Incidental Mutation 'IGL01410:Ptprb'
ID79984
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptprb
Ensembl Gene ENSMUSG00000020154
Gene Nameprotein tyrosine phosphatase, receptor type, B
Synonyms3230402H02Rik, VE-PTP
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01410
Quality Score
Status
Chromosome10
Chromosomal Location116275523-116389535 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 116302274 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 361 (D361V)
Ref Sequence ENSEMBL: ENSMUSP00000151821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092167] [ENSMUST00000218553]
Predicted Effect probably benign
Transcript: ENSMUST00000092167
AA Change: D74V

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000089805
Gene: ENSMUSG00000020154
AA Change: D74V

DomainStartEndE-ValueType
FN3 22 102 8.23e1 SMART
FN3 111 193 1.73e-5 SMART
FN3 204 281 1.56e-3 SMART
FN3 290 366 6.45e-5 SMART
FN3 378 459 5e-2 SMART
FN3 468 546 1.61e-5 SMART
FN3 555 632 7.18e-3 SMART
FN3 644 724 7.52e-6 SMART
FN3 732 811 2.92e-3 SMART
FN3 820 899 2.76e-4 SMART
FN3 908 987 1.29e-4 SMART
FN3 996 1075 7.7e-3 SMART
FN3 1086 1166 1.21e0 SMART
FN3 1174 1253 5.08e-3 SMART
FN3 1262 1340 1.17e-7 SMART
FN3 1356 1435 2.68e-2 SMART
Blast:FN3 1450 1591 6e-88 BLAST
transmembrane domain 1620 1642 N/A INTRINSIC
Blast:PTPc 1643 1681 3e-11 BLAST
PTPc 1703 1966 1.05e-134 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217925
Predicted Effect possibly damaging
Transcript: ENSMUST00000218553
AA Change: D361V

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
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 contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality at E10, impaired vascular maintenace and remodeling, heart defects and abnormal yolk sac vasculature. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 T A 1: 58,106,025 probably null Het
Aspm C T 1: 139,482,444 T1359I probably benign Het
Atp13a2 A G 4: 140,992,198 D26G probably benign Het
Atrnl1 G A 19: 58,131,104 A1343T probably damaging Het
Ccsap A C 8: 123,859,230 S61A probably damaging Het
Cdh1 A T 8: 106,657,853 M318L probably benign Het
Cfap69 G A 5: 5,646,979 P106S probably damaging Het
Cfp G A X: 20,929,724 T88I probably damaging Het
Chst1 A T 2: 92,614,130 I316F probably damaging Het
Col7a1 A T 9: 108,964,618 D1382V unknown Het
Cr2 T A 1: 195,163,234 M514L possibly damaging Het
Cubn G A 2: 13,465,908 H558Y probably benign Het
Cul9 A T 17: 46,528,646 M802K probably damaging Het
Dennd2d A T 3: 106,491,226 I169L probably damaging Het
Dnah11 T A 12: 118,047,256 K162* probably null Het
Dnah3 T A 7: 119,967,720 T2428S possibly damaging Het
Dock11 T A X: 36,037,643 H1284Q probably damaging Het
Flrt2 T A 12: 95,779,192 D101E probably damaging Het
Gabrr2 G A 4: 33,085,626 V349M probably damaging Het
Gli2 C A 1: 118,836,891 V1177L probably benign Het
Gm16506 A G 14: 43,724,173 Y206H probably benign Het
Gm1966 C T 7: 106,603,051 noncoding transcript Het
Gm5612 C T 9: 18,427,573 probably benign Het
Heg1 C T 16: 33,725,566 T460I possibly damaging Het
Lgals9 T G 11: 78,973,151 D56A probably damaging Het
Lpgat1 A T 1: 191,776,432 probably null Het
Megf6 T A 4: 154,252,563 probably null Het
Megf8 G A 7: 25,359,871 M2265I probably benign Het
Memo1 G A 17: 74,241,981 R121* probably null Het
