Incidental Mutation 'R9514:Ptprm'
ID 718420
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 # R9514 (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 67116466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 938 (Y938H)
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: Y938H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: Y938H

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: Y904H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224091
AA Change: Y929H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000225554
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T C 11: 58,312,533 (GRCm39) S4P probably benign Het
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Acsl6 A G 11: 54,225,880 (GRCm39) N307D probably benign Het
Atxn1 A G 13: 45,721,433 (GRCm39) V154A probably benign Het
Bltp3a A G 17: 28,112,414 (GRCm39) D1201G probably damaging Het
Cacna2d4 T C 6: 119,213,611 (GRCm39) L10S probably benign Het
Cd33 A T 7: 43,182,150 (GRCm39) H98Q probably benign Het
Cebpz A T 17: 79,239,684 (GRCm39) M579K probably benign Het
Cenpk T G 13: 104,370,682 (GRCm39) C103G probably benign Het
Cep97 T A 16: 55,726,093 (GRCm39) Q670L probably benign Het
Cfap65 C T 1: 74,945,468 (GRCm39) probably null Het
Cir1 A G 2: 73,142,781 (GRCm39) S18P probably damaging Het
Coprs T C 8: 13,935,081 (GRCm39) Y158C probably damaging Het
Creld1 T C 6: 113,469,765 (GRCm39) F389S probably damaging Het
Dimt1 T C 13: 107,093,636 (GRCm39) I276T possibly damaging Het
Dok1 T C 6: 83,009,972 (GRCm39) K46E probably damaging Het
Dsp T A 13: 38,371,781 (GRCm39) C911S probably benign Het
Egr3 A G 14: 70,314,978 (GRCm39) I29V probably benign Het
Fam186a A G 15: 99,844,766 (GRCm39) S493P unknown Het
Fam83a G A 15: 57,849,765 (GRCm39) G103D possibly damaging Het
Fat2 T A 11: 55,175,808 (GRCm39) Q1635L probably damaging Het
Figla A C 6: 85,997,689 (GRCm39) H139P probably benign Het
Fryl T C 5: 73,262,115 (GRCm39) K551E probably damaging Het
Galr2 A G 11: 116,174,452 (GRCm39) T361A probably benign Het
Gart A T 16: 91,427,596 (GRCm39) S467R probably benign Het
Ggps1 T C 13: 14,229,742 (GRCm39) K45R probably benign Het
Ghsr G C 3: 27,426,630 (GRCm39) V229L possibly damaging Het
H2ac21 A G 3: 96,127,401 (GRCm39) E57G probably damaging Het
Hectd2 A T 19: 36,582,689 (GRCm39) H473L possibly damaging Het
Hic2 T C 16: 17,076,293 (GRCm39) V374A possibly damaging Het
Hivep2 T A 10: 14,005,523 (GRCm39) I707N probably benign Het
Il17rc T C 6: 113,449,741 (GRCm39) S116P probably damaging Het
Krt34 A T 11: 99,929,226 (GRCm39) I328N probably damaging Het
Krt79 G A 15: 101,840,288 (GRCm39) R303C probably damaging Het
Lama2 T C 10: 27,100,015 (GRCm39) E830G probably benign Het
Lamb2 C T 9: 108,358,006 (GRCm39) T149I probably damaging Het
Mau2 T C 8: 70,480,153 (GRCm39) Y318C probably damaging Het
Mier2 T C 10: 79,377,496 (GRCm39) S486G probably benign Het
Mllt10 A G 2: 18,164,322 (GRCm39) D284G probably damaging Het
Nbea A T 3: 55,937,366 (GRCm39) S748R probably damaging Het
