Incidental Mutation 'R7941:Ptprb'
ID 649063
Institutional Source Beutler Lab
Gene Symbol Ptprb
Ensembl Gene ENSMUSG00000020154
Gene Name protein tyrosine phosphatase receptor type B
Synonyms 3230402H02Rik, VE-PTP
MMRRC Submission 045987-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7941 (G1)
Quality Score 112.459
Status Not validated
Chromosome 10
Chromosomal Location 116111428-116225440 bp(+) (GRCm39)
Type of Mutation small deletion (7 aa in frame mutation)
DNA Base Change (assembly) GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT to GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT at 116119582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000218553]
AlphaFold B2RU80
Predicted Effect probably benign
Transcript: ENSMUST00000218553
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (43/44)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 T C 2: 31,579,691 (GRCm39) probably benign Het
AI467606 A G 7: 126,691,593 (GRCm39) E56G probably damaging Het
Ak9 C T 10: 41,285,133 (GRCm39) P1403S unknown Het
Akr1c14 A G 13: 4,109,713 (GRCm39) K28E probably benign Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Anks1b A T 10: 90,413,017 (GRCm39) N55I probably damaging Het
Cabyr T C 18: 12,877,825 (GRCm39) L54P probably damaging Het
Cachd1 A T 4: 100,845,370 (GRCm39) N954I probably damaging Het
Cenpf A G 1: 189,389,483 (GRCm39) S1450P probably damaging Het
Chst10 T A 1: 38,910,772 (GRCm39) I131L probably damaging Het
Cluh A T 11: 74,550,583 (GRCm39) M270L probably benign Het
Dagla T C 19: 10,248,867 (GRCm39) H29R probably damaging Het
Dusp5 A G 19: 53,525,964 (GRCm39) N202S probably benign Het
Elavl3 A G 9: 21,947,612 (GRCm39) I110T possibly damaging Het
Fam222b G T 11: 78,045,885 (GRCm39) G482V possibly damaging Het
Fbxl7 A G 15: 26,543,699 (GRCm39) L316P probably damaging Het
Gad1 T A 2: 70,424,929 (GRCm39) probably null Het
H2-K2 T C 17: 34,218,305 (GRCm39) T204A probably benign Het
Hmcn1 A G 1: 150,525,835 (GRCm39) V3296A possibly damaging Het
Hyal1 T C 9: 107,455,299 (GRCm39) F203S probably damaging Het
Il16 T A 7: 83,332,037 (GRCm39) D181V probably damaging Het
Ip6k1 T C 9: 107,901,631 (GRCm39) F69L probably damaging Het
Klf4 G A 4: 55,531,755 (GRCm39) probably benign Het
Lsr T G 7: 30,672,520 (GRCm39) I27L probably benign Het
Mettl4 A T 17: 95,040,622 (GRCm39) probably null Het
Mpdz A G 4: 81,200,987 (GRCm39) V1902A probably benign Het
Nfkbiz C T 16: 55,642,307 (GRCm39) G37D probably damaging Het
Or5w11 T C 2: 87,459,248 (GRCm39) V31A probably benign Het
Otogl A T 10: 107,642,663 (GRCm39) probably null Het
Pcdh1 T C 18: 38,332,133 (GRCm39) D429G probably damaging Het
Pramel34 A T 5: 93,785,887 (GRCm39) V131D probably benign Het
Prelid2 A T 18: 42,065,816 (GRCm39) L73* probably null Het
Psg20 T A 7: 18,415,102 (GRCm39) probably null Het
Rab24 C T 13: 55,468,120 (GRCm39) probably null Het
Rag1 T G 2: 101,472,691 (GRCm39) K817T probably benign Het
Rgl2 T C 17: 34,150,713 (GRCm39) V57A probably benign Het
Ric1 T C 19: 29,510,659 (GRCm39) M80T probably damaging Het
Sh3rf3 T C 10: 58,842,883 (GRCm39) I283T probably damaging Het
Skint2 C A 4: 112,483,187 (GRCm39) N197K probably damaging Het
Snapc4 A G 2: 26,266,730 (GRCm39) I126T probably damaging Het
Srcap GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT 7: 127,157,462 (GRCm39) probably benign Het
Svip T C 7: 51,653,161 (GRCm39) K51R probably benign Het
Syndig1 T A 2: 149,741,708 (GRCm39) V98E probably benign Het
Tshz1 A T 18: 84,033,517 (GRCm39) M297K possibly damaging Het
Ttn A G 2: 76,749,694 (GRCm39) V3785A probably benign Het
Usf3 T C 16: 44,035,924 (GRCm39) S135P probably damaging Het
Vmn2r10 A T 5: 109,144,306 (GRCm39) M548K probably damaging Het
Vmn2r92 T C 17: 18,405,099 (GRCm39) S748P possibly damaging Het
Zbtb39 A G 10: 127,579,409 (GRCm39) Y661C probably damaging Het
Zfp804b A G 5: 6,820,042 (GRCm39) I1007T probably benign Het
Zscan4-ps2 A G 7: 11,251,599 (GRCm39) I212V probably benign 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
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
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'- TGCCACTACTGCTAACACCG -3'
(R):5'- AAGCCTTCTCACGGGAAGAC -3'

Sequencing Primer
(F):5'- TACTGCTAACACCGTCCCATATAG -3'
(R):5'- CTCTGTGGTGATGCTGGAGAAAG -3'
Posted On 2020-09-15