Incidental Mutation 'R7381:Ptprb'
| ID |
572744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprb
|
| Ensembl Gene |
ENSMUSG00000020154 |
| Gene Name |
protein tyrosine phosphatase receptor type B |
| Synonyms |
3230402H02Rik, VE-PTP |
| MMRRC Submission |
045463-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7381 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
116111428-116225440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116177038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 988
(I988V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092167]
[ENSMUST00000218553]
|
| AlphaFold |
B2RU80 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092167
AA Change: I988V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000089805
Gene: ENSMUSG00000020154
AA Change: I988V
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
22 |
102 |
8.23e1 |
SMART |
|
FN3
|
111 |
193 |
1.73e-5 |
SMART |
|
FN3
|
204 |
281 |
1.56e-3 |
SMART |
|
FN3
|
290 |
366 |
6.45e-5 |
SMART |
|
FN3
|
378 |
459 |
5e-2 |
SMART |
|
FN3
|
468 |
546 |
1.61e-5 |
SMART |
|
FN3
|
555 |
632 |
7.18e-3 |
SMART |
|
FN3
|
644 |
724 |
7.52e-6 |
SMART |
|
FN3
|
732 |
811 |
2.92e-3 |
SMART |
|
FN3
|
820 |
899 |
2.76e-4 |
SMART |
|
FN3
|
908 |
987 |
1.29e-4 |
SMART |
|
FN3
|
996 |
1075 |
7.7e-3 |
SMART |
|
FN3
|
1086 |
1166 |
1.21e0 |
SMART |
|
FN3
|
1174 |
1253 |
5.08e-3 |
SMART |
|
FN3
|
1262 |
1340 |
1.17e-7 |
SMART |
|
FN3
|
1356 |
1435 |
2.68e-2 |
SMART |
|
Blast:FN3
|
1450 |
1591 |
6e-88 |
BLAST |
|
transmembrane domain
|
1620 |
1642 |
N/A |
INTRINSIC |
|
Blast:PTPc
|
1643 |
1681 |
3e-11 |
BLAST |
|
PTPc
|
1703 |
1966 |
1.05e-134 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218553
AA Change: I1275V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0652 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (88/90) |
| 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, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality at E10, impaired vascular maintenace and remodeling, heart defects and abnormal yolk sac vasculature. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
T |
C |
9: 53,323,122 (GRCm39) |
Y53H |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,920,913 (GRCm39) |
|
probably null |
Het |
| Acads |
C |
A |
5: 115,249,057 (GRCm39) |
Q365H |
probably damaging |
Het |
| Acsm3 |
A |
G |
7: 119,380,049 (GRCm39) |
D462G |
probably damaging |
Het |
| Adam39 |
T |
A |
8: 41,279,000 (GRCm39) |
C464S |
probably damaging |
Het |
| Adgra3 |
A |
G |
5: 50,216,116 (GRCm39) |
M1T |
probably null |
Het |
| AI182371 |
T |
C |
2: 34,975,371 (GRCm39) |
Y276C |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,730,277 (GRCm39) |
H719L |
possibly damaging |
Het |
| Ano7 |
G |
A |
1: 93,323,057 (GRCm39) |
V466I |
probably benign |
Het |
| Art5 |
A |
G |
7: 101,747,377 (GRCm39) |
L134P |
probably damaging |
Het |
| Atcay |
A |
G |
10: 81,046,431 (GRCm39) |
Y298H |
possibly damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,067,682 (GRCm39) |
F527Y |
possibly damaging |
Het |
| Bpifb2 |
A |
T |
2: 153,734,268 (GRCm39) |
M428L |
probably benign |
Het |
| Brinp2 |
A |
C |
1: 158,073,913 (GRCm39) |
V736G |
probably benign |
Het |
| Cdc5l |
C |
T |
17: 45,722,849 (GRCm39) |
A437T |
probably benign |
Het |
| Cdx2 |
G |
A |
5: 147,243,440 (GRCm39) |
P118L |
possibly damaging |
Het |
| Chpt1 |
G |
A |
10: 88,311,193 (GRCm39) |
|
probably null |
Het |
| Creb3l2 |
T |
A |
6: 37,312,783 (GRCm39) |
E417V |
probably damaging |
Het |
| Csnk2a1 |
A |
G |
2: 152,100,614 (GRCm39) |
T129A |
probably benign |
Het |
| Dennd6b |
A |
T |
15: 89,070,376 (GRCm39) |
L431Q |
possibly damaging |
Het |
| Dgkz |
C |
T |
2: 91,775,180 (GRCm39) |
A260T |
probably benign |
Het |
| Dhx34 |
T |
A |
7: 15,949,373 (GRCm39) |
T352S |
probably benign |
Het |
| Elp4 |
C |
T |
2: 105,622,652 (GRCm39) |
R349Q |
not run |
Het |
| Emsy |
A |
C |
7: 98,240,010 (GRCm39) |
F1228V |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,473,437 (GRCm39) |
