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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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'
Posted On 2022-09-12