Incidental Mutation 'IGL02965:Inppl1'
ID365547
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Inppl1
Ensembl Gene ENSMUSG00000032737
Gene Nameinositol polyphosphate phosphatase-like 1
SynonymsSHIP2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.808) question?
Stock #IGL02965
Quality Score
Status
Chromosome7
Chromosomal Location101822632-101838229 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 101828271 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 715 (V715F)
Ref Sequence ENSEMBL: ENSMUSP00000132883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035836] [ENSMUST00000165052] [ENSMUST00000185929]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035836
AA Change: V715F

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737
AA Change: V715F

DomainStartEndE-ValueType
SH2 19 108 1.21e-26 SMART
low complexity region 116 137 N/A INTRINSIC
low complexity region 156 175 N/A INTRINSIC
Blast:IPPc 250 349 5e-14 BLAST
IPPc 423 736 3.98e-137 SMART
low complexity region 934 957 N/A INTRINSIC
low complexity region 997 1013 N/A INTRINSIC
low complexity region 1036 1047 N/A INTRINSIC
low complexity region 1049 1068 N/A INTRINSIC
low complexity region 1089 1102 N/A INTRINSIC
SAM 1192 1257 2.47e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000165052
AA Change: V715F

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737
AA Change: V715F

DomainStartEndE-ValueType
SH2 19 108 1.21e-26 SMART
low complexity region 116 137 N/A INTRINSIC
low complexity region 156 175 N/A INTRINSIC
Blast:IPPc 250 349 5e-14 BLAST
IPPc 423 736 3.98e-137 SMART
low complexity region 934 957 N/A INTRINSIC
low complexity region 997 1013 N/A INTRINSIC
low complexity region 1036 1047 N/A INTRINSIC
low complexity region 1049 1068 N/A INTRINSIC
low complexity region 1089 1102 N/A INTRINSIC
SAM 1192 1257 2.47e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000185929
AA Change: V715F

