Incidental Mutation 'R1958:Ptprb'
ID 218050
Institutional Source Beutler Lab
Gene Symbol Ptprb
Ensembl Gene ENSMUSG00000020154
Gene Name protein tyrosine phosphatase receptor type B
Synonyms 3230402H02Rik, VE-PTP
MMRRC Submission 039972-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1958 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 116111428-116225440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 116177441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 1047 (T1047M)
Ref Sequence ENSEMBL: ENSMUSP00000089805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092167] [ENSMUST00000218553]
AlphaFold B2RU80
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083152
Predicted Effect probably benign
Transcript: ENSMUST00000092167
AA Change: T1047M

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000089805
Gene: ENSMUSG00000020154
AA Change: T1047M

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 benign
Transcript: ENSMUST00000218553
AA Change: T1334M

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency 97% (99/102)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A T 4: 62,457,146 (GRCm39) N155I probably benign Het
Abca14 A G 7: 119,924,382 (GRCm39) Y1678C probably damaging Het
Adamts19 A T 18: 59,103,078 (GRCm39) R706S probably benign Het
Adipor1 T C 1: 134,350,771 (GRCm39) S7P probably benign Het
Adss2 A G 1: 177,597,544 (GRCm39) I372T probably damaging Het
Arhgap15 T A 2: 44,133,136 (GRCm39) D347E possibly damaging Het
Arnt C T 3: 95,355,704 (GRCm39) S16L possibly damaging Het
Asb8 T C 15: 98,034,097 (GRCm39) T153A possibly damaging Het
Aspscr1 G T 11: 120,580,034 (GRCm39) G191V probably null Het
Atm T C 9: 53,382,718 (GRCm39) H1957R probably damaging Het
Atp13a5 A G 16: 29,133,419 (GRCm39) Y411H probably damaging Het
Cadm1 T G 9: 47,761,633 (GRCm39) I411S probably damaging Het
Cdh23 T A 10: 60,246,652 (GRCm39) M927L probably benign Het
Cdk15 A T 1: 59,383,475 (GRCm39) R423W probably damaging Het
Cep250 T A 2: 155,818,301 (GRCm39) probably null Het
Cfap43 T A 19: 47,885,649 (GRCm39) Y322F probably benign Het
Cfap54 T C 10: 92,833,204 (GRCm39) S1141G probably benign Het
Clnk T C 5: 38,863,969 (GRCm39) Y428C possibly damaging Het
Cnksr1 A G 4: 133,955,727 (GRCm39) S668P probably benign Het
Cpxm2 A T 7: 131,663,876 (GRCm39) I349N probably damaging Het
Csmd3 A G 15: 47,868,035 (GRCm39) probably null Het
Cstdc3 T C 16: 36,132,927 (GRCm39) L68P possibly damaging Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dph2 A T 4: 117,749,041 (GRCm39) F5I probably damaging Het
Dst T A 1: 34,202,802 (GRCm39) F325L probably damaging Het
Edem3 T C 1: 151,680,076 (GRCm39) L474S probably damaging Het
Emilin1 T A 5: 31,075,160 (GRCm39) L467Q probably benign Het
Fam170a G A 18: 50,415,181 (GRCm39) E276K probably benign Het
Farp1 A T 14: 121,456,787 (GRCm39) probably null Het
Fbrs A T 7: 127,085,163 (GRCm39) T584S possibly damaging Het
Fbxo22 T A 9: 55,116,626 (GRCm39) probably null Het
Fhod3 T G 18: 25,223,522 (GRCm39) L956R probably damaging Het
Fmo4 G A 1: 162,631,259 (GRCm39) T236I probably benign Het
Foxp4 C T 17: 48,186,796 (GRCm39) R378Q unknown Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm11444 A T 11: 85,738,999 (GRCm39) probably benign Het
Gm14443 T C 2: 175,011,497 (GRCm39) I316M probably benign Het
Has3 A T 8: 107,605,435 (GRCm39) Y547F probably benign Het
Hdhd2 A G 18: 77,052,841 (GRCm39) T164A probably benign Het
Hoxb9 T A 11: 96,162,880 (GRCm39) D171E possibly damaging Het
Hpx A G 7: 105,245,603 (GRCm39) Y118H probably damaging Het
Iqsec1 T C 6: 90,647,441 (GRCm39) K858E probably damaging Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Lama2 C A 10: 26,857,594 (GRCm39) R3085L probably damaging Het