Ncoa6 A G 2: 155,248,133 (GRCm39) S1724P probably benign Het
Nipal4 T A 11: 46,052,922 (GRCm39) probably null Het
Nlrc4 G C 17: 74,753,736 (GRCm39) L216V probably benign Het
Ogfr A G 2: 180,235,417 (GRCm39) M164V possibly damaging Het
Or1o4 G T 17: 37,591,386 (GRCm39) probably benign Het
Or4b12 G A 2: 90,096,709 (GRCm39) Q22* probably null Het
Pcdha12 G T 18: 37,155,526 (GRCm39) W748C probably damaging Het
Pkd1l3 T C 8: 110,395,849 (GRCm39) V2083A probably damaging Het
Plin3 C A 17: 56,587,824 (GRCm39) G297V probably benign Het
Prex1 C T 2: 166,419,896 (GRCm39) R1260Q possibly damaging Het
Prpf38b A G 3: 108,818,619 (GRCm39) V47A probably benign Het
Ptch1 T C 13: 63,675,071 (GRCm39) T851A probably benign Het
Ptk7 T A 17: 46,887,744 (GRCm39) I563F possibly damaging Het
R3hcc1l G A 19: 42,507,203 (GRCm39) probably benign Het
Rapgef6 T C 11: 54,443,684 (GRCm39) V89A probably benign Het
Sh2b1 CTC CTCCGCCACGGGGACCAGTTC 7: 126,066,770 (GRCm39) probably benign Het
Sh2b1 AGCTCAGCCACGGGGACC AGCTCAGCCACGGGGACCCGCTCAGCCACGGGGACC 7: 126,066,750 (GRCm39) probably benign Het
Sh2b1 ACCAGCTC ACCAGCTCAGCCACGGGGGCCAGCTC 7: 126,066,765 (GRCm39) probably benign Het
Slain1 T A 14: 103,932,748 (GRCm39) V444E probably damaging Het
Slc10a5 T A 3: 10,400,532 (GRCm39) I43F possibly damaging Het
Smarca2 T C 19: 26,659,452 (GRCm39) F914S possibly damaging Het
Smarca5 A C 8: 81,428,840 (GRCm39) L1003V probably damaging Het
Spata18 A T 5: 73,829,840 (GRCm39) I332F Het
Spata31d1e A G 13: 59,890,806 (GRCm39) V338A probably damaging Het
Stard9 C G 2: 120,534,564 (GRCm39) P3607R probably damaging Het
Tbx19 A G 1: 164,966,546 (GRCm39) S443P unknown Het
Tktl2 C G 8: 66,965,840 (GRCm39) A466G probably damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmem129 A G 5: 33,815,122 (GRCm39) V17A probably benign Het
Tom1l2 T C 11: 60,153,486 (GRCm39) T164A probably damaging Het
Tor1aip1 T A 1: 155,906,177 (GRCm39) D205V probably damaging Het
Tpp2 T A 1: 44,017,648 (GRCm39) S751T probably benign Het
Trim11 G T 11: 58,878,477 (GRCm39) A251S unknown Het
Trim33 T C 3: 103,239,074 (GRCm39) V684A probably benign Het
Triobp C T 15: 78,877,378 (GRCm39) R1637C probably damaging Het
Trpm3 A G 19: 22,960,040 (GRCm39) N1225S probably benign Het
Usp21 T C 1: 171,112,503 (GRCm39) Y300C probably damaging Het
Usp32 T C 11: 84,913,560 (GRCm39) T924A probably damaging Het
Vmn1r198 A T 13: 22,539,015 (GRCm39) H167L possibly damaging Het
Vmn2r23 A G 6: 123,689,672 (GRCm39) T183A probably benign Het
Zc3h8 T C 2: 128,773,223 (GRCm39) Y213C probably damaging Het
Zcchc17 A T 4: 130,232,337 (GRCm39) D55E probably benign Het
Zfp408 A T 2: 91,478,368 (GRCm39) W26R probably damaging Het
Zfp937 G T 2: 150,080,890 (GRCm39) A307S possibly 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
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'- GCAGCCAGTGGATGTTTATGC -3'
(R):5'- TCCTACAGTGGAGGGATGTC -3'

Sequencing Primer
(F):5'- GTTTATGCACAAGGAAGTAAAATGTG -3'
(R):5'- TCCTTTCCAGATGAGACCCAC -3'
Posted On 2022-07-18