|
probably null |
Het |
| Faf1 |
T |
A |
4: 109,719,134 (GRCm39) |
D413E |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,158,283 (GRCm39) |
Y1109C |
probably damaging |
Het |
| Fbp1 |
T |
C |
13: 63,012,867 (GRCm39) |
K314E |
probably benign |
Het |
| Fbxl20 |
A |
G |
11: 97,981,614 (GRCm39) |
V358A |
probably benign |
Het |
| Fbxo34 |
C |
G |
14: 47,767,992 (GRCm39) |
R502G |
probably benign |
Het |
| Fxr2 |
G |
A |
11: 69,532,875 (GRCm39) |
C151Y |
possibly damaging |
Het |
| Garin5b |
C |
A |
7: 4,760,681 (GRCm39) |
R677L |
|
Het |
| Gja8 |
T |
C |
3: 96,827,338 (GRCm39) |
D108G |
probably benign |
Het |
| Gm10722 |
C |
A |
9: 3,001,235 (GRCm39) |
L104I |
probably benign |
Het |
| Grsf1 |
A |
G |
5: 88,813,666 (GRCm39) |
V361A |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,431,785 (GRCm39) |
I228N |
probably damaging |
Het |
| Hagh |
T |
C |
17: 25,075,686 (GRCm39) |
I131T |
probably damaging |
Het |
| Heca |
A |
T |
10: 17,791,272 (GRCm39) |
Y261* |
probably null |
Het |
| Hipk3 |
A |
G |
2: 104,269,696 (GRCm39) |
F498L |
probably damaging |
Het |
| Hps4 |
T |
A |
5: 112,523,324 (GRCm39) |
I614N |
possibly damaging |
Het |
| Icam1 |
T |
C |
9: 20,938,886 (GRCm39) |
S450P |
probably benign |
Het |
| Il22 |
G |
A |
10: 118,041,069 (GRCm39) |
M58I |
possibly damaging |
Het |
| Khdrbs2 |
T |
A |
1: 32,372,883 (GRCm39) |
S186T |
not run |
Het |
| Kif16b |
A |
G |
2: 142,699,343 (GRCm39) |
F79S |
probably damaging |
Het |
| Kntc1 |
C |
A |
5: 123,948,971 (GRCm39) |
F1905L |
probably benign |
Het |
| Liat1 |
A |
T |
11: 75,893,833 (GRCm39) |
D70V |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,692,929 (GRCm39) |
G3423D |
|
Het |
| Lrp5 |
G |
T |
19: 3,643,588 (GRCm39) |
Q1346K |
probably benign |
Het |
| Map3k21 |
A |
C |
8: 126,671,717 (GRCm39) |
T1002P |
possibly damaging |
Het |
| Mdga2 |
G |
T |
12: 66,615,670 (GRCm39) |
R646S |
probably benign |
Het |
| Mex3b |
G |
T |
7: 82,518,073 (GRCm39) |
M129I |
possibly damaging |
Het |
| Mfsd10 |
G |
T |
5: 34,793,770 (GRCm39) |
N85K |
probably damaging |
Het |
| Mios |
A |
G |
6: 8,216,064 (GRCm39) |
D420G |
probably damaging |
Het |
| Mogs |
C |
A |
6: 83,092,613 (GRCm39) |
P18T |
unknown |
Het |
| Mrgpre |
A |
G |
7: 143,335,150 (GRCm39) |
C118R |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,601,285 (GRCm39) |
H1321L |
|
Het |
| Nkapl |
T |
C |
13: 21,651,759 (GRCm39) |
K285E |
probably damaging |
Het |
| Nphp4 |
C |
T |
4: 152,583,460 (GRCm39) |
P200S |
possibly damaging |
Het |
| Piezo1 |
A |
G |
8: 123,228,397 (GRCm39) |
F297L |
|
Het |
| Pkhd1 |
T |
G |
1: 20,271,197 (GRCm39) |
S3119R |
probably damaging |
Het |
| Pla2g15 |
G |
A |
8: 106,889,576 (GRCm39) |
V283I |
probably benign |
Het |
| Ppp1r13l |
T |
A |
7: 19,102,786 (GRCm39) |
|
probably null |
Het |
| Prex1 |
A |
G |
2: 166,429,047 (GRCm39) |
Y849H |
probably damaging |
Het |
| Psg27 |
C |
A |
7: 18,301,008 (GRCm39) |
W15L |
probably benign |
Het |
| Ptar1 |
A |
T |
19: 23,686,334 (GRCm39) |
|
probably null |
Het |
| Ptpn6 |
G |
A |
6: 124,705,135 (GRCm39) |
R264C |
probably damaging |
Het |
| Ptpro |
G |
A |
6: 137,376,559 (GRCm39) |
V680I |
possibly damaging |
Het |
| Rnf170 |
C |
T |
8: 26,613,876 (GRCm39) |
P28S |
probably benign |
Het |
| Rnpepl1 |
A |
G |
1: 92,846,917 (GRCm39) |
S580G |
possibly damaging |
Het |
| Rtel1 |
C |
T |
2: 180,972,608 (GRCm39) |
R29* |
probably null |
Het |
| Rtkn |
T |
C |
6: 83,128,726 (GRCm39) |
L26P |
probably damaging |
Het |
| Sdk2 |
A |
C |
11: 113,729,315 (GRCm39) |
S1087R |
probably damaging |
Het |
| Sema7a |
C |
T |
9: 57,860,852 (GRCm39) |
P71L |
probably benign |
Het |
| Sgpp1 |
C |
T |
12: 75,763,038 (GRCm39) |
C381Y |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,820,625 (GRCm39) |
|
probably null |
Het |
| Slc24a5 |
A |
C |
2: 124,910,869 (GRCm39) |
D100A |
probably benign |
Het |
| Slc25a23 |
A |
T |
17: 57,360,587 (GRCm39) |
I251K |
probably damaging |
Het |
| Slc6a5 |
T |
A |
