Incidental Mutation 'IGL02965:Inppl1'
ID 365547
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Inppl1
Ensembl Gene ENSMUSG00000032737
Gene Name inositol polyphosphate phosphatase-like 1
Synonyms SHIP2
Accession Numbers
Essential gene? Probably essential (E-score: 0.848) question?
Stock # IGL02965
Quality Score
Status
Chromosome 7
Chromosomal Location 101471839-101487419 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 101477478 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q6P549
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: 110,071,439 (GRCm39) K1471R probably benign Het
Add1 A G 5: 34,777,467 (GRCm39) S77G probably damaging Het
Atm G T 9: 53,364,863 (GRCm39) N2642K probably damaging Het
Atp6v0a2 T A 5: 124,767,267 (GRCm39) M10K possibly damaging Het
Btd T A 14: 31,389,193 (GRCm39) S305T probably damaging Het
Cmya5 C T 13: 93,229,065 (GRCm39) V2008I probably benign Het
Cpd T G 11: 76,681,814 (GRCm39) probably benign Het
Dis3l A G 9: 64,217,766 (GRCm39) F772L probably damaging Het
Dlg5 A T 14: 24,222,091 (GRCm39) I517N probably damaging Het
Fig4 G A 10: 41,161,661 (GRCm39) T34M probably damaging Het
Flna C T X: 73,270,816 (GRCm39) V2235I probably damaging Het
Flot2 T C 11: 77,950,031 (GRCm39) I371T possibly damaging Het
Fsip2 G A 2: 82,813,398 (GRCm39) S3239N probably benign Het
Gbp3 A G 3: 142,273,343 (GRCm39) I297V probably benign Het
Gcnt3 T C 9: 69,942,235 (GRCm39) E111G probably benign Het
Gdi1 G T X: 73,351,331 (GRCm39) A148S probably benign Het
Heatr5b G A 17: 79,060,502 (GRCm39) H2058Y probably benign Het
Hsp90aa1 A G 12: 110,662,113 (GRCm39) M1T probably null Het
Il22b A G 10: 118,130,762 (GRCm39) S45P probably damaging Het
Kansl1 T C 11: 104,225,991 (GRCm39) Y975C probably damaging Het
Kif18b A G 11: 102,807,338 (GRCm39) probably benign Het
Krt40 T A 11: 99,432,492 (GRCm39) R175W probably damaging Het
Map3k19 T C 1: 127,751,803 (GRCm39) D516G probably damaging Het
Mfsd3 A G 15: 76,587,352 (GRCm39) H345R probably benign Het
Mlkl A T 8: 112,058,469 (GRCm39) I162N probably benign Het
Mtnr1a A T 8: 45,522,419 (GRCm39) N58I probably damaging Het
Nsmf T C 2: 24,951,774 (GRCm39) V499A probably damaging Het
Nudt6 A G 3: 37,473,655 (GRCm39) L22P probably damaging Het
Nxf7 T G X: 134,490,159 (GRCm39) E35A probably damaging Het
Or11h23 A C 14: 50,948,653 (GRCm39) I289L probably damaging Het
Paf1 T C 7: 28,095,629 (GRCm39) probably null Het
Pcdhb11 G T 18: 37,557,021 (GRCm39) V784L probably benign Het
Pglyrp2 T C 17: 32,637,560 (GRCm39) D156G probably benign Het
Pnpt1 A G 11: 29,106,939 (GRCm39) D670G probably damaging Het
Polr1b T A 2: 128,967,443 (GRCm39) H945Q probably benign Het
Ptk6 C T 2: 180,840,861 (GRCm39) probably benign Het
Rftn1 C T 17: 50,362,280 (GRCm39) E273K probably benign Het
Rnf125 A G 18: 21,116,168 (GRCm39) I117V probably benign Het
Robo4 A G 9: 37,321,765 (GRCm39) K742R possibly damaging Het
Sez6l T C 5: 112,623,440 (GRCm39) E37G probably damaging Het
Skint4 A T 4: 111,993,218 (GRCm39) I306L probably benign Het
Sntb1 A T 15: 55,506,081 (GRCm39) Y497* probably null Het
Snx27 C A 3: 94,489,733 (GRCm39) V42L probably damaging Het
Sorbs1 T A 19: 40,365,187 (GRCm39) T199S probably benign Het
Sorcs2 A G 5: 36,235,301 (GRCm39) Y72H probably benign Het
