Incidental Mutation 'R2511:Ptprm'
ID 253042
Institutional Source Beutler Lab
Gene Symbol Ptprm
Ensembl Gene ENSMUSG00000033278
Gene Name protein tyrosine phosphatase receptor type M
Synonyms RPTPmu
MMRRC Submission 040417-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2511 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 66973942-67661452 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67000773 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1128 (H1128R)
Ref Sequence ENSEMBL: ENSMUSP00000045603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037974] [ENSMUST00000223982]
AlphaFold P28828
Predicted Effect probably damaging
Transcript: ENSMUST00000037974
AA Change: H1128R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: H1128R

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: H1094R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225074
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,097,902 (GRCm39) C100S probably damaging Het
Abcc8 C T 7: 45,800,204 (GRCm39) R526H probably damaging Het
Acad10 G A 5: 121,769,630 (GRCm39) P609S probably benign Het
Acod1 A T 14: 103,288,775 (GRCm39) D95V probably damaging Het
Acsm5 A T 7: 119,129,677 (GRCm39) I130F possibly damaging Het
Ago4 A T 4: 126,410,864 (GRCm39) D208E probably damaging Het
Agrn A T 4: 156,250,881 (GRCm39) probably null Het
Ankar A T 1: 72,697,853 (GRCm39) I791K probably damaging Het
Ano10 A G 9: 122,088,011 (GRCm39) V364A probably damaging Het
Arhgap9 T C 10: 127,164,854 (GRCm39) probably null Het
Arsi G A 18: 61,049,666 (GRCm39) C183Y probably damaging Het
Ascl2 T G 7: 142,521,953 (GRCm39) E97A probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bms1 C T 6: 118,368,114 (GRCm39) probably null Het
Bysl T A 17: 47,915,260 (GRCm39) T163S probably benign Het
Card10 A G 15: 78,664,473 (GRCm39) I821T probably benign Het
Cc2d2a A T 5: 43,892,737 (GRCm39) Q1433L probably damaging Het
Cchcr1 T C 17: 35,841,410 (GRCm39) S809P probably benign Het
Ccz1 G T 5: 143,949,815 (GRCm39) T70K probably damaging Het
Cdc25c G C 18: 34,871,292 (GRCm39) L275V probably damaging Het
Cep164 A T 9: 45,686,547 (GRCm39) L729Q probably damaging Het
Clcn6 A G 4: 148,101,951 (GRCm39) probably null Het
Clcn7 T A 17: 25,374,420 (GRCm39) V507E probably damaging Het
Cracdl T C 1: 37,664,381 (GRCm39) M506V probably benign Het
Ctso A C 3: 81,840,041 (GRCm39) T24P probably damaging Het
Dis3l2 A T 1: 86,917,980 (GRCm39) N543I probably benign Het
Dnah12 A T 14: 26,491,907 (GRCm39) Y1114F possibly damaging Het
Emx1 A G 6: 85,181,033 (GRCm39) D250G probably benign Het
Epha4 G A 1: 77,488,339 (GRCm39) A47V possibly damaging Het
Fam149b A C 14: 20,428,524 (GRCm39) N341T probably damaging Het
Fsip2 A G 2: 82,782,001 (GRCm39) K62R probably damaging Het
Fsip2 T C 2: 82,816,782 (GRCm39) S4172P probably benign Het
Gbp3 A G 3: 142,276,343 (GRCm39) R480G probably benign Het
Get3 A G 8: 85,746,395 (GRCm39) V151A possibly damaging Het
Gja8 T G 3: 96,827,033 (GRCm39) T210P probably damaging Het
Gm5431 T A 11: 48,779,536 (GRCm39) N740I probably benign Het
Gm9930 T C 10: 9,410,446 (GRCm39) noncoding transcript Het
Gstt4 C T 10: 75,650,959 (GRCm39) C221Y probably benign Het
Gzmg A T 14: 56,395,832 (GRCm39) D42E probably benign Het
Hoxd12 G A 2: 74,505,815 (GRCm39) A129T possibly damaging Het
Hs2st1 G A 3: 144,275,691 (GRCm39) probably benign Het
Ifnlr1 G T 4: 135,432,559 (GRCm39) D332Y probably damaging Het
Igsf10 T C 3: 59,239,287 (GRCm39) D298G probably damaging Het
Irf1 T C 11: 53,664,617 (GRCm39) V108A probably damaging Het
Jsrp1 C G 10: 80,648,140 (GRCm39) S36T probably benign Het
Kcnq5 T A 1: 21,576,006 (GRCm39) R233* probably null Het
Kif7 T C 7: 79,352,012 (GRCm39) K917E probably damaging Het
Krt7 A C 15: 101,310,538 (GRCm39) I62L probably benign Het
Lifr A G 15: 7,196,397 (GRCm39) T194A probably benign Het
Ltbp2 T C 12: 84,851,183 (GRCm39) probably null Het
Maco1 A G 4: 134,531,699 (GRCm39) S657P probably damaging Het
Man2c1 A G 9: 57,048,672 (GRCm39) probably null Het
Met T C 6: 17,491,966 (GRCm39) S243P probably damaging Het
Mllt10 C A 2: 18,069,935 (GRCm39) D30E possibly damaging Het
Mre11a A C 9: 14,707,065 (GRCm39) probably null Het
Mroh9 A G 1: 162,866,514 (GRCm39) S710P probably benign Het
Mvk C A 5: 114,588,459 (GRCm39) Y116* probably null Het
Myh1 A G 11: 67,096,423 (GRCm39) I301V probably benign Het
Ncf1 T C 5: 134,254,552 (GRCm39) D184G probably damaging Het
Nxpe4 T C 9: 48,304,533 (GRCm39) F207L probably damaging Het
Or2ag18 G T 7: 106,405,168 (GRCm39) P167H probably damaging Het
Or2y1b T G 11: 49,209,048 (GRCm39) L225R probably damaging Het
Or4k51 T A 2: 111,584,661 (GRCm39) N22K probably benign Het
Or52b1 A T 7: 104,978,817 (GRCm39) I194N probably damaging Het
Or5b24 T A 19: 12,912,537 (GRCm39) M145K possibly damaging Het
Or5w14 T C 2: 87,541,392 (GRCm39) N286S probably damaging Het
Pcdh1 G A 18: 38,332,532 (GRCm39) T296M possibly damaging Het
Pcdh15 A G 10: 74,481,828 (GRCm39) D391G possibly damaging Het
Pcdha7 C A 18: 37,107,786 (GRCm39) D270E probably damaging Het
Pgam1 C A 19: 41,904,315 (GRCm39) S137R probably damaging Het
Pitpnm2 T C 5: 124,274,389 (GRCm39) E240G probably damaging Het
Plce1 T G 19: 38,748,498 (GRCm39) I1729S probably damaging Het
Plppr4 G T 3: 117,125,355 (GRCm39) N161K probably damaging Het
Pramel27 G A 4: 143,578,561 (GRCm39) V274I probably benign Het
Prkce T A 17: 86,932,754 (GRCm39) I578N probably damaging Het
Prss58 A C 6: 40,874,734 (GRCm39) S36A probably damaging Het
Rgs9 T C 11: 109,159,798 (GRCm39) Y178C probably benign Het
Rubcn T C 16: 32,667,624 (GRCm39) N179S probably damaging Het
Sh3bp1 C T 15: 78,795,706 (GRCm39) P612S probably damaging Het
Sh3bp5 G A 14: 31,133,586 (GRCm39) T82M probably damaging Het
Shank2 A G 7: 143,965,314 (GRCm39) Y974C probably damaging Het
Slc9c1 T C 16: 45,365,099 (GRCm39) I144T possibly damaging Het
Slf2 T C 19: 44,930,045 (GRCm39) I374T possibly damaging Het
Snx13 A G 12: 35,188,080 (GRCm39) D786G probably benign Het
Spcs3 A G 8: 54,976,389 (GRCm39) V151A possibly damaging Het
Sstr2 A T 11: 113,515,749 (GRCm39) I223F probably damaging Het
Stac3 T C 10: 127,339,787 (GRCm39) probably null Het
Tas1r2 A G 4: 139,387,162 (GRCm39) N207S probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tgm5 T C 2: 120,907,429 (GRCm39) E98G possibly damaging Het
Tktl2 A G 8: 66,965,504 (GRCm39) E354G probably benign Het
Tmem94 G A 11: 115,682,787 (GRCm39) R608H probably damaging Het
Tnrc6a G A 7: 122,770,315 (GRCm39) V702I probably damaging Het
Trappc10 A G 10: 78,047,357 (GRCm39) S380P possibly damaging Het
Trim24 G A 6: 37,880,587 (GRCm39) probably null Het
Ugt1a2 A G 1: 88,128,846 (GRCm39) Y163C probably damaging Het
Vmn1r215 A G 13: 23,260,343 (GRCm39) I128V probably benign Het
Vmn2r50 T A 7: 9,781,640 (GRCm39) E368D possibly damaging Het
Vmn2r59 T C 7: 41,693,190 (GRCm39) N470S probably damaging Het
Vps45 T C 3: 95,948,757 (GRCm39) T333A probably benign Het
Zbtb44 T A 9: 30,965,539 (GRCm39) D316E probably damaging Het
Zdhhc1 C T 8: 106,210,190 (GRCm39) V76M probably benign Het
Zfp235 T C 7: 23,841,549 (GRCm39) F656S 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
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
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'- GAAGCAACCTGTCCTTCCTG -3'
(R):5'- GCTCTCAGAAGCTTTGCCTC -3'

Sequencing Primer
(F):5'- TCCAGCACTGCTCAGAGAG -3'
(R):5'- AGAAGCTTTGCCTCCCTGC -3'
Posted On 2014-12-04