Incidental Mutation 'R0834:Ptprt'
ID 77706
Institutional Source Beutler Lab
Gene Symbol Ptprt
Ensembl Gene ENSMUSG00000053141
Gene Name protein tyrosine phosphatase receptor type T
Synonyms RPTPrho
MMRRC Submission 039013-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R0834 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 161363910-162503067 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 161654059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109441] [ENSMUST00000109442] [ENSMUST00000109443] [ENSMUST00000109445]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000109441
SMART Domains Protein: ENSMUSP00000105067
Gene: ENSMUSG00000053141

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 null
Transcript: ENSMUST00000109442
SMART Domains Protein: ENSMUSP00000105068
Gene: ENSMUSG00000053141

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 null
Transcript: ENSMUST00000109443
SMART Domains Protein: ENSMUSP00000105069
Gene: ENSMUSG00000053141

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 null
Transcript: ENSMUST00000109445
SMART Domains Protein: ENSMUSP00000105071
Gene: ENSMUSG00000053141

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (86/86)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A T 6: 86,063,899 (GRCm39) E66V probably damaging Het
Aldh1a3 T C 7: 66,062,658 (GRCm39) I156V probably benign Het
Ang4 T A 14: 52,001,725 (GRCm39) K74N probably benign Het
Arcn1 A T 9: 44,670,172 (GRCm39) probably benign Het
Arhgef33 T A 17: 80,655,026 (GRCm39) probably benign Het
Atn1 A G 6: 124,720,188 (GRCm39) probably benign Het
Bmal2 A G 6: 146,724,185 (GRCm39) H359R probably damaging Het
Bmerb1 T C 16: 13,911,795 (GRCm39) L47P probably damaging Het
Brip1 T C 11: 86,083,653 (GRCm39) T123A probably benign Het
Camkv A G 9: 107,823,045 (GRCm39) Y95C probably damaging Het
Cdk12 T A 11: 98,095,211 (GRCm39) S340T probably benign Het
Ckap2l G A 2: 129,138,224 (GRCm39) probably benign Het
Clmn A T 12: 104,738,085 (GRCm39) L1042Q probably damaging Het
Clmn G T 12: 104,738,086 (GRCm39) L1042M probably damaging Het
Cluh T C 11: 74,554,631 (GRCm39) V737A probably benign Het
Cpne8 A G 15: 90,424,462 (GRCm39) V309A probably benign Het
Cpxm2 T A 7: 131,756,342 (GRCm39) probably benign Het
Csmd3 A T 15: 47,747,073 (GRCm39) probably benign Het
Ctr9 T A 7: 110,650,159 (GRCm39) S818T probably benign Het
Cyp26a1 C T 19: 37,688,405 (GRCm39) A309V probably damaging Het
Dbndd2 C T 2: 164,332,122 (GRCm39) T115I possibly damaging Het
Dhcr7 A G 7: 143,394,964 (GRCm39) N157S probably benign Het
Dlx2 C A 2: 71,375,859 (GRCm39) V155F probably damaging Het
Duox1 A T 2: 122,176,982 (GRCm39) I1470F probably damaging Het
Esrrb A T 12: 86,517,071 (GRCm39) I68F probably benign Het
Fhod3 T A 18: 25,248,862 (GRCm39) L1347* probably null Het
Fip1l1 T C 5: 74,755,721 (GRCm39) probably benign Het
Frem3 A G 8: 81,413,637 (GRCm39) Y1966C probably damaging Het
Gatd3a T C 10: 77,998,539 (GRCm39) D229G probably damaging Het
Ggt5 C T 10: 75,440,604 (GRCm39) R242C possibly damaging Het
Gm14496 G A 2: 181,637,480 (GRCm39) V185I probably benign Het
Gnptab T C 10: 88,265,814 (GRCm39) V409A probably damaging Het
Gramd1a A G 7: 30,837,589 (GRCm39) F390S possibly damaging Het
Helz2 A G 2: 180,872,570 (GRCm39) S2477P probably damaging Het
Hsd17b3 T C 13: 64,236,936 (GRCm39) K3E probably benign Het
Ift172 T C 5: 31,414,715 (GRCm39) H1395R probably benign Het
Jam2 T A 16: 84,609,855 (GRCm39) C180S probably damaging Het
Kalrn A C 16: 33,870,289 (GRCm39) S160A possibly damaging Het
Kcnk3 T C 5: 30,779,979 (GRCm39) I343T probably damaging Het
Kif13a T C 13: 46,967,712 (GRCm39) E334G probably damaging Het
Klhl41 A G 2: 69,508,491 (GRCm39) K482E possibly damaging Het
Lig3 A G 11: 82,689,113 (GRCm39) E794G probably damaging Het
Myh13 T C 11: 67,240,436 (GRCm39) M780T possibly damaging Het
Ndst2 A G 14: 20,779,761 (GRCm39) Y160H probably damaging Het
Ndufb10 T C 17: 24,941,648 (GRCm39) M90V probably damaging Het
Obscn T C 11: 59,024,104 (GRCm39) K522R probably benign Het
Olfml2b T C 1: 170,475,413 (GRCm39) S113P probably benign Het
Or14a257 T A 7: 86,138,698 (GRCm39) E20D probably benign Het
Or4a78 A G 2: 89,497,423 (GRCm39) I269T probably benign Het
Or4d10b T A 19: 12,036,979 (GRCm39) M46L probably benign Het
Or51v14 T C 7: 103,261,444 (GRCm39) T39A probably benign Het
Or6k2 T A 1: 173,986,930 (GRCm39) M197K possibly damaging Het
Parg T C 14: 31,936,511 (GRCm39) probably benign Het
Pde7a C T 3: 19,284,482 (GRCm39) C367Y probably damaging Het
Pigr T A 1: 130,772,281 (GRCm39) C166* probably null Het
Pip4k2c A T 10: 127,036,704 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prkd2 A T 7: 16,599,602 (GRCm39) probably benign Het
Rapgef5 C T 12: 117,610,741 (GRCm39) probably benign Het
Retreg1 T C 15: 25,971,756 (GRCm39) L356P probably benign Het
Rigi T A 4: 40,239,596 (GRCm39) E34V possibly damaging Het
Rnf43 A G 11: 87,622,077 (GRCm39) T393A probably benign Het
Samd3 T C 10: 26,147,725 (GRCm39) S467P probably benign Het
Scarf1 C A 11: 75,405,229 (GRCm39) C89* probably null Het
Sdk1 T C 5: 141,227,779 (GRCm39) L59S probably benign Het
Sgca C T 11: 94,861,512 (GRCm39) W244* probably null Het
Sh3d21 T C 4: 126,045,065 (GRCm39) K538R probably benign Het
Smyd4 T A 11: 75,281,958 (GRCm39) L477Q possibly damaging Het
Sra1 A G 18: 36,801,829 (GRCm39) M87T probably benign Het
Ssh2 T C 11: 77,328,459 (GRCm39) Y336H possibly damaging Het
Steap1 T C 5: 5,790,357 (GRCm39) Y197C probably damaging Het
Strn3 A G 12: 51,673,879 (GRCm39) probably benign Het
Tgm3 A G 2: 129,868,677 (GRCm39) T205A probably benign Het
Tll2 G A 19: 41,101,512 (GRCm39) T374I probably damaging Het
Tmem63b C A 17: 45,971,870 (GRCm39) D782Y possibly damaging Het
Trim10 G A 17: 37,183,283 (GRCm39) S193N probably benign Het
Ttf1 A T 2: 28,963,962 (GRCm39) K613* probably null Het
Tube1 T A 10: 39,010,168 (GRCm39) probably null Het
Uimc1 T A 13: 55,224,222 (GRCm39) probably null Het
Wwp2 G T 8: 108,283,428 (GRCm39) probably benign Het
Zfp101 C T 17: 33,601,418 (GRCm39) V113I probably benign Het
Zfp292 T C 4: 34,809,114 (GRCm39) D1310G probably benign Het
Zfp575 A T 7: 24,285,245 (GRCm39) L132H probably damaging Het
Zmym2 T C 14: 57,194,420 (GRCm39) F1226S probably damaging Het
Zswim6 A C 13: 107,862,989 (GRCm39) noncoding transcript 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
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
R7218:Ptprt UTSW 2 161,389,284 (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'- CTTGGTGGCAATCCGAGTAGTGAC -3'
(R):5'- CTGATTAAAGCTTCCCACCTCCAGC -3'

Sequencing Primer
(F):5'- TGACTGGGGGTCCAAAGC -3'
(R):5'- CCTCTCTGTAAACTCTAGCTTAAGG -3'
Posted On 2013-10-16