Incidental Mutation 'R7218:Ptprt'
ID 561569
Institutional Source Beutler Lab
Gene Symbol Ptprt
Ensembl Gene ENSMUSG00000053141
Gene Name protein tyrosine phosphatase receptor type T
Synonyms RPTPrho
MMRRC Submission 045290-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R7218 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 161363910-162503067 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 161389284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1270 (T1270A)
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 damaging
Transcript: ENSMUST00000109441
AA Change: T1270A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105067
Gene: ENSMUSG00000053141
AA Change: T1270A

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 damaging
Transcript: ENSMUST00000109442
AA Change: T1269A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105068
Gene: ENSMUSG00000053141
AA Change: T1269A

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: T1260A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105069
Gene: ENSMUSG00000053141
AA Change: T1260A

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: T1250A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105071
Gene: ENSMUSG00000053141
AA Change: T1250A

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (69/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik T C 17: 46,043,977 (GRCm39) T94A unknown Het
1700025G04Rik T C 1: 151,791,259 (GRCm39) R101G probably damaging Het
6430548M08Rik T A 8: 120,872,322 (GRCm39) S83R probably damaging Het
Actn2 A G 13: 12,293,799 (GRCm39) S574P probably benign Het
Ank A T 15: 27,544,407 (GRCm39) Y56F probably damaging Het
Ano7 A G 1: 93,308,191 (GRCm39) D74G probably benign Het
Apaf1 T A 10: 90,872,864 (GRCm39) T738S probably damaging Het
Apcs A T 1: 172,722,231 (GRCm39) D38E possibly damaging Het
Asap1 G A 15: 64,002,099 (GRCm39) T404M probably damaging Het
Atp8a1 T A 5: 67,860,324 (GRCm39) D717V Het
Baiap2l1 A G 5: 144,212,687 (GRCm39) S443P probably benign Het
Bmal1 A T 7: 112,886,390 (GRCm39) H149L probably damaging Het
Brix1 T C 15: 10,483,378 (GRCm39) probably null Het
C1qtnf6 T C 15: 78,411,574 (GRCm39) E34G probably benign Het
Chil3 A C 3: 106,067,853 (GRCm39) probably null Het
Chmp4c T A 3: 10,432,198 (GRCm39) L36Q probably damaging Het
Chrna2 T A 14: 66,381,320 (GRCm39) probably null Het
Clec1a C T 6: 129,413,918 (GRCm39) C57Y probably damaging Het
Clec7a G T 6: 129,445,885 (GRCm39) T95K probably damaging Het
Csf1r C A 18: 61,263,396 (GRCm39) S926R probably damaging Het
Dnajc9 A G 14: 20,438,507 (GRCm39) I61T probably benign Het
Extl1 T G 4: 134,087,080 (GRCm39) S493R probably benign Het
Fance A G 17: 28,545,148 (GRCm39) D143G probably benign Het
Fcho2 C T 13: 98,890,121 (GRCm39) probably null Het
Filip1 T C 9: 79,725,356 (GRCm39) S1088G probably benign Het
Gnat1 A C 9: 107,553,184 (GRCm39) M319R possibly damaging Het
Gpr132 A T 12: 112,816,049 (GRCm39) V259E probably damaging Het
Gprc5d T A 6: 135,093,452 (GRCm39) M152L probably benign Het
Hif3a C T 7: 16,784,513 (GRCm39) R244H probably damaging Het
Hivep3 T C 4: 119,952,649 (GRCm39) S322P possibly damaging Het
Il33 T A 19: 29,936,325 (GRCm39) F229I probably damaging Het
Il4ra A G 7: 125,174,950 (GRCm39) D386G probably benign Het
Ino80 G T 2: 119,288,608 (GRCm39) H33N probably benign Het
Ip6k1 A G 9: 107,922,781 (GRCm39) D228G unknown Het
Mamdc2 C T 19: 23,424,974 (GRCm39) A40T probably benign Het
Meis3 T C 7: 15,918,626 (GRCm39) V357A probably benign Het
Mycbp2 T C 14: 103,371,282 (GRCm39) T4199A probably benign Het
Myo7b A T 18: 32,114,054 (GRCm39) M1099K probably benign Het
Mzb1 A T 18: 35,780,975 (GRCm39) H104Q probably benign Het
Nfatc2 A G 2: 168,413,184 (GRCm39) L167P probably benign Het
Numa1 A T 7: 101,650,117 (GRCm39) S1283C probably benign Het
Nup98 T G 7: 101,841,107 (GRCm39) probably null Het
Or13p4 T C 4: 118,547,215 (GRCm39) I145V probably benign Het
Or5p55 T C 7: 107,566,874 (GRCm39) L90P probably benign Het
Pkhd1l1 A G 15: 44,386,091 (GRCm39) T1243A possibly damaging Het
Pramel39-ps C A 5: 94,451,113 (GRCm39) V338F probably benign Het
Ptpro C T 6: 137,431,596 (GRCm39) R1152W probably damaging Het
Pwwp2b A C 7: 138,836,049 (GRCm39) T497P probably damaging Het
Rab44 T A 17: 29,358,418 (GRCm39) V202E Het
Rbfox1 C T 16: 7,111,947 (GRCm39) T191I probably damaging Het
Rufy4 A G 1: 74,172,174 (GRCm39) K299R probably damaging Het
Snip1 T A 4: 124,966,712 (GRCm39) S381T probably damaging Het
Spen T C 4: 141,199,961 (GRCm39) I2889V possibly damaging Het
Spopfm2 A T 3: 94,082,856 (GRCm39) H318Q possibly damaging Het
St3gal3 T A 4: 117,814,639 (GRCm39) D218V Het
Sun1 A G 5: 139,212,442 (GRCm39) T70A unknown Het
Tbc1d23 C T 16: 56,990,745 (GRCm39) V678M probably damaging Het
Tdh T A 14: 63,733,206 (GRCm39) Y195F probably damaging Het
Tescl C T 7: 24,033,286 (GRCm39) R13H possibly damaging Het
Tfap2c T A 2: 172,399,277 (GRCm39) M508K probably benign Het
Trappc4 A G 9: 44,316,587 (GRCm39) M136T probably benign Het
Tyk2 A G 9: 21,016,350 (GRCm39) C1207R probably damaging Het
Ugt2b36 T C 5: 87,229,398 (GRCm39) Y355C probably damaging Het
Vmn1r119 T A 7: 20,745,572 (GRCm39) H270L probably benign Het
Vmn2r20 G A 6: 123,363,074 (GRCm39) P570L probably damaging Het
Wnk1 A C 6: 119,979,234 (GRCm39) Y284* probably null Het
Yars2 C T 16: 16,121,182 (GRCm39) A112V probably damaging Het
Zer1 T C 2: 29,995,024 (GRCm39) N470S probably damaging Het
Zfp747l1 A T 7: 126,983,852 (GRCm39) S417T probably benign Het
Zfp879 A C 11: 50,723,508 (GRCm39) V516G possibly damaging Het
Other mutations in Ptprt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Ptprt APN 2 161,652,544 (GRCm39) missense probably benign 0.00
IGL00565:Ptprt APN 2 161,402,111 (GRCm39) missense probably damaging 1.00
IGL00925:Ptprt APN 2 161,498,083 (GRCm39) missense possibly damaging 0.52
IGL01344:Ptprt APN 2 161,393,737 (GRCm39) missense probably damaging 1.00
IGL01432:Ptprt APN 2 162,109,999 (GRCm39) splice site probably benign
IGL02008:Ptprt APN 2 161,769,593 (GRCm39) missense probably benign 0.02
IGL02040:Ptprt APN 2 162,079,992 (GRCm39) missense probably damaging 1.00
IGL02172:Ptprt APN 2 161,397,422 (GRCm39) missense probably damaging 1.00
IGL02231:Ptprt APN 2 162,119,966 (GRCm39) critical splice donor site probably null
IGL02231:Ptprt APN 2 162,079,980 (GRCm39) missense probably damaging 1.00
IGL02232:Ptprt APN 2 161,372,437 (GRCm39) missense probably damaging 0.96
IGL02277:Ptprt APN 2 161,389,301 (GRCm39) missense probably damaging 1.00
IGL02447:Ptprt APN 2 162,120,027 (GRCm39) missense probably benign 0.01
IGL02601:Ptprt APN 2 161,608,227 (GRCm39) missense probably benign 0.10
IGL02623:Ptprt APN 2 161,449,372 (GRCm39) splice site probably benign
IGL03379:Ptprt APN 2 161,397,379 (GRCm39) nonsense probably null
Poverina UTSW 2 161,743,417 (GRCm39) missense possibly damaging 0.70
IGL03055:Ptprt UTSW 2 161,375,533 (GRCm39) missense probably damaging 0.96
R0064:Ptprt UTSW 2 161,769,711 (GRCm39) splice site probably benign
R0129:Ptprt UTSW 2 162,119,990 (GRCm39) missense probably benign 0.35
R0131:Ptprt UTSW 2 162,120,030 (GRCm39) missense probably benign 0.00
R0131:Ptprt UTSW 2 162,120,030 (GRCm39) missense probably benign 0.00
R0132:Ptprt UTSW 2 162,120,030 (GRCm39) missense probably benign 0.00
R0316:Ptprt UTSW 2 161,449,239 (GRCm39) missense probably damaging 1.00
R0454:Ptprt UTSW 2 161,395,742 (GRCm39) missense probably damaging 0.96
R0488:Ptprt UTSW 2 161,395,745 (GRCm39) missense probably damaging 0.99
R0573:Ptprt UTSW 2 161,393,668 (GRCm39) missense probably damaging 1.00
R0614:Ptprt UTSW 2 161,654,040 (GRCm39) missense possibly damaging 0.59
R0834:Ptprt UTSW 2 161,654,059 (GRCm39) splice site probably null
R1023:Ptprt UTSW 2 161,400,863 (GRCm39) missense probably damaging 1.00
R1184:Ptprt UTSW 2 161,769,692 (GRCm39) missense possibly damaging 0.82
R1253:Ptprt UTSW 2 162,120,146 (GRCm39) missense probably damaging 1.00
R1476:Ptprt UTSW 2 161,769,404 (GRCm39) missense probably damaging 1.00
R1515:Ptprt UTSW 2 162,079,954 (GRCm39) missense probably damaging 1.00
R1595:Ptprt UTSW 2 161,652,469 (GRCm39) critical splice donor site probably null
R1939:Ptprt UTSW 2 161,769,560 (GRCm39) missense probably benign 0.45
R1987:Ptprt UTSW 2 161,608,241 (GRCm39) missense possibly damaging 0.48
R1987:Ptprt UTSW 2 161,400,818 (GRCm39) missense probably damaging 1.00
R2049:Ptprt UTSW 2 161,376,465 (GRCm39) missense probably damaging 1.00
R2140:Ptprt UTSW 2 161,653,908 (GRCm39) missense probably damaging 1.00
R2421:Ptprt UTSW 2 162,119,960 (GRCm39) splice site probably benign
R3432:Ptprt UTSW 2 161,769,449 (GRCm39) missense probably damaging 1.00
R3619:Ptprt UTSW 2 161,408,077 (GRCm39) missense probably damaging 1.00
R3757:Ptprt UTSW 2 161,653,950 (GRCm39) missense probably damaging 1.00
R3758:Ptprt UTSW 2 161,653,950 (GRCm39) missense probably damaging 1.00
R3834:Ptprt UTSW 2 161,389,307 (GRCm39) missense probably damaging 1.00
R3835:Ptprt UTSW 2 161,389,307 (GRCm39) missense probably damaging 1.00
R3915:Ptprt UTSW 2 161,397,475 (GRCm39) splice site probably benign
R4003:Ptprt UTSW 2 161,408,037 (GRCm39) splice site probably benign
R4387:Ptprt UTSW 2 161,769,570 (GRCm39) missense probably damaging 1.00
R4519:Ptprt UTSW 2 161,406,609 (GRCm39) missense probably damaging 1.00
R4618:Ptprt UTSW 2 161,395,765 (GRCm39) missense probably damaging 1.00
R4677:Ptprt UTSW 2 161,743,366 (GRCm39) critical splice donor site probably null
R4866:Ptprt UTSW 2 161,402,159 (GRCm39) missense probably damaging 1.00
R5088:Ptprt UTSW 2 162,080,095 (GRCm39) missense probably benign 0.01
R5173:Ptprt UTSW 2 161,769,676 (GRCm39) missense probably benign 0.01
R5215:Ptprt UTSW 2 162,120,084 (GRCm39) missense probably damaging 1.00