Morc1 T C 16: 48,612,314 V715A probably benign Het
Mycbp2 A T 14: 103,229,492 probably null Het
Ncapg2 T A 12: 116,424,650 V318D possibly damaging Het
Ndst1 T C 18: 60,700,445 Y498C probably damaging Het
Nod1 C T 6: 54,944,356 A326T probably damaging Het
Olfr1206 T A 2: 88,865,520 M305K probably benign Het
Olfr697 A G 7: 106,741,499 V145A probably benign Het
Peg3 T C 7: 6,707,625 S1533G probably benign Het
Pgc G T 17: 47,734,240 G361V probably damaging Het
Phka1 C T X: 102,586,106 R477H probably damaging Het
Plagl2 C T 2: 153,232,654 R109Q probably damaging Het
Prr36 T A 8: 4,216,230 I107F probably benign Het
Ptpdc1 T A 13: 48,586,604 R450S probably damaging Het
Rbm44 A G 1: 91,168,829 D970G probably benign Het
Scrn2 T G 11: 97,030,570 V52G probably benign Het
Sdk1 C T 5: 142,212,120 T2176I probably benign Het
Serpina1d T A 12: 103,763,734 E396D probably benign Het
Slc38a5 A C X: 8,279,831 Q465P probably benign Het
Slc38a5 G T X: 8,279,832 Q465H probably benign Het
Smarca1 T C X: 47,892,378 T48A possibly damaging Het
Trak2 A T 1: 58,923,607 I132N probably damaging Het
Trank1 T C 9: 111,365,259 S784P probably benign Het
Trank1 A G 9: 111,365,049 T714A probably benign Het
Trp53i13 G A 11: 77,508,257 probably benign Het
Trrap A C 5: 144,831,021 D2596A probably benign Het
Ttyh1 A T 7: 4,124,657 T19S probably damaging Het
Tyk2 C T 9: 21,109,364 V947M probably damaging Het
Ugt2b34 G A 5: 86,892,830 A411V possibly damaging Het
Virma T A 4: 11,518,929 Y725* probably null Het
Vmn1r192 A G 13: 22,187,909 L47P probably damaging Het
Vmn2r74 T C 7: 85,961,292 D64G possibly damaging Het
Other mutations in Ptprb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Ptprb APN 10 116362648 missense probably benign 0.15
IGL01354:Ptprb APN 10 116343891 missense probably benign 0.24
IGL01404:Ptprb APN 10 116339436 missense probably benign 0.14
IGL01412:Ptprb APN 10 116343915 missense probably benign 0.27
IGL01731:Ptprb APN 10 116372876 missense probably damaging 1.00
IGL02003:Ptprb APN 10 116367505 missense probably damaging 1.00
IGL02110:Ptprb APN 10 116331203 splice site probably benign
IGL02178:Ptprb APN 10 116322532 missense probably benign 0.00
IGL02304:Ptprb APN 10 116331259 missense probably damaging 1.00
IGL02324:Ptprb APN 10 116319333 missense probably benign 0.03
IGL02388:Ptprb APN 10 116367521 missense probably damaging 1.00
IGL02640:Ptprb APN 10 116338664 missense probably damaging 0.99
IGL02698:Ptprb APN 10 116363280 missense probably benign 0.05
IGL02876:Ptprb APN 10 116348211 splice site probably benign
IGL02879:Ptprb APN 10 116327968 missense probably benign
IGL02982:Ptprb APN 10 116322628 missense probably benign 0.20
IGL03146:Ptprb APN 10 116328127 missense probably benign 0.14
IGL03351:Ptprb APN 10 116339582 missense probably benign 0.03
R0306:Ptprb UTSW 10 116343988 missense probably benign 0.04
R0385:Ptprb UTSW 10 116350178 missense probably benign 0.00
R0600:Ptprb UTSW 10 116368807 missense possibly damaging 0.63
R0613:Ptprb UTSW 10 116302325 missense possibly damaging 0.59
R0613:Ptprb UTSW 10 116302378 missense possibly damaging 0.87
R0850:Ptprb UTSW 10 116302125 missense possibly damaging 0.87
R0850:Ptprb UTSW 10 116339510 missense probably damaging 1.00
R1331:Ptprb UTSW 10 116367532 missense probably damaging 1.00
