
10: 79,852,766 (GRCm39) |
|
probably benign |
Het |
| Atp6v0a2 |
A |
T |
5: 124,793,560 (GRCm39) |
H639L |
probably benign |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| Bcl2l2 |
C |
T |
14: 55,121,836 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,013,484 (GRCm39) |
|
probably null |
Het |
| Bod1l |
A |
C |
5: 41,989,683 (GRCm39) |
S347A |
probably damaging |
Het |
| Calcoco1 |
T |
C |
15: 102,627,996 (GRCm39) |
D46G |
probably damaging |
Het |
| Camk1 |
T |
C |
6: 113,317,289 (GRCm39) |
E60G |
probably damaging |
Het |
| Capza1 |
A |
T |
3: 104,732,721 (GRCm39) |
|
probably null |
Het |
| Ccdc18 |
T |
A |
5: 108,296,907 (GRCm39) |
|
probably null |
Het |
| Cdh20 |
G |
A |
1: 104,869,024 (GRCm39) |
A172T |
probably damaging |
Het |
| Cdk4 |
C |
T |
10: 126,900,298 (GRCm39) |
A65V |
possibly damaging |
Het |
| Cftr |
T |
C |
6: 18,277,888 (GRCm39) |
|
probably null |
Het |
| Chd3 |
T |
C |
11: 69,246,459 (GRCm39) |
M1092V |
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,808,539 (GRCm39) |
H1558Q |
probably benign |
Het |
| Chi3l1 |
A |
G |
1: 134,116,966 (GRCm39) |
H318R |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,178,965 (GRCm39) |
Y59C |
probably damaging |
Het |
| Cyb5r4 |
T |
C |
9: 86,914,434 (GRCm39) |
V111A |
probably damaging |
Het |
| Ddx39b |
G |
A |
17: 35,471,726 (GRCm39) |
V291M |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,572,546 (GRCm39) |
F709S |
probably damaging |
Het |
| Eef1b2 |
A |
T |
1: 63,217,024 (GRCm39) |
K64N |
probably damaging |
Het |
| Eef1ece2 |
A |
T |
16: 20,451,834 (GRCm39) |
D407V |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,068,050 (GRCm39) |
S940P |
probably benign |
Het |
| Fam234b |
T |
A |
6: 135,186,349 (GRCm39) |
V119E |
probably damaging |
Het |
| Fbxo46 |
G |
C |
7: 18,870,458 (GRCm39) |
C359S |
probably damaging |
Het |
| Fkbp14 |
C |
A |
6: 54,572,505 (GRCm39) |
|
probably benign |
Het |
| Fmn2 |
T |
A |
1: 174,494,215 (GRCm39) |
V1243E |
probably damaging |
Het |
| Fsbp |
C |
A |
4: 11,579,924 (GRCm39) |
T64K |
probably damaging |
Het |
| Fscb |
A |
T |
12: 64,521,181 (GRCm39) |
M95K |
probably benign |
Het |
| Fyb1 |
T |
G |
15: 6,668,307 (GRCm39) |
V500G |
probably damaging |
Het |
| G2e3 |
A |
G |
12: 51,418,450 (GRCm39) |
N615S |
probably benign |
Het |
| Gart |
T |
C |
16: 91,427,540 (GRCm39) |
D486G |
possibly damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,313,224 (GRCm39) |
D696V |
probably benign |
Het |
| Glmn |
C |
T |
5: 107,710,110 (GRCm39) |
|
probably null |
Het |
| Gm47985 |
A |
T |
1: 151,058,725 (GRCm39) |
D122V |
probably damaging |
Het |
| Gm7168 |
A |
G |
17: 14,168,914 (GRCm39) |
K94E |
probably benign |
Het |
| Gnai2 |
T |
C |
9: 107,492,934 (GRCm39) |
H323R |
|
Het |
| Helz2 |
C |
T |
2: 180,876,324 (GRCm39) |
R1390H |
probably damaging |
Het |
| Igf2bp1 |
T |
C |
11: 95,858,413 (GRCm39) |
M453V |
probably benign |
Het |
| Ighv3-1 |
C |
T |
12: 113,928,270 (GRCm39) |
V30M |
probably damaging |
Het |
| Inpp5a |
A |
T |
7: 139,154,911 (GRCm39) |
R343S |
probably damaging |
Het |
| Itga8 |
T |
A |
2: 12,235,050 (GRCm39) |
I403F |
possibly damaging |
Het |
| Katnip |
A |
T |
7: 125,428,973 (GRCm39) |
M558L |
probably benign |
Het |
| Krt33a |
C |
T |
11: 99,902,428 (GRCm39) |
R404H |
probably benign |
Het |
| Krt34 |
T |
A |
11: 99,929,764 (GRCm39) |
E244V |
probably damaging |
Het |
| Krt42 |
T |
C |
11: 100,157,792 (GRCm39) |
E224G |
probably damaging |
Het |
| Krtap5-2 |
TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA |
TCCACAGGAACTACA |
7: 141,728,845 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,057,585 (GRCm39) |
L553P |
|
Het |
| Lcn9 |
T |
A |
2: 25,714,926 (GRCm39) |
*179K |
probably null |
Het |
| Ldaf1 |
A |
T |
7: 119,714,702 (GRCm39) |
I64F |
possibly damaging |
Het |
| Lrrc2 |
T |
G |
9: 110,809,999 (GRCm39) |
M345R |
possibly damaging |
Het |
| Marchf11 |
T |
C |
15: 26,387,916 (GRCm39) |
V257A |
probably damaging |
Het |
| Masp2 |
T |
C |
4: 148,690,163 (GRCm39) |
I224T |
probably benign |
Het |
| Mpz |
A |
T |
1: 170,987,509 (GRCm39) |