R5383:Ptprt UTSW 2 161,539,969 (GRCm39) missense probably damaging 1.00
R5398:Ptprt UTSW 2 161,769,512 (GRCm39) missense probably damaging 1.00
R5518:Ptprt UTSW 2 162,120,143 (GRCm39) missense probably damaging 0.99
R5711:Ptprt UTSW 2 161,652,524 (GRCm39) missense probably damaging 0.98
R5735:Ptprt UTSW 2 161,376,484 (GRCm39) missense probably damaging 0.98
R5834:Ptprt UTSW 2 161,402,189 (GRCm39) missense probably damaging 1.00
R5872:Ptprt UTSW 2 161,977,138 (GRCm39) missense probably damaging 1.00
R5926:Ptprt UTSW 2 161,406,606 (GRCm39) missense probably benign 0.00
R6210:Ptprt UTSW 2 162,109,949 (GRCm39) missense probably damaging 1.00
R6285:Ptprt UTSW 2 161,743,417 (GRCm39) missense possibly damaging 0.70
R6298:Ptprt UTSW 2 161,395,779 (GRCm39) missense probably damaging 1.00
R6406:Ptprt UTSW 2 161,395,703 (GRCm39) missense probably damaging 0.98
R6499:Ptprt UTSW 2 161,376,507 (GRCm39) missense probably benign 0.32
R6613:Ptprt UTSW 2 161,372,367 (GRCm39) missense probably damaging 1.00
R6622:Ptprt UTSW 2 161,395,760 (GRCm39) missense probably damaging 1.00
R7247:Ptprt UTSW 2 161,375,443 (GRCm39) missense probably benign 0.15
R7576:Ptprt UTSW 2 161,449,225 (GRCm39) missense possibly damaging 0.88
R7733:Ptprt UTSW 2 161,417,707 (GRCm39) missense probably damaging 1.00
R7735:Ptprt UTSW 2 161,417,661 (GRCm39) missense probably damaging 1.00
R7813:Ptprt UTSW 2 161,372,413 (GRCm39) missense probably damaging 1.00
R8031:Ptprt UTSW 2 161,977,377 (GRCm39) missense probably damaging 1.00
R8074:Ptprt UTSW 2 161,769,581 (GRCm39) missense possibly damaging 0.77
R8151:Ptprt UTSW 2 162,120,005 (GRCm39) missense probably damaging 1.00
R8236:Ptprt UTSW 2 161,528,988 (GRCm39) critical splice donor site probably null
R8308:Ptprt UTSW 2 161,769,566 (GRCm39) missense probably benign 0.00
R8348:Ptprt UTSW 2 161,400,806 (GRCm39) missense probably damaging 1.00
R8362:Ptprt UTSW 2 161,393,667 (GRCm39) missense probably damaging 1.00
R8365:Ptprt UTSW 2 161,743,451 (GRCm39) missense probably benign 0.05
R8448:Ptprt UTSW 2 161,400,806 (GRCm39) missense probably damaging 1.00
R8512:Ptprt UTSW 2 161,400,783 (GRCm39) missense probably benign 0.00
R8715:Ptprt UTSW 2 161,372,463 (GRCm39) missense probably damaging 1.00
R9004:Ptprt UTSW 2 161,608,314 (GRCm39) missense probably benign 0.04
R9046:Ptprt UTSW 2 161,372,361 (GRCm39) missense possibly damaging 0.58
R9222:Ptprt UTSW 2 161,402,106 (GRCm39) missense probably damaging 1.00
R9297:Ptprt UTSW 2 161,417,698 (GRCm39) missense probably benign
R9318:Ptprt UTSW 2 161,417,698 (GRCm39) missense probably benign
R9476:Ptprt UTSW 2 161,397,381 (GRCm39) missense probably damaging 1.00
R9510:Ptprt UTSW 2 161,397,381 (GRCm39) missense probably damaging 1.00
R9571:Ptprt UTSW 2 161,395,732 (GRCm39) missense probably benign 0.10
X0064:Ptprt UTSW 2 161,769,403 (GRCm39) missense probably damaging 1.00
Z1088:Ptprt UTSW 2 162,080,041 (GRCm39) missense possibly damaging 0.86
Z1177:Ptprt UTSW 2 162,204,868 (GRCm39) missense possibly damaging 0.77
Z1177:Ptprt UTSW 2 161,574,807 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGACTCTGCAGGCAGTGG -3'
(R):5'- AGGCAGGTGCTGTGTGAAATC -3'

Sequencing Primer
(F):5'- GTATTGACAGTCTGACAATGCCC -3'
(R):5'- AAATCTGTTTGGCAGGCTCAG -3'
Posted On 2019-06-26