Incidental Mutation 'R9393:Tpte'
ID 710676
Institutional Source Beutler Lab
Gene Symbol Tpte
Ensembl Gene ENSMUSG00000031481
Gene Name transmembrane phosphatase with tensin homology
Synonyms Vsp, Pten2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R9393 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 22773457-22861432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22774990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 20 (M20K)
Ref Sequence ENSEMBL: ENSMUSP00000076435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077194] [ENSMUST00000211497] [ENSMUST00000211747]
AlphaFold G5E8H5
Predicted Effect probably benign
Transcript: ENSMUST00000077194
AA Change: M20K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481
AA Change: M20K

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
AA Change: M20K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211747
AA Change: M20K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,616,270 (GRCm39) S133G possibly damaging Het
Agps A G 2: 75,735,256 (GRCm39) E567G possibly damaging Het
Ak9 T C 10: 41,285,068 (GRCm39) I1381T unknown Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Arrb1 T A 7: 99,238,891 (GRCm39) C150S probably damaging Het
Asz1 T C 6: 18,051,330 (GRCm39) I450V probably benign Het
Atp10b A G 11: 43,063,608 (GRCm39) N181S probably damaging Het
Bptf A C 11: 106,965,134 (GRCm39) D1353E probably benign Het
Cacna2d1 T C 5: 16,140,013 (GRCm39) M1T probably null Het
Ccdc106 T A 7: 5,059,200 (GRCm39) I6N possibly damaging Het
Celf6 A T 9: 59,510,525 (GRCm39) Q252L probably benign Het
Colgalt2 A T 1: 152,360,598 (GRCm39) K212* probably null Het
Cryba4 T C 5: 112,394,632 (GRCm39) S166G probably benign Het
Cyp2w1 A G 5: 139,342,035 (GRCm39) E123G probably benign Het
Cyp4a10 G C 4: 115,382,566 (GRCm39) K285N probably damaging Het
Cyth1 G T 11: 118,074,710 (GRCm39) T197K probably benign Het
Ddhd1 A G 14: 45,894,685 (GRCm39) W262R probably damaging Het
Dnah8 T A 17: 30,872,361 (GRCm39) V450D possibly damaging Het
Eml5 C T 12: 98,842,433 (GRCm39) V222I probably benign Het
Fbxw19 A G 9: 109,324,873 (GRCm39) S15P probably damaging Het
Fhip2b G A 14: 70,831,463 (GRCm39) Q24* probably null Het
Fignl2 C A 15: 100,951,466 (GRCm39) R272L unknown Het
Gm10842 A T 11: 105,037,885 (GRCm39) D56V unknown Het
Gmps T A 3: 63,900,640 (GRCm39) N305K probably benign Het
Gnai1 A T 5: 18,565,055 (GRCm39) L38Q Het
Golim4 A T 3: 75,785,464 (GRCm39) D642E probably benign Het
Gp1ba A T 11: 70,531,293 (GRCm39) Q353L unknown Het
Gpnmb T C 6: 49,024,996 (GRCm39) S343P possibly damaging Het
Hexb G A 13: 97,313,336 (GRCm39) R507* probably null Het
Ifitm10 A T 7: 141,924,704 (GRCm39) V45D probably damaging Het
Khsrp T C 17: 57,330,350 (GRCm39) Y585C probably damaging Het
Kif21a A T 15: 90,853,981 (GRCm39) D795E probably benign Het
Klkb1 A T 8: 45,729,392 (GRCm39) V309E probably benign Het
Krtap9-1 C A 11: 99,764,664 (GRCm39) C133* probably null Het
Krtcap2 T C 3: 89,153,578 (GRCm39) probably benign Het
Lilra5 T C 7: 4,240,758 (GRCm39) M1T probably null Het
Magi1 G A 6: 93,659,890 (GRCm39) T1019I probably benign Het
Mdn1 T A 4: 32,713,825 (GRCm39) H1967Q Het
Mgat4f A G 1: 134,318,596 (GRCm39) D456G probably benign Het
Mroh2b A T 15: 4,980,666 (GRCm39) T1412S probably benign Het
Myh13 A T 11: 67,242,894 (GRCm39) M936L probably benign Het
Nalf2 C T X: 98,889,097 (GRCm39) R321W probably damaging Het
Ncapd3 A G 9: 26,962,682 (GRCm39) T373A possibly damaging Het
Noc2l T C 4: 156,320,784 (GRCm39) probably null Het
Nrg4 C T 9: 55,149,420 (GRCm39) S59N probably benign Het
Nrip1 A G 16: 76,091,353 (GRCm39) V68A probably benign Het
Or11g24 T C 14: 50,662,255 (GRCm39) V93A probably benign Het
Or9k2 T C 10: 129,999,016 (GRCm39) T60A probably benign Het
Pcdhga6 G T 18: 37,840,212 (GRCm39) probably benign Het
Phf20l1 A G 15: 66,475,955 (GRCm39) N196S probably damaging Het
Ppp4r4 T A 12: 103,571,296 (GRCm39) Y787* probably null Het
Psma8 G A 18: 14,839,298 (GRCm39) R4Q probably null Het
Reg4 A G 3: 98,137,168 (GRCm39) K46E probably benign Het
Rnf14 T A 18: 38,442,680 (GRCm39) M327K possibly damaging Het
Rtn1 A T 12: 72,263,586 (GRCm39) Y753* probably null Het
Slc26a11 A G 11: 119,259,627 (GRCm39) R275G probably benign Het
Stard9 A G 2: 120,518,656 (GRCm39) T527A possibly damaging Het
Stk26 C T X: 49,930,618 (GRCm39) probably benign Het
Tas1r1 C T 4: 152,116,413 (GRCm39) C407Y probably damaging Het
Tcstv1b A T 13: 120,634,958 (GRCm39) Y80F probably benign Het
Tenm3 A G 8: 49,127,559 (GRCm39) S40P probably damaging Het
Tespa1 T A 10: 130,183,066 (GRCm39) S4T probably damaging Het
Tlr11 A G 14: 50,599,547 (GRCm39) N511S probably benign Het
Tmprss15 A G 16: 78,754,211 (GRCm39) I1014T probably benign Het
Ttn A G 2: 76,612,390 (GRCm39) V17199A possibly damaging Het
Tubgcp3 A G 8: 12,703,411 (GRCm39) Y305H probably damaging Het
Ubr4 T A 4: 139,212,613 (GRCm39) V5081E unknown Het
Unkl T C 17: 25,448,392 (GRCm39) S322P probably damaging Het
Uqcc6 A G 10: 82,458,475 (GRCm39) S59P unknown Het
Vav3 T A 3: 109,485,682 (GRCm39) probably null Het
Vmn1r76 A G 7: 11,664,765 (GRCm39) S150P probably benign Het
Xpot A G 10: 121,445,600 (GRCm39) probably null Het
Xylt1 A G 7: 117,242,906 (GRCm39) I650V probably benign Het
Zan C A 5: 137,403,682 (GRCm39) A3955S unknown 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
R1569:Tpte UTSW 8 22,835,047 (GRCm39) missense probably damaging 0.98
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
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'- GGGGCATAGAACCTATACCAGAC -3'
(R):5'- GTGGGTCCCTTAACAAATGGAG -3'

Sequencing Primer
(F):5'- CCATTGATGACTGACTAGACCTGG -3'
(R):5'- AGAGGATGCACTTAGTCCTGCTAC -3'
Posted On 2022-04-18