7: 49,579,804 (GRCm39) |
L394H |
probably damaging |
Het |
| Slc7a4 |
A |
T |
16: 17,392,920 (GRCm39) |
M293K |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,973,263 (GRCm39) |
S1089T |
probably benign |
Het |
| Tanc1 |
A |
T |
2: 59,615,670 (GRCm39) |
T226S |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,936,984 (GRCm39) |
T1355A |
probably benign |
Het |
| Tmem101 |
A |
G |
11: 102,044,176 (GRCm39) |
M237T |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,749,359 (GRCm39) |
H3897Y |
possibly damaging |
Het |
| Tubb4a |
C |
T |
17: 57,387,698 (GRCm39) |
V443M |
unknown |
Het |
| Ucp2 |
G |
A |
7: 100,147,576 (GRCm39) |
R185H |
possibly damaging |
Het |
| Vmn1r116 |
G |
T |
7: 20,606,436 (GRCm39) |
E86* |
probably null |
Het |
| Vmn2r37 |
T |
C |
7: 9,213,032 (GRCm39) |
E530G |
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,333,125 (GRCm39) |
T1293A |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,260,535 (GRCm39) |
Y1711N |
probably benign |
Het |
| Zfp873 |
A |
T |
10: 81,896,805 (GRCm39) |
E512V |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,657,654 (GRCm39) |
K752N |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,916,561 (GRCm39) |
N562D |
possibly damaging |
Het |
|
| Other mutations in Ptprb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Ptprb
|
APN |
10 |
116,198,553 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01354:Ptprb
|
APN |
10 |
116,179,796 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01404:Ptprb
|
APN |
10 |
116,175,341 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01410:Ptprb
|
APN |
10 |
116,138,179 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01412:Ptprb
|
APN |
10 |
116,179,820 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01731:Ptprb
|
APN |
10 |
116,208,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02003:Ptprb
|
APN |
10 |
116,203,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02110:Ptprb
|
APN |
10 |
116,167,108 (GRCm39) |
splice site |
probably benign |
|
|
IGL02178:Ptprb
|
APN |
10 |
116,158,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02304:Ptprb
|
APN |
10 |
116,167,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02324:Ptprb
|
APN |
10 |
116,155,238 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02388:Ptprb
|
APN |
10 |
116,203,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02640:Ptprb
|
APN |
10 |
116,174,569 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02698:Ptprb
|
APN |
10 |
116,199,185 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02876:Ptprb
|
APN |
10 |
116,184,116 (GRCm39) |
splice site |
probably benign |
|
|
IGL02879:Ptprb
|
APN |
10 |
116,163,873 (GRCm39) |
missense |
probably benign |
|
|
IGL02982:Ptprb
|
APN |
10 |
116,158,533 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL03146:Ptprb
|
APN |
10 |
116,164,032 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03351:Ptprb
|
APN |
10 |
116,175,487 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0306:Ptprb
|
UTSW |
10 |
116,179,893 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0385:Ptprb
|
UTSW |
10 |
116,186,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0600:Ptprb
|
UTSW |
10 |
116,204,712 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0613:Ptprb
|
UTSW |
10 |
116,138,283 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0613:Ptprb
|
UTSW |
10 |
116,138,230 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0850:Ptprb
|
UTSW |
10 |
116,175,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0850:Ptprb
|
UTSW |
10 |
116,138,030 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1331:Ptprb
|
UTSW |
10 |
116,203,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1413:Ptprb
|
UTSW |
10 |
116,175,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1418:Ptprb
|
UTSW |
10 |
116,155,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1545:Ptprb
|
UTSW |
10 |
116,216,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1562:Ptprb
|
UTSW |
10 |
