Incidental Mutation 'IGL02420:Inppl1'
ID 292652
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: 0.842) question?
Stock # IGL02420
Quality Score
Status
Chromosome 7
Chromosomal Location 101471839-101487419 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 101481526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000035836] [ENSMUST00000165052] [ENSMUST00000185929]
AlphaFold Q6P549
Predicted Effect probably benign
Transcript: ENSMUST00000035836
SMART Domains Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737

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 noncoding transcript
Transcript: ENSMUST00000098239
Predicted Effect probably benign
Transcript: ENSMUST00000165052
SMART Domains Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737

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 probably benign
Transcript: ENSMUST00000185929
SMART Domains Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737

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 probably benign
Transcript: ENSMUST00000186316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211428
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211514
Predicted Effect probably benign
Transcript: ENSMUST00000210116
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,187,494 (GRCm39) N136S probably damaging Het
Adcy8 A G 15: 64,659,303 (GRCm39) S496P probably damaging Het
Agbl3 T A 6: 34,762,242 (GRCm39) S81T possibly damaging Het
Apobec1 A T 6: 122,558,531 (GRCm39) Y75N probably benign Het
Asic2 A G 11: 80,772,479 (GRCm39) L517P probably benign Het
Atp8a1 A G 5: 67,840,126 (GRCm39) S752P probably damaging Het
Blm T C 7: 80,145,754 (GRCm39) Y775C probably damaging Het
C1qtnf5 T C 9: 44,019,901 (GRCm39) I175T probably benign Het
Ccdc81 G A 7: 89,524,946 (GRCm39) T545I probably benign Het
Ccdc88b T C 19: 6,834,317 (GRCm39) E174G probably damaging Het
Chl1 G A 6: 103,692,330 (GRCm39) V1066M probably damaging Het
Cntn6 T A 6: 104,823,103 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyren T C 6: 34,851,404 (GRCm39) Y150C probably damaging Het
Cysrt1 T C 2: 25,129,360 (GRCm39) I51V probably benign Het
Dnah7a T C 1: 53,725,702 (GRCm39) N69S probably benign Het
Fam83d T C 2: 158,627,655 (GRCm39) L448P probably benign Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Hmcn1 T C 1: 150,598,175 (GRCm39) Y1709C probably damaging Het
Iqcc T C 4: 129,510,748 (GRCm39) T256A probably benign Het
Itprid2 T C 2: 79,465,986 (GRCm39) S35P probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Lyz1 A T 10: 117,124,535 (GRCm39) C134S probably damaging Het
Mpzl3 T C 9: 44,977,815 (GRCm39) I141T possibly damaging Het
Mterf1a T C 5: 3,941,047 (GRCm39) N274D probably damaging Het
Myo18a T A 11: 77,709,519 (GRCm39) V543D possibly damaging Het
Myo18b A T 5: 112,975,852 (GRCm39) D1332E possibly damaging Het
Or2r11 A G 6: 42,437,110 (GRCm39) V281A probably benign Het
Pcdh15 A T 10: 74,138,938 (GRCm39) D333V probably damaging Het
Plekha7 A G 7: 115,757,469 (GRCm39) Y494H probably damaging Het
Plekhg1 A G 10: 3,914,106 (GRCm39) N1276S probably damaging Het
Ppig T C 2: 69,562,571 (GRCm39) V5A probably benign Het
Prag1 A T 8: 36,614,580 (GRCm39) probably benign Het
Prom1 T C 5: 44,220,496 (GRCm39) N84S probably benign Het
Ptprh T A 7: 4,583,929 (GRCm39) Y221F probably damaging Het
Qsox2 A G 2: 26,110,731 (GRCm39) Y162H probably benign Het
Rab2a C T 4: 8,572,553 (GRCm39) T49M possibly damaging Het
Ring1 A G 17: 34,242,122 (GRCm39) S96P possibly damaging Het
Ripk3 A G 14: 56,022,691 (GRCm39) F411S probably benign Het
Rock1 T C 18: 10,070,619 (GRCm39) probably null Het
Rtn4rl1 A G 11: 75,156,645 (GRCm39) N359S probably damaging Het
Sufu A G 19: 46,413,481 (GRCm39) T76A probably damaging Het
Sugct C A 13: 17,627,053 (GRCm39) V267F probably damaging Het
Tcf4 A T 18: 69,697,210 (GRCm39) R29W probably damaging Het
Tnfsf18 A T 1: 161,331,158 (GRCm39) I103L probably benign Het
Vwf A G 6: 125,654,879 (GRCm39) E2525G 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
IGL02423:Inppl1 APN 7 101,481,450 (GRCm39) missense probably benign 0.02
IGL02965:Inppl1 APN 7 101,477,478 (GRCm39) missense possibly damaging 0.87
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 2015-04-16