Incidental Mutation 'IGL02178:Ptprb'
ID 283199
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptprb
Ensembl Gene ENSMUSG00000020154
Gene Name protein tyrosine phosphatase receptor type B
Synonyms 3230402H02Rik, VE-PTP
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02178
Quality Score
Status
Chromosome 10
Chromosomal Location 116111428-116225440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116158437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 503 (M503L)
Ref Sequence ENSEMBL: ENSMUSP00000089805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092167] [ENSMUST00000218553]
AlphaFold B2RU80
Predicted Effect probably benign
Transcript: ENSMUST00000092167
AA Change: M503L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000089805
Gene: ENSMUSG00000020154
AA Change: M503L

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 probably benign
Transcript: ENSMUST00000218553
AA Change: M790L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,384,418 (GRCm39) T516S possibly damaging Het
6820408C15Rik T C 2: 152,269,921 (GRCm39) probably benign Het
Ak5 T C 3: 152,232,422 (GRCm39) D331G probably benign Het
Ar A G X: 97,349,044 (GRCm39) D675G probably damaging Het
Arhgap23 A G 11: 97,343,179 (GRCm39) D276G probably benign Het
Arhgef3 C T 14: 26,987,486 (GRCm39) R40* probably null Het
Atp1b4 G T X: 37,421,695 (GRCm39) R293L possibly damaging Het
Borcs8 T C 8: 70,617,897 (GRCm39) L85P probably damaging Het
Carmil1 T G 13: 24,278,386 (GRCm39) K194N probably damaging Het
Catsper4 T A 4: 133,954,637 (GRCm39) K4N probably benign Het
Ccdc30 T C 4: 119,206,921 (GRCm39) probably benign Het
Cd101 A G 3: 100,901,082 (GRCm39) S997P probably damaging Het
Cdkl5 G A X: 159,599,889 (GRCm39) T792I probably benign Het
Cep135 A G 5: 76,743,321 (GRCm39) Y185C probably damaging Het
Clcn5 A G X: 7,052,563 (GRCm39) Y59H possibly damaging Het
Col6a1 A T 10: 76,546,909 (GRCm39) I771N unknown Het
Crispld1 C T 1: 17,832,327 (GRCm39) probably benign Het
Fbxl13 A G 5: 21,825,718 (GRCm39) I128T possibly damaging Het
Gga1 T A 15: 78,776,247 (GRCm39) M430K probably benign Het
Has2 A G 15: 56,545,456 (GRCm39) Y49H probably damaging Het
Ivd A G 2: 118,701,915 (GRCm39) I116V probably benign Het
Krt75 T C 15: 101,481,226 (GRCm39) N183D probably benign Het
Map3k9 A T 12: 81,790,611 (GRCm39) I314N probably damaging Het
Map6d1 T G 16: 20,055,448 (GRCm39) E129D probably damaging Het
Mettl22 T C 16: 8,296,146 (GRCm39) V145A probably benign Het
Muc5ac T A 7: 141,359,184 (GRCm39) probably benign Het
Mycbp2 A G 14: 103,461,802 (GRCm39) F1416L probably benign Het
Nlrc4 T C 17: 74,753,838 (GRCm39) I182V probably damaging Het
Or5b21 T A 19: 12,839,907 (GRCm39) I256N possibly damaging Het
Or7a35 T C 10: 78,853,554 (GRCm39) Y133H possibly damaging Het
Phc3 T C 3: 30,984,012 (GRCm39) T668A possibly damaging Het
Pheta2 T A 15: 82,227,527 (GRCm39) D15E possibly damaging Het
Ppp2r2a T C 14: 67,260,546 (GRCm39) Y244C probably damaging Het
Prkcq A C 2: 11,281,851 (GRCm39) Y460S possibly damaging Het
Prmt8 T A 6: 127,674,770 (GRCm39) E286V probably benign Het
Ptprq A T 10: 107,522,180 (GRCm39) D590E probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rps6kc1 A T 1: 190,604,033 (GRCm39) S196R possibly damaging Het
