Mutagenetix > Incidental Mutation

Incidental Mutation 'R8559:Inppl1'

660923

Institutional Source

Beutler Lab

Gene Symbol

Inppl1

Ensembl Gene

ENSMUSG00000032737

Gene Name

inositol polyphosphate phosphatase-like 1

Synonyms

SHIP2

MMRRC Submission

068522-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.842) question?

Stock #

R8559 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101471839-101487419 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 101478834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 555 (S555*)

Ref Sequence

ENSEMBL: ENSMUSP00000048057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035836] [ENSMUST00000165052] [ENSMUST00000185929]

AlphaFold

Q6P549

Predicted Effect

probably null
Transcript: ENSMUST00000035836
AA Change: S555*

SMART Domains

Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737
AA Change: S555*

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 null
Transcript: ENSMUST00000165052
AA Change: S555*

SMART Domains

Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737
AA Change: S555*

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 null
Transcript: ENSMUST00000185929
AA Change: S555*

SMART Domains

Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737
AA Change: S555*

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

probably benign
Transcript: ENSMUST00000186316

Predicted Effect

probably null
Transcript: ENSMUST00000210116
AA Change: S56*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	T	A	10: 89,568,048 (GRCm39)	H19L	probably benign	Het
Adamts9	A	T	6: 92,784,117 (GRCm39)	V1579E	probably benign	Het
Arhgap40	C	T	2: 158,383,721 (GRCm39)	R435C	probably damaging	Het
Atp1a4	T	C	1: 172,078,897 (GRCm39)	D207G	probably damaging	Het
Btaf1	A	G	19: 36,964,273 (GRCm39)	N948S	probably benign	Het
Calcr	G	A	6: 3,692,603 (GRCm39)	P417L	probably damaging	Het
Ccn2	CCCGCCAACCGC	CCCGC	10: 24,471,966 (GRCm39)		probably null	Het
Cep250	T	A	2: 155,834,656 (GRCm39)	S2194T	probably damaging	Het
Clcn6	C	T	4: 148,111,032 (GRCm39)	V102M	possibly damaging	Het
Cog2	T	C	8: 125,269,647 (GRCm39)	S396P	probably benign	Het
Col28a1	C	A	6: 8,166,681 (GRCm39)	R265L	unknown	Het
Cpa6	C	T	1: 10,478,574 (GRCm39)	W254*	probably null	Het
Crtc2	T	A	3: 90,170,904 (GRCm39)	M659K	possibly damaging	Het
Dnah7c	A	G	1: 46,764,299 (GRCm39)	Y3020C	probably damaging	Het
Dok2	C	A	14: 71,014,968 (GRCm39)	H232N	probably benign	Het
Edem3	A	G	1: 151,694,169 (GRCm39)	E834G	probably benign	Het
Elac2	T	A	11: 64,872,502 (GRCm39)		probably null	Het
Epx	T	A	11: 87,755,618 (GRCm39)	I689F	probably damaging	Het
Exd2	G	A	12: 80,522,631 (GRCm39)	R30H	probably benign	Het
Gja1	T	C	10: 56,264,304 (GRCm39)	L221P	probably damaging	Het
Gli3	T	A	13: 15,834,717 (GRCm39)	L400Q	probably damaging	Het
Gm8439	T	A	4: 120,458,008 (GRCm39)	W50R	unknown	Het
