Incidental Mutation 'R1837:Ptprb'
ID 205416
Institutional Source Beutler Lab
Gene Symbol Ptprb
Ensembl Gene ENSMUSG00000020154
Gene Name protein tyrosine phosphatase receptor type B
Synonyms 3230402H02Rik, VE-PTP
MMRRC Submission 039864-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1837 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 116111428-116225440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116177531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1364 (E1364G)
Ref Sequence ENSEMBL: ENSMUSP00000151821 (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: E1077G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000089805
Gene: ENSMUSG00000020154
AA Change: E1077G

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: E1364G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.1668 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.6%
Validation Efficiency 99% (86/87)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl10 G T 2: 154,394,962 (GRCm39) G305W probably damaging Het
Actr3b A T 5: 26,030,157 (GRCm39) T74S probably benign Het
Add2 A G 6: 86,095,540 (GRCm39) E652G probably damaging Het
Alg9 T A 9: 50,717,615 (GRCm39) V83D probably damaging Het
Atp13a2 T A 4: 140,721,643 (GRCm39) Y244* probably null Het
BB014433 C G 8: 15,092,629 (GRCm39) V75L unknown Het
Bcr A G 10: 75,003,932 (GRCm39) probably benign Het
Begain G A 12: 109,001,249 (GRCm39) probably benign Het
Bzw1 A G 1: 58,439,277 (GRCm39) K67E probably damaging Het
Ccdc141 T C 2: 76,842,009 (GRCm39) E1474G probably benign Het
Cdc73 T A 1: 143,543,395 (GRCm39) T314S possibly damaging Het
Cfap206 T C 4: 34,728,813 (GRCm39) T31A probably damaging Het
Cfap58 G A 19: 48,017,578 (GRCm39) E813K probably damaging Het
Clstn2 C A 9: 97,465,593 (GRCm39) A133S probably benign Het
Col14a1 A T 15: 55,245,891 (GRCm39) D465V unknown Het
Col2a1 C T 15: 97,894,522 (GRCm39) probably benign Het
Dab2 A G 15: 6,365,957 (GRCm39) probably benign Het
Eme1 T C 11: 94,536,787 (GRCm39) D464G probably benign Het
Eml6 T C 11: 29,699,802 (GRCm39) probably null Het
Ern1 C A 11: 106,349,783 (GRCm39) L44F probably damaging Het
Fam111a T A 19: 12,564,816 (GRCm39) S188R probably benign Het
Fam151b A T 13: 92,610,639 (GRCm39) probably benign Het
Fmo6 T C 1: 162,750,379 (GRCm39) N226D probably benign Het
Ggt1 A G 10: 75,415,128 (GRCm39) D214G probably benign Het
Gm14226 A G 2: 154,866,930 (GRCm39) I296V probably benign Het
Gm9915 A T 1: 42,269,847 (GRCm39) noncoding transcript Het
Heatr5b T C 17: 79,128,180 (GRCm39) D485G possibly damaging Het
Helz2 A T 2: 180,871,082 (GRCm39) I2785N probably damaging Het
Htt C T 5: 34,976,367 (GRCm39) T723M probably benign Het
Hydin C A 8: 111,296,257 (GRCm39) H3595Q probably benign Het
Il6ra T C 3: 89,797,579 (GRCm39) D96G probably benign Het
Kif5a G A 10: 127,072,684 (GRCm39) Q702* probably null Het
Klhdc7a G T 4: 139,694,381 (GRCm39) P189T probably benign Het
Krt7 A G 15: 101,317,463 (GRCm39) D252G probably benign Het
Lad1 C A 1: 135,757,444 (GRCm39) D394E probably benign Het
Lhx8 A T 3: 154,033,692 (GRCm39) C38S possibly damaging Het
Lta4h C T 10: 93,305,037 (GRCm39) T280M probably damaging Het
Magi2 A T 5: 20,670,825 (GRCm39) T163S probably damaging Het