Ryr3 A G 2: 112,656,144 (GRCm39) Y1951H probably benign Het
Sbno1 A T 5: 124,538,258 (GRCm39) probably null Het
Sde2 T G 1: 180,678,796 (GRCm39) L20R possibly damaging Het
Slco1a5 A T 6: 142,208,414 (GRCm39) C81* probably null Het
Snx2 A G 18: 53,332,857 (GRCm39) E177G possibly damaging Het
Spg11 A T 2: 121,927,783 (GRCm39) V667D probably damaging Het
Tas2r115 T C 6: 132,714,271 (GRCm39) T227A probably benign Het
Tmed9 A G 13: 55,741,108 (GRCm39) H41R possibly damaging Het
Vmn1r35 T G 6: 66,656,086 (GRCm39) S28R probably damaging Het
Vmn2r110 A C 17: 20,804,706 (GRCm39) probably null Het
Vstm2l T C 2: 157,777,337 (GRCm39) Y72H probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Zbtb4 A T 11: 69,667,255 (GRCm39) R187* probably null Het
Zfp598 A G 17: 24,896,517 (GRCm39) D198G probably damaging Het
Zp2 G T 7: 119,732,973 (GRCm39) A629E possibly damaging Het
Other mutations in Ptprb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Ptprb APN 10 116,198,553 (GRCm39) missense probably benign 0.15
IGL01354:Ptprb APN 10 116,179,796 (GRCm39) missense probably benign 0.24
IGL01404:Ptprb APN 10 116,175,341 (GRCm39) missense probably benign 0.14
IGL01410:Ptprb APN 10 116,138,179 (GRCm39) missense possibly damaging 0.60
IGL01412:Ptprb APN 10 116,179,820 (GRCm39) missense probably benign 0.27
IGL01731:Ptprb APN 10 116,208,781 (GRCm39) missense probably damaging 1.00
IGL02003:Ptprb APN 10 116,203,410 (GRCm39) missense probably damaging 1.00
IGL02110:Ptprb APN 10 116,167,108 (GRCm39) splice site probably benign
IGL02304:Ptprb APN 10 116,167,164 (GRCm39) missense probably damaging 1.00
IGL02324:Ptprb APN 10 116,155,238 (GRCm39) missense probably benign 0.03
IGL02388:Ptprb APN 10 116,203,426 (GRCm39) missense probably damaging 1.00
IGL02640:Ptprb APN 10 116,174,569 (GRCm39) missense probably damaging 0.99
IGL02698:Ptprb APN 10 116,199,185 (GRCm39) missense probably benign 0.05
IGL02876:Ptprb APN 10 116,184,116 (GRCm39) splice site probably benign
IGL02879:Ptprb APN 10 116,163,873 (GRCm39) missense probably benign
IGL02982:Ptprb APN 10 116,158,533 (GRCm39) missense probably benign 0.20
IGL03146:Ptprb APN 10 116,164,032 (GRCm39) missense probably benign 0.14
IGL03351:Ptprb APN 10 116,175,487 (GRCm39) missense probably benign 0.03
R0306:Ptprb UTSW 10 116,179,893 (GRCm39) missense probably benign 0.04
R0385:Ptprb UTSW 10 116,186,083 (GRCm39) missense probably benign 0.00
R0600:Ptprb UTSW 10 116,204,712 (GRCm39) missense possibly damaging 0.63
R0613:Ptprb UTSW 10 116,138,283 (GRCm39) missense possibly damaging 0.87
R0613:Ptprb UTSW 10 116,138,230 (GRCm39) missense possibly damaging 0.59
R0850:Ptprb UTSW 10 116,175,415 (GRCm39) missense probably damaging 1.00
R0850:Ptprb UTSW 10 116,138,030 (GRCm39) missense possibly damaging 0.87
R1331:Ptprb UTSW 10 116,203,437 (GRCm39) missense probably damaging 1.00
R1413:Ptprb UTSW 10 116,175,584 (GRCm39) missense probably damaging 1.00
R1418:Ptprb UTSW 10 116,155,375 (GRCm39) missense probably benign 0.00
R1545:Ptprb UTSW 10 116,216,774 (GRCm39) missense probably damaging 1.00
R1562:Ptprb UTSW 10 116,175,372 (GRCm39) missense probably benign 0.00