Greb1	T	A	12: 16,746,436 (GRCm39)	D1278V	probably damaging	Het
Grin3a	C	A	4: 49,770,555 (GRCm39)	C739F	probably damaging	Het
Gucy2g	C	A	19: 55,198,786 (GRCm39)	V786F	probably benign	Het
Hmcn1	G	A	1: 150,551,789 (GRCm39)	T2605I	probably benign	Het
Hmgxb3	T	A	18: 61,288,491 (GRCm39)	T459S	probably benign	Het
Ift172	T	C	5: 31,413,921 (GRCm39)	H1469R	probably damaging	Het
Il1rap	A	G	16: 26,530,884 (GRCm39)	I407V	probably benign	Het
Krt8	T	C	15: 101,909,979 (GRCm39)	M142V	probably benign	Het
Lrrk1	T	A	7: 65,932,075 (GRCm39)	N1049I	possibly damaging	Het
Megf10	G	A	18: 57,373,699 (GRCm39)	A166T	probably damaging	Het
Mei4	A	T	9: 81,907,684 (GRCm39)	H338L	probably benign	Het
Mfsd2b	T	C	12: 4,921,471 (GRCm39)	T33A	possibly damaging	Het
Mgat3	A	T	15: 80,096,370 (GRCm39)	Y399F	probably damaging	Het
Mtmr4	C	T	11: 87,494,950 (GRCm39)	T414I	probably damaging	Het
Muc4	T	C	16: 32,754,715 (GRCm38)	S1530P	unknown	Het
Myl4	T	C	11: 104,474,930 (GRCm39)	V93A	possibly damaging	Het
N4bp2	T	A	5: 65,982,628 (GRCm39)	S1627R	possibly damaging	Het
Narf	T	G	11: 121,141,258 (GRCm39)		probably null	Het
Nbas	A	C	12: 13,402,809 (GRCm39)	I788L	probably benign	Het
Nlrc3	A	G	16: 3,783,146 (GRCm39)	S104P	probably benign	Het
Or14j6	A	T	17: 38,214,719 (GRCm39)	Y94F	probably benign	Het
Or4a68	T	A	2: 89,270,528 (GRCm39)	I32F	probably benign	Het
Or4c11	A	T	2: 88,695,527 (GRCm39)	I193L	probably benign	Het
Or8k3	A	G	2: 86,058,988 (GRCm39)	V109A	probably benign	Het
Ppp4r4	A	T	12: 103,559,420 (GRCm39)	T534S	probably benign	Het
Prg3	A	G	2: 84,819,680 (GRCm39)	E58G	probably benign	Het
Prima1	A	G	12: 103,163,512 (GRCm39)	V153A	possibly damaging	Het
Rp1	A	T	1: 4,419,784 (GRCm39)	Y443N	probably damaging	Het
Rpgrip1	T	C	14: 52,386,714 (GRCm39)	S882P	unknown	Het
Scn1a	T	A	2: 66,118,077 (GRCm39)	D412V	probably damaging	Het
Srcin1	T	C	11: 97,427,975 (GRCm39)	T180A	probably damaging	Het
Suox	A	G	10: 128,506,600 (GRCm39)	L476P	probably damaging	Het
Tas2r104	T	C	6: 131,662,388 (GRCm39)	Y107C	probably damaging	Het
Tubg2	T	C	11: 101,047,610 (GRCm39)	V65A	probably damaging	Het
Ubn1	T	C	16: 4,882,634 (GRCm39)	V365A	possibly damaging	Het
Vmn2r103	A	G	17: 20,032,646 (GRCm39)	M807V	probably benign	Het
Vmn2r75	T	A	7: 85,815,480 (GRCm39)	Y128F	possibly damaging	Het
Vps13b	A	T	15: 35,876,788 (GRCm39)	I2814F	probably damaging	Het
Vps54	T	C	11: 21,214,815 (GRCm39)	Y108H	probably damaging	Het
Wdr6	T	A	9: 108,452,593 (GRCm39)	E430V	probably benign	Het
Zfp619	T	A	7: 39,186,559 (GRCm39)	V863E	probably benign	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
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
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'- CCATGGTCAGGCATAGACAAG -3'
(R):5'- TTCCAGCCCCAAGAGAGATC -3'

Sequencing Primer
(F):5'- TCAGGCATAGACAAGAGGAGTCC -3'
(R):5'- GCCCCAAGAGAGATCACTAGG -3'

Posted On

2021-03-08