Mutagenetix > Incidental Mutation

Incidental Mutation 'R1433:Inpp5k'

159325

Institutional Source

Beutler Lab

Gene Symbol

Inpp5k

Ensembl Gene

ENSMUSG00000006127

Gene Name

inositol polyphosphate 5-phosphatase K

Synonyms

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

MMRRC Submission

039488-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1433 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75521814-75539697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75528317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 172 (M172V)

Ref Sequence

ENSEMBL: ENSMUSP00000006286 (fasta)

Gene Model

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

AlphaFold

Q8C5L6

Predicted Effect

probably benign
Transcript: ENSMUST00000006286
AA Change: M172V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000006286
Gene: ENSMUSG00000006127
AA Change: M172V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136605

Predicted Effect

probably benign
Transcript: ENSMUST00000150857

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.8%
20x: 87.9%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp1	C	T	12: 30,945,934 (GRCm39)	E140K	possibly damaging	Het
Acsm4	T	A	7: 119,293,042 (GRCm39)	D57E	probably damaging	Het
Adamts9	A	G	6: 92,826,271 (GRCm39)		probably null	Het
Aen	T	A	7: 78,557,060 (GRCm39)	Y303N	probably damaging	Het
Alcam	T	C	16: 52,116,115 (GRCm39)		probably null	Het
Apol7b	A	G	15: 77,309,746 (GRCm39)	L17P	probably damaging	Het
Cacna1c	A	T	6: 118,629,754 (GRCm39)	Y1058*	probably null	Het
Camk2d	T	C	3: 126,601,873 (GRCm39)	V354A	probably benign	Het
Carf	T	G	1: 60,164,017 (GRCm39)	M43R	probably damaging	Het
Casp8	T	A	1: 58,863,283 (GRCm39)	F81Y	probably damaging	Het
Cd74	G	A	18: 60,937,064 (GRCm39)	R20H	probably benign	Het
Cers5	A	T	15: 99,643,812 (GRCm39)	Y16*	probably null	Het
Chuk	A	T	19: 44,067,397 (GRCm39)	M586K	probably null	Het
D130043K22Rik	C	A	13: 25,055,324 (GRCm39)	P496Q	probably damaging	Het
Dab2	A	G	15: 6,459,419 (GRCm39)	R311G	probably damaging	Het
Depp1	A	T	6: 116,629,223 (GRCm39)	S189C	possibly damaging	Het
Diaph1	A	T	18: 38,038,187 (GRCm39)	I48N	unknown	Het
Dnajc13	T	C	9: 104,057,320 (GRCm39)	D1560G	probably damaging	Het
Dsg2	T	C	18: 20,715,780 (GRCm39)	S241P	probably damaging	Het
Efcab5	T	C	11: 76,996,204 (GRCm39)	D1119G	probably benign	Het
Efr3a	G	T	15: 65,740,906 (GRCm39)		probably benign	Het
Evc2	A	G	5: 37,550,427 (GRCm39)	K814E	probably damaging	Het
Hic2	A	G	16: 17,076,686 (GRCm39)	D505G	probably benign	Het
Ing1	T	A	8: 11,607,010 (GRCm39)	V34D	probably damaging	Het
Itgae	T	C	11: 73,006,418 (GRCm39)	V362A	probably damaging	Het
Lama2	T	A	10: 27,063,750 (GRCm39)	R1346S	probably damaging	Het
Lrrc7	T	C	3: 157,882,943 (GRCm39)	N450S	probably damaging	Het
Lrrn3	T	A	12: 41,502,583 (GRCm39)	Y578F	possibly damaging	Het
Maml2	A	T	9: 13,617,797 (GRCm39)	N381I	probably damaging	Het
Mettl15	T	G	2: 108,923,266 (GRCm39)	E385D	probably benign	Het
Mthfr	T	A	4: 148,139,900 (GRCm39)	I623N	possibly damaging	Het
Muc4	A	C	16: 32,574,448 (GRCm39)	N966T	probably benign	Het
Myoc	A	G	1: 162,476,565 (GRCm39)	Y423C	probably damaging	Het
Ncoa2	A	T	1: 13,218,602 (GRCm39)	M1409K	probably benign	Het
Ncor2	T	C	5: 125,187,039 (GRCm39)		probably benign	Het
Numb	T	C	12: 83,844,033 (GRCm39)	E395G	probably damaging	Het
Oas1g	A	G	5: 121,020,012 (GRCm39)	F198S	probably damaging	Het
Or2b28	T	C	13: 21,531,194 (GRCm39)	V32A	probably benign	Het
Or5k17	A	G	16: 58,746,049 (GRCm39)	V295A	probably benign	Het
Prdm13	T	A	4: 21,678,909 (GRCm39)	Y527F	probably damaging	Het
Prr14l	A	G	5: 32,986,177 (GRCm39)	L1106P	probably damaging	Het
Ptbp1	T	A	10: 79,699,107 (GRCm39)	I555N	probably damaging	Het
Ptchd4	A	T	17: 42,814,606 (GRCm39)	T836S	possibly damaging	Het
Rlbp1	T	C	7: 79,033,686 (GRCm39)	D3G	probably benign	Het
Sdk2	T	C	11: 113,685,871 (GRCm39)	E1883G	probably damaging	Het
Serpinc1	A	T	1: 160,820,974 (GRCm39)	K140N	probably damaging	Het
Serpind1	A	T	16: 17,160,249 (GRCm39)	Y382F	probably damaging	Het
Slc28a3	T	C	13: 58,710,920 (GRCm39)	E534G	probably damaging	Het
Slco1a7	A	G	6: 141,711,429 (GRCm39)	M94T	probably benign	Het
Ttyh2	T	A	11: 114,601,005 (GRCm39)	I418N	probably benign	Het
Tubgcp4	C	T	2: 121,005,905 (GRCm39)	Q98*	probably null	Het
Ugt2a2	A	G	5: 87,611,965 (GRCm39)	L315P	probably damaging	Het
Vwa1	A	T	4: 155,857,358 (GRCm39)	S147T	probably damaging	Het
Xylt1	T	C	7: 117,191,179 (GRCm39)	V325A	possibly damaging	Het
Zfp335	T	C	2: 164,741,376 (GRCm39)	H685R	probably damaging	Het

Other mutations in Inpp5k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Inpp5k	APN	11	75,537,646 (GRCm39)	missense	possibly damaging	0.72
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
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

Predicted Primers

PCR Primer
(F):5'- AAGTACCAGCATTTGCCCTACATCC -3'
(R):5'- TGGGAGATGGAGCACTACTGACTG -3'

Sequencing Primer
(F):5'- CTCTCTGAGACTTGAGCTAACAAGG -3'
(R):5'- ACTACTGACTGGCGGGG -3'

Posted On

2014-03-14