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737
AA Change: V715F

DomainStartEndE-ValueType
SH2 19 108 7.6e-29 SMART
low complexity region 116 137 N/A INTRINSIC
low complexity region 156 175 N/A INTRINSIC
Blast:IPPc 250 349 4e-14 BLAST
IPPc 423 736 1.9e-139 SMART
low complexity region 934 957 N/A INTRINSIC
low complexity region 997 1013 N/A INTRINSIC
low complexity region 1036 1047 N/A INTRINSIC
low complexity region 1049 1068 N/A INTRINSIC
low complexity region 1089 1102 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000186316
AA Change: V134F
Predicted Effect unknown
Transcript: ENSMUST00000210116
AA Change: V216F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211436
Coding Region Coverage
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 an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous mice display decreased postnatal growth, decreased circulating levels of leptin, free fatty acids, triglycerides, and total cholesterol, and resistance to diet-induced obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,180,613 K1471R probably benign Het
Add1 A G 5: 34,620,123 S77G probably damaging Het
Atm G T 9: 53,453,563 N2642K probably damaging Het
Atp6v0a2 T A 5: 124,629,202 M10K possibly damaging Het
Btd T A 14: 31,667,236 S305T probably damaging Het
Cmya5 C T 13: 93,092,557 V2008I probably benign Het
Cpd T G 11: 76,790,988 probably benign Het
Dis3l A G 9: 64,310,484 F772L probably damaging Het
Dlg5 A T 14: 24,172,023 I517N probably damaging Het
Fig4 G A 10: 41,285,665 T34M probably damaging Het
Flna C T X: 74,227,210 V2235I probably damaging Het
Flot2 T C 11: 78,059,205 I371T possibly damaging Het
Fsip2 G A 2: 82,983,054 S3239N probably benign Het
Gbp3 A G 3: 142,567,582 I297V probably benign Het
Gcnt3 T C 9: 70,034,953 E111G probably benign Het
Gdi1 G T X: 74,307,725 A148S probably benign Het
Heatr5b G A 17: 78,753,073 H2058Y probably benign Het
Hsp90aa1 A G 12: 110,695,679 M1T probably null Het
Iltifb A G 10: 118,294,857 S45P probably damaging Het
Kansl1 T C 11: 104,335,165 Y975C probably damaging Het
Kif18b A G 11: 102,916,512 probably benign Het
Krt40 T A 11: 99,541,666 R175W probably damaging Het
Map3k19 T C 1: 127,824,066 D516G probably damaging Het
Mfsd3 A G 15: 76,703,152 H345R probably benign Het
Mlkl A T 8: 111,331,837 I162N probably benign Het
Mtnr1a A T 8: 45,069,382 N58I probably damaging Het
Nsmf T C 2: 25,061,762 V499A probably damaging Het
Nudt6 A G 3: 37,419,506 L22P probably damaging Het
Nxf7 T G X: 135,589,410 E35A probably damaging Het
Olfr748 A C 14: 50,711,196 I289L probably damaging Het
Paf1 T C 7: 28,396,204 probably null Het
Pcdhb11 G T 18: 37,423,968 V784L probably benign Het
Pglyrp2 T C 17: 32,418,586 D156G probably benign Het
Pnpt1 A G 11: 29,156,939 D670G probably damaging Het
Polr1b T A 2: 129,125,523 H945Q probably benign Het
Ptk6 C T 2: 181,199,068 probably benign Het
Rftn1 C T 17: 50,055,252 E273K probably benign Het
Rnf125 A G 18: 20,983,111 I117V probably benign Het
Robo4 A G 9: 37,410,469 K742R possibly damaging Het
Sez6l T C 5: 112,475,574 E37G probably damaging Het
Skint4 A T 4: 112,136,021 I306L probably benign Het
Sntb1 A T 15: 55,642,685 Y497* probably null Het
Snx27 C A 3: 94,582,426 V42L probably damaging Het
Sorbs1 T A 19: 40,376,743 T199S probably benign Het
Sorcs2 A G 5: 36,077,957 Y72H probably benign Het
Spef2 G T 15: 9,725,106 probably benign Het
Sucla2 G T 14: 73,579,431 V204L probably benign Het
Tescl C A 7: 24,333,673 V76F probably damaging Het
Tnxb T A 17: 34,709,654 Y2681N possibly damaging Het
Usp42 T C 5: 143,728,014 T2A probably damaging Het
Vdac3-ps1 T A 13: 18,030,846 noncoding transcript Het
Wapl T A 14: 34,739,224 probably benign Het
Other mutations in Inppl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Inppl1 APN 7 101829158 missense probably damaging 1.00
IGL01633:Inppl1 APN 7 101833834 nonsense probably null
IGL01678:Inppl1 APN 7 101832596 missense probably benign 0.09
IGL02420:Inppl1 APN 7 101832319 unclassified probably benign
IGL02423:Inppl1 APN 7 101832243 missense probably benign 0.02
IGL03329:Inppl1 APN 7 101824380 missense possibly damaging 0.48
PIT4362001:Inppl1 UTSW 7 101826013 missense probably benign 0.34
R0310:Inppl1 UTSW 7 101828499 splice site probably benign
R0355:Inppl1 UTSW 7 101827457 missense probably damaging 1.00
R0394:Inppl1 UTSW 7 101828195 splice site probably benign
R0547:Inppl1 UTSW 7 101831003 missense probably benign 0.02
R0578:Inppl1 UTSW 7 101831588 missense probably damaging 1.00
R1506:Inppl1 UTSW 7 101823967 missense probably benign 0.01
R1526:Inppl1 UTSW 7 101832946 missense probably benign 0.02
R1901:Inppl1 UTSW 7 101823377 missense possibly damaging 0.85
R2381:Inppl1 UTSW 7 101829232 missense probably damaging 1.00
R3690:Inppl1 UTSW 7 101832068 missense probably damaging 0.99
R4911:Inppl1 UTSW 7 101832309 missense possibly damaging 0.94
R5637:Inppl1 UTSW 7 101828848 missense probably benign 0.08
R6227:Inppl1 UTSW 7 101824299 missense possibly damaging 0.88
R6409:Inppl1 UTSW 7 101828961 missense probably damaging 1.00
R6678:Inppl1 UTSW 7 101832270 missense probably damaging 0.99
R6752:Inppl1 UTSW 7 101832542 nonsense probably null
R7095:Inppl1 UTSW 7 101827456 nonsense probably null
R7196:Inppl1 UTSW 7 101828786 missense probably benign 0.05
Posted On2015-12-18