R1413:Ptprb UTSW 10 116339679 missense probably damaging 1.00
R1418:Ptprb UTSW 10 116319470 missense probably benign 0.00
R1545:Ptprb UTSW 10 116380869 missense probably damaging 1.00
R1562:Ptprb UTSW 10 116339467 missense probably benign 0.00
R1752:Ptprb UTSW 10 116340990 missense probably benign 0.44
R1837:Ptprb UTSW 10 116341626 missense probably benign 0.00
R1940:Ptprb UTSW 10 116319610 splice site probably benign
R1958:Ptprb UTSW 10 116341536 missense probably benign 0.10
R2029:Ptprb UTSW 10 116347053 missense probably benign 0.37
R2031:Ptprb UTSW 10 116317543 missense probably benign
R2101:Ptprb UTSW 10 116315038 splice site probably benign
R2209:Ptprb UTSW 10 116369357 missense probably damaging 1.00
R3016:Ptprb UTSW 10 116357295 missense possibly damaging 0.64
R3076:Ptprb UTSW 10 116344026 missense probably damaging 0.99
R3821:Ptprb UTSW 10 116350074 missense probably benign 0.11
R3824:Ptprb UTSW 10 116350789 missense probably benign 0.05
R3825:Ptprb UTSW 10 116350789 missense probably benign 0.05
R3841:Ptprb UTSW 10 116346982 missense possibly damaging 0.79
R3953:Ptprb UTSW 10 116341494 missense probably benign 0.00
R4125:Ptprb UTSW 10 116353849 missense probably benign 0.12
R4227:Ptprb UTSW 10 116302225 missense possibly damaging 0.96
R4385:Ptprb UTSW 10 116346867 missense probably benign
R4731:Ptprb UTSW 10 116319333 missense probably benign 0.03
R5009:Ptprb UTSW 10 116348127 missense possibly damaging 0.61
R5104:Ptprb UTSW 10 116322459 missense probably benign 0.17
R5114:Ptprb UTSW 10 116348183 missense possibly damaging 0.59
R5145:Ptprb UTSW 10 116343915 missense probably benign 0.27
R5214:Ptprb UTSW 10 116369324 missense possibly damaging 0.75
R5382:Ptprb UTSW 10 116353871 missense probably damaging 1.00
R5553:Ptprb UTSW 10 116350185 missense probably damaging 1.00
R5585:Ptprb UTSW 10 116380854 missense probably damaging 0.98
R5586:Ptprb UTSW 10 116353827 missense probably damaging 1.00
R5808:Ptprb UTSW 10 116339487 missense probably benign 0.00
R5875:Ptprb UTSW 10 116348166 missense probably benign 0.00
R6051:Ptprb UTSW 10 116341090 nonsense probably null
R6383:Ptprb UTSW 10 116347007 nonsense probably null
R6511:Ptprb UTSW 10 116346820 missense probably damaging 1.00
R6817:Ptprb UTSW 10 116283677 small deletion probably benign
R6826:Ptprb UTSW 10 116317372 missense probably benign 0.26
R6958:Ptprb UTSW 10 116277248 missense probably benign 0.32
R7103:Ptprb UTSW 10 116338813 missense probably damaging 1.00
R7129:Ptprb UTSW 10 116283677 small deletion probably benign
R7181:Ptprb UTSW 10 116368766 missense probably damaging 1.00
R7215:Ptprb UTSW 10 116338776 missense possibly damaging 0.94
R7289:Ptprb UTSW 10 116328165 missense probably damaging 0.99
R7315:Ptprb UTSW 10 116362379 missense possibly damaging 0.83
R7319:Ptprb UTSW 10 116341404 missense probably benign 0.01
R7381:Ptprb UTSW 10 116341133 missense probably benign
R7412:Ptprb UTSW 10 116341138 missense probably benign
R7483:Ptprb UTSW 10 116283429 missense probably benign 0.01
R7495:Ptprb UTSW 10 116341448 missense probably benign 0.12
R7508:Ptprb UTSW 10 116353991 nonsense probably null
R7571:Ptprb UTSW 10 116339430 missense probably damaging 1.00
X0020:Ptprb UTSW 10 116302180 missense possibly damaging 0.62
Posted On2013-11-05