Incidental Mutation 'R0390:Ptprc'
| ID |
31563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprc
|
| Ensembl Gene |
ENSMUSG00000026395 |
| Gene Name |
protein tyrosine phosphatase receptor type C |
| Synonyms |
Ly-5, T200, CD45, B220, Lyt-4 |
| MMRRC Submission |
038596-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0390 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
137990599-138103446 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 138050313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 36
(T36I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141524
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182283]
[ENSMUST00000182755]
[ENSMUST00000183301]
[ENSMUST00000193650]
[ENSMUST00000195533]
|
| AlphaFold |
P06800 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027645
AA Change: T34I
PolyPhen 2
Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027645
Gene: ENSMUSG00000026395
AA Change: T34I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTP_N
|
5 |
30 |
5e-16 |
PFAM |
|
low complexity region
|
109 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
203 |
N/A |
INTRINSIC |
|
Pfam:CD45
|
210 |
267 |
3.1e-20 |
PFAM |
|
FN3
|
372 |
456 |
2.28e0 |
SMART |
|
FN3
|
472 |
550 |
3.48e-1 |
SMART |
|
transmembrane domain
|
565 |
586 |
N/A |
INTRINSIC |
|
PTPc
|
639 |
901 |
7.57e-127 |
SMART |
|
PTPc
|
930 |
1216 |
1.39e-102 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182138
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182283
|
| SMART Domains |
Protein: ENSMUSP00000138800
Gene: ENSMUSG00000026395
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTP_N
|
7 |
32 |
4.2e-13 |
PFAM |
|
low complexity region
|
33 |
66 |
N/A |
INTRINSIC |
|
Pfam:CD45
|
72 |
131 |
2.3e-24 |
PFAM |
|
FN3
|
235 |
319 |
2.28e0 |
SMART |
|
FN3
|
335 |
413 |
3.48e-1 |
SMART |
|
transmembrane domain
|
428 |
449 |
N/A |
INTRINSIC |
|
PTPc
|
502 |
764 |
7.57e-127 |
SMART |
|
PTPc
|
793 |
1079 |
1.39e-102 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182755
|
| SMART Domains |
Protein: ENSMUSP00000138275
Gene: ENSMUSG00000026395
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTP_N
|
7 |
34 |
5.5e-13 |
PFAM |
|
Pfam:CD45
|
48 |
107 |
2.3e-24 |
PFAM |
|
FN3
|
211 |
295 |
2.28e0 |
SMART |
|
FN3
|
311 |
389 |
3.48e-1 |
SMART |
|
transmembrane domain
|
404 |
425 |
N/A |
INTRINSIC |
|
PTPc
|
478 |
740 |
7.57e-127 |
SMART |
|
PTPc
|
769 |
1055 |
1.39e-102 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183229
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183262
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183301
AA Change: T36I
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138350
Gene: ENSMUSG00000026395
AA Change: T36I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTP_N
|
7 |
33 |
2.7e-13 |
PFAM |
|
low complexity region
|
111 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
205 |
N/A |
INTRINSIC |
|
Pfam:CD45
|
211 |
270 |
2.1e-24 |
PFAM |
|
FN3
|
374 |
458 |
2.28e0 |
SMART |
|
FN3
|
474 |
552 |
3.48e-1 |
SMART |
|
transmembrane domain
|
567 |
588 |
N/A |
INTRINSIC |
|
PTPc
|
641 |
903 |
7.57e-127 |
SMART |
|
PTPc
|
932 |
1218 |
1.39e-102 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193650
AA Change: T36I
PolyPhen 2
Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141524
Gene: ENSMUSG00000026395
AA Change: T36I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTP_N
|
7 |
33 |
8.4e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187586
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195533
|
| SMART Domains |
Protein: ENSMUSP00000142052
Gene: ENSMUSG00000026395
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTP_N
|
7 |
33 |
7.4e-11 |
PFAM |
|
low complexity region
|
68 |
115 |
N/A |
INTRINSIC |
|
Pfam:CD45
|
121 |
180 |
2.1e-22 |
PFAM |
|
| Meta Mutation Damage Score |
