Incidental Mutation 'R9222:Ptprt'
ID 699515
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 # R9222 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 161521990-162661147 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 161560186 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1042 (T1042A)
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: T1042A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105067
Gene: ENSMUSG00000053141
AA Change: T1042A

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: T1041A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105068
Gene: ENSMUSG00000053141
AA Change: T1041A

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: T1032A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105069
Gene: ENSMUSG00000053141
AA Change: T1032A

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: T1022A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105071
Gene: ENSMUSG00000053141
AA Change: T1022A

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: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik C A 5: 138,562,300 (GRCm38) V278F unknown Het
Actr5 T A 2: 158,631,503 (GRCm38) N272K probably damaging Het
Afg3l2 T C 18: 67,434,187 (GRCm38) T198A probably benign Het
Aloxe3 A G 11: 69,133,077 (GRCm38) Y278C probably damaging Het
Apobec3 A G 15: 79,899,069 (GRCm38) I226V Het
Arap2 T A 5: 62,671,078 (GRCm38) T917S possibly damaging Het
Arhgap40 T C 2: 158,546,772 (GRCm38) L545P probably damaging Het
Atp13a5 A T 16: 29,314,654 (GRCm38) L438H probably damaging Het
Atp5s T C 12: 69,741,780 (GRCm38) V151A probably damaging Het
BC051142 A T 17: 34,429,948 (GRCm38) I43L Het
Ccdc191 T A 16: 43,905,468 (GRCm38) Y105N probably damaging Het
Ccdc7a A T 8: 128,799,129 (GRCm38) F1406L unknown Het
Celsr1 A G 15: 85,931,270 (GRCm38) V1848A possibly damaging Het
Chn1 T A 2: 73,613,155 (GRCm38) N417I probably damaging Het
Cmya5 T C 13: 93,094,071 (GRCm38) K1503R probably benign Het
Cryz T C 3: 154,611,566 (GRCm38) F141L probably benign Het
Dpep2 T A 8: 105,996,384 (GRCm38) H13L Het
Eif2b5 C T 16: 20,502,632 (GRCm38) R312* probably null Het
Evc A T 5: 37,320,306 (GRCm38) M343K probably benign Het
Fbxw17 T A 13: 50,423,331 (GRCm38) D86E probably damaging Het
Fbxw9 T A 8: 85,062,227 (GRCm38) L202Q probably damaging Het
Fkbp9 G T 6: 56,875,692 (GRCm38) V466F probably damaging Het
Fras1 G A 5: 96,657,228 (GRCm38) R1243Q probably benign Het
Fsip2 C T 2: 82,985,614 (GRCm38) T3897I probably benign Het
Fut7 T C 2: 25,425,179 (GRCm38) S150P possibly damaging Het
Gm498 G T 7: 143,881,165 (GRCm38) probably null Het
Gstm5 A G 3: 107,897,318 (GRCm38) I73V probably benign Het
Hspb9 A G 11: 100,713,943 (GRCm38) M32V possibly damaging Het
Ift80 A G 3: 68,918,561 (GRCm38) I482T possibly damaging Het
Khk C T 5: 30,921,797 (GRCm38) probably benign Het
Kmt2d A T 15: 98,849,443 (GRCm38) H3333Q unknown Het
Lamc1 G T 1: 153,243,341 (GRCm38) T844K probably damaging Het
Luc7l2 A T 6: 38,565,698 (GRCm38) I10L probably benign Het
Mosmo T A 7: 120,677,832 (GRCm38) I23N probably benign Het
Nbea AC A 3: 56,090,972 (GRCm38) probably null Het
Nfkbiz A T 16: 55,813,984 (GRCm38) V700E probably damaging Het
Nsun7 T C 5: 66,261,023 (GRCm38) V32A probably benign Het
Olfr142 C T 2: 90,252,476 (GRCm38) V171M possibly damaging Het
Oog1 A G 12: 87,606,246 (GRCm38) D104G probably damaging Het
Pde3a A G 6: 141,492,178 (GRCm38) D991G probably damaging Het
Pds5a G A 5: 65,647,938 (GRCm38) H522Y probably benign Het
Pi4ka A G 16: 17,358,361 (GRCm38) S405P Het
Plk4 T A 3: 40,806,555 (GRCm38) V440E possibly damaging Het
Prkd2 A G 7: 16,843,774 (GRCm38) I51V probably damaging Het
Rsph6a C A 7: 19,068,061 (GRCm38) T600N possibly damaging Het
Scn11a A T 9: 119,781,947 (GRCm38) V946E probably damaging Het
Sec11a G A 7: 80,915,886 (GRCm38) L170F probably damaging Het
Slc15a5 A G 6: 137,984,452 (GRCm38) I215T Het
Slc1a1 A G 19: 28,905,394 (GRCm38) I353V probably benign Het
Smox A G 2: 131,520,923 (GRCm38) E374G possibly damaging Het
Soga1 A G 2: 157,039,999 (GRCm38) V711A probably benign Het
Sytl2 A G 7: 90,401,425 (GRCm38) T727A possibly damaging Het
Taar7d A C 10: 24,028,226 (GRCm38) K335N probably benign Het
Tacc2 T A 7: 130,626,255 (GRCm38) S1557T probably benign Het
Tbx19 C A 1: 165,139,040 (GRCm38) V422L probably benign Het
Tdrd1 G T 19: 56,843,247 (GRCm38) V357F probably benign Het
Tdrd6 A G 17: 43,628,340 (GRCm38) C606R probably damaging Het
Tmcc1 C G 6: 116,043,088 (GRCm38) G468R Het
Tmem209 G A 6: 30,506,839 (GRCm38) T93I probably damaging Het
Trpv1 T C 11: 73,250,855 (GRCm38) V568A possibly damaging Het
Tubgcp2 T C 7: 140,008,052 (GRCm38) D220G probably damaging Het
Vmn1r11 A G 6: 57,138,007 (GRCm38) R219G possibly damaging Het
Zan A G 5: 137,467,201 (GRCm38) S431P 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
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
R9571:Ptprt UTSW 2 161,553,812 (GRCm38) missense probably benign 0.10
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'- TCATCTCTCTGGTTGAGGAATG -3'
(R):5'- TGATCCCTGACCACTGAGTG -3'

Sequencing Primer
(F):5'- GGAATGGTTGCAAAGTCTATTCTGAC -3'
(R):5'- CAAAGTCACCCTTGGGTTTATTCGG -3'
Posted On 2022-02-07