Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00096:Inpp5k'

1153

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Inpp5k

Ensembl Gene

ENSMUSG00000006127

Gene Name

inositol polyphosphate 5-phosphatase K

Synonyms

C62, PI-5-phosphatase related, putative PI-5-phosphatase, Pps

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00096

Quality Score

Status

Chromosome

Chromosomal Location

75521814-75539697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75537646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 352 (M352K)

Ref Sequence

ENSEMBL: ENSMUSP00000006286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006286] [ENSMUST00000069057] [ENSMUST00000102505] [ENSMUST00000139856] [ENSMUST00000150857]

AlphaFold

Q8C5L6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006286
AA Change: M352K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000006286
Gene: ENSMUSG00000006127
AA Change: M352K

Domain	Start	End	E-Value	Type
IPPc	30	345	1.03e-148	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000069057

SMART Domains

Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774

Domain	Start	End	E-Value	Type
MYSc	5	697	N/A	SMART
IQ	698	720	3.85e-3	SMART
IQ	721	743	2.09e-4	SMART
Blast:MYSc	751	780	5e-9	BLAST
low complexity region	804	815	N/A	INTRINSIC
Pfam:Myosin_TH1	838	1024	1.9e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102505

SMART Domains

Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774

Domain	Start	End	E-Value	Type
MYSc	40	732	N/A	SMART
IQ	733	755	3.85e-3	SMART
IQ	756	778	2.09e-4	SMART
Blast:MYSc	786	815	6e-9	BLAST
low complexity region	839	850	N/A	INTRINSIC
Pfam:Myosin_TH1	874	1052	2.9e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136605

Predicted Effect

probably benign
Transcript: ENSMUST00000139856

SMART Domains

Protein: ENSMUSP00000121060
Gene: ENSMUSG00000006127

Domain	Start	End	E-Value	Type
Blast:IPPc	18	94	4e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149134

Predicted Effect

probably benign
Transcript: ENSMUST00000150857

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous disruption of this gene leads to embryonic lethality. Adult heterozygous mutant mice show normal food intake and adiposity but exhibit enhanced glucose homeostasis and insulin sensitivity, increased insulin action in skeletal muscle, and reduced diet-induced obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	T	C	6: 125,027,477 (GRCm39)	Y42H	probably damaging	Het
Alpk1	A	T	3: 127,474,692 (GRCm39)	F437Y	probably damaging	Het
Bdp1	T	C	13: 100,197,373 (GRCm39)	D1004G	possibly damaging	Het
C9	A	C	15: 6,516,137 (GRCm39)	Q313H	probably benign	Het
Carmil1	T	A	13: 24,295,821 (GRCm39)	N398Y	possibly damaging	Het
Cyp2s1	A	G	7: 25,508,683 (GRCm39)	V253A	probably damaging	Het
Lef1	C	T	3: 130,907,499 (GRCm39)		probably benign	Het
Naip5	C	A	13: 100,382,683 (GRCm39)	E9*	probably null	Het
Or6y1	A	T	1: 174,276,233 (GRCm39)	T15S	probably benign	Het
Peli1	G	A	11: 21,092,619 (GRCm39)	V89I	probably damaging	Het
Plb1	A	G	5: 32,503,080 (GRCm39)	Q1180R	probably benign	Het
Skic2	T	A	17: 35,058,524 (GRCm39)	I1198F	probably damaging	Het
Sorcs3	T	A	19: 48,672,097 (GRCm39)		probably null	Het
Spin2f	T	A	X: 30,905,704 (GRCm39)	I51N	probably damaging	Het
Sptbn4	T	C	7: 27,068,859 (GRCm39)	K1800E	probably damaging	Het
Vmn2r67	A	T	7: 84,801,138 (GRCm39)	V266E	probably damaging	Het

Other mutations in Inpp5k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Inpp5k	APN	11	75,536,351 (GRCm39)	missense	probably benign	0.00
IGL00529:Inpp5k	APN	11	75,522,030 (GRCm39)	unclassified	probably benign
IGL01761:Inpp5k	APN	11	75,538,503 (GRCm39)	missense	possibly damaging	0.75
IGL02532:Inpp5k	APN	11	75,524,010 (GRCm39)	unclassified	probably benign
R0081:Inpp5k	UTSW	11	75,521,973 (GRCm39)	frame shift	probably null
R0206:Inpp5k	UTSW	11	75,521,969 (GRCm39)	missense	probably benign
R0206:Inpp5k	UTSW	11	75,521,969 (GRCm39)	missense	probably benign
R0520:Inpp5k	UTSW	11	75,530,356 (GRCm39)	nonsense	probably null
R0841:Inpp5k	UTSW	11	75,524,285 (GRCm39)	unclassified	probably benign
R1145:Inpp5k	UTSW	11	75,524,285 (GRCm39)	unclassified	probably benign
R1433:Inpp5k	UTSW	11	75,528,317 (GRCm39)	missense	probably benign	0.00
R1605:Inpp5k	UTSW	11	75,524,307 (GRCm39)	missense	probably benign	0.00
R2144:Inpp5k	UTSW	11	75,538,017 (GRCm39)	critical splice acceptor site	probably null
R2145:Inpp5k	UTSW	11	75,538,017 (GRCm39)	critical splice acceptor site	probably null
R2296:Inpp5k	UTSW	11	75,530,313 (GRCm39)	missense	probably damaging	1.00
R3783:Inpp5k	UTSW	11	75,538,512 (GRCm39)	missense	probably damaging	0.99
R3784:Inpp5k	UTSW	11	75,538,512 (GRCm39)	missense	probably damaging	0.99
R3785:Inpp5k	UTSW	11	75,538,512 (GRCm39)	missense	probably damaging	0.99
R3787:Inpp5k	UTSW	11	75,538,512 (GRCm39)	missense	probably damaging	0.99
R5999:Inpp5k	UTSW	11	75,523,926 (GRCm39)	missense	probably damaging	0.99
R6337:Inpp5k	UTSW	11	75,537,640 (GRCm39)	missense	probably damaging	1.00
R6405:Inpp5k	UTSW	11	75,524,004 (GRCm39)	critical splice donor site	probably null
R9338:Inpp5k	UTSW	11	75,536,411 (GRCm39)	missense	probably damaging	1.00

Posted On

2011-07-12