116,175,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1752:Ptprb
|
UTSW |
10 |
116,176,895 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1837:Ptprb
|
UTSW |
10 |
116,177,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1940:Ptprb
|
UTSW |
10 |
116,155,515 (GRCm39) |
splice site |
probably benign |
|
|
R1958:Ptprb
|
UTSW |
10 |
116,177,441 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2029:Ptprb
|
UTSW |
10 |
116,182,958 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2031:Ptprb
|
UTSW |
10 |
116,153,448 (GRCm39) |
missense |
probably benign |
|
|
R2101:Ptprb
|
UTSW |
10 |
116,150,943 (GRCm39) |
splice site |
probably benign |
|
|
R2209:Ptprb
|
UTSW |
10 |
116,205,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3016:Ptprb
|
UTSW |
10 |
116,193,200 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3076:Ptprb
|
UTSW |
10 |
116,179,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3821:Ptprb
|
UTSW |
10 |
116,185,979 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3824:Ptprb
|
UTSW |
10 |
116,186,694 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3825:Ptprb
|
UTSW |
10 |
116,186,694 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3841:Ptprb
|
UTSW |
10 |
116,182,887 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3953:Ptprb
|
UTSW |
10 |
116,177,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4125:Ptprb
|
UTSW |
10 |
116,189,754 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4227:Ptprb
|
UTSW |
10 |
116,138,130 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4385:Ptprb
|
UTSW |
10 |
116,182,772 (GRCm39) |
missense |
probably benign |
|
|
R4731:Ptprb
|
UTSW |
10 |
116,155,238 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5009:Ptprb
|
UTSW |
10 |
116,184,032 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5104:Ptprb
|
UTSW |
10 |
116,158,364 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5114:Ptprb
|
UTSW |
10 |
116,184,088 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5145:Ptprb
|
UTSW |
10 |
116,179,820 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5214:Ptprb
|
UTSW |
10 |
116,205,229 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5382:Ptprb
|
UTSW |
10 |
116,189,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5553:Ptprb
|
UTSW |
10 |
116,186,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5585:Ptprb
|
UTSW |
10 |
116,216,759 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5586:Ptprb
|
UTSW |
10 |
116,189,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5808:Ptprb
|
UTSW |
10 |
116,175,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5875:Ptprb
|
UTSW |
10 |
116,184,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6051:Ptprb
|
UTSW |
10 |
116,176,995 (GRCm39) |
nonsense |
probably null |
|
|
R6383:Ptprb
|
UTSW |
10 |
116,182,912 (GRCm39) |
nonsense |
probably null |
|
|
R6511:Ptprb
|
UTSW |
10 |
116,182,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6817:Ptprb
|
UTSW |
10 |
116,119,582 (GRCm39) |
small deletion |
probably benign |
|
|
R6826:Ptprb
|
UTSW |
10 |
116,153,277 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6958:Ptprb
|
UTSW |
10 |
116,113,153 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7103:Ptprb
|
UTSW |
10 |
116,174,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7129:Ptprb
|
UTSW |
10 |
116,119,582 (GRCm39) |
small deletion |
probably benign |
|
|
R7181:Ptprb
|
UTSW |
10 |
116,204,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7215:Ptprb
|
UTSW |
10 |
116,174,681 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7289:Ptprb
|
UTSW |
10 |
116,164,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7315:Ptprb
|
UTSW |
10 |
116,198,284 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7319:Ptprb
|
UTSW |
10 |
116,177,309 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7412:Ptprb
|
UTSW |
10 |
116,177,043 (GRCm39) |
missense |
probably benign |
|
|
R7483:Ptprb
|
UTSW |
10 |
116,119,334 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7495:Ptprb
