Mutagenetix > Incidental Mutation

Incidental Mutation 'R0355:Inppl1'

29764

Institutional Source

Beutler Lab

Gene Symbol

Inppl1

Ensembl Gene

ENSMUSG00000032737

Gene Name

inositol polyphosphate phosphatase-like 1

Synonyms

SHIP2

MMRRC Submission

038561-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.842) question?

Stock #

R0355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101471839-101487419 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101476664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 771 (Y771C)

Ref Sequence

ENSEMBL: ENSMUSP00000139910 (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

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000035836
AA Change: Y771C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737
AA Change: Y771C

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000165052
AA Change: Y771C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737
AA Change: Y771C

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000185929
AA Change: Y771C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737
AA Change: Y771C

Domain	Start	End	E-Value	Type
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: Y190C

Predicted Effect

unknown
Transcript: ENSMUST00000210116
AA Change: Y272C

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211436

Meta Mutation Damage Score

0.9345

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 90.2%

Validation Efficiency

100% (76/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,023,021 (GRCm39)	I52M	possibly damaging	Het
Agbl5	G	T	5: 31,049,335 (GRCm39)		probably null	Het
Akt2	T	C	7: 27,336,334 (GRCm39)		probably benign	Het
Arl6ip5	T	A	6: 97,209,378 (GRCm39)	S138T	probably damaging	Het
Atp9b	A	G	18: 80,952,800 (GRCm39)		probably benign	Het
Ccdc171	A	T	4: 83,553,919 (GRCm39)	N422Y	probably damaging	Het
Ccr5	C	T	9: 123,924,951 (GRCm39)	P185S	possibly damaging	Het
Cep63	G	T	9: 102,500,759 (GRCm39)	Q38K	probably benign	Het
Cgn	T	C	3: 94,682,242 (GRCm39)	S446G	probably benign	Het
Col16a1	T	A	4: 129,952,206 (GRCm39)		probably benign	Het
Csmd1	T	A	8: 15,968,330 (GRCm39)	Q3099L	probably damaging	Het
Dcc	G	A	18: 71,708,279 (GRCm39)	T479I	possibly damaging	Het
Dclre1a	A	G	19: 56,535,067 (GRCm39)		probably null	Het
Dlg1	T	A	16: 31,502,992 (GRCm39)	C66*	probably null	Het
Dnah12	T	A	14: 26,427,272 (GRCm39)		probably null	Het
Dnajb9	T	A	12: 44,253,987 (GRCm39)	H140L	probably damaging	Het
Dnase1	G	A	16: 3,857,413 (GRCm39)	V237M	probably damaging	Het
Dscam	C	A	16: 96,456,105 (GRCm39)	E1274D	probably benign	Het
Epb41	T	C	4: 131,727,572 (GRCm39)	H243R	probably damaging	Het
Evc	T	A	5: 37,473,656 (GRCm39)		probably benign	Het
Fcgrt	T	A	7: 44,752,493 (GRCm39)	M1L	unknown	Het
Flii	T	C	11: 60,610,506 (GRCm39)		probably null	Het
Gen1	A	G	12: 11,298,355 (GRCm39)		probably benign	Het
Gm10447	T	C	11: 53,347,257 (GRCm39)		probably benign	Het
Gm57858	A	G	3: 36,101,054 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,055,975 (GRCm39)		noncoding transcript	Het
Gpr137	G	C	19: 6,916,491 (GRCm39)	D253E	probably damaging	Het