0.1817 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.0%
|
| Validation Efficiency |
98% (110/112) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012]
PHENOTYPE: Homozygous null mutants have defective T cell, B cell, and NK cell morphology and physiology. Mice carrying an engineered point mutation exhibit lymphoproliferation and autoimmunity that leads to premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
C |
T |
8: 25,164,070 (GRCm39) |
G38R |
probably benign |
Het |
| Ap2m1 |
T |
C |
16: 20,359,849 (GRCm39) |
M183T |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,038,678 (GRCm39) |
I364F |
probably damaging |
Het |
| Arl6 |
A |
T |
16: 59,442,784 (GRCm39) |
|
probably benign |
Het |
| Cand2 |
A |
G |
6: 115,751,614 (GRCm39) |
M15V |
possibly damaging |
Het |
| Cbl |
A |
G |
9: 44,112,302 (GRCm39) |
F131S |
probably damaging |
Het |
| Ccdc74a |
A |
G |
16: 17,468,340 (GRCm39) |
S321G |
probably benign |
Het |
| Cdc14b |
T |
C |
13: 64,358,006 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,418,789 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,344,620 (GRCm39) |
E479G |
probably benign |
Het |
| Chrm2 |
T |
G |
6: 36,501,046 (GRCm39) |
I301R |
probably benign |
Het |
| Clec2e |
A |
G |
6: 129,070,431 (GRCm39) |
W197R |
probably damaging |
Het |
| Cnot10 |
G |
T |
9: 114,458,218 (GRCm39) |
S96* |
probably null |
Het |
| Col19a1 |
A |
G |
1: 24,328,736 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,027,466 (GRCm39) |
|
probably benign |
Het |
| Cthrc1 |
A |
T |
15: 38,950,159 (GRCm39) |
*172L |
probably null |
Het |
| Cul9 |
A |
T |
17: 46,839,515 (GRCm39) |
I821N |
probably benign |
Het |
| Daam1 |
G |
C |
12: 72,022,078 (GRCm39) |
|
probably benign |
Het |
| Dhx58 |
A |
T |
11: 100,590,090 (GRCm39) |
I398N |
probably damaging |
Het |
| Dip2b |
T |
A |
15: 100,091,794 (GRCm39) |
H844Q |
probably damaging |
Het |
| Dmac2 |
A |
G |
7: 25,320,454 (GRCm39) |
D50G |
probably damaging |
Het |
| Dmxl1 |
C |
A |
18: 50,012,429 (GRCm39) |
Q1529K |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,730,558 (GRCm39) |
P315L |
probably damaging |
Het |
| Ep300 |
T |
C |
15: 81,524,317 (GRCm39) |
S1382P |
unknown |
Het |
| Fat2 |
A |
T |
11: 55,201,603 (GRCm39) |
N490K |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,107,662 (GRCm39) |
|
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 34,980,806 (GRCm39) |
|
probably benign |
Het |
| Grin2a |
C |
A |
16: 9,397,449 (GRCm39) |
K879N |
possibly damaging |
Het |
| Hacd3 |
A |
C |
9: 64,908,304 (GRCm39) |
I164S |
possibly damaging |
Het |
| Hinfp |
A |
C |
9: 44,210,245 (GRCm39) |
C197G |
probably damaging |
Het |
| Hsd17b12 |
T |
C |
2: 93,945,335 (GRCm39) |
|
probably benign |
Het |
| Hsd3b1 |
A |
T |
3: 98,760,355 (GRCm39) |
L212Q |
probably damaging |
Het |
| Ifrd1 |
C |
T |
12: 40,264,093 (GRCm39) |
|
probably null |
Het |
| Igf2bp2 |
A |
G |
16: 21,900,551 (GRCm39) |
F129L |
possibly damaging |
Het |
| Kirrel3 |
T |
A |
9: 34,931,459 (GRCm39) |
I409N |
probably damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,447,411 (GRCm39) |
I204T |
probably damaging |
Het |
| Kpna6 |
A |
T |
4: 129,551,597 (GRCm39) |
S65R |
possibly damaging |
Het |
| Lama3 |
A |
T |
18: 12,540,620 (GRCm39) |
D308V |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,208,143 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lyzl1 |
A |
T |
18: 4,169,175 (GRCm39) |
T11S |
probably benign |
Het |
| Man1c1 |
A |
G |
4: 134,305,626 (GRCm39) |
L366P |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,901,472 (GRCm39) |
M100T |
probably damaging |
Het |
| Mettl13 |
G |
A |
1: 162,366,458 (GRCm39) |
H474Y |
possibly damaging |
Het |
| Minar2 |
T |
A |
18: 59,208,760 (GRCm39) |
V136E |
probably damaging |
Het |
| Mmp3 |
A |
G |
9: 7,451,320 (GRCm39) |
D352G |