|
UTSW |
10 |
116,177,353 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7508:Ptprb
|
UTSW |
10 |
116,189,896 (GRCm39) |
nonsense |
probably null |
|
|
R7571:Ptprb
|
UTSW |
10 |
116,175,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7586:Ptprb
|
UTSW |
10 |
116,179,779 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7623:Ptprb
|
UTSW |
10 |
116,205,214 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7694:Ptprb
|
UTSW |
10 |
116,208,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7744:Ptprb
|
UTSW |
10 |
116,113,389 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7752:Ptprb
|
UTSW |
10 |
116,205,333 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7826:Ptprb
|
UTSW |
10 |
116,119,582 (GRCm39) |
small deletion |
probably benign |
|
|
R7833:Ptprb
|
UTSW |
10 |
116,151,156 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7834:Ptprb
|
UTSW |
10 |
116,175,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7846:Ptprb
|
UTSW |
10 |
116,119,453 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7896:Ptprb
|
UTSW |
10 |
116,205,362 (GRCm39) |
splice site |
probably null |
|
|
R7901:Ptprb
|
UTSW |
10 |
116,205,333 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7912:Ptprb
|
UTSW |
10 |
116,158,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Ptprb
|
UTSW |
10 |
116,119,582 (GRCm39) |
small deletion |
probably benign |
|
|
R8147:Ptprb
|
UTSW |
10 |
116,153,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8202:Ptprb
|
UTSW |
10 |
116,189,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8339:Ptprb
|
UTSW |
10 |
116,119,356 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8400:Ptprb
|
UTSW |
10 |
116,119,477 (GRCm39) |
small deletion |
probably benign |
|
|
R8504:Ptprb
|
UTSW |
10 |
116,176,936 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8679:Ptprb
|
UTSW |
10 |
116,203,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8786:Ptprb
|
UTSW |
10 |
116,155,306 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8914:Ptprb
|
UTSW |
10 |
116,158,567 (GRCm39) |
nonsense |
probably null |
|
|
R8980:Ptprb
|
UTSW |
10 |
116,119,526 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8982:Ptprb
|
UTSW |
10 |
116,119,582 (GRCm39) |
small deletion |
probably benign |
|
|
R9256:Ptprb
|
UTSW |
10 |
116,219,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9288:Ptprb
|
UTSW |
10 |
116,155,353 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9369:Ptprb
|
UTSW |
10 |
116,151,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9448:Ptprb
|
UTSW |
10 |
116,149,819 (GRCm39) |
nonsense |
probably null |
|
|
R9467:Ptprb
|
UTSW |
10 |
116,158,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9468:Ptprb
|
UTSW |
10 |
116,113,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9481:Ptprb
|
UTSW |
10 |
116,155,353 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9486:Ptprb
|
UTSW |
10 |
116,155,494 (GRCm39) |
nonsense |
probably null |
|
|
R9513:Ptprb
|
UTSW |
10 |
116,138,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9529:Ptprb
|
UTSW |
10 |
116,174,519 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9535:Ptprb
|
UTSW |
10 |
116,158,431 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9614:Ptprb
|
UTSW |
10 |
116,203,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9686:Ptprb
|
UTSW |
10 |
116,204,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF041:Ptprb
|
UTSW |
10 |
116,119,582 (GRCm39) |
small deletion |
probably benign |
|
|
X0020:Ptprb
|
UTSW |
10 |
116,138,085 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Z1176:Ptprb
|
UTSW |
10 |
116,138,061 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Ptprb
|
UTSW |
10 |
116,198,547 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGATAGGCTGATGGTAACCTG -3'
(R):5'- TTAGGGCAAAGTCCTCCACTG -3'
Sequencing Primer
(F):5'- TGATGGTAACCTGGAGCCCTG -3'
(R):5'- GGAAAGACTCTCTAAAATCCTAGTGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation