Incidental Mutation 'R9571:Ptprt'
ID 721972
Institutional Source Beutler Lab
Gene Symbol Ptprt
Ensembl Gene ENSMUSG00000053141
Gene Name protein tyrosine phosphatase, receptor type, T
Synonyms RPTPrho
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R9571 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 161521990-162661147 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 161553812 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1167 (V1167A)
Ref Sequence ENSEMBL: ENSMUSP00000105067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109441] [ENSMUST00000109442] [ENSMUST00000109443] [ENSMUST00000109445]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000109441
AA Change: V1167A

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105067
Gene: ENSMUSG00000053141
AA Change: V1167A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
MAM 31 195 2.21e-71 SMART
IG 202 290 3.94e-2 SMART
FN3 292 375 3.35e-3 SMART
FN3 388 477 4.06e-2 SMART
FN3 489 579 1.2e-4 SMART
transmembrane domain 753 772 N/A INTRINSIC
PTPc 882 1159 3.64e-129 SMART
PTPc 1188 1453 4.24e-98 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109442
AA Change: V1166A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000105068
Gene: ENSMUSG00000053141
AA Change: V1166A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
MAM 31 195 2.21e-71 SMART
IG 202 290 3.94e-2 SMART
FN3 292 375 3.35e-3 SMART
FN3 388 477 4.06e-2 SMART
FN3 489 579 1.2e-4 SMART
low complexity region 738 749 N/A INTRINSIC
transmembrane domain 772 791 N/A INTRINSIC
PTPc 901 1158 5.56e-134 SMART
PTPc 1187 1452 4.24e-98 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109443
AA Change: V1157A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105069
Gene: ENSMUSG00000053141
AA Change: V1157A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
MAM 31 195 2.21e-71 SMART
IG 202 290 3.94e-2 SMART
FN3 292 375 3.35e-3 SMART
FN3 388 477 4.06e-2 SMART
FN3 489 579 1.2e-4 SMART
low complexity region 778 792 N/A INTRINSIC
PTPc 892 1149 5.56e-134 SMART
PTPc 1178 1443 4.24e-98 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109445
AA Change: V1147A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105071
Gene: ENSMUSG00000053141
AA Change: V1147A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
MAM 31 195 2.21e-71 SMART
IG 202 290 3.94e-2 SMART
FN3 292 375 3.35e-3 SMART
FN3 388 477 4.06e-2 SMART
FN3 489 579 1.2e-4 SMART
transmembrane domain 753 772 N/A INTRINSIC
PTPc 882 1139 5.56e-134 SMART
PTPc 1168 1433 4.24e-98 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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 possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are highly susceptible to carcinogen azoxymethane-induced colon tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A G 2: 130,405,562 (GRCm38) D6G probably benign Het
Abl2 T G 1: 156,641,514 (GRCm38) S783A probably damaging Het
Adamtsl1 A T 4: 86,199,306 (GRCm38) T169S probably benign Het
Adcy9 A G 16: 4,323,789 (GRCm38) V621A probably benign Het
Ahnak2 T C 12: 112,776,076 (GRCm38) S521G possibly damaging Het
Ap2m1 G A 16: 20,541,287 (GRCm38) G213R probably damaging Het
Apol11b C T 15: 77,640,571 (GRCm38) E5K possibly damaging Het
Arl4d T C 11: 101,667,206 (GRCm38) M186T possibly damaging Het
Cep192 A G 18: 67,819,038 (GRCm38) D428G probably damaging Het
Ckap5 A C 2: 91,557,608 (GRCm38) D266A probably damaging Het
Crls1 A T 2: 132,849,873 (GRCm38) N106I probably damaging Het
Csmd3 T A 15: 48,792,002 (GRCm38) probably benign Het
Csnk1a1 A G 18: 61,571,898 (GRCm38) R161G possibly damaging Het
Cyp4f39 T A 17: 32,483,222 (GRCm38) I231N probably damaging Het
Ddx31 T A 2: 28,860,022 (GRCm38) V352D probably damaging Het
Dna2 A G 10: 62,964,961 (GRCm38) D758G probably damaging Het
Duxf4 G A 10: 58,235,556 (GRCm38) L279F possibly damaging Het
Gatad2a C A 8: 69,917,731 (GRCm38) A172S probably benign Het
Ghsr G T 3: 27,372,515 (GRCm38) R240L probably benign Het
Gli3 T A 13: 15,726,273 (GRCm38) M1415K probably benign Het
Glo1 G A 17: 30,597,861 (GRCm38) T107I possibly damaging Het
Gm10800 AAAGAAAACTGAA ACAAGAAAACTGAA 2: 98,667,033 (GRCm38) probably null Het
Gm17334 C T 11: 53,772,934 (GRCm38) V34M unknown Het
Habp4 T A 13: 64,174,801 (GRCm38) M228K probably benign Het
Hacl1 A G 14: 31,622,881 (GRCm38) V257A possibly damaging Het
Ift122 T G 6: 115,880,667 (GRCm38) S125A possibly damaging Het
Iqce C T 5: 140,666,107 (GRCm38) D704N possibly damaging Het
Jcad T A 18: 4,673,252 (GRCm38) L338* probably null Het
Kcnj13 T C 1: 87,389,127 (GRCm38) D88G probably damaging Het
Kif1b T C 4: 149,220,641 (GRCm38) D942G probably damaging Het
Marchf8 T A 6: 116,406,276 (GRCm38) S271T probably benign Het
Meis1 A G 11: 19,011,378 (GRCm38) L165S probably damaging Het
Morc2b T A 17: 33,136,204 (GRCm38) T865S probably benign Het
Morc3 T A 16: 93,844,219 (GRCm38) N46K possibly damaging Het
Mpzl1 C T 1: 165,601,805 (GRCm38) C219Y probably benign Het
Mup5 A G 4: 61,832,550 (GRCm38) probably null Het
Ninl A T 2: 150,949,883 (GRCm38) W907R probably benign Het
Nol6 A T 4: 41,120,156 (GRCm38) S491T probably benign Het
Or4f53 A T 2: 111,257,738 (GRCm38) I208F probably benign Het
Or51g1 A G 7: 102,985,014 (GRCm38) V50A probably benign Het
Or5b121 T A 19: 13,530,333 (GRCm38) I264N probably damaging Het
Or6c205 C A 10: 129,251,313 (GRCm38) P260T possibly damaging Het
Osbpl6 T A 2: 76,594,847 (GRCm38) M919K probably benign Het
Otogl A T 10: 107,762,503 (GRCm38) V2262E possibly damaging Het
Pcbp2 A G 15: 102,474,678 (GRCm38) D77G possibly damaging Het
Pcsk7 G A 9: 45,909,609 (GRCm38) R113Q possibly damaging Het
Pds5b T C 5: 150,722,506 (GRCm38) I143T probably damaging Het
Polr2m T C 9: 71,479,428 (GRCm38) E357G possibly damaging Het
Prox2 G A 12: 85,094,992 (GRCm38) Q146* probably null Het
Rbm11 G A 16: 75,600,655 (GRCm38) E158K possibly damaging Het
Sall2 A T 14: 52,314,373 (GRCm38) V455E probably damaging Het
Sar1b T A 11: 51,789,237 (GRCm38) L130Q probably damaging Het
Slc35f6 A G 5: 30,657,836 (GRCm38) N369S possibly damaging Het
Slc39a12 A T 2: 14,407,569 (GRCm38) M351L probably benign Het
Taf15 T A 11: 83,504,661 (GRCm38) Y397* probably null Het
Tmprss11e A T 5: 86,727,290 (GRCm38) V39D probably damaging Het
Trim71 T C 9: 114,513,291 (GRCm38) D641G probably damaging Het
Trpc3 T A 3: 36,640,760 (GRCm38) T682S probably damaging Het
Tsen54 T C 11: 115,817,107 (GRCm38) probably null Het
Usp6nl A G 2: 6,441,149 (GRCm38) N646D possibly damaging Het
Vip T C 10: 5,640,661 (GRCm38) F12L probably benign Het
Vmn1r39 A T 6: 66,804,588 (GRCm38) F249I probably benign Het
Vmn2r106 A T 17: 20,285,379 (GRCm38) S18T probably benign Het
Vmn2r97 G T 17: 18,929,657 (GRCm38) V436L probably benign Het
Washc2 T C 6: 116,260,670 (GRCm38) probably null Het
Ykt6 T C 11: 5,964,613 (GRCm38) V171A possibly damaging Het
Zfp658 A G 7: 43,572,715 (GRCm38) D138G possibly damaging Het
Other mutations in Ptprt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Ptprt APN 2 161,810,624 (GRCm38) missense probably benign 0.00
IGL00565:Ptprt APN 2 161,560,191 (GRCm38) missense probably damaging 1.00
IGL00925:Ptprt APN 2 161,656,163 (GRCm38) missense possibly damaging 0.52
IGL01344:Ptprt APN 2 161,551,817 (GRCm38) missense probably damaging 1.00
IGL01432:Ptprt APN 2 162,268,079 (GRCm38) splice site probably benign
IGL02008:Ptprt APN 2 161,927,673 (GRCm38) missense probably benign 0.02
IGL02040:Ptprt APN 2 162,238,072 (GRCm38) missense probably damaging 1.00
IGL02172:Ptprt APN 2 161,555,502 (GRCm38) missense probably damaging 1.00
IGL02231:Ptprt APN 2 162,278,046 (GRCm38) critical splice donor site probably null
IGL02231:Ptprt APN 2 162,238,060 (GRCm38) missense probably damaging 1.00
IGL02232:Ptprt APN 2 161,530,517 (GRCm38) missense probably damaging 0.96
IGL02277:Ptprt APN 2 161,547,381 (GRCm38) missense probably damaging 1.00
IGL02447:Ptprt APN 2 162,278,107 (GRCm38) missense probably benign 0.01
IGL02601:Ptprt APN 2 161,766,307 (GRCm38) missense probably benign 0.10
IGL02623:Ptprt APN 2 161,607,452 (GRCm38) splice site probably benign
IGL03379:Ptprt APN 2 161,555,459 (GRCm38) nonsense probably null
Poverina UTSW 2 161,901,497 (GRCm38) missense possibly damaging 0.70
IGL03055:Ptprt UTSW 2 161,533,613 (GRCm38) missense probably damaging 0.96
R0064:Ptprt UTSW 2 161,927,791 (GRCm38) splice site probably benign
R0129:Ptprt UTSW 2 162,278,070 (GRCm38) missense probably benign 0.35
R0131:Ptprt UTSW 2 162,278,110 (GRCm38) missense probably benign 0.00
R0131:Ptprt UTSW 2 162,278,110 (GRCm38) missense probably benign 0.00
R0132:Ptprt UTSW 2 162,278,110 (GRCm38) missense probably benign 0.00
R0316:Ptprt UTSW 2 161,607,319 (GRCm38) missense probably damaging 1.00
R0454:Ptprt UTSW 2 161,553,822 (GRCm38) missense probably damaging 0.96
R0488:Ptprt UTSW 2 161,553,825 (GRCm38) missense probably damaging 0.99
R0573:Ptprt UTSW 2 161,551,748 (GRCm38) missense probably damaging 1.00
R0614:Ptprt UTSW 2 161,812,120 (GRCm38) missense possibly damaging 0.59
R0834:Ptprt UTSW 2 161,812,139 (GRCm38) splice site probably null
R1023:Ptprt UTSW 2 161,558,943 (GRCm38) missense probably damaging 1.00
R1184:Ptprt UTSW 2 161,927,772 (GRCm38) missense possibly damaging 0.82
R1253:Ptprt UTSW 2 162,278,226 (GRCm38) missense probably damaging 1.00
R1476:Ptprt UTSW 2 161,927,484 (GRCm38) missense probably damaging 1.00
R1515:Ptprt UTSW 2 162,238,034 (GRCm38) missense probably damaging 1.00
R1595:Ptprt UTSW 2 161,810,549 (GRCm38) critical splice donor site probably null
R1939:Ptprt UTSW 2 161,927,640 (GRCm38) missense probably benign 0.45
R1987:Ptprt UTSW 2 161,766,321 (GRCm38) missense possibly damaging 0.48
R1987:Ptprt UTSW 2 161,558,898 (GRCm38) missense probably damaging 1.00
R2049:Ptprt UTSW 2 161,534,545 (GRCm38) missense probably damaging 1.00
R2140:Ptprt UTSW 2 161,811,988 (GRCm38) missense probably damaging 1.00
R2421:Ptprt UTSW 2 162,278,040 (GRCm38) splice site probably benign
R3432:Ptprt UTSW 2 161,927,529 (GRCm38) missense probably damaging 1.00
R3619:Ptprt UTSW 2 161,566,157 (GRCm38) missense probably damaging 1.00
R3757:Ptprt UTSW 2 161,812,030 (GRCm38) missense probably damaging 1.00
R3758:Ptprt UTSW 2 161,812,030 (GRCm38) missense probably damaging 1.00
R3834:Ptprt UTSW 2 161,547,387 (GRCm38) missense probably damaging 1.00
R3835:Ptprt UTSW 2 161,547,387 (GRCm38) missense probably damaging 1.00
R3915:Ptprt UTSW 2 161,555,555 (GRCm38) splice site probably benign
R4003:Ptprt UTSW 2 161,566,117 (GRCm38) splice site probably benign
R4387:Ptprt UTSW 2 161,927,650 (GRCm38) missense probably damaging 1.00
R4519:Ptprt UTSW 2 161,564,689 (GRCm38) missense probably damaging 1.00
R4618:Ptprt UTSW 2 161,553,845 (GRCm38) missense probably damaging 1.00
R4677:Ptprt UTSW 2 161,901,446 (GRCm38) critical splice donor site probably null