probably benign |
Het |
| Mns1 |
T |
C |
9: 72,360,086 (GRCm39) |
I412T |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 122,842,926 (GRCm39) |
D1501G |
probably null |
Het |
| Mylk |
G |
T |
16: 34,695,990 (GRCm39) |
G242W |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,377,704 (GRCm39) |
D1715G |
possibly damaging |
Het |
| Nckap1l |
T |
C |
15: 103,362,310 (GRCm39) |
S2P |
probably damaging |
Het |
| Nek3 |
A |
T |
8: 22,618,745 (GRCm39) |
|
probably benign |
Het |
| Nfrkb |
A |
G |
9: 31,300,193 (GRCm39) |
|
probably benign |
Het |
| Nlrp4d |
T |
C |
7: 10,122,705 (GRCm39) |
D53G |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,815,628 (GRCm39) |
S561P |
probably damaging |
Het |
| Nuf2 |
A |
C |
1: 169,352,866 (GRCm39) |
|
probably benign |
Het |
| Odad3 |
T |
A |
9: 21,903,004 (GRCm39) |
H442L |
probably benign |
Het |
| Ofcc1 |
T |
A |
13: 40,168,789 (GRCm39) |
D866V |
possibly damaging |
Het |
| Optn |
A |
G |
2: 5,051,006 (GRCm39) |
L125P |
probably benign |
Het |
| Or5k3 |
A |
G |
16: 58,969,662 (GRCm39) |
I150V |
probably benign |
Het |
| Otoa |
T |
A |
7: 120,730,564 (GRCm39) |
F588Y |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,269,850 (GRCm39) |
|
probably null |
Het |
| Pde5a |
T |
G |
3: 122,629,232 (GRCm39) |
C635W |
probably damaging |
Het |
| Pdgfb |
A |
T |
15: 79,887,620 (GRCm39) |
|
probably null |
Het |
| Pih1d2 |
T |
A |
9: 50,532,346 (GRCm39) |
C135S |
probably damaging |
Het |
| Plcg1 |
G |
T |
2: 160,594,286 (GRCm39) |
C361F |
probably damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,567,619 (GRCm39) |
|
probably benign |
Het |
| Pramel26 |
T |
A |
4: 143,538,269 (GRCm39) |
D234V |
probably benign |
Het |
| Prdm10 |
G |
A |
9: 31,260,564 (GRCm39) |
|
probably null |
Het |
| Prex2 |
T |
A |
1: 11,159,930 (GRCm39) |
|
probably null |
Het |
| Prss56 |
T |
G |
1: 87,112,452 (GRCm39) |
|
probably null |
Het |
| Prtg |
A |
G |
9: 72,752,240 (GRCm39) |
K209E |
probably benign |
Het |
| Rasgrp4 |
A |
G |
7: 28,845,285 (GRCm39) |
Y302C |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,318,858 (GRCm39) |
M759K |
probably damaging |
Het |
| Rbm15b |
T |
A |
9: 106,763,197 (GRCm39) |
M324L |
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,415,987 (GRCm39) |
V500A |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,180,451 (GRCm39) |
K434R |
probably damaging |
Het |
| Rims1 |
C |
T |
1: 22,635,607 (GRCm39) |
A125T |
possibly damaging |
Het |
| Robo3 |
A |
G |
9: 37,333,473 (GRCm39) |
V746A |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,557,820 (GRCm39) |
E1340K |
unknown |
Het |
| Sacs |
G |
A |
14: 61,443,089 (GRCm39) |
D1712N |
possibly damaging |
Het |
| Samd4b |
G |
A |
7: 28,103,402 (GRCm39) |
P19S |
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,956,151 (GRCm39) |
Y347C |
probably damaging |
Het |
| Sema6d |
T |
A |
2: 124,500,410 (GRCm39) |
I393N |
probably damaging |
Het |
| Sigmar1 |
C |
T |
4: 41,741,243 (GRCm39) |
A4T |
probably benign |
Het |
| Skint9 |
C |
A |
4: 112,246,376 (GRCm39) |
L245F |
probably benign |
Het |
| Slc35f5 |
T |
C |
1: 125,512,832 (GRCm39) |
L372P |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 84,950,478 (GRCm39) |
I1182N |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 178,785,138 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
T |
C |
13: 53,491,648 (GRCm39) |
D417G |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,225,216 (GRCm39) |
N31S |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,964,738 (GRCm39) |
D811G |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,418,442 (GRCm38) |
T1221A |
probably benign |
Het |
| Tph2 |
T |
C |
10: 115,010,014 (GRCm39) |
D182G |
probably damaging |
Het |
| Traf6 |
C |
T |
2: 101,518,933 (GRCm39) |
Q141* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,587,275 (GRCm39) |
D21574G |
probably damaging |
Het |
| Uba2 |
T |
A |
7: 33,850,446 (GRCm39) |
N367I |
probably benign |
Het |
| Ube2b |
T |
C |
11: 51,879,429 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
G |
T |
15: 38,030,916 (GRCm39) |
L426I |
probably benign |
Het |
| Ugt2a2 |
T |
A |
5: 87,612,007 (GRCm39) |
H301L |
probably benign |
Het |
| Upf2 |
T |
A |
2: 6,023,705 (GRCm39) |
|
probably benign |
Het |
| Utrn |
T |
C |
10: 12,585,804 (GRCm39) |
D991G |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,800,140 (GRCm39) |
D734G |
probably damaging |
Het |
| Vmn2r68 |
C |
G |
7: 84,882,466 (GRCm39) |
|
probably null |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,457 (GRCm39) |
|
probably benign |
Het |
| Vwf |
T |
A |
6: 125,603,324 (GRCm39) |
Y891* |
probably null |
Het |
| Wwox |
C |
T |
8: 115,433,018 (GRCm39) |
T228I |
probably benign |
Het |
| Zer1 |
C |
T |
2: 29,998,225 (GRCm39) |
|
probably benign |
Het |
| Zfp180 |
C |
T |
7: 23,804,132 (GRCm39) |
H184Y |
possibly damaging |
Het |
| Zfp68 |
A |
T |
5: 138,605,487 (GRCm39) |
Y279N |
probably benign |
Het |
|
| Other mutations in Ptprc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
lochy
|
APN |
1 |
138,011,528 (GRCm39) |
splice site |
probably benign |
|
|
IGL00486:Ptprc
|
APN |
1 |
138,043,359 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00771:Ptprc
|
APN |
1 |
138,041,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00833:Ptprc
|
APN |
1 |
138,006,230 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL00919:Ptprc
|
APN |
1 |
138,041,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01020:Ptprc
|
APN |
1 |
138,047,911 (GRCm39) |
critical splice acceptor site |
probably null |
0.00 |
|
IGL01024:Ptprc
|
APN |
1 |
138,008,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01302:Ptprc
|
APN |
1 |
138,027,369 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01548:Ptprc
|
APN |
1 |
138,027,219 (GRCm39) |
critical splice donor site |
probably null |
0.00 |
|
IGL01620:Ptprc
|
APN |
1 |
137,996,148 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01775:Ptprc
|
APN |
1 |
137,992,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01820:Ptprc
|
APN |
1 |
137,993,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02340:Ptprc
|
APN |
1 |
137,998,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Ptprc
|
APN |
1 |
138,027,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03169:Ptprc
|
APN |
1 |
138,041,357 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03308:Ptprc
|
APN |
1 |
138,054,058 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03404:Ptprc
|
APN |
1 |
138,020,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
belittle
|
UTSW |
1 |
138,137,493 (GRCm38) |
intron |
probably benign |
|
|
Benighted
|
UTSW |
1 |
138,054,039 (GRCm39) |
critical splice donor site |
probably null |
|
|
bletchley
|
UTSW |
1 |
138,045,600 (GRCm39) |
missense |
probably benign |
|
|
Blush
|
UTSW |
1 |
138,045,458 (GRCm39) |
intron |
probably benign |
|
|
bruise
|
UTSW |
1 |
137,992,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
chor_muang
|
UTSW |
1 |
138,041,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
crystal
|
UTSW |
1 |
137,999,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
Dumpling
|
UTSW |
1 |
137,995,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
fluorescent
|
UTSW |
1 |
138,028,930 (GRCm39) |
missense |
probably damaging |
0.97 |
|
fuchsia
|
UTSW |
1 |
138,028,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
Gentian
|
UTSW |
1 |
137,995,623 (GRCm39) |
critical splice donor site |
probably null |
|
|
guotie
|
UTSW |
1 |
137,996,139 (GRCm39) |
nonsense |
probably null |
|
|
guotie2
|
UTSW |
1 |
138,022,037 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Guotie3
|
UTSW |
1 |
138,006,189 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Gyoza
|
UTSW |
1 |
138,011,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Half_measure
|
UTSW |
1 |
137,998,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
jirisan
|
UTSW |
1 |
138,041,416 (GRCm39) |
nonsense |
probably null |
|
|
mauve
|
UTSW |
1 |
138,027,423 (GRCm39) |
missense |
probably benign |
|
|
Perverse
|
UTSW |
1 |
138,028,782 (GRCm39) |
missense |
probably benign |
0.02 |
|
petechiae
|
UTSW |
1 |
138,041,446 (GRCm39) |
nonsense |
probably null |
|
|
ultra
|
UTSW |
1 |
138,006,183 (GRCm39) |
critical splice donor site |
probably null |
|
|
violaceous
|
UTSW |
1 |
138,011,377 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0013:Ptprc
|
UTSW |
1 |
138,041,297 (GRCm39) |
splice site |
probably null |
|
|
R0189:Ptprc
|
UTSW |
1 |
138,010,453 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0504:Ptprc
|
UTSW |
1 |
138,016,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0602:Ptprc
|
UTSW |
1 |
138,017,223 (GRCm39) |
splice site |
probably benign |
|
|
R0627:Ptprc
|
UTSW |
1 |
137,996,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0632:Ptprc
|
UTSW |
1 |
138,001,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0751:Ptprc
|
UTSW |
1 |
138,020,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0839:Ptprc
|
UTSW |
1 |
138,028,870 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0942:Ptprc
|
UTSW |
1 |
137,996,139 (GRCm39) |
nonsense |
probably null |
|
|
R0943:Ptprc
|
UTSW |
1 |
138,038,902 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1159:Ptprc
|
UTSW |
1 |
138,000,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1442:Ptprc
|
UTSW |
1 |
138,000,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1489:Ptprc
|
UTSW |
1 |
138,047,824 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1728:Ptprc
|
UTSW |
1 |
138,035,562 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1728:Ptprc
|
UTSW |
1 |
138,035,561 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1728:Ptprc
|
UTSW |
1 |
138,027,414 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1728:Ptprc
|
UTSW |
1 |
138,039,992 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1728:Ptprc
|
UTSW |
1 |
138,035,575 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1729:Ptprc
|
UTSW |
1 |
138,035,561 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1729:Ptprc
|
UTSW |
1 |
138,027,414 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1729:Ptprc
|
UTSW |
1 |
138,039,992 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1729:Ptprc
|
UTSW |
1 |
138,035,575 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1729:Ptprc
|
UTSW |
1 |
138,035,562 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1730:Ptprc
|
UTSW |
1 |
138,035,575 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1730:Ptprc
|
UTSW |
1 |
138,039,992 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1730:Ptprc
|
UTSW |
1 |
138,027,414 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1730:Ptprc
|
UTSW |
1 |
138,035,561 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1730:Ptprc
|
UTSW |
1 |
138,035,562 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1739:Ptprc
|
UTSW |
1 |
138,035,575 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1739:Ptprc
|
UTSW |
1 |
138,039,992 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1739:Ptprc
|
UTSW |
1 |
138,027,414 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1739:Ptprc
|
UTSW |
1 |
138,035,561 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1739:Ptprc
|
UTSW |
1 |
138,035,562 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1762:Ptprc
|
UTSW |
1 |
138,035,575 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1762:Ptprc
|
UTSW |
1 |
138,039,992 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1762:Ptprc
|
UTSW |
1 |
138,027,414 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1762:Ptprc
