Mutagenetix > Incidental Mutation

Incidental Mutation 'R0520:Inpp5k'

48466

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

038713-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0520 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75521814-75539697 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 75530356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 265 (Y265*)

Ref Sequence

ENSEMBL: ENSMUSP00000006286 (fasta)

Gene Model

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

AlphaFold

Q8C5L6

Predicted Effect

probably null
Transcript: ENSMUST00000006286
AA Change: Y265*

SMART Domains

Protein: ENSMUSP00000006286
Gene: ENSMUSG00000006127
AA Change: Y265*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	C	14: 103,288,952 (GRCm39)	I154T	possibly damaging	Het
Acr	G	T	15: 89,457,430 (GRCm39)	C226F	probably damaging	Het
Aff1	C	T	5: 103,995,617 (GRCm39)	R1070*	probably null	Het
Aldh9a1	C	T	1: 167,188,960 (GRCm39)		probably benign	Het
Apaf1	A	T	10: 90,915,851 (GRCm39)	H12Q	probably damaging	Het
Asic1	A	T	15: 99,593,416 (GRCm39)	I291F	probably damaging	Het
Aspm	T	A	1: 139,406,558 (GRCm39)	M1815K	possibly damaging	Het
Asxl3	A	T	18: 22,656,043 (GRCm39)	D1351V	probably damaging	Het
Atg9a	C	T	1: 75,163,178 (GRCm39)	W299*	probably null	Het
B3gntl1	C	A	11: 121,514,314 (GRCm39)	V313F	possibly damaging	Het
B4galnt4	T	A	7: 140,647,286 (GRCm39)	C345*	probably null	Het
Bicc1	A	T	10: 70,793,020 (GRCm39)	F211L	probably damaging	Het
Cachd1	T	G	4: 100,754,900 (GRCm39)	V117G	probably damaging	Het
Cdc16	G	A	8: 13,810,569 (GRCm39)		probably null	Het
Cers6	C	T	2: 68,935,435 (GRCm39)	Q312*	probably null	Het
Csta2	A	G	16: 36,073,461 (GRCm39)	I16V	probably benign	Het
Dclre1c	A	G	2: 3,437,512 (GRCm39)	H115R	probably damaging	Het
Ddx20	T	C	3: 105,594,692 (GRCm39)	T18A	probably benign	Het
Dhx57	A	G	17: 80,565,604 (GRCm39)	V816A	possibly damaging	Het
Dlgap1	C	T	17: 70,823,989 (GRCm39)	Q325*	probably null	Het
Dnaja1	A	T	4: 40,728,072 (GRCm39)	M178L	probably benign	Het
Ecd	A	T	14: 20,378,732 (GRCm39)	S454T	probably benign	Het
Efcab6	G	A	15: 83,834,247 (GRCm39)	H454Y	probably benign	Het
Exo1	T	A	1: 175,727,031 (GRCm39)	D447E	probably benign	Het
F5	T	G	1: 164,037,156 (GRCm39)	I1965S	probably benign	Het
Fbn2	A	G	18: 58,146,821 (GRCm39)	C2692R	probably damaging	Het
Fggy	T	A	4: 95,489,340 (GRCm39)	L152Q	probably damaging	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Gm9871	A	G	6: 101,778,540 (GRCm39)		noncoding transcript	Het
Gnai2	A	T	9: 107,497,372 (GRCm39)	D7E	probably benign	Het
Gon7	C	T	12: 102,724,047 (GRCm39)		probably benign	Het
H2-K2	A	T	17: 34,216,390 (GRCm39)	V272E	probably damaging	Het
Hectd4	G	T	5: 121,469,770 (GRCm39)	R2555L	possibly damaging	Het
Hexb	T	C	13: 97,317,618 (GRCm39)	R360G	probably benign	Het
Igsf9b	C	A	9: 27,234,546 (GRCm39)	S470R	probably benign	Het
Inpp5d	T	C	1: 87,633,642 (GRCm39)		probably benign	Het
Klhl33	T	G	14: 51,129,140 (GRCm39)	E436D	probably damaging	Het
Krt80	A	G	15: 101,267,898 (GRCm39)	L13P	probably benign	Het
Krtap19-2	C	T	16: 88,670,749 (GRCm39)		probably benign	Het
Marchf10	T	C	11: 105,280,708 (GRCm39)	T526A	probably benign	Het
Mcrs1	A	G	15: 99,146,336 (GRCm39)		probably null	Het
Msh2	G	T	17: 88,024,972 (GRCm39)	V617F	possibly damaging	Het
Nckap1	A	C	2: 80,371,874 (GRCm39)		probably benign	Het
Nek4	T	A	14: 30,681,263 (GRCm39)		probably benign	Het
Or7h8	G	A	9: 20,123,791 (GRCm39)	V49I	probably benign	Het
Or8b12b	T	C	9: 37,684,849 (GRCm39)	V298A	probably benign	Het
Or8k22	G	T	2: 86,163,475 (GRCm39)	T75K	probably damaging	Het
Or9s14	T	A	1: 92,536,471 (GRCm39)	V304E	probably damaging	Het
Osgin1	A	G	8: 120,169,247 (GRCm39)	H48R	probably damaging	Het
Pam	T	A	1: 