Incidental Mutation 'IGL03411:Tpte'
ID421784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpte
Ensembl Gene ENSMUSG00000031481
Gene Nametransmembrane phosphatase with tensin homology
SynonymsPten2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL03411
Quality Score
Status
Chromosome8
Chromosomal Location22283441-22371418 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 22325537 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 212 (V212A)
Ref Sequence ENSEMBL: ENSMUSP00000147872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077194] [ENSMUST00000211497] [ENSMUST00000211747]
Predicted Effect possibly damaging
Transcript: ENSMUST00000077194
AA Change: V212A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000076435
Gene: ENSMUSG00000031481
AA Change: V212A

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 possibly damaging
Transcript: ENSMUST00000211747
AA Change: V212A

PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,399,560 I305T probably damaging Het
Adamts18 G A 8: 113,764,297 Q513* probably null Het
Adamts6 A G 13: 104,314,334 I342V possibly damaging Het
Agtr1a A G 13: 30,381,599 T216A possibly damaging Het
Coro1b A G 19: 4,150,226 probably benign Het
Cyp4a10 G A 4: 115,525,693 probably null Het
Cyp4x1 T A 4: 115,108,785 Q448L probably benign Het
Ddx60 A T 8: 61,977,882 probably null Het
Exoc1 C A 5: 76,542,195 A194D probably damaging Het
Fastkd1 A C 2: 69,707,359 V293G probably damaging Het
Gm5773 T C 3: 93,773,957 L312P probably damaging Het
Hhla1 A G 15: 65,930,229 probably null Het
Hmcn2 A T 2: 31,346,637 E397D possibly damaging Het
Lig1 C T 7: 13,296,768 R449C probably damaging Het
Mdc1 A G 17: 35,853,126 T1189A probably benign Het
Muc4 G A 16: 32,754,318 M1397I probably benign Het
Myh15 A G 16: 49,159,967 E1484G possibly damaging Het
Neb T C 2: 52,292,878 I1019V probably benign Het
Nid1 T C 13: 13,437,889 L63P probably damaging Het
Ogfod3 A T 11: 121,177,804 *316R probably null Het
Olfr5 T C 7: 6,480,436 K240R probably benign Het
Pdpk1 A T 17: 24,101,644 V193E probably damaging Het
Phf3 G T 1: 30,804,401 P1826T probably damaging Het
Pnliprp2 A G 19: 58,760,415 I51V probably benign Het
Prpf4b C T 13: 34,895,359 L739F probably damaging Het
Rcbtb1 T A 14: 59,209,970 M1K probably null Het
Rin2 A G 2: 145,860,944 E520G probably damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Shpk A G 11: 73,215,035 T238A probably benign Het
Tmem132d A T 5: 127,984,283 Y418* probably null Het
Trim55 A T 3: 19,659,190 Y135F probably damaging Het
Ttn C T 2: 76,768,112 A19486T probably damaging Het
Vmn2r59 A T 7: 42,058,916 N22K probably benign Het
Vmn2r63 T C 7: 42,927,944 D390G probably benign Het
Vmn2r96 A G 17: 18,586,372 E527G possibly damaging Het
Vps13d C T 4: 145,149,324 E1538K probably damaging Het
Zfp64 T C 2: 168,951,542 probably null Het
Zfp827 A G 8: 79,076,487 S563G probably damaging Het
Other mutations in Tpte
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Tpte APN 8 22320882 missense probably benign 0.03
IGL01456:Tpte APN 8 22345052 splice site probably benign
IGL01947:Tpte APN 8 22355473 missense possibly damaging 0.88
IGL01975:Tpte APN 8 22349337 missense probably damaging 1.00
IGL02458:Tpte APN 8 22305858 missense probably benign
R0158:Tpte UTSW 8 22327739 missense possibly damaging 0.47
R0396:Tpte UTSW 8 22335608 splice site probably benign
R0611:Tpte UTSW 8 22336533 missense possibly damaging 0.68
R1481:Tpte UTSW 8 22355471 missense probably damaging 1.00
R1489:Tpte UTSW 8 22349389 critical splice donor site probably null
R1569:Tpte UTSW 8 22345031 missense probably damaging 0.98
R1632:Tpte UTSW 8 22349347 missense probably damaging 0.98
R1639:Tpte UTSW 8 22320897 missense probably benign 0.00
R2030:Tpte UTSW 8 22345885 missense probably damaging 1.00
R2057:Tpte UTSW 8 22318339 missense probably benign 0.13
R2519:Tpte UTSW 8 22333160 splice site probably benign
R2655:Tpte UTSW 8 22311278 critical splice acceptor site probably null
R2884:Tpte UTSW 8 22335423 nonsense probably null
R3033:Tpte UTSW 8 22320872 missense possibly damaging 0.84
R3734:Tpte UTSW 8 22359482 missense probably damaging 1.00
R3961:Tpte UTSW 8 22359415 missense probably damaging 0.99
R4050:Tpte UTSW 8 22365984 missense probably damaging 1.00
R4591:Tpte UTSW 8 22327775 missense probably benign 0.08
R4994:Tpte UTSW 8 22318346 missense probably benign 0.23
R5321:Tpte UTSW 8 22297203 nonsense probably null
R5394:Tpte UTSW 8 22327790 missense probably damaging 1.00
R5588:Tpte UTSW 8 22284967 missense possibly damaging 0.95
R5590:Tpte UTSW 8 22351452 missense probably damaging 1.00
R5670:Tpte UTSW 8 22327748 missense probably damaging 1.00
R6544:Tpte UTSW 8 22315105 critical splice donor site probably null
R6596:Tpte UTSW 8 22333269 missense probably damaging 0.99
R6729:Tpte UTSW 8 22355475 missense probably damaging 1.00
R7120:Tpte UTSW 8 22327673 missense probably damaging 1.00
R7526:Tpte UTSW 8 22325547 critical splice donor site probably null
Posted On2016-08-02