|
probably null |
Het |
| Mtr |
C |
T |
13: 12,242,725 (GRCm39) |
A442T |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,401,542 (GRCm39) |
K596R |
unknown |
Het |
| Myo15a |
T |
G |
11: 60,395,727 (GRCm39) |
F1397C |
|
Het |
| Ncor2 |
T |
C |
5: 125,187,031 (GRCm39) |
I173V |
unknown |
Het |
| Ngly1 |
T |
A |
14: 16,290,820 (GRCm38) |
I434K |
possibly damaging |
Het |
| Notch2 |
A |
G |
3: 98,045,800 (GRCm39) |
H1655R |
possibly damaging |
Het |
| Notum |
C |
T |
11: 120,545,627 (GRCm39) |
A390T |
probably damaging |
Het |
| Or10a3n |
T |
C |
7: 108,493,285 (GRCm39) |
T115A |
probably benign |
Het |
| Or1e22 |
T |
G |
11: 73,376,994 (GRCm39) |
I219L |
probably benign |
Het |
| Pds5a |
T |
A |
5: 65,777,009 (GRCm39) |
I51F |
possibly damaging |
Het |
| Pdzd2 |
C |
A |
15: 12,385,872 (GRCm39) |
R966L |
possibly damaging |
Het |
| Plk3 |
T |
C |
4: 116,988,925 (GRCm39) |
Y278C |
probably damaging |
Het |
| Plxna1 |
C |
G |
6: 89,314,334 (GRCm39) |
|
probably null |
Het |
| Plxna1 |
T |
A |
6: 89,314,335 (GRCm39) |
|
probably null |
Het |
| Ppp4r4 |
G |
A |
12: 103,571,320 (GRCm39) |
|
probably null |
Het |
| Pramel6 |
T |
A |
2: 87,339,043 (GRCm39) |
V81E |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,862,459 (GRCm39) |
E277G |
possibly damaging |
Het |
| Prkg1 |
T |
A |
19: 30,970,491 (GRCm39) |
I222F |
possibly damaging |
Het |
| Proser3 |
A |
T |
7: 30,239,497 (GRCm39) |
S536T |
possibly damaging |
Het |
| Prrt4 |
C |
A |
6: 29,177,190 (GRCm39) |
G193V |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,655,031 (GRCm39) |
H645Q |
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,596,233 (GRCm39) |
V235A |
possibly damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rgs22 |
C |
T |
15: 36,122,415 (GRCm39) |
|
probably null |
Het |
| Rtcb |
A |
T |
10: 85,777,832 (GRCm39) |
D447E |
probably benign |
Het |
| Rtn1 |
C |
T |
12: 72,263,700 (GRCm39) |
V744I |
possibly damaging |
Het |
| Scfd1 |
T |
G |
12: 51,436,140 (GRCm39) |
I96M |
probably benign |
Het |
| Serpina3b |
T |
C |
12: 104,096,722 (GRCm39) |
M1T |
probably null |
Het |
| Slc1a4 |
T |
C |
11: 20,282,252 (GRCm39) |
Y74C |
probably damaging |
Het |
| Slc9b2 |
A |
T |
3: 135,031,940 (GRCm39) |
I267F |
possibly damaging |
Het |
| Sorcs2 |
A |
T |
5: 36,386,519 (GRCm39) |
M173K |
possibly damaging |
Het |
| Sparc |
T |
C |
11: 55,289,426 (GRCm39) |
I226V |
probably benign |
Het |
| Spata22 |
T |
G |
11: 73,227,080 (GRCm39) |
I98S |
probably null |
Het |
| Spef2 |
C |
T |
15: 9,653,031 (GRCm39) |
V917M |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,426,399 (GRCm39) |
C139* |
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,543,909 (GRCm39) |
D2012G |
probably damaging |
Het |
| Tgm5 |
G |
A |
2: 120,883,289 (GRCm39) |
R351C |
probably damaging |
Het |
| Tmem145 |
G |
A |
7: 25,006,753 (GRCm39) |
W82* |
probably null |
Het |
| Topors |
T |
A |
4: 40,262,654 (GRCm39) |
D210V |
probably damaging |
Het |
| Tssk4 |
A |
T |
14: 55,888,569 (GRCm39) |
H146L |
probably damaging |
Het |
| Unc93b1 |
T |
A |
19: 3,985,250 (GRCm39) |
D19E |
unknown |
Het |
| Usp17lc |
A |
G |
7: 103,067,688 (GRCm39) |
T328A |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,490,252 (GRCm39) |
Y43H |
probably benign |
Het |
| Vmn1r25 |
T |
A |
6: 57,955,549 (GRCm39) |
I247F |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,570,343 (GRCm39) |
Q287L |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,870,371 (GRCm39) |
I3170N |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,236,720 (GRCm39) |
M398K |
probably benign |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp773 |
T |
C |
7: 7,135,907 (GRCm39) |
R230G |
probably benign |
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 |
|
|
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 |
|
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'- AGGAGTGTCAATTTAGACCCAGAC -3'
(R):5'- TCAATGAAGCATAGTGGGTCTAC -3'
Sequencing Primer
(F):5'- GTGTCAATTTAGACCCAGACATAAAG -3'
(R):5'- GGTCTACCCATTTTTGTAAAGAAAGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation