Incidental Mutation 'IGL00497:Ptprm'
ID3437
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptprm
Ensembl Gene ENSMUSG00000033278
Gene Nameprotein tyrosine phosphatase, receptor type, M
SynonymsRPTPmu
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00497
Quality Score
Status
Chromosome17
Chromosomal Location66666947-67354457 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 66817972 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 794 (L794P)
Ref Sequence ENSEMBL: ENSMUSP00000153463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037974] [ENSMUST00000223982] [ENSMUST00000224091]
Predicted Effect probably damaging
Transcript: ENSMUST00000037974
AA Change: L794P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: L794P

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 possibly damaging
Transcript: ENSMUST00000223982
AA Change: L769P

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably damaging
Transcript: ENSMUST00000224091
AA Change: L794P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225688
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik A G 11: 78,272,933 N1076D probably damaging Het
4930579G24Rik G A 3: 79,631,291 probably benign Het
Aatk C T 11: 120,010,186 R1128Q probably benign Het
Acot6 C T 12: 84,109,438 R387C probably damaging Het
Adam11 A G 11: 102,770,147 E118G probably damaging Het
Adcyap1r1 G A 6: 55,472,279 V73I probably damaging Het
Apol8 T C 15: 77,750,014 T121A probably damaging Het
Ccdc91 C A 6: 147,606,987 Q404K unknown Het
Cpt1b T C 15: 89,422,293 K294R probably benign Het
Dnah6 A C 6: 73,195,761 V238G probably damaging Het
Dscaml1 T C 9: 45,752,238 S1920P probably damaging Het
Gcfc2 A T 6: 81,957,970 I737L probably benign Het
Gm1840 T C 8: 5,640,563 noncoding transcript Het
Gmeb1 A G 4: 132,227,985 V293A probably benign Het
Hibch A G 1: 52,885,190 probably benign Het
Ifnab A G 4: 88,691,182 Y16H probably benign Het
Il17rc T C 6: 113,474,171 V155A probably damaging Het
Lrr1 A G 12: 69,174,582 H166R probably benign Het
Map4k5 G T 12: 69,845,732 A141E probably damaging Het
Mettl17 A T 14: 51,888,835 K233N probably damaging Het
Mon2 A G 10: 123,026,299 L740S probably damaging Het
Mpdz A C 4: 81,335,742 I1051S probably benign Het
Mroh8 A G 2: 157,216,914 F944S probably damaging Het
Myh13 A G 11: 67,342,488 Y611C probably damaging Het
Npat A G 9: 53,566,800 N951D possibly damaging Het
Osmr T C 15: 6,847,066 S126G probably benign Het
Parp14 T C 16: 35,834,836 Y1755C probably damaging Het
Phf14 T C 6: 11,941,424 probably benign Het
Prex2 T A 1: 11,186,652 M1196K possibly damaging Het
Prkd1 A T 12: 50,383,481 D614E probably damaging Het
Rb1 C T 14: 73,264,598 R449H probably damaging Het
Scfd1 A G 12: 51,427,869 D469G probably benign Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Sgo1 A G 17: 53,677,102 probably benign Het
Slc11a1 A G 1: 74,381,898 probably null Het
Snw1 A G 12: 87,452,580 probably null Het
Stac3 T C 10: 127,503,664 I143T probably damaging Het
Tcta A T 9: 108,305,916 L10Q probably damaging Het
Tha1 T C 11: 117,871,005 probably benign Het
Trmt1 T C 8: 84,695,509 M254T possibly damaging Het
Trps1 T A 15: 50,661,307 M887L possibly damaging Het
Zfyve28 A G 5: 34,243,195 V53A probably damaging Het
Other mutations in Ptprm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Ptprm APN 17 67042101 missense probably damaging 1.00