Med1 G T 11: 98,060,238 (GRCm39) D230E probably damaging Het
Mmp1b A T 9: 7,386,409 (GRCm39) F171I probably damaging Het
Mprip T C 11: 59,657,571 (GRCm39) V801A probably damaging Het
Mtrf1 A G 14: 79,639,273 (GRCm39) E135G possibly damaging Het
Muc5ac T A 7: 141,360,823 (GRCm39) M1378K probably benign Het
Myo3a A T 2: 22,467,604 (GRCm39) Q286L possibly damaging Het
Ndor1 C T 2: 25,138,408 (GRCm39) G391R probably damaging Het
Nefl C T 14: 68,324,075 (GRCm39) R438C probably damaging Het
Nlrp3 G A 11: 59,439,742 (GRCm39) V440I probably benign Het
Notch3 A T 17: 32,343,296 (GRCm39) L1959Q probably damaging Het
Noto A G 6: 85,401,159 (GRCm39) T63A probably benign Het
Oc90 G A 15: 65,761,529 (GRCm39) T163M probably damaging Het
Or1l4 T A 2: 37,092,114 (GRCm39) M287K probably benign Het
Or4c114 A T 2: 88,905,176 (GRCm39) Y86* probably null Het
Or5an10 A G 19: 12,275,740 (GRCm39) V252A probably damaging Het
Pdpr C A 8: 111,861,366 (GRCm39) P787T probably damaging Het
Phlda1 A G 10: 111,343,092 (GRCm39) Q276R probably benign Het
Ptpn21 T G 12: 98,699,885 (GRCm39) K10Q probably damaging Het
Rabep1 T A 11: 70,795,484 (GRCm39) W237R probably damaging Het
Rai1 A T 11: 60,080,224 (GRCm39) K1429N probably damaging Het
Rapgef1 A G 2: 29,627,438 (GRCm39) I1027M probably damaging Het
Rit1 C G 3: 88,636,477 (GRCm39) T127S probably damaging Het
Rpap1 A C 2: 119,600,366 (GRCm39) probably null Het
Senp7 T A 16: 55,978,879 (GRCm39) C471S probably benign Het
Slc16a14 A G 1: 84,890,120 (GRCm39) V395A probably benign Het
Slc45a1 C T 4: 150,722,916 (GRCm39) G323S probably benign Het
Syne2 A T 12: 76,014,434 (GRCm39) E3208D probably damaging Het
Tap1 C T 17: 34,407,083 (GRCm39) A77V possibly damaging Het
Ticam1 T C 17: 56,577,799 (GRCm39) E432G possibly damaging Het
Tmem192 C A 8: 65,416,992 (GRCm39) probably benign Het
Trub1 T C 19: 57,441,461 (GRCm39) V28A probably benign Het
Ttc21b A T 2: 66,028,106 (GRCm39) L1121H probably benign Het
Ttc38 A G 15: 85,735,764 (GRCm39) D290G probably damaging Het
Ulk1 C T 5: 110,937,247 (GRCm39) G683D probably damaging Het
Vmn1r122 A T 7: 20,867,291 (GRCm39) F255I probably benign Het
Vmn2r68 T A 7: 84,882,886 (GRCm39) I289F probably damaging Het
Vps39 A T 2: 120,155,878 (GRCm39) L514H probably damaging Het
Wdr48 T G 9: 119,734,482 (GRCm39) S134A probably damaging Het
Yap1 A T 9: 7,962,350 (GRCm39) Y139N probably damaging Het
Ylpm1 T C 12: 85,076,107 (GRCm39) V486A possibly damaging Het
Zbtb38 T C 9: 96,569,048 (GRCm39) T679A probably benign Het
Zfp292 A G 4: 34,810,264 (GRCm39) S927P probably damaging Het
Zfp324 C T 7: 12,704,156 (GRCm39) T115I probably benign Het
Zfp523 T A 17: 28,413,967 (GRCm39) I34N probably damaging Het
Zfp945 A T 17: 23,070,247 (GRCm39) C551S probably damaging Het
Zfp958 A G 8: 4,678,590 (GRCm39) H205R probably damaging Het
Zfp974 G A 7: 27,609,781 (GRCm39) P648L 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
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
Predicted Primers PCR Primer
(F):5'- CTTAACAGTAAGTTGGCAGAAAGC -3'
(R):5'- TTGGAGTACTGTGGGCTAAAGC -3'

Sequencing Primer
(F):5'- CCCTTGGTGTGGCAGAAAGATAC -3'
(R):5'- GCTGGCTGACCCTTGTGTC -3'
Posted On 2014-06-23