Incidental Mutation 'R9338:Ptprm'
ID |
707334 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptprm
|
Ensembl Gene |
ENSMUSG00000033278 |
Gene Name |
protein tyrosine phosphatase receptor type M |
Synonyms |
RPTPmu |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9338 (G1)
|
Quality Score |
200.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
66973942-67661452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 67069143 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 962
(R962S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037974]
[ENSMUST00000223982]
[ENSMUST00000224091]
|
AlphaFold |
P28828 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037974
AA Change: R962S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045603 Gene: ENSMUSG00000033278 AA Change: R962S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
MAM
|
22 |
184 |
2.81e-73 |
SMART |
IG
|
191 |
279 |
2.1e-6 |
SMART |
FN3
|
281 |
364 |
6.35e-4 |
SMART |
FN3
|
380 |
468 |
2.81e-5 |
SMART |
FN3
|
482 |
572 |
3.7e-5 |
SMART |
transmembrane domain
|
743 |
764 |
N/A |
INTRINSIC |
low complexity region
|
765 |
774 |
N/A |
INTRINSIC |
PTPc
|
899 |
1156 |
5.26e-135 |
SMART |
PTPc
|
1185 |
1450 |
9.46e-96 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223982
AA Change: R928S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224091
AA Change: R953S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225554
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
|
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 possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutation of this gene results in impaired flow-induced dilation in mesenteric resistance arteries. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
Adam30 |
G |
A |
3: 98,070,129 (GRCm39) |
G654D |
probably damaging |
Het |
Cct3 |
T |
C |
3: 88,225,706 (GRCm39) |
V343A |
probably benign |
Het |
Col11a2 |
A |
G |
17: 34,266,204 (GRCm39) |
T358A |
unknown |
Het |
Cox6a2 |
T |
C |
7: 127,804,914 (GRCm39) |
Y94C |
probably damaging |
Het |
Cubn |
T |
A |
2: 13,386,703 (GRCm39) |
I1521F |
probably damaging |
Het |
Dclk3 |
C |
A |
9: 111,268,373 (GRCm39) |
A14E |
unknown |
Het |
Dlgap2 |
T |
C |
8: 14,229,683 (GRCm39) |
|
probably null |
Het |
Dop1b |
C |
A |
16: 93,600,448 (GRCm39) |
Q2042K |
probably damaging |
Het |
Ech1 |
A |
G |
7: 28,525,427 (GRCm39) |
S61G |
probably null |
Het |
Ext2 |
T |
A |
2: 93,526,603 (GRCm39) |
N678Y |
probably damaging |
Het |
Fgfr2 |
G |
T |
7: 129,863,561 (GRCm39) |
C28* |
probably null |
Het |
Gon4l |
C |
A |
3: 88,809,019 (GRCm39) |
D1754E |
probably benign |
Het |
Hivep2 |
T |
A |
10: 14,004,693 (GRCm39) |
C430* |
probably null |
Het |
Htr7 |
C |
T |
19: 35,941,780 (GRCm39) |
|
probably null |
Het |
Idh3b |
A |
T |
2: 130,122,392 (GRCm39) |
M331K |
probably damaging |
Het |
Ighv2-7 |
A |
T |
12: 113,771,118 (GRCm39) |
F56I |
probably benign |
Het |
Inpp5k |
C |
T |
11: 75,536,411 (GRCm39) |
H330Y |
probably damaging |
Het |
Kif26b |
T |
C |
1: 178,744,058 (GRCm39) |
Y1385H |
probably damaging |
Het |
Mad1l1 |
A |
G |
5: 140,074,561 (GRCm39) |
L543P |
probably damaging |
Het |
Mdn1 |
A |
T |
4: 32,666,536 (GRCm39) |
H158L |
probably benign |
Het |
Mpp2 |
T |
A |
11: 101,951,249 (GRCm39) |
T511S |
probably benign |
Het |
Msantd5f6 |
T |
C |
4: 73,320,245 (GRCm39) |
E178G |
possibly damaging |
Het |
Msh4 |
T |
C |
3: 153,573,444 (GRCm39) |
I737V |
possibly damaging |
Het |
Myo15b |
T |
C |
11: 115,762,238 (GRCm39) |
L1186P |
|
Het |
Nckap1l |
A |
G |
15: 103,379,991 (GRCm39) |
T346A |
probably benign |
Het |
Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
Npy5r |
T |
C |
8: 67,134,658 (GRCm39) |
N45S |
probably benign |
Het |
Or6c202 |
T |
C |
10: 128,996,610 (GRCm39) |
N81S |
probably benign |
Het |
Pde6a |
G |
A |
18: 61,354,109 (GRCm39) |
A145T |
probably damaging |
Het |
Pfkp |
A |
C |
13: 6,634,724 (GRCm39) |
S678A |
probably damaging |
Het |
Phxr2 |
A |
G |
10: 98,962,043 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
C |
A |
16: 17,135,227 (GRCm39) |
L942F |
|
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Pla2g4e |
T |
A |
