Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00470:Inpp5k'

4541

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Inpp5k

Ensembl Gene

ENSMUSG00000006127

Gene Name

inositol polyphosphate 5-phosphatase K

Synonyms

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00470

Quality Score

Status

Chromosome

Chromosomal Location

75630988-75648871 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75645525 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 310 (S310P)

Ref Sequence

ENSEMBL: ENSMUSP00000006286 (fasta)

Gene Model

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

AlphaFold

Q8C5L6

Predicted Effect

probably benign
Transcript: ENSMUST00000006286
AA Change: S310P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000006286
Gene: ENSMUSG00000006127
AA Change: S310P

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	T	14: 49,773,003	S416T	probably damaging	Het
4732463B04Rik	G	T	12: 84,043,804		probably benign	Het
4921501E09Rik	T	A	17: 33,065,863	H655L	probably benign	Het
Abcd1	T	C	X: 73,717,548	L173P	probably damaging	Het
Adam18	T	A	8: 24,628,133	D41V	probably damaging	Het
Aspa	T	G	11: 73,313,621		probably benign	Het
C530008M17Rik	G	A	5: 76,866,056		probably benign	Het
Cacna2d1	T	A	5: 16,246,656		probably benign	Het
Cubn	T	A	2: 13,278,418	I3570L	probably benign	Het
Cyp2j13	G	A	4: 96,062,038	P242L	probably damaging	Het
Cysrt1	T	C	2: 25,239,501		probably benign	Het
Dchs1	A	T	7: 105,758,207	L2100H	probably damaging	Het
Ddb1	G	A	19: 10,611,664	A229T	possibly damaging	Het
Dst	A	T	1: 34,188,962	I1554F	probably damaging	Het
Dvl3	C	T	16: 20,530,939	P554L	probably damaging	Het
Fcgbp	C	A	7: 28,075,086	C28*	probably null	Het
Gm773	T	C	X: 56,202,013	D53G	probably benign	Het
Hhat	A	G	1: 192,717,017	Y272H	probably damaging	Het
Kat2a	G	A	11: 100,705,384	R782W	probably damaging	Het
Kcnh5	T	C	12: 74,897,796	D893G	probably benign	Het
Lama2	T	C	10: 27,243,742	T709A	probably benign	Het
Mcm8	G	A	2: 132,827,537	V281I	probably benign	Het
Men1	G	A	19: 6,337,207		probably null	Het
Nup133	T	G	8: 123,939,083	D201A	probably damaging	Het
Oxct2a	A	G	4: 123,323,390	L66P	possibly damaging	Het
Pcbp2	C	T	15: 102,490,713	A224V	probably damaging	Het
Pla2g4e	G	A	2: 120,185,238	S275F	probably benign	Het
Pxk	T	C	14: 8,130,754	F118L	probably damaging	Het
Sp2	C	T	11: 96,954,561	R578H	probably damaging	Het
Sphkap	A	G	1: 83,277,910	M706T	possibly damaging	Het
Tarsl2	T	C	7: 65,688,908	M689T	probably benign	Het
Trrap	T	C	5: 144,818,038	V2008A	probably damaging	Het
Txndc2	A	T	17: 65,638,574	S203T	probably benign	Het
Txnrd1	T	G	10: 82,875,662	D42E	probably damaging	Het
Zswim8	G	A	14: 20,723,181	D1746N	probably damaging	Het

Other mutations in Inpp5k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Inpp5k	APN	11	75646820	missense	possibly damaging	0.72
IGL00529:Inpp5k	APN	11	75631204	unclassified	probably benign
IGL01761:Inpp5k	APN	11	75647677	missense	possibly damaging	0.75
IGL02532:Inpp5k	APN	11	75633184	unclassified	probably benign
R0081:Inpp5k	UTSW	11	75631147	frame shift	probably null
R0206:Inpp5k	UTSW	11	75631143	missense	probably benign
R0206:Inpp5k	UTSW	11	75631143	missense	probably benign
R0520:Inpp5k	UTSW	11	75639530	nonsense	probably null
R0841:Inpp5k	UTSW	11	75633459	unclassified	probably benign
R1145:Inpp5k	UTSW	11	75633459	unclassified	probably benign
R1433:Inpp5k	UTSW	11	75637491	missense	probably benign	0.00
R1605:Inpp5k	UTSW	11	75633481	missense	probably benign	0.00
R2144:Inpp5k	UTSW	11	75647191	critical splice acceptor site	probably null
R2145:Inpp5k	UTSW	11	75647191	critical splice acceptor site	probably null
R2296:Inpp5k	UTSW	11	75639487	missense	probably damaging	1.00
R3783:Inpp5k	UTSW	11	75647686	missense	probably damaging	0.99
R3784:Inpp5k	UTSW	11	75647686	missense	probably damaging	0.99
R3785:Inpp5k	UTSW	11	75647686	missense	probably damaging	0.99
R3787:Inpp5k	UTSW	11	75647686	missense	probably damaging	0.99
R5999:Inpp5k	UTSW	11	75633100	missense	probably damaging	0.99
R6337:Inpp5k	UTSW	11	75646814	missense	probably damaging	1.00
R6405:Inpp5k	UTSW	11	75633178	critical splice donor site	probably null
R9338:Inpp5k	UTSW	11	75645585	missense	probably damaging	1.00

Posted On

2012-04-20