Incidental Mutation 'PIT4362001:Inppl1'
ID 554624
Institutional Source Beutler Lab
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 # PIT4362001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 101471839-101487419 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101475220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 944 (R944G)
Ref Sequence ENSEMBL: ENSMUSP00000048057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008090] [ENSMUST00000035836] [ENSMUST00000165052] [ENSMUST00000185929]
AlphaFold Q6P549
Predicted Effect probably benign
Transcript: ENSMUST00000008090
SMART Domains Protein: ENSMUSP00000008090
Gene: ENSMUSG00000007946

DomainStartEndE-ValueType
low complexity region 40 51 N/A INTRINSIC
HOX 90 152 5.75e-27 SMART
low complexity region 183 223 N/A INTRINSIC
low complexity region 225 244 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000035836
AA Change: R944G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737
AA Change: R944G

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: ENSMUST00000165052
AA Change: R944G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737
AA Change: R944G

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
AA Change: R944G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737
AA Change: R944G

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 possibly damaging
Transcript: ENSMUST00000186316
AA Change: R363G

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000210116
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.2%
  • 10x: 87.0%
  • 20x: 78.3%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T C 17: 31,283,398 (GRCm39) S28P possibly damaging Het
Akr1c14 T C 13: 4,129,100 (GRCm39) V165A probably damaging Het
Aox1 A T 1: 58,321,839 (GRCm39) T44S probably damaging Het
Arhgap29 T A 3: 121,796,861 (GRCm39) N482K probably benign Het
Arhgef38 T A 3: 132,866,591 (GRCm39) D182V Het
Atad5 C T 11: 80,002,393 (GRCm39) H1062Y probably benign Het
Atp6v0b A G 4: 117,742,453 (GRCm39) S147P possibly damaging Het
Cblb T A 16: 51,959,905 (GRCm39) Y299* probably null Het
Ccdc28b T C 4: 129,514,818 (GRCm39) N97S probably benign Het
Cdh23 A G 10: 60,301,237 (GRCm39) V479A probably benign Het
Chuk A G 19: 44,087,022 (GRCm39) probably null Het
Cmtr2 G A 8: 110,948,968 (GRCm39) G426D probably damaging Het
Cog4 G A 8: 111,593,304 (GRCm39) D472N probably damaging Het
Creb3 T A 4: 43,565,472 (GRCm39) L193* probably null Het
Cxcr6 A T 9: 123,639,526 (GRCm39) I183F probably benign Het
Dbf4 A G 5: 8,453,664 (GRCm39) F253L probably benign Het
Dcaf8 T C 1: 172,000,364 (GRCm39) V174A probably damaging Het
Ddhd2 T C 8: 26,225,779 (GRCm39) Y526C probably damaging Het
Dnal4 A G 15: 79,647,766 (GRCm39) V33A probably benign Het
Egfl7 C T 2: 26,481,052 (GRCm39) P188L probably benign Het
Ephb3 A G 16: 21,039,607 (GRCm39) E707G probably damaging Het
Epn3 C T 11: 94,387,349 (GRCm39) R7H probably damaging Het
Fbp1 T A 13: 63,015,194 (GRCm39) I262F probably damaging Het
Fgfbp3 G A 19: 36,896,088 (GRCm39) R177* probably null Het
Gask1b C A 3: 79,794,246 (GRCm39) S238Y possibly damaging Het