2: 120,019,914 (GRCm39) |
T179S |
probably benign |
Het |
Popdc2 |
G |
A |
16: 38,194,509 (GRCm39) |
C310Y |
probably benign |
Het |
Ppip5k1 |
C |
T |
2: 121,153,827 (GRCm39) |
R113Q |
|
Het |
Prmt7 |
C |
T |
8: 106,961,665 (GRCm39) |
R193C |
unknown |
Het |
Prph |
G |
C |
15: 98,955,359 (GRCm39) |
R442P |
probably damaging |
Het |
Prrc2b |
A |
G |
2: 32,098,779 (GRCm39) |
Y697C |
probably damaging |
Het |
Raph1 |
A |
G |
1: 60,529,300 (GRCm39) |
S654P |
unknown |
Het |
Reln |
A |
G |
5: 22,202,937 (GRCm39) |
F1288L |
probably damaging |
Het |
Rhot1 |
T |
A |
11: 80,145,568 (GRCm39) |
I553N |
probably benign |
Het |
Rnf168 |
T |
C |
16: 32,110,801 (GRCm39) |
|
probably null |
Het |
Slamf6 |
T |
A |
1: 171,747,157 (GRCm39) |
|
probably benign |
Het |
Srgap1 |
CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC |
CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC |
10: 121,689,458 (GRCm39) |
|
probably benign |
Het |
Taf4b |
C |
T |
18: 14,954,555 (GRCm39) |
P544S |
probably benign |
Het |
Tbc1d24 |
A |
G |
17: 24,427,377 (GRCm39) |
V195A |
probably benign |
Het |
Tomm70a |
A |
G |
16: 56,942,399 (GRCm39) |
M59V |
probably benign |
Het |
Trip12 |
A |
G |
1: 84,727,019 (GRCm39) |
S1184P |
probably damaging |
Het |
Trrap |
A |
G |
5: 144,727,925 (GRCm39) |
S549G |
probably benign |
Het |
Unc5d |
T |
A |
8: 29,709,471 (GRCm39) |
|
probably benign |
Het |
Ush2a |
G |
A |
1: 188,308,489 (GRCm39) |
|
probably null |
Het |
Usp45 |
T |
C |
4: 21,784,755 (GRCm39) |
V147A |
probably damaging |
Het |
Vmn2r77 |
T |
A |
7: 86,460,994 (GRCm39) |
N773K |
probably damaging |
Het |
Vps13c |
A |
T |
9: 67,858,977 (GRCm39) |
N2809I |
probably damaging |
Het |
Yeats2 |
T |
A |
16: 20,032,078 (GRCm39) |
S984R |
possibly damaging |
Het |
Yeats2 |
T |
A |
16: 20,041,533 (GRCm39) |
L1141Q |
probably damaging |
Het |
Zfp58 |
T |
A |
13: 67,639,394 (GRCm39) |
T366S |
probably benign |
Het |
|
Other mutations in Ptprm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00497:Ptprm
|
APN |
17 |
67,124,967 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01128:Ptprm
|
APN |
17 |
67,349,096 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01509:Ptprm
|
APN |
17 |
67,069,208 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01785:Ptprm
|
APN |
17 |
66,992,618 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01912:Ptprm
|
APN |
17 |
67,353,113 (GRCm39) |
missense |
probably benign |
0.13 |
IGL01929:Ptprm
|
APN |
17 |
66,997,544 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01937:Ptprm
|
APN |
17 |
67,353,158 (GRCm39) |
splice site |
probably benign |
|
IGL01939:Ptprm
|
APN |
17 |
67,370,158 (GRCm39) |
splice site |
probably benign |
|
IGL02053:Ptprm
|
APN |
17 |
67,000,836 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02203:Ptprm
|
APN |
17 |
67,260,118 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02468:Ptprm
|
APN |
17 |
67,121,504 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02500:Ptprm
|
APN |
17 |
67,227,043 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02542:Ptprm
|
APN |
17 |
67,227,145 (GRCm39) |
missense |
probably benign |
|
Becalming
|
UTSW |
17 |
67,251,327 (GRCm39) |
splice site |
probably null |
|
Pacifying
|
UTSW |
17 |
66,990,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0674:Ptprm
|
UTSW |
17 |
67,498,336 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0709:Ptprm
|
UTSW |
17 |
67,251,327 (GRCm39) |
splice site |
probably null |
|
R1054:Ptprm
|
UTSW |
17 |
67,349,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R1522:Ptprm
|
UTSW |
17 |
67,000,866 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1561:Ptprm
|
UTSW |
17 |
67,247,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R1726:Ptprm
|
UTSW |
17 |
67,349,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R1744:Ptprm
|
UTSW |
17 |
66,996,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R1873:Ptprm
|
UTSW |
17 |
66,995,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R1951:Ptprm
|
UTSW |
17 |
67,247,575 (GRCm39) |
missense |
probably benign |
0.07 |
R1952:Ptprm
|
UTSW |
17 |
67,247,575 (GRCm39) |
missense |
probably benign |