R1752:Ptprb UTSW 10 116,176,895 (GRCm39) missense probably benign 0.44
R1837:Ptprb UTSW 10 116,177,531 (GRCm39) missense probably benign 0.00
R1940:Ptprb UTSW 10 116,155,515 (GRCm39) splice site probably benign
R1958:Ptprb UTSW 10 116,177,441 (GRCm39) missense probably benign 0.10
R2029:Ptprb UTSW 10 116,182,958 (GRCm39) missense probably benign 0.37
R2031:Ptprb UTSW 10 116,153,448 (GRCm39) missense probably benign
R2101:Ptprb UTSW 10 116,150,943 (GRCm39) splice site probably benign
R2209:Ptprb UTSW 10 116,205,262 (GRCm39) missense probably damaging 1.00
R3016:Ptprb UTSW 10 116,193,200 (GRCm39) missense possibly damaging 0.64
R3076:Ptprb UTSW 10 116,179,931 (GRCm39) missense probably damaging 0.99
R3821:Ptprb UTSW 10 116,185,979 (GRCm39) missense probably benign 0.11
R3824:Ptprb UTSW 10 116,186,694 (GRCm39) missense probably benign 0.05
R3825:Ptprb UTSW 10 116,186,694 (GRCm39) missense probably benign 0.05
R3841:Ptprb UTSW 10 116,182,887 (GRCm39) missense possibly damaging 0.79
R3953:Ptprb UTSW 10 116,177,399 (GRCm39) missense probably benign 0.00
R4125:Ptprb UTSW 10 116,189,754 (GRCm39) missense probably benign 0.12
R4227:Ptprb UTSW 10 116,138,130 (GRCm39) missense possibly damaging 0.96
R4385:Ptprb UTSW 10 116,182,772 (GRCm39) missense probably benign
R4731:Ptprb UTSW 10 116,155,238 (GRCm39) missense probably benign 0.03
R5009:Ptprb UTSW 10 116,184,032 (GRCm39) missense possibly damaging 0.61
R5104:Ptprb UTSW 10 116,158,364 (GRCm39) missense probably benign 0.17
R5114:Ptprb UTSW 10 116,184,088 (GRCm39) missense possibly damaging 0.59
R5145:Ptprb UTSW 10 116,179,820 (GRCm39) missense probably benign 0.27
R5214:Ptprb UTSW 10 116,205,229 (GRCm39) missense possibly damaging 0.75
R5382:Ptprb UTSW 10 116,189,776 (GRCm39) missense probably damaging 1.00
R5553:Ptprb UTSW 10 116,186,090 (GRCm39) missense probably damaging 1.00
R5585:Ptprb UTSW 10 116,216,759 (GRCm39) missense probably damaging 0.98
R5586:Ptprb UTSW 10 116,189,732 (GRCm39) missense probably damaging 1.00
R5808:Ptprb UTSW 10 116,175,392 (GRCm39) missense probably benign 0.00
R5875:Ptprb UTSW 10 116,184,071 (GRCm39) missense probably benign 0.00
R6051:Ptprb UTSW 10 116,176,995 (GRCm39) nonsense probably null
R6383:Ptprb UTSW 10 116,182,912 (GRCm39) nonsense probably null
R6511:Ptprb UTSW 10 116,182,725 (GRCm39) missense probably damaging 1.00
R6817:Ptprb UTSW 10 116,119,582 (GRCm39) small deletion probably benign
R6826:Ptprb UTSW 10 116,153,277 (GRCm39) missense probably benign 0.26
R6958:Ptprb UTSW 10 116,113,153 (GRCm39) missense probably benign 0.32
R7103:Ptprb UTSW 10 116,174,718 (GRCm39) missense probably damaging 1.00
R7129:Ptprb UTSW 10 116,119,582 (GRCm39) small deletion probably benign
R7181:Ptprb UTSW 10 116,204,671 (GRCm39) missense probably damaging 1.00
R7215:Ptprb UTSW 10 116,174,681 (GRCm39) missense possibly damaging 0.94
R7289:Ptprb UTSW 10 116,164,070 (GRCm39) missense probably damaging 0.99
R7315:Ptprb UTSW 10 116,198,284 (GRCm39) missense possibly damaging 0.83
R7319:Ptprb UTSW 10 116,177,309 (GRCm39) missense probably benign 0.01
R7381:Ptprb UTSW 10 116,177,038 (GRCm39) missense probably benign
R7412:Ptprb UTSW 10 116,177,043 (GRCm39) missense probably benign
R7483:Ptprb UTSW 10 116,119,334 (GRCm39) missense probably benign 0.01
R7495:Ptprb UTSW 10 116,177,353 (GRCm39) missense probably benign 0.12
R7508:Ptprb UTSW 10 116,189,896 (GRCm39) nonsense probably null
R7571:Ptprb UTSW 10 116,175,335 (GRCm39) missense probably damaging 1.00
R7586:Ptprb UTSW 10 116,179,779 (GRCm39) missense probably damaging 0.97
R7623:Ptprb UTSW 10 116,205,214 (GRCm39) missense possibly damaging 0.63
R7694:Ptprb UTSW 10 116,208,853 (GRCm39) missense probably damaging 1.00
R7744:Ptprb UTSW 10 116,113,389 (GRCm39) missense probably benign 0.10
R7752:Ptprb UTSW 10 116,205,333 (GRCm39) missense probably benign 0.37
R7826:Ptprb UTSW 10 116,119,582 (GRCm39) small deletion probably benign
R7833:Ptprb UTSW 10 116,151,156 (GRCm39) missense probably benign 0.01
R7834:Ptprb UTSW 10 116,175,329 (GRCm39) missense probably benign 0.00
R7846:Ptprb UTSW 10 116,119,453 (GRCm39) missense probably benign 0.17
R7896:Ptprb UTSW 10 116,205,362 (GRCm39) splice site probably null
R7901:Ptprb UTSW 10 116,205,333 (GRCm39) missense probably benign 0.37
R7912:Ptprb UTSW 10 116,158,392 (GRCm39) missense probably damaging 1.00
R7941:Ptprb UTSW 10 116,119,582 (GRCm39) small deletion probably benign
R8147:Ptprb UTSW 10 116,153,283 (GRCm39) missense probably damaging 1.00
R8202:Ptprb UTSW 10 116,189,750 (GRCm39) missense probably damaging 1.00
R8339:Ptprb UTSW 10 116,119,356 (GRCm39) missense probably benign 0.14
R8400:Ptprb UTSW 10 116,119,477 (GRCm39) small deletion probably benign
R8504:Ptprb UTSW 10 116,176,936 (GRCm39) missense probably benign 0.27
R8679:Ptprb UTSW 10 116,203,495 (GRCm39) missense probably damaging 1.00
R8786:Ptprb UTSW 10 116,155,306 (GRCm39) missense probably benign 0.40
R8914:Ptprb UTSW 10 116,158,567 (GRCm39) nonsense probably null
R8980:Ptprb UTSW 10 116,119,526 (GRCm39) missense probably benign 0.07
R8982:Ptprb UTSW 10 116,119,582 (GRCm39) small deletion probably benign
R9256:Ptprb UTSW 10 116,219,776 (GRCm39) missense probably damaging 1.00
R9288:Ptprb UTSW 10 116,155,353 (GRCm39) missense probably benign 0.03
R9369:Ptprb UTSW 10 116,151,057 (GRCm39) missense probably benign 0.00
R9448:Ptprb UTSW 10 116,149,819 (GRCm39) nonsense probably null
R9467:Ptprb UTSW 10 116,158,390 (GRCm39) missense probably benign 0.00
R9468:Ptprb UTSW 10 116,113,274 (GRCm39) missense probably benign 0.00
R9481:Ptprb UTSW 10 116,155,353 (GRCm39) missense probably benign 0.03
R9486:Ptprb UTSW 10 116,155,494 (GRCm39) nonsense probably null
R9513:Ptprb UTSW 10 116,138,142 (GRCm39) missense probably benign 0.00
R9529:Ptprb UTSW 10 116,174,519 (GRCm39) critical splice acceptor site probably null
R9535:Ptprb UTSW 10 116,158,431 (GRCm39) missense possibly damaging 0.92
R9614:Ptprb UTSW 10 116,203,441 (GRCm39) missense probably damaging 1.00
R9686:Ptprb UTSW 10 116,204,694 (GRCm39) missense probably damaging 1.00
RF041:Ptprb UTSW 10 116,119,582 (GRCm39) small deletion probably benign
X0020:Ptprb UTSW 10 116,138,085 (GRCm39) missense possibly damaging 0.62
Z1176:Ptprb UTSW 10 116,138,061 (GRCm39) frame shift probably null
Z1177:Ptprb UTSW 10 116,198,547 (GRCm39) critical splice acceptor site probably null
Posted On 2015-04-16