Grid2ip	A	T	5: 143,343,652 (GRCm39)	D116V	probably benign	Het
Grin2c	A	G	11: 115,151,554 (GRCm39)		probably benign	Het
Havcr1	A	G	11: 46,647,051 (GRCm39)	T162A	possibly damaging	Het
Hspa1l	A	T	17: 35,196,386 (GRCm39)	T142S	probably benign	Het
Ift140	T	A	17: 25,267,409 (GRCm39)	Y602*	probably null	Het
Il18	T	A	9: 50,490,575 (GRCm39)		probably benign	Het
Ilf3	T	C	9: 21,309,266 (GRCm39)	V474A	probably damaging	Het
Ints2	T	C	11: 86,125,575 (GRCm39)	T542A	probably benign	Het
Ipo7	T	C	7: 109,648,868 (GRCm39)	Y714H	probably benign	Het
Itgbl1	T	A	14: 124,077,997 (GRCm39)	C162*	probably null	Het
Kcp	T	C	6: 29,496,926 (GRCm39)	H561R	possibly damaging	Het
Krt23	G	T	11: 99,376,613 (GRCm39)	T181N	probably benign	Het
Lrrc40	A	T	3: 157,746,108 (GRCm39)	D61V	probably damaging	Het
Lypd4	T	A	7: 24,564,691 (GRCm39)	H149L	probably benign	Het
Map3k4	A	G	17: 12,473,058 (GRCm39)	F953L	probably damaging	Het
Mctp1	C	T	13: 76,972,982 (GRCm39)	P405S	probably damaging	Het
Mfsd2a	G	A	4: 122,845,632 (GRCm39)	T173I	possibly damaging	Het
Mtus1	T	C	8: 41,535,965 (GRCm39)	T584A	probably benign	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nipsnap1	G	A	11: 4,839,957 (GRCm39)	G226E	probably damaging	Het
Nudt15	T	C	14: 73,760,824 (GRCm39)	Y89C	probably damaging	Het
Or10g7	T	A	9: 39,905,459 (GRCm39)	S118T	possibly damaging	Het
Or10h28	T	A	17: 33,488,109 (GRCm39)	M137K	probably damaging	Het
Or13p3	T	A	4: 118,566,808 (GRCm39)	M68K	probably benign	Het
Or7a37	T	G	10: 78,806,267 (GRCm39)	S261R	probably damaging	Het
Phf24	A	C	4: 42,933,891 (GRCm39)	E91A	probably damaging	Het
Plbd1	T	A	6: 136,618,165 (GRCm39)	N17I	possibly damaging	Het
Por	C	T	5: 135,761,438 (GRCm39)	S308L	probably benign	Het
Prmt8	T	A	6: 127,688,837 (GRCm39)	K178*	probably null	Het
Rev3l	A	G	10: 39,693,282 (GRCm39)	N454S	probably damaging	Het
Rps6ka2	T	C	17: 7,539,009 (GRCm39)	V309A	probably benign	Het
Slc15a5	A	G	6: 137,995,112 (GRCm39)		probably benign	Het
Slc30a6	G	A	17: 74,730,198 (GRCm39)	V363I	probably benign	Het
Snf8	G	A	11: 95,930,125 (GRCm39)	M42I	probably benign	Het
Stom	T	C	2: 35,215,371 (GRCm39)	I65V	probably benign	Het
Tacr3	C	T	3: 134,637,989 (GRCm39)	T382I	probably benign	Het
Tenm3	A	G	8: 48,682,010 (GRCm39)	V2540A	probably damaging	Het
Trabd	A	G	15: 88,969,816 (GRCm39)	T314A	possibly damaging	Het
Tyk2	T	C	9: 21,025,486 (GRCm39)		probably null	Het
Ube4a	T	C	9: 44,856,099 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,589,015 (GRCm39)	H1060R	possibly damaging	Het
Virma	A	T	4: 11,528,626 (GRCm39)	K1288*	probably null	Het
Vmn2r100	A	C	17: 19,751,582 (GRCm39)	I542L	probably benign	Het
Vwde	T	C	6: 13,187,806 (GRCm39)		probably benign	Het
Zfc3h1	T	C	10: 115,245,018 (GRCm39)	I797T	possibly damaging	Het
Zfp74	C	T	7: 29,653,466 (GRCm39)		probably benign	Het
Zkscan7	T	A	9: 122,717,872 (GRCm39)	L89Q	probably damaging	Het

Other mutations in Inppl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GCTGCTCTGAGCATCATTCTCGAAG -3'
(R):5'- AGAGACACTCTGGTCCTCACATCC -3'

Sequencing Primer
(F):5'- TCGAAGCTCTTCTTATACTCTGG -3'
(R):5'- caccagaagagggcatcag -3'

Posted On

2013-04-24