R4866:Ptprt UTSW 2 161,560,239 (GRCm38) missense probably damaging 1.00
R5088:Ptprt UTSW 2 162,238,175 (GRCm38) missense probably benign 0.01
R5173:Ptprt UTSW 2 161,927,756 (GRCm38) missense probably benign 0.01
R5215:Ptprt UTSW 2 162,278,164 (GRCm38) missense probably damaging 1.00
R5383:Ptprt UTSW 2 161,698,049 (GRCm38) missense probably damaging 1.00
R5398:Ptprt UTSW 2 161,927,592 (GRCm38) missense probably damaging 1.00
R5518:Ptprt UTSW 2 162,278,223 (GRCm38) missense probably damaging 0.99
R5711:Ptprt UTSW 2 161,810,604 (GRCm38) missense probably damaging 0.98
R5735:Ptprt UTSW 2 161,534,564 (GRCm38) missense probably damaging 0.98
R5834:Ptprt UTSW 2 161,560,269 (GRCm38) missense probably damaging 1.00
R5872:Ptprt UTSW 2 162,135,218 (GRCm38) missense probably damaging 1.00
R5926:Ptprt UTSW 2 161,564,686 (GRCm38) missense probably benign 0.00
R6210:Ptprt UTSW 2 162,268,029 (GRCm38) missense probably damaging 1.00
R6285:Ptprt UTSW 2 161,901,497 (GRCm38) missense possibly damaging 0.70
R6298:Ptprt UTSW 2 161,553,859 (GRCm38) missense probably damaging 1.00
R6406:Ptprt UTSW 2 161,553,783 (GRCm38) missense probably damaging 0.98
R6499:Ptprt UTSW 2 161,534,587 (GRCm38) missense probably benign 0.32
R6613:Ptprt UTSW 2 161,530,447 (GRCm38) missense probably damaging 1.00
R6622:Ptprt UTSW 2 161,553,840 (GRCm38) missense probably damaging 1.00
R7218:Ptprt UTSW 2 161,547,364 (GRCm38) missense probably damaging 1.00
R7247:Ptprt UTSW 2 161,533,523 (GRCm38) missense probably benign 0.15
R7576:Ptprt UTSW 2 161,607,305 (GRCm38) missense possibly damaging 0.88
R7733:Ptprt UTSW 2 161,575,787 (GRCm38) missense probably damaging 1.00
R7735:Ptprt UTSW 2 161,575,741 (GRCm38) missense probably damaging 1.00
R7813:Ptprt UTSW 2 161,530,493 (GRCm38) missense probably damaging 1.00
R8031:Ptprt UTSW 2 162,135,457 (GRCm38) missense probably damaging 1.00
R8074:Ptprt UTSW 2 161,927,661 (GRCm38) missense possibly damaging 0.77
R8151:Ptprt UTSW 2 162,278,085 (GRCm38) missense probably damaging 1.00
R8236:Ptprt UTSW 2 161,687,068 (GRCm38) critical splice donor site probably null
R8308:Ptprt UTSW 2 161,927,646 (GRCm38) missense probably benign 0.00
R8348:Ptprt UTSW 2 161,558,886 (GRCm38) missense probably damaging 1.00
R8362:Ptprt UTSW 2 161,551,747 (GRCm38) missense probably damaging 1.00
R8365:Ptprt UTSW 2 161,901,531 (GRCm38) missense probably benign 0.05
R8448:Ptprt UTSW 2 161,558,886 (GRCm38) missense probably damaging 1.00
R8512:Ptprt UTSW 2 161,558,863 (GRCm38) missense probably benign 0.00
R8715:Ptprt UTSW 2 161,530,543 (GRCm38) missense probably damaging 1.00
R9004:Ptprt UTSW 2 161,766,394 (GRCm38) missense probably benign 0.04
R9046:Ptprt UTSW 2 161,530,441 (GRCm38) missense possibly damaging 0.58
R9222:Ptprt UTSW 2 161,560,186 (GRCm38) missense probably damaging 1.00
R9297:Ptprt UTSW 2 161,575,778 (GRCm38) missense probably benign
R9318:Ptprt UTSW 2 161,575,778 (GRCm38) missense probably benign
R9476:Ptprt UTSW 2 161,555,461 (GRCm38) missense probably damaging 1.00
R9510:Ptprt UTSW 2 161,555,461 (GRCm38) missense probably damaging 1.00
X0064:Ptprt UTSW 2 161,927,483 (GRCm38) missense probably damaging 1.00
Z1088:Ptprt UTSW 2 162,238,121 (GRCm38) missense possibly damaging 0.86
Z1177:Ptprt UTSW 2 162,362,948 (GRCm38) missense possibly damaging 0.77
Z1177:Ptprt UTSW 2 161,732,887 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTGGGGATCAGTGTCCCTAATG -3'
(R):5'- CACTGGTGACTTAGACCTTTAGG -3'

Sequencing Primer
(F):5'- AACCACAGTCGTGTCTGAG -3'
(R):5'- ACAGGATAAAAACTAAGGATTCTGC -3'
Posted On 2022-08-09