|
UTSW |
1 |
138,035,561 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1762:Ptprc
|
UTSW |
1 |
138,035,562 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1783:Ptprc
|
UTSW |
1 |
138,027,414 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1783:Ptprc
|
UTSW |
1 |
138,035,561 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1783:Ptprc
|
UTSW |
1 |
138,035,562 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1783:Ptprc
|
UTSW |
1 |
138,035,575 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1783:Ptprc
|
UTSW |
1 |
138,039,992 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1784:Ptprc
|
UTSW |
1 |
138,035,575 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1784:Ptprc
|
UTSW |
1 |
138,039,992 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1784:Ptprc
|
UTSW |
1 |
138,027,414 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1784:Ptprc
|
UTSW |
1 |
138,035,561 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1784:Ptprc
|
UTSW |
1 |
138,035,562 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1785:Ptprc
|
UTSW |
1 |
138,027,414 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1785:Ptprc
|
UTSW |
1 |
138,035,561 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1785:Ptprc
|
UTSW |
1 |
138,039,992 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1785:Ptprc
|
UTSW |
1 |
138,035,575 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1785:Ptprc
|
UTSW |
1 |
138,035,562 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1862:Ptprc
|
UTSW |
1 |
138,039,965 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2145:Ptprc
|
UTSW |
1 |
138,001,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2290:Ptprc
|
UTSW |
1 |
138,038,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2403:Ptprc
|
UTSW |
1 |
138,016,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2439:Ptprc
|
UTSW |
1 |
137,993,890 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2887:Ptprc
|
UTSW |
1 |
138,007,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2906:Ptprc
|
UTSW |
1 |
137,992,272 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3774:Ptprc
|
UTSW |
1 |
137,992,511 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3775:Ptprc
|
UTSW |
1 |
137,992,511 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3776:Ptprc
|
UTSW |
1 |
137,992,511 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3834:Ptprc
|
UTSW |
1 |
138,011,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4019:Ptprc
|
UTSW |
1 |
138,006,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4377:Ptprc
|
UTSW |
1 |
137,995,663 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4580:Ptprc
|
UTSW |
1 |
137,998,989 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4923:Ptprc
|
UTSW |
1 |
138,006,236 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4925:Ptprc
|
UTSW |
1 |
138,027,235 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4937:Ptprc
|
UTSW |
1 |
138,017,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Ptprc
|
UTSW |
1 |
138,022,037 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5112:Ptprc
|
UTSW |
1 |
138,022,037 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5145:Ptprc
|
UTSW |
1 |
138,017,304 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5158:Ptprc
|
UTSW |
1 |
138,102,822 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5223:Ptprc
|
UTSW |
1 |
138,045,600 (GRCm39) |
missense |
probably benign |
|
|
R5593:Ptprc
|
UTSW |
1 |
138,045,458 (GRCm39) |
intron |
probably benign |
|
|
R5689:Ptprc
|
UTSW |
1 |
138,045,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5885:Ptprc
|
UTSW |
1 |
138,016,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6010:Ptprc
|
UTSW |
1 |
138,028,794 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6026:Ptprc
|
UTSW |
1 |