0.07 |
R1953:Ptprm
|
UTSW |
17 |
67,247,575 (GRCm39) |
missense |
probably benign |
0.07 |
R1993:Ptprm
|
UTSW |
17 |
67,054,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R2017:Ptprm
|
UTSW |
17 |
67,264,148 (GRCm39) |
splice site |
probably null |
|
R2266:Ptprm
|
UTSW |
17 |
67,032,846 (GRCm39) |
splice site |
probably null |
|
R2417:Ptprm
|
UTSW |
17 |
67,251,321 (GRCm39) |
missense |
probably damaging |
0.97 |
R2511:Ptprm
|
UTSW |
17 |
67,000,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R3726:Ptprm
|
UTSW |
17 |
67,263,855 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3824:Ptprm
|
UTSW |
17 |
67,116,570 (GRCm39) |
missense |
probably benign |
0.40 |
R4057:Ptprm
|
UTSW |
17 |
67,382,658 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4113:Ptprm
|
UTSW |
17 |
67,032,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R4559:Ptprm
|
UTSW |
17 |
66,990,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4598:Ptprm
|
UTSW |
17 |
67,402,492 (GRCm39) |
missense |
probably benign |
0.00 |
R4742:Ptprm
|
UTSW |
17 |
67,051,746 (GRCm39) |
nonsense |
probably null |
|
R4974:Ptprm
|
UTSW |
17 |
66,985,062 (GRCm39) |
missense |
probably benign |
0.01 |
R5157:Ptprm
|
UTSW |
17 |
67,264,092 (GRCm39) |
missense |
probably benign |
0.09 |
R5433:Ptprm
|
UTSW |
17 |
67,000,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R5509:Ptprm
|
UTSW |
17 |
66,996,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R5586:Ptprm
|
UTSW |
17 |
67,227,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R5820:Ptprm
|
UTSW |
17 |
66,996,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R5867:Ptprm
|
UTSW |
17 |
67,352,976 (GRCm39) |
splice site |
probably null |
|
R6044:Ptprm
|
UTSW |
17 |
67,000,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R6229:Ptprm
|
UTSW |
17 |
66,995,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R6615:Ptprm
|
UTSW |
17 |
67,660,951 (GRCm39) |
critical splice donor site |
probably null |
|
R6969:Ptprm
|
UTSW |
17 |
67,219,413 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7135:Ptprm
|
UTSW |
17 |
67,251,283 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7161:Ptprm
|
UTSW |
17 |
67,116,622 (GRCm39) |
missense |
probably benign |
0.21 |
R7410:Ptprm
|
UTSW |
17 |
67,000,561 (GRCm39) |
missense |
probably damaging |
0.99 |
R7476:Ptprm
|
UTSW |
17 |
67,032,786 (GRCm39) |
missense |
probably benign |
0.01 |
R7789:Ptprm
|
UTSW |
17 |
67,402,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R8027:Ptprm
|
UTSW |
17 |
67,251,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R8089:Ptprm
|
UTSW |
17 |
66,990,483 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8442:Ptprm
|
UTSW |
17 |
67,251,312 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8476:Ptprm
|
UTSW |
17 |
67,251,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R8866:Ptprm
|
UTSW |
17 |
67,116,630 (GRCm39) |
missense |
probably benign |
0.00 |
R8907:Ptprm
|
UTSW |
17 |
67,051,732 (GRCm39) |
missense |
probably damaging |
0.99 |
R8930:Ptprm
|
UTSW |
17 |
67,263,846 (GRCm39) |
missense |
probably benign |
0.03 |
R8932:Ptprm
|
UTSW |
17 |
67,263,846 (GRCm39) |
missense |
probably benign |
0.03 |
R9009:Ptprm
|
UTSW |
17 |
66,996,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R9084:Ptprm
|
UTSW |
17 |
67,263,948 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9514:Ptprm
|
UTSW |
17 |
67,116,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R9610:Ptprm
|
UTSW |
17 |
67,000,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R9611:Ptprm
|
UTSW |
17 |
67,000,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R9620:Ptprm
|
UTSW |
17 |
67,116,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R9663:Ptprm
|
UTSW |
17 |
67,498,291 (GRCm39) |
missense |
probably benign |
0.34 |
R9694:Ptprm
|
UTSW |
17 |
67,116,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R9736:Ptprm
|
UTSW |
17 |
66,997,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAGACCCTGCATCTCAAAGG -3'
(R):5'- ACTATGACTGCCTGCCTGAC -3'
Sequencing Primer
(F):5'- TGCATCTCAAAGGAAAACCAGG -3'
(R):5'- GCCTGCCTGACCACCATC -3'
|
Posted On |
2022-04-18 |