Gbp5 T C 3: 142,206,471 (GRCm39) S52P probably damaging Het
Glb1l2 A T 9: 26,685,277 (GRCm39) S282T probably benign Het
Glg1 A T 8: 111,985,431 (GRCm39) V133E possibly damaging Het
Gm4787 T G 12: 81,423,949 (GRCm39) L736F probably benign Het
Gm5565 A T 5: 146,095,109 (GRCm39) S212R probably benign Het
Grin2c T C 11: 115,140,459 (GRCm39) T1220A probably benign Het
Grp T G 18: 66,019,297 (GRCm39) S133A probably benign Het
Gstp2 C A 19: 4,090,713 (GRCm39) D147Y possibly damaging Het
Igkv14-130 T C 6: 67,768,392 (GRCm39) F84L probably damaging Het
Lama2 A T 10: 27,245,132 (GRCm39) N216K probably damaging Het
Lrp2 T A 2: 69,367,882 (GRCm39) D210V probably damaging Het
Lrrc2 A T 9: 110,791,608 (GRCm39) Q120L possibly damaging Het
Lrriq1 A G 10: 102,907,055 (GRCm39) I1555T probably benign Het
Map2 G A 1: 66,451,677 (GRCm39) G189D probably benign Het
Mdc1 A G 17: 36,155,361 (GRCm39) E12G possibly damaging Het
Mdga2 T C 12: 66,844,542 (GRCm39) D152G possibly damaging Het
Med23 A G 10: 24,750,469 (GRCm39) M99V probably benign Het
Mutyh G A 4: 116,674,267 (GRCm39) V273M probably damaging Het
Neurod2 T A 11: 98,218,708 (GRCm39) Y152F probably damaging Het
Or5d3 C T 2: 88,174,357 (GRCm39) A247T probably benign Het
Or5g25 A C 2: 85,478,068 (GRCm39) L199R probably damaging Het
Or8c20 G T 9: 38,260,494 (GRCm39) L32F probably benign Het
Pcdh20 G C 14: 88,704,462 (GRCm39) P946R probably damaging Het
Pde6b T C 5: 108,571,451 (GRCm39) probably null Het
Pdzrn4 A T 15: 92,667,762 (GRCm39) D638V possibly damaging Het
Polr1b A G 2: 128,951,212 (GRCm39) D275G possibly damaging Het
Rnf157 T A 11: 116,251,143 (GRCm39) D127V probably damaging Het
Rspo4 T A 2: 151,709,803 (GRCm39) C69* probably null Het
Scara3 T C 14: 66,173,851 (GRCm39) T63A probably benign Het
Scn2a G A 2: 65,514,182 (GRCm39) E289K probably benign Het
Sh3gl2 A G 4: 85,295,786 (GRCm39) T163A probably benign Het
Slc2a10 T A 2: 165,358,213 (GRCm39) F446Y probably damaging Het
Snapc1 C T 12: 74,029,269 (GRCm39) R351C probably damaging Het
Snx6 A G 12: 54,814,815 (GRCm39) Y169H possibly damaging Het
Stab2 A T 10: 86,697,299 (GRCm39) C1996* probably null Het
Steap4 A G 5: 8,030,337 (GRCm39) T398A probably benign Het
Tep1 A T 14: 51,103,510 (GRCm39) L260Q probably benign Het
Tspan12 A T 6: 21,835,463 (GRCm39) V70D possibly damaging Het
Ttn G A 2: 76,569,362 (GRCm39) A27177V probably damaging Het
Ube3a T C 7: 58,925,870 (GRCm39) V237A possibly damaging Het
Vil1 G A 1: 74,460,542 (GRCm39) R233H probably damaging Het
Xrcc5 A G 1: 72,433,088 (GRCm39) T716A probably benign Het
Zbp1 A G 2: 173,058,783 (GRCm39) I18T probably damaging Het
Zfp292 A G 4: 34,807,524 (GRCm39) V1845A probably benign Het
Zfp407 A T 18: 84,579,393 (GRCm39) N573K possibly damaging Het
Zfp64 T C 2: 168,767,735 (GRCm39) T626A 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
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
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
Predicted Primers PCR Primer
(F):5'- TACATCCAAGGCAGAGCTGAG -3'
(R):5'- AAAGCAAGGTTCCTTCAGTGTC -3'

Sequencing Primer
(F):5'- GAGAAAAGACTCACTGGGGTCCC -3'
(R):5'- CAAGGTTCCTTCAGTGTCAAGAG -3'
Posted On 2019-06-07