137,998,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6047:Ptprc
|
UTSW |
1 |
138,028,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6173:Ptprc
|
UTSW |
1 |
137,995,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6328:Ptprc
|
UTSW |
1 |
138,041,416 (GRCm39) |
nonsense |
probably null |
|
|
R6383:Ptprc
|
UTSW |
1 |
138,006,189 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6436:Ptprc
|
UTSW |
1 |
138,011,377 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6492:Ptprc
|
UTSW |
1 |
138,041,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6520:Ptprc
|
UTSW |
1 |
138,007,881 (GRCm39) |
nonsense |
probably null |
|
|
R6805:Ptprc
|
UTSW |
1 |
137,995,623 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6830:Ptprc
|
UTSW |
1 |
137,999,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6847:Ptprc
|
UTSW |
1 |
138,016,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6960:Ptprc
|
UTSW |
1 |
138,006,183 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6995:Ptprc
|
UTSW |
1 |
138,016,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7009:Ptprc
|
UTSW |
1 |
137,992,291 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7041:Ptprc
|
UTSW |
1 |
138,054,047 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7055:Ptprc
|
UTSW |
1 |
138,017,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7098:Ptprc
|
UTSW |
1 |
138,027,423 (GRCm39) |
missense |
probably benign |
|
|
R7164:Ptprc
|
UTSW |
1 |
138,045,600 (GRCm39) |
missense |
probably benign |
|
|
R7188:Ptprc
|
UTSW |
1 |
137,998,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7191:Ptprc
|
UTSW |
1 |
138,028,782 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7204:Ptprc
|
UTSW |
1 |
138,045,600 (GRCm39) |
missense |
probably benign |
|
|
R7316:Ptprc
|
UTSW |
1 |
137,992,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Ptprc
|
UTSW |
1 |
137,995,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7948:Ptprc
|
UTSW |
1 |
137,992,314 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8029:Ptprc
|
UTSW |
1 |
138,006,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Ptprc
|
UTSW |
1 |
138,011,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8704:Ptprc
|
UTSW |
1 |
138,043,362 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8824:Ptprc
|
UTSW |
1 |
138,041,446 (GRCm39) |
nonsense |
probably null |
|
|
R8921:Ptprc
|
UTSW |
1 |
138,054,039 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8998:Ptprc
|
UTSW |
1 |
138,028,930 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8999:Ptprc
|
UTSW |
1 |
138,028,930 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9154:Ptprc
|
UTSW |
1 |
138,016,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9388:Ptprc
|
UTSW |
1 |
138,011,380 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9428:Ptprc
|
UTSW |
1 |
138,041,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9467:Ptprc
|
UTSW |
1 |
137,993,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9468:Ptprc
|
UTSW |
1 |
138,044,754 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9479:Ptprc
|
UTSW |
1 |
138,001,388 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9526:Ptprc
|
UTSW |
1 |
137,996,111 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9632:Ptprc
|
UTSW |
1 |
138,008,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9710:Ptprc
|
UTSW |
1 |
138,008,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9714:Ptprc
|
UTSW |
1 |
138,008,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Ptprc
|
UTSW |
1 |
138,047,901 (GRCm39) |
missense |
|
|
|
Z1177:Ptprc
|
UTSW |
1 |
137,995,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTAGCAGCCACACAGATGCAG -3'
(R):5'- TGTGCAGATGTGGAAGTATGCAGAC -3'
Sequencing Primer
(F):5'- AGGAAAGTTTGTGTGTCAACC -3'
(R):5'- atgtgGAAGTATGCAGACACACTC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation