Incidental Mutation 'R9620:Ptprm'
ID |
724750 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptprm
|
Ensembl Gene |
ENSMUSG00000033278 |
Gene Name |
protein tyrosine phosphatase receptor type M |
Synonyms |
RPTPmu |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9620 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
66973942-67661452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67116484 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 932
(Y932H)
|
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: Y932H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000045603 Gene: ENSMUSG00000033278 AA Change: Y932H
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: Y898H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224091
AA Change: Y923H
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: 99.2%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
G |
T |
18: 10,704,605 (GRCm39) |
T151K |
possibly damaging |
Het |
Acsf2 |
C |
T |
11: 94,463,412 (GRCm39) |
W130* |
probably null |
Het |
Aldh16a1 |
G |
A |
7: 44,797,413 (GRCm39) |
R132* |
probably null |
Het |
Amer3 |
C |
T |
1: 34,628,043 (GRCm39) |
P761S |
probably benign |
Het |
Amotl1 |
G |
T |
9: 14,459,969 (GRCm39) |
D886E |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,035,909 (GRCm39) |
F1383S |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,225,781 (GRCm39) |
V148E |
unknown |
Het |
Col9a2 |
T |
A |
4: 120,910,403 (GRCm39) |
|
probably null |
Het |
Cyp2a5 |
T |
A |
7: 26,536,636 (GRCm39) |
M205K |
possibly damaging |
Het |
Dcst2 |
A |
T |
3: 89,277,825 (GRCm39) |
Q466L |
possibly damaging |
Het |
Ecel1 |
T |
C |
1: 87,080,853 (GRCm39) |
I350V |
possibly damaging |
Het |
Enthd1 |
G |
A |
15: 80,336,901 (GRCm39) |
T511I |
probably benign |
Het |
Exoc6b |
T |
A |
6: 84,988,302 (GRCm39) |
K92* |
probably null |
Het |
Fam181a |
T |
G |
12: 103,282,591 (GRCm39) |
Y165* |
probably null |
Het |
Fbxo34 |
A |
G |
14: 47,768,725 (GRCm39) |
Y746C |
probably damaging |
Het |
Fgfr4 |
T |
A |
13: 55,308,994 (GRCm39) |
S372T |
possibly damaging |
Het |
Fmo1 |
A |
G |
1: 162,661,390 (GRCm39) |
F298L |
probably benign |
Het |
Gad1 |
A |
C |
2: 70,404,620 (GRCm39) |
D170A |
possibly damaging |
Het |
Garin2 |
A |
C |
12: 78,762,077 (GRCm39) |
D247A |
probably damaging |
Het |
Golgb1 |
T |
C |
16: 36,739,811 (GRCm39) |
S2758P |
probably benign |
Het |
Golm2 |
T |
C |
2: 121,737,242 (GRCm39) |
V261A |
probably benign |
Het |
H2az2 |
A |
T |
11: 6,379,094 (GRCm39) |
|
probably null |
Het |
Ilkap |
A |
G |
1: 91,303,973 (GRCm39) |
C163R |
|
Het |
Krt9 |
A |
T |
11: 100,079,186 (GRCm39) |
D735E |
unknown |
Het |
Lipo3 |
A |
T |
19: 33,559,629 (GRCm39) |
C80* |
probably null |
Het |
Lpcat3 |
C |
T |
6: 124,680,543 (GRCm39) |
P478L |
probably damaging |
Het |
Luc7l3 |
G |
A |
11: 94,212,545 (GRCm39) |
R24C |
unknown |
Het |
Mafa |
T |
A |
15: 75,619,161 (GRCm39) |
H204L |
probably benign |
Het |
Mapk10 |
A |
C |
5: 103,114,473 (GRCm39) |
V305G |
probably damaging |
Het |
Mgat1 |
T |
C |
11: 49,152,122 (GRCm39) |
F202L |
probably benign |
