Incidental Mutation 'R5834:Ptprt'
ID 449442
Institutional Source Beutler Lab
Gene Symbol Ptprt
Ensembl Gene ENSMUSG00000053141
Gene Name protein tyrosine phosphatase receptor type T
Synonyms RPTPrho
MMRRC Submission 044055-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R5834 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 161363910-162503067 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 161402189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 994 (Y994C)
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 damaging
Transcript: ENSMUST00000109441
AA Change: Y1014C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105067
Gene: ENSMUSG00000053141
AA Change: Y1014C

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: Y1013C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105068
Gene: ENSMUSG00000053141
AA Change: Y1013C

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: Y1004C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105069
Gene: ENSMUSG00000053141
AA Change: Y1004C

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: Y994C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105071
Gene: ENSMUSG00000053141
AA Change: Y994C

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,227,974 (GRCm39) probably null Het
Adamts20 A C 15: 94,251,465 (GRCm39) S441A probably damaging Het
Aen T A 7: 78,557,049 (GRCm39) M299K probably damaging Het
Akap3 T C 6: 126,842,796 (GRCm39) S472P probably benign Het
Ank3 T G 10: 69,658,087 (GRCm39) V158G probably damaging Het
Arfgap1 A G 2: 180,622,955 (GRCm39) D324G probably benign Het
Aste1 A T 9: 105,280,614 (GRCm39) R448S probably benign Het
Atp10a T A 7: 58,308,366 (GRCm39) L55Q probably benign Het
C1qtnf9 G A 14: 61,016,899 (GRCm39) G143D probably damaging Het
Camsap2 A G 1: 136,208,126 (GRCm39) V1122A probably benign Het
Cbl T C 9: 44,145,076 (GRCm39) H37R probably damaging Het
Cfap61 A C 2: 145,971,069 (GRCm39) D893A probably benign Het
Chd2 T A 7: 73,128,463 (GRCm39) I841F probably damaging Het
Chd9 A G 8: 91,723,792 (GRCm39) T622A probably damaging Het
Cntnap3 A G 13: 64,896,391 (GRCm39) Y1028H probably benign Het
Crybg2 A G 4: 133,801,434 (GRCm39) T865A probably benign Het
Cyp2c55 A G 19: 39,030,511 (GRCm39) I448V probably benign Het
Cyth1 T A 11: 118,083,289 (GRCm39) probably null Het
Dcaf13 C T 15: 39,007,037 (GRCm39) R324* probably null Het
Dhx37 C A 5: 125,502,794 (GRCm39) R42L probably damaging Het
Dock1 T A 7: 134,365,662 (GRCm39) V450E probably damaging Het
Ednrb A G 14: 104,058,313 (GRCm39) L330P probably damaging Het
Eml4 T A 17: 83,785,170 (GRCm39) H778Q probably damaging Het
Evx1 T A 6: 52,292,975 (GRCm39) I227N probably damaging Het
G3bp1 T A 11: 55,388,766 (GRCm39) V326E probably benign Het
Gata2 T C 6: 88,177,729 (GRCm39) V253A probably benign Het
Gbp2 A G 3: 142,339,138 (GRCm39) N397D probably damaging Het
Gm14401 C A 2: 176,778,696 (GRCm39) H261N probably benign Het
Hacd4 A T 4: 88,316,389 (GRCm39) H243Q probably benign Het
Hsd3b1 C A 3: 98,760,255 (GRCm39) K245N possibly damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ift27 A T 15: 78,049,443 (GRCm39) C86S probably damaging Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Irs3 T A 5: 137,642,821 (GRCm39) S206C probably damaging Het
Lefty2 C T 1: 180,720,716 (GRCm39) probably benign Het
Mark3 A G 12: 111,590,921 (GRCm39) I162V probably damaging Het
Matcap1 G A 8: 106,008,755 (GRCm39) Q421* probably null Het
Mefv A C 16: 3,533,910 (GRCm39) D120E probably damaging Het
Mep1a G A 17: 43,789,055 (GRCm39) H574Y probably benign Het
Mre11a A G 9: 14,710,953 (GRCm39) I45V probably benign Het
Mtor A G 4: 148,620,993 (GRCm39) N1797S possibly damaging Het
Nav1 A C 1: 135,460,144 (GRCm39) M393R probably benign Het
Nod2 T C 8: 89,391,267 (GRCm39) S510P possibly damaging Het
Nos2 C T 11: 78,819,405 (GRCm39) T39I probably benign Het
Or2h1b A T 17: 37,462,690 (GRCm39) Y58N probably damaging Het
Or5p54 T A 7: 107,554,113 (GRCm39) H88Q probably benign Het
Pcdh7 A G 5: 57,878,970 (GRCm39) S842G possibly damaging Het
Pcdha11 T C 18: 37,145,676 (GRCm39) V589A probably damaging Het
Plaa A C 4: 94,471,706 (GRCm39) V10G probably damaging Het
Pprc1 T A 19: 46,053,659 (GRCm39) probably benign Het
Ripply2 T A 9: 86,897,943 (GRCm39) W37R probably damaging Het
Rpgrip1 A G 14: 52,395,839 (GRCm39) D1227G probably damaging Het
Scoc C T 8: 84,164,260 (GRCm39) D10N possibly damaging Het
Sdk2 A T 11: 113,745,099 (GRCm39) I732N probably damaging Het
Six2 T C 17: 85,995,092 (GRCm39) K97E probably damaging Het
Slit2 A C 5: 48,416,989 (GRCm39) N1014H probably damaging Het
Smc1b A C 15: 84,973,866 (GRCm39) L930R probably damaging Het
Spag16 T A 1: 69,962,873 (GRCm39) M340K probably benign Het
Spata31 C T 13: 65,070,480 (GRCm39) S876L probably benign Het
Spen A G 4: 141,199,154 (GRCm39) Y3135H possibly damaging Het
Spta1 A T 1: 174,012,363 (GRCm39) probably null Het
Stk3 G A 15: 34,959,164 (GRCm39) T336I probably damaging Het
Tas2r118 T A 6: 23,969,876 (GRCm39) T62S probably benign Het
Tmprss11d A G 5: 86,454,169 (GRCm39) M212T probably damaging Het
Trpc7 A G 13: 56,923,971 (GRCm39) L738P probably damaging Het
Ttll8 A G 15: 88,801,449 (GRCm39) V413A possibly damaging Het
Usb1 G A 8: 96,060,161 (GRCm39) probably benign Het
Vmn1r238 T C 18: 3,123,168 (GRCm39) E82G probably benign Het
Vmn2r114 T C 17: 23,529,599 (GRCm39) T168A possibly damaging Het
Vmn2r60 C A 7: 41,765,932 (GRCm39) P13H probably benign Het
Wdr26 A G 1: 181,030,712 (GRCm39) L194P probably damaging Het
Zfhx2 G A 14: 55,310,787 (GRCm39) Q636* probably null Het
Zfyve26 A G 12: 79,313,311 (GRCm39) Y25H probably benign 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
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'- CAGCTGGGCACAAATCAGAC -3'
(R):5'- TAATGGCCCCAATGACTCTG -3'

Sequencing Primer
(F):5'- GGGCACAAATCAGACGTTTGCTC -3'
(R):5'- CCAATGACTCTGGCAGTGAGTTAG -3'
Posted On 2016-12-20