Lyst C A 13: 13,791,203 (GRCm39) A22E probably damaging Het
Man2a1 T C 17: 65,057,830 (GRCm39) F1079L probably benign Het
Marco C T 1: 120,412,593 (GRCm39) G303R probably damaging Het
Marveld2 A C 13: 100,733,858 (GRCm39) I536R probably damaging Het
Mcm5 A G 8: 75,848,257 (GRCm39) D502G probably benign Het
Mdga1 A T 17: 30,059,862 (GRCm39) L653Q probably damaging Het
Mical2 A G 7: 111,980,311 (GRCm39) D161G probably benign Het
Mroh2a C T 1: 88,165,213 (GRCm39) R445* probably null Het
Mrpl46 A T 7: 78,431,146 (GRCm39) probably null Het
Nckipsd C A 9: 108,691,863 (GRCm39) probably null Het
Nek11 T C 9: 105,170,916 (GRCm39) D373G probably benign Het
Nle1 G A 11: 82,795,068 (GRCm39) S321F probably benign Het
Noxa1 A G 2: 24,980,620 (GRCm39) S130P probably damaging Het
Or10a5 A G 7: 106,635,478 (GRCm39) T39A possibly damaging Het
Or51v14 T A 7: 103,260,618 (GRCm39) *314L probably null Het
Or5l13 A T 2: 87,779,809 (GRCm39) L256H probably damaging Het
Or8b39 T A 9: 37,996,419 (GRCm39) C96S probably damaging Het
Parp3 T G 9: 106,352,021 (GRCm39) probably null Het
Pask A T 1: 93,249,180 (GRCm39) I740N probably benign Het
Pelp1 A G 11: 70,289,347 (GRCm39) F221S probably damaging Het
Pkd1l1 T G 11: 8,824,161 (GRCm39) K1135Q probably benign Het
Plcl2 A T 17: 50,915,109 (GRCm39) Q706L probably damaging Het
Psg26 T C 7: 18,212,264 (GRCm39) T364A probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rab37 C T 11: 115,051,177 (GRCm39) A155V probably damaging Het
Rbbp6 A C 7: 122,601,168 (GRCm39) probably benign Het
Rbmxl2 A G 7: 106,809,405 (GRCm39) D230G probably benign Het
Rsf1 CGGCGGCGGCGGCGGCGGCGGCGGCGGC CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,115 (GRCm39) probably benign Het
Sass6 G T 3: 116,403,945 (GRCm39) K194N possibly damaging Het
Sgpp1 T G 12: 75,782,222 (GRCm39) D39A probably benign Het
Shank3 T C 15: 89,387,351 (GRCm39) V198A probably damaging Het
Sin3a T A 9: 57,012,893 (GRCm39) S591T probably damaging Het
Slc12a6 C T 2: 112,185,503 (GRCm39) T924I possibly damaging Het
Sln T A 9: 53,760,785 (GRCm39) I10N probably benign Het
St3gal3 A T 4: 117,797,268 (GRCm39) M309K probably damaging Het
Syne2 T A 12: 76,016,319 (GRCm39) D3301E probably benign Het
Tgtp2 A G 11: 48,949,919 (GRCm39) S218P probably damaging Het
Tha1 C T 11: 117,760,179 (GRCm39) probably benign Het
Tmem102 A G 11: 69,695,225 (GRCm39) V249A probably benign Het
Top3b G A 16: 16,702,166 (GRCm39) E268K possibly damaging Het
Trip4 T C 9: 65,746,307 (GRCm39) S530G possibly damaging Het
Tut1 T A 19: 8,936,677 (GRCm39) V167E probably damaging Het
Tut4 A T 4: 108,412,903 (GRCm39) S1535C probably damaging Het
Ube2u A T 4: 100,338,833 (GRCm39) M33L probably benign Het
Unc79 T C 12: 102,957,621 (GRCm39) I12T probably damaging Het
Unc79 A T 12: 103,041,178 (GRCm39) D737V probably benign Het
Vmn1r26 A G 6: 57,985,286 (GRCm39) V301A probably benign Het
Vmn1r86 A G 7: 12,836,621 (GRCm39) V35A possibly damaging Het
Vmn2r98 A C 17: 19,286,680 (GRCm39) N393H possibly damaging Het
Vps13b T G 15: 35,878,835 (GRCm39) S2945A probably damaging Het
Whrn C T 4: 63,353,666 (GRCm39) R367H possibly damaging Het
Zfp235 A T 7: 23,839,771 (GRCm39) L133F probably damaging Het
Zfp74 T C 7: 29,635,136 (GRCm39) T191A probably benign Het
Zfp943 A T 17: 22,211,979 (GRCm39) K355I probably damaging Het
Zranb1 T G 7: 132,584,458 (GRCm39) S601R probably damaging Het
Zscan29 A T 2: 121,000,289 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- TGTTTCTTTGAAGTCCCAGCG -3'
(R):5'- CCTTGTGTCAGTGTGAAGTCAG -3'

Sequencing Primer
(F):5'- TGAAGTCCCAGCGTCTGTC -3'
(R):5'- GACTACTGTGTCAAGAGCTATGC -3'
Posted On 2014-08-01