Het |
Mical2 |
A |
T |
7: 111,980,403 (GRCm39) |
T126S |
probably benign |
Het |
Mill1 |
G |
A |
7: 17,997,027 (GRCm39) |
R206H |
probably benign |
Het |
Nlrc5 |
A |
T |
8: 95,203,034 (GRCm39) |
Y378F |
probably benign |
Het |
Nlrp9a |
G |
T |
7: 26,250,469 (GRCm39) |
R78L |
probably damaging |
Het |
Or10b1 |
G |
T |
10: 78,356,128 (GRCm39) |
A229S |
probably benign |
Het |
Or52i2 |
A |
T |
7: 102,320,011 (GRCm39) |
I295F |
possibly damaging |
Het |
Or8g50 |
A |
T |
9: 39,648,287 (GRCm39) |
M59L |
|
Het |
Orc6 |
A |
T |
8: 86,026,430 (GRCm39) |
|
probably benign |
Het |
Pate14 |
A |
G |
9: 36,548,498 (GRCm39) |
|
probably null |
Het |
Pcdhgb5 |
C |
T |
18: 37,864,486 (GRCm39) |
Q94* |
probably null |
Het |
Pcnx1 |
A |
G |
12: 81,996,960 (GRCm39) |
D952G |
probably damaging |
Het |
Ppfia2 |
A |
T |
10: 106,749,519 (GRCm39) |
H1135L |
|
Het |
Prmt2 |
A |
T |
10: 76,061,213 (GRCm39) |
I91N |
probably damaging |
Het |
Qrich2 |
T |
C |
11: 116,337,946 (GRCm39) |
K154R |
probably damaging |
Het |
Rapgef4 |
A |
G |
2: 72,036,051 (GRCm39) |
T515A |
probably benign |
Het |
Rgmb |
G |
A |
17: 16,041,279 (GRCm39) |
R103* |
probably null |
Het |
Ripk1 |
T |
G |
13: 34,210,806 (GRCm39) |
S334A |
possibly damaging |
Het |
Rnf5 |
C |
T |
17: 34,820,721 (GRCm39) |
G147S |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,715,138 (GRCm39) |
Y4662C |
unknown |
Het |
Secisbp2l |
A |
G |
2: 125,589,394 (GRCm39) |
M718T |
probably damaging |
Het |
Slc16a6 |
T |
C |
11: 109,354,322 (GRCm39) |
T100A |
probably benign |
Het |
Slc27a6 |
T |
A |
18: 58,742,887 (GRCm39) |
M525K |
probably damaging |
Het |
Slco2a1 |
G |
C |
9: 102,962,065 (GRCm39) |
C579S |
probably damaging |
Het |
Snx14 |
A |
G |
9: 88,263,794 (GRCm39) |
S864P |
probably damaging |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
Sptbn2 |
T |
C |
19: 4,800,535 (GRCm39) |
L2250P |
probably damaging |
Het |
Tlr6 |
A |
T |
5: 65,112,146 (GRCm39) |
S254T |
possibly damaging |
Het |
Trap1 |
A |
T |
16: 3,858,083 (GRCm39) |
Y675* |
probably null |
Het |
Ttc9b |
C |
A |
7: 27,353,512 (GRCm39) |
A54E |
probably damaging |
Het |
Unc45a |
A |
C |
7: 79,975,403 (GRCm39) |
Y934D |
probably damaging |
Het |
Usp17ld |
A |
G |
7: 102,900,179 (GRCm39) |
L251P |
possibly damaging |
Het |
Usp42 |
A |
G |
5: 143,703,154 (GRCm39) |
V489A |
probably damaging |
Het |
Vars1 |
A |
G |
17: 35,235,001 (GRCm39) |
T1277A |
unknown |
Het |
Vmn2r117 |
A |
G |
17: 23,697,450 (GRCm39) |
S81P |
probably damaging |
Het |
Vmn2r69 |
T |
A |
7: 85,061,504 (GRCm39) |
I157F |
probably benign |
Het |
Zfp697 |
A |
G |
3: 98,335,182 (GRCm39) |
S316G |
probably damaging |
Het |
Zfp729b |
T |
A |
13: 67,739,787 (GRCm39) |
H826L |
probably damaging |
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 |
R9338:Ptprm
|
UTSW |
17 |
67,069,143 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GAAGTAAAATGTGAAGTGGTTTCCC -3'
(R):5'- TCCTACAGTGGAGGGATGTCAG -3'
Sequencing Primer
(F):5'- GGTTTCCCACTCCCACTGAAC -3'
(R):5'- TTGTTAGCGCCCCGTGGTC -3'
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Posted On |
2022-09-12 |