Incidental Mutation 'R5382:Ptprb'
ID 424795
Institutional Source Beutler Lab
Gene Symbol Ptprb
Ensembl Gene ENSMUSG00000020154
Gene Name protein tyrosine phosphatase receptor type B
Synonyms 3230402H02Rik, VE-PTP
MMRRC Submission 042957-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5382 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 116111428-116225440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116189776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 1812 (Y1812N)
Ref Sequence ENSEMBL: ENSMUSP00000151821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092167] [ENSMUST00000218553]
AlphaFold B2RU80
Predicted Effect probably damaging
Transcript: ENSMUST00000092167
AA Change: Y1525N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089805
Gene: ENSMUSG00000020154
AA Change: Y1525N

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 probably damaging
Transcript: ENSMUST00000218553
AA Change: Y1812N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.8677 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (59/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,314,844 (GRCm39) P250S possibly damaging Het
Actn2 T A 13: 12,323,837 (GRCm39) M133L probably benign Het
Arhgap32 A T 9: 32,063,306 (GRCm39) K105M probably damaging Het
BC034090 A G 1: 155,101,349 (GRCm39) V305A probably benign Het
Brd1 G A 15: 88,613,767 (GRCm39) T376M probably damaging Het
Cbl C T 9: 44,070,318 (GRCm39) A505T probably benign Het
Cga G T 4: 34,904,048 (GRCm39) M14I probably benign Het
Ciao3 A G 17: 25,995,894 (GRCm39) probably benign Het
Cluh T C 11: 74,555,935 (GRCm39) probably benign Het
Col14a1 A T 15: 55,225,832 (GRCm39) D165V unknown Het
Cp T C 3: 20,033,089 (GRCm39) W639R probably damaging Het
Cyp7b1 T A 3: 18,151,385 (GRCm39) D276V possibly damaging Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Ecpas A T 4: 58,850,934 (GRCm39) M413K probably benign Het
Erc1 T A 6: 119,738,233 (GRCm39) M509L probably benign Het
Evi5l A G 8: 4,228,653 (GRCm39) probably benign Het
Exoc6 T C 19: 37,587,127 (GRCm39) probably null Het
Gm38706 C T 6: 130,460,744 (GRCm39) noncoding transcript Het
Gpr183 T C 14: 122,192,333 (GRCm39) T63A possibly damaging Het
Gpr63 T A 4: 25,007,952 (GRCm39) D225E probably benign Het
Grb14 T A 2: 64,745,078 (GRCm39) K93N probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kif28 C T 1: 179,527,847 (GRCm39) G768D probably damaging Het
Krt79 A T 15: 101,839,875 (GRCm39) D373E probably benign Het
Mro G A 18: 74,009,893 (GRCm39) S187N probably benign Het
Ms4a14 G T 19: 11,280,421 (GRCm39) D712E possibly damaging Het
Ndufaf1 T C 2: 119,490,893 (GRCm39) T56A possibly damaging Het
Nell2 A T 15: 95,127,091 (GRCm39) D761E probably damaging Het
Numb A G 12: 83,854,979 (GRCm39) F116L probably damaging Het
Or3a1 T A 11: 74,225,806 (GRCm39) M84L probably benign Het
Or4c114 A G 2: 88,905,079 (GRCm39) Y119H probably damaging Het
Or5an11 A T 19: 12,245,773 (GRCm39) M60L possibly damaging Het
Or6c66 T A 10: 129,461,876 (GRCm39) D18V probably damaging Het
Or8k27 A G 2: 86,275,660 (GRCm39) L222P probably damaging Het
Or9g20 T C 2: 85,630,492 (GRCm39) N41D probably damaging Het
Otog A C 7: 45,898,428 (GRCm39) N182T probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Padi6 A T 4: 140,458,521 (GRCm39) V457E probably damaging Het
Pex16 G A 2: 92,207,875 (GRCm39) R109H possibly damaging Het
Phactr1 T C 13: 43,288,695 (GRCm39) probably benign Het
Phf20 G A 2: 156,109,417 (GRCm39) E255K probably damaging Het
Pim1 A G 17: 29,710,457 (GRCm39) probably benign Het
Prr23a2 T A 9: 98,739,229 (GRCm39) Y196N probably damaging Het
Prune2 A T 19: 16,981,023 (GRCm39) N60I probably damaging Het
Rab11fip4 A G 11: 79,581,541 (GRCm39) Y512C possibly damaging Het
Resf1 G T 6: 149,227,958 (GRCm39) E335* probably null Het
Rft1 T C 14: 30,388,739 (GRCm39) V221A probably benign Het
Tacr2 T C 10: 62,097,276 (GRCm39) M252T probably damaging Het
Tgfbrap1 A G 1: 43,115,025 (GRCm39) I25T probably benign Het
Th A G 7: 142,449,177 (GRCm39) F191S probably damaging Het
Trim3 C A 7: 105,267,554 (GRCm39) R275L probably benign Het
Trpm3 A G 19: 22,862,705 (GRCm39) probably null Het
Wars1 A T 12: 108,848,706 (GRCm39) D80E probably benign Het
Wdr90 T A 17: 26,064,572 (GRCm39) Y1806F probably damaging Het
Zfp644 A T 5: 106,782,735 (GRCm39) I1182N 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
IGL02178:Ptprb APN 10 116,158,437 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- CACACGTACACATGTATACGCG -3'
(R):5'- GTAGCCCAGGAGGTTGAATAC -3'

Sequencing Primer
(F):5'- GTACACATGTATACGCGTACAC -3'
(R):5'- GTCCGTCTCCCTACAAACG -3'
Posted On 2016-08-04