IGL01509:Ptprm APN 17 66762213 missense possibly damaging 0.95
IGL01785:Ptprm APN 17 66685623 missense probably damaging 1.00
IGL01912:Ptprm APN 17 67046118 missense probably benign 0.13
IGL01929:Ptprm APN 17 66690549 missense probably damaging 1.00
IGL01937:Ptprm APN 17 67046163 splice site probably benign
IGL01939:Ptprm APN 17 67063163 splice site probably benign
IGL02053:Ptprm APN 17 66693841 missense probably damaging 1.00
IGL02203:Ptprm APN 17 66953123 missense probably damaging 1.00
IGL02468:Ptprm APN 17 66814509 missense probably benign 0.02
IGL02500:Ptprm APN 17 66920048 missense probably damaging 0.99
IGL02542:Ptprm APN 17 66920150 missense probably benign
Becalming UTSW 17 66944332 splice site probably null
Pacifying UTSW 17 66683408 missense possibly damaging 0.74
R0674:Ptprm UTSW 17 67191341 missense possibly damaging 0.52
R0709:Ptprm UTSW 17 66944332 splice site probably null
R1054:Ptprm UTSW 17 67042318 missense probably damaging 1.00
R1522:Ptprm UTSW 17 66693871 missense possibly damaging 0.91
R1561:Ptprm UTSW 17 66940541 missense probably damaging 1.00
R1726:Ptprm UTSW 17 67042327 missense probably damaging 1.00
R1744:Ptprm UTSW 17 66689366 missense probably damaging 1.00
R1873:Ptprm UTSW 17 66688355 missense probably damaging 1.00
R1951:Ptprm UTSW 17 66940580 missense probably benign 0.07
R1952:Ptprm UTSW 17 66940580 missense probably benign 0.07
R1953:Ptprm UTSW 17 66940580 missense probably benign 0.07
R1993:Ptprm UTSW 17 66747160 missense probably damaging 1.00
R2017:Ptprm UTSW 17 66957153 intron probably null
R2266:Ptprm UTSW 17 66725851 splice site probably null
R2417:Ptprm UTSW 17 66944326 missense probably damaging 0.97
R2511:Ptprm UTSW 17 66693778 missense probably damaging 1.00
R3726:Ptprm UTSW 17 66956860 missense possibly damaging 0.91
R3824:Ptprm UTSW 17 66809575 missense probably benign 0.40
R4057:Ptprm UTSW 17 67075663 missense possibly damaging 0.93
R4113:Ptprm UTSW 17 66725813 missense probably damaging 1.00
R4559:Ptprm UTSW 17 66683408 missense possibly damaging 0.74
R4598:Ptprm UTSW 17 67095497 missense probably benign 0.00
R4742:Ptprm UTSW 17 66744751 nonsense probably null
R4974:Ptprm UTSW 17 66678067 missense probably benign 0.01
R5157:Ptprm UTSW 17 66957097 missense probably benign 0.09
R5433:Ptprm UTSW 17 66693473 missense probably damaging 1.00
R5509:Ptprm UTSW 17 66689358 missense probably damaging 1.00
R5586:Ptprm UTSW 17 66920196 missense probably damaging 1.00
R5820:Ptprm UTSW 17 66689465 missense probably damaging 1.00
R5867:Ptprm UTSW 17 67045981 splice site probably null
R6044:Ptprm UTSW 17 66693862 missense probably damaging 1.00
R6229:Ptprm UTSW 17 66688300 missense probably damaging 1.00
R6615:Ptprm UTSW 17 67353956 critical splice donor site probably null
R6969:Ptprm UTSW 17 66912418 missense possibly damaging 0.63
R7135:Ptprm UTSW 17 66944288 missense possibly damaging 0.93
R7161:Ptprm UTSW 17 66809627 missense probably benign 0.21
R7410:Ptprm UTSW 17 66693566 missense probably damaging 0.99
R7476:Ptprm UTSW 17 66725791 missense probably benign 0.01
R7789:Ptprm UTSW 17 67095539 missense probably damaging 1.00
R8027:Ptprm UTSW 17 66944205 missense probably damaging 1.00
R8089:Ptprm UTSW 17 66683488 missense possibly damaging 0.63
Posted On2012-04-20