Incidental Mutation 'R5637:Inppl1'
ID 501261
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 # R5637 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 101471839-101487419 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101478055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 652 (S652R)
Ref Sequence ENSEMBL: ENSMUSP00000132883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035836] [ENSMUST00000165052] [ENSMUST00000185929]
AlphaFold Q6P549
Predicted Effect probably benign
Transcript: ENSMUST00000035836
AA Change: S652R

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737
AA Change: S652R

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: S652R

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737
AA Change: S652R

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: S652R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737
AA Change: S652R

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: S71R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209861
Predicted Effect unknown
Transcript: ENSMUST00000210116
AA Change: S153R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211436
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd T C 1: 127,694,050 (GRCm39) F327L probably damaging Het
Adgrl3 C A 5: 81,841,391 (GRCm39) S824Y probably damaging Het
Arfip2 A G 7: 105,286,370 (GRCm39) M144T probably damaging Het
Arhgap32 A G 9: 32,158,502 (GRCm39) N179S probably damaging Het
Ash2l T C 8: 26,317,339 (GRCm39) Y249C probably damaging Het
Ccndbp1 A G 2: 120,842,165 (GRCm39) T141A probably benign Het
Cd177 T A 7: 24,455,748 (GRCm39) H258L probably benign Het
Celsr3 T C 9: 108,714,332 (GRCm39) W1956R probably damaging Het
Cep295 T C 9: 15,245,108 (GRCm39) probably null Het
Cngb1 T C 8: 95,984,549 (GRCm39) H420R probably damaging Het
Cobl C T 11: 12,246,531 (GRCm39) probably benign Het
Cobll1 T C 2: 64,956,247 (GRCm39) D337G possibly damaging Het
Dmrta1 A G 4: 89,577,068 (GRCm39) N175D probably benign Het
Dnah7b G T 1: 46,395,674 (GRCm39) V3859L possibly damaging Het
Dnah7c A G 1: 46,799,521 (GRCm39) probably null Het
Dusp4 C A 8: 35,284,451 (GRCm39) H255Q probably damaging Het
Evx1 T C 6: 52,292,751 (GRCm39) V134A possibly damaging Het
F12 T C 13: 55,570,228 (GRCm39) K93E possibly damaging Het
Fam186a A C 15: 99,839,628 (GRCm39) H2205Q possibly damaging Het
Fcgbpl1 A G 7: 27,852,277 (GRCm39) N1267D probably benign Het
Frem2 A G 3: 53,560,358 (GRCm39) I1383T probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gpr158 A G 2: 21,788,083 (GRCm39) I575V probably benign Het
Hdc A G 2: 126,458,109 (GRCm39) V71A probably benign Het
Helb G A 10: 119,941,353 (GRCm39) T445M probably benign Het
Itpripl1 T C 2: 126,984,044 (GRCm39) D26G probably damaging Het
Klc1 T A 12: 111,740,842 (GRCm39) L106H probably damaging Het
Klhl25 T A 7: 75,515,540 (GRCm39) probably null Het
Krt6a T C 15: 101,600,714 (GRCm39) D318G probably benign Het
Lrp2 T C 2: 69,302,762 (GRCm39) N2989S probably damaging Het
Lta4h A G 10: 93,304,731 (GRCm39) probably null Het
Man1c1 A G 4: 134,318,735 (GRCm39) S251P probably damaging Het
Mapre2 T C 18: 23,886,919 (GRCm39) probably benign Het
Mfap3l A T 8: 61,109,821 (GRCm39) I66F probably damaging Het
Mvk A G 5: 114,594,003 (GRCm39) E286G possibly damaging Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or14a260 G A 7: 85,984,812 (GRCm39) T264I probably benign Het
Or4f52 T A 2: 111,061,456 (GRCm39) K227N probably benign Het
Or7d11 A T 9: 19,966,279 (GRCm39) V160D possibly damaging Het
Pcdh9 A G 14: 94,123,198 (GRCm39) F991L possibly damaging Het
Pcdha9 T C 18: 37,131,426 (GRCm39) V165A probably benign Het
Pcsk6 A G 7: 65,618,745 (GRCm39) H437R probably damaging Het
Pfas C T 11: 68,884,149 (GRCm39) V589M probably damaging Het
Prpf40a A G 2: 53,046,746 (GRCm39) V288A possibly damaging Het
Rnf183 T C 4: 62,346,387 (GRCm39) D137G probably benign Het
Rsph6a A G 7: 18,788,820 (GRCm39) S51G probably benign Het
Scap G A 9: 110,210,640 (GRCm39) A991T possibly damaging Het
Sdk2 C A 11: 113,724,005 (GRCm39) V1222F probably damaging Het
Sdr16c6 T A 4: 4,063,232 (GRCm39) N181I possibly damaging Het
Semp2l2a A T 8: 13,887,713 (GRCm39) M126K possibly damaging Het
Serpinb7 A T 1: 107,356,037 (GRCm39) D20V probably damaging Het
Sh3bp2 C A 5: 34,718,392 (GRCm39) R531S possibly damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Sox2 A G 3: 34,704,677 (GRCm39) N38S probably benign Het
Spg7 C A 8: 123,821,314 (GRCm39) Q680K possibly damaging Het
Styk1 T C 6: 131,277,381 (GRCm39) E331G possibly damaging Het
Tkfc G A 19: 10,571,897 (GRCm39) R380W probably benign Het
Trib3 A G 2: 152,180,410 (GRCm39) F261S probably damaging Het
Ubr1 T A 2: 120,793,998 (GRCm39) Q62L possibly damaging Het
Vmn2r54 T C 7: 12,349,296 (GRCm39) Y762C probably benign Het
Vmn2r97 T A 17: 19,167,628 (GRCm39) Y627* probably null Het
Zfp12 A G 5: 143,231,451 (GRCm39) K625E probably damaging Het
Zw10 T C 9: 48,968,950 (GRCm39) V38A probably damaging 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
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
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'- AGAAACCCAGCTCCTTGATG -3'
(R):5'- TATCACCTTTCTCGAGAGGCG -3'

Sequencing Primer
(F):5'- TTGATGCCCCACTGCTAAC -3'
(R):5'- GTATCTGTACCCCAGGAGATCC -3'
Posted On 2017-12-01