Spef2 G T 15: 9,725,192 (GRCm39) probably benign Het
Sucla2 G T 14: 73,816,871 (GRCm39) V204L probably benign Het
Tescl C A 7: 24,033,098 (GRCm39) V76F probably damaging Het
Tnxb T A 17: 34,928,628 (GRCm39) Y2681N possibly damaging Het
Usp42 T C 5: 143,713,769 (GRCm39) T2A probably damaging Het
Vdac3-ps1 T A 13: 18,205,431 (GRCm39) noncoding transcript Het
Wapl T A 14: 34,461,181 (GRCm39) probably benign Het
Other mutations in Inppl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Inppl1 APN 7 101,478,365 (GRCm39) missense probably damaging 1.00
IGL01633:Inppl1 APN 7 101,483,041 (GRCm39) nonsense probably null
IGL01678:Inppl1 APN 7 101,481,803 (GRCm39) missense probably benign 0.09
IGL02420:Inppl1 APN 7 101,481,526 (GRCm39) unclassified probably benign
IGL02423:Inppl1 APN 7 101,481,450 (GRCm39) missense probably benign 0.02
IGL03329:Inppl1 APN 7 101,473,587 (GRCm39) missense possibly damaging 0.48
ditzel UTSW 7 101,476,663 (GRCm39) nonsense probably null
PIT4362001:Inppl1 UTSW 7 101,475,220 (GRCm39) missense probably benign 0.34
R0310:Inppl1 UTSW 7 101,477,706 (GRCm39) splice site probably benign
R0355:Inppl1 UTSW 7 101,476,664 (GRCm39) missense probably damaging 1.00
R0394:Inppl1 UTSW 7 101,477,402 (GRCm39) splice site probably benign
R0547:Inppl1 UTSW 7 101,480,210 (GRCm39) missense probably benign 0.02
R0578:Inppl1 UTSW 7 101,480,795 (GRCm39) missense probably damaging 1.00
R1506:Inppl1 UTSW 7 101,473,174 (GRCm39) missense probably benign 0.01
R1526:Inppl1 UTSW 7 101,482,153 (GRCm39) missense probably benign 0.02
R1901:Inppl1 UTSW 7 101,472,584 (GRCm39) missense possibly damaging 0.85
R2381:Inppl1 UTSW 7 101,478,439 (GRCm39) missense probably damaging 1.00
R3690:Inppl1 UTSW 7 101,481,275 (GRCm39) missense probably damaging 0.99
R4911:Inppl1 UTSW 7 101,481,516 (GRCm39) missense possibly damaging 0.94
R5637:Inppl1 UTSW 7 101,478,055 (GRCm39) missense probably benign 0.08
R6227:Inppl1 UTSW 7 101,473,506 (GRCm39) missense possibly damaging 0.88
R6409:Inppl1 UTSW 7 101,478,168 (GRCm39) missense probably damaging 1.00
R6678:Inppl1 UTSW 7 101,481,477 (GRCm39) missense probably damaging 0.99
R6752:Inppl1 UTSW 7 101,481,749 (GRCm39) nonsense probably null
R7095:Inppl1 UTSW 7 101,476,663 (GRCm39) nonsense probably null
R7196:Inppl1 UTSW 7 101,477,993 (GRCm39) missense probably benign 0.05
R7421:Inppl1 UTSW 7 101,482,144 (GRCm39) missense probably damaging 0.99
R7575:Inppl1 UTSW 7 101,477,689 (GRCm39) missense probably damaging 1.00
R7664:Inppl1 UTSW 7 101,479,304 (GRCm39) missense probably damaging 0.97
R7767:Inppl1 UTSW 7 101,473,545 (GRCm39) missense probably benign 0.03
R8131:Inppl1 UTSW 7 101,479,268 (GRCm39) missense possibly damaging 0.50
R8206:Inppl1 UTSW 7 101,472,783 (GRCm39) missense possibly damaging 0.52
R8492:Inppl1 UTSW 7 101,475,985 (GRCm39) missense probably damaging 1.00
R8559:Inppl1 UTSW 7 101,478,834 (GRCm39) nonsense probably null
R8707:Inppl1 UTSW 7 101,478,903 (GRCm39) missense
R8876:Inppl1 UTSW 7 101,472,750 (GRCm39) missense possibly damaging 0.71
R8921:Inppl1 UTSW 7 101,472,593 (GRCm39) missense possibly damaging 0.92
R9021:Inppl1 UTSW 7 101,480,915 (GRCm39) missense probably damaging 0.96
R9113:Inppl1 UTSW 7 101,475,231 (GRCm39) missense probably benign 0.05
Posted On 2015-12-18