Incidental Mutation 'R1569:Tpte'
ID 177118
Institutional Source Beutler Lab
Gene Symbol Tpte
Ensembl Gene ENSMUSG00000031481
Gene Name transmembrane phosphatase with tensin homology
Synonyms Vsp, Pten2
MMRRC Submission 039608-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R1569 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 22773457-22861432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22835047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 401 (V401A)
Ref Sequence ENSEMBL: ENSMUSP00000147872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077194] [ENSMUST00000211497] [ENSMUST00000211747]
AlphaFold G5E8H5
Predicted Effect possibly damaging
Transcript: ENSMUST00000077194
AA Change: V401A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481
AA Change: V401A

DomainStartEndE-ValueType
low complexity region 146 167 N/A INTRINSIC
transmembrane domain 212 231 N/A INTRINSIC
transmembrane domain 246 265 N/A INTRINSIC
transmembrane domain 277 299 N/A INTRINSIC
low complexity region 307 329 N/A INTRINSIC
Pfam:Y_phosphatase 369 511 1.4e-6 PFAM
Pfam:DSPc 384 505 7.3e-8 PFAM
PTEN_C2 529 663 3.72e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000211497
Predicted Effect probably damaging
Transcript: ENSMUST00000211747
AA Change: V401A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
Validation Efficiency 96% (72/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,427 (GRCm39) K166* probably null Het
Abca2 T A 2: 25,329,197 (GRCm39) N1012K probably benign Het
Ahnak T C 19: 8,981,458 (GRCm39) V914A possibly damaging Het
Akap1 T A 11: 88,724,006 (GRCm39) M833L probably benign Het
Atp2b1 T A 10: 98,823,188 (GRCm39) H249Q probably benign Het
Atp6v0a4 A G 6: 38,027,560 (GRCm39) V750A probably damaging Het
Car6 T C 4: 150,285,499 (GRCm39) Y23C probably damaging Het
Celsr3 A G 9: 108,706,267 (GRCm39) T917A probably damaging Het
Clmn C A 12: 104,747,340 (GRCm39) D736Y probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dennd4c G A 4: 86,704,331 (GRCm39) R282H possibly damaging Het
Dsg1b T A 18: 20,529,537 (GRCm39) N327K probably damaging Het
Eftud2 A T 11: 102,745,597 (GRCm39) probably benign Het
Esyt1 G T 10: 128,354,863 (GRCm39) S512R possibly damaging Het
Fam124b T C 1: 80,190,852 (GRCm39) Y177C possibly damaging Het
Fbxl5 A T 5: 43,922,803 (GRCm39) I205K probably damaging Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Gabpb1 A T 2: 126,494,171 (GRCm39) D151E probably benign Het
Gcc2 C T 10: 58,105,993 (GRCm39) L310F probably benign Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Htr1b A G 9: 81,514,340 (GRCm39) V89A probably benign Het
Ibsp A T 5: 104,458,017 (GRCm39) T185S probably damaging Het
Igfn1 T C 1: 135,896,771 (GRCm39) D1265G probably benign Het
Ints9 T C 14: 65,217,571 (GRCm39) Y33H possibly damaging Het
Kif1a A T 1: 92,986,532 (GRCm39) probably benign Het
Lama1 A T 17: 68,087,613 (GRCm39) probably null Het
Lbp A T 2: 158,161,607 (GRCm39) D223V probably damaging Het
Lck C A 4: 129,449,449 (GRCm39) D283Y probably damaging Het
Lcmt2 A G 2: 120,970,309 (GRCm39) F258S probably damaging Het
Lsg1 G T 16: 30,399,823 (GRCm39) probably null Het
Maip1 T C 1: 57,452,554 (GRCm39) probably benign Het
Mark3 T G 12: 111,600,180 (GRCm39) I465S probably benign Het
Marveld2 C T 13: 100,737,506 (GRCm39) V128I probably benign Het
Mcm3ap A G 10: 76,319,022 (GRCm39) H750R possibly damaging Het
Mdn1 A T 4: 32,723,501 (GRCm39) Q2479L probably null Het
Met A T 6: 17,531,503 (GRCm39) K594* probably null Het
Pak2 G T 16: 31,856,113 (GRCm39) S241R probably damaging Het
Plxna4 T C 6: 32,162,410 (GRCm39) I1368V possibly damaging Het
Pparg T C 6: 115,416,960 (GRCm39) I51T probably benign Het
Ppp1r18 A G 17: 36,179,595 (GRCm39) E62G probably damaging Het
Prkag2 T C 5: 25,152,475 (GRCm39) S86G possibly damaging Het
Rabgap1l A T 1: 160,529,960 (GRCm39) I347K probably benign Het
Rdh1 A T 10: 127,598,941 (GRCm39) M141L probably benign Het
Rfx2 A T 17: 57,111,326 (GRCm39) I82N possibly damaging Het
Sh2b2 G A 5: 136,260,589 (GRCm39) A209V possibly damaging Het
Sh3d19 G A 3: 86,033,951 (GRCm39) R768H possibly damaging Het
Sh3rf1 C T 8: 61,837,896 (GRCm39) P814S probably damaging Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Slc15a2 T C 16: 36,576,745 (GRCm39) T430A probably benign Het
Slc17a3 A T 13: 24,039,591 (GRCm39) I250F probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 A G 2: 121,932,187 (GRCm39) S552P probably damaging Het
Srpk2 A G 5: 23,719,024 (GRCm39) I597T probably damaging Het
St6galnac1 T G 11: 116,660,097 (GRCm39) N72T possibly damaging Het
Tecpr2 T A 12: 110,911,321 (GRCm39) probably null Het
Tmem208 T A 8: 106,061,462 (GRCm39) C163S possibly damaging Het
Trhde A G 10: 114,282,093 (GRCm39) W795R possibly damaging Het
Trpm3 G A 19: 22,866,809 (GRCm39) probably null Het
Ttn T A 2: 76,626,063 (GRCm39) T14999S possibly damaging Het
Txndc2 A T 17: 65,945,921 (GRCm39) N85K probably benign Het
Yes1 A G 5: 32,810,507 (GRCm39) Y192C probably damaging Het
Zan A G 5: 137,427,392 (GRCm39) V2415A unknown Het
Zfp410 T A 12: 84,379,726 (GRCm39) C311S probably damaging Het
Zfp51 A T 17: 21,676,642 (GRCm39) M38L probably benign Het
Zfp560 A T 9: 20,260,011 (GRCm39) C284S possibly damaging Het
Zfp808 C T 13: 62,320,714 (GRCm39) R648* probably null Het
Zfp976 G T 7: 42,262,806 (GRCm39) H344N probably damaging Het
Other mutations in Tpte
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Tpte APN 8 22,810,898 (GRCm39) missense probably benign 0.03
IGL01456:Tpte APN 8 22,835,068 (GRCm39) splice site probably benign
IGL01947:Tpte APN 8 22,845,489 (GRCm39) missense possibly damaging 0.88
IGL01975:Tpte APN 8 22,839,353 (GRCm39) missense probably damaging 1.00
IGL02458:Tpte APN 8 22,795,874 (GRCm39) missense probably benign
IGL03411:Tpte APN 8 22,815,553 (GRCm39) missense possibly damaging 0.64
R0158:Tpte UTSW 8 22,817,755 (GRCm39) missense possibly damaging 0.47
R0396:Tpte UTSW 8 22,825,624 (GRCm39) splice site probably benign
R0611:Tpte UTSW 8 22,826,549 (GRCm39) missense possibly damaging 0.68
R1481:Tpte UTSW 8 22,845,487 (GRCm39) missense probably damaging 1.00
R1489:Tpte UTSW 8 22,839,405 (GRCm39) critical splice donor site probably null
R1632:Tpte UTSW 8 22,839,363 (GRCm39) missense probably damaging 0.98
R1639:Tpte UTSW 8 22,810,913 (GRCm39) missense probably benign 0.00
R2030:Tpte UTSW 8 22,835,901 (GRCm39) missense probably damaging 1.00
R2057:Tpte UTSW 8 22,808,355 (GRCm39) missense probably benign 0.13
R2519:Tpte UTSW 8 22,823,176 (GRCm39) splice site probably benign
R2655:Tpte UTSW 8 22,801,294 (GRCm39) critical splice acceptor site probably null
R2884:Tpte UTSW 8 22,825,439 (GRCm39) nonsense probably null
R3033:Tpte UTSW 8 22,810,888 (GRCm39) missense possibly damaging 0.84
R3734:Tpte UTSW 8 22,849,498 (GRCm39) missense probably damaging 1.00
R3961:Tpte UTSW 8 22,849,431 (GRCm39) missense probably damaging 0.99
R4050:Tpte UTSW 8 22,856,000 (GRCm39) missense probably damaging 1.00
R4591:Tpte UTSW 8 22,817,791 (GRCm39) missense probably benign 0.08
R4994:Tpte UTSW 8 22,808,362 (GRCm39) missense probably benign 0.23
R5321:Tpte UTSW 8 22,787,219 (GRCm39) nonsense probably null
R5394:Tpte UTSW 8 22,817,806 (GRCm39) missense probably damaging 1.00
R5588:Tpte UTSW 8 22,774,983 (GRCm39) missense possibly damaging 0.95
R5590:Tpte UTSW 8 22,841,468 (GRCm39) missense probably damaging 1.00
R5670:Tpte UTSW 8 22,817,764 (GRCm39) missense probably damaging 1.00
R6544:Tpte UTSW 8 22,805,121 (GRCm39) critical splice donor site probably null
R6596:Tpte UTSW 8 22,823,285 (GRCm39) missense probably damaging 0.99
R6729:Tpte UTSW 8 22,845,491 (GRCm39) missense probably damaging 1.00
R7120:Tpte UTSW 8 22,817,689 (GRCm39) missense probably damaging 1.00
R7526:Tpte UTSW 8 22,815,563 (GRCm39) critical splice donor site probably null
R7575:Tpte UTSW 8 22,845,498 (GRCm39) missense probably damaging 1.00
R9099:Tpte UTSW 8 22,845,497 (GRCm39) missense
R9248:Tpte UTSW 8 22,841,489 (GRCm39) missense possibly damaging 0.95
R9393:Tpte UTSW 8 22,774,990 (GRCm39) missense probably benign
R9682:Tpte UTSW 8 22,841,493 (GRCm39) missense probably damaging 1.00
RF006:Tpte UTSW 8 22,796,959 (GRCm39) missense probably benign
Z1176:Tpte UTSW 8 22,823,209 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCAATGAGAGGCAGGTGAAAC -3'
(R):5'- ACCACAAGAACAGGCATTTCCTGAC -3'

Sequencing Primer
(F):5'- GGCAGGTGAAACAATAGTAACC -3'
(R):5'- AAAGTTCTTTGTGCCGACCAG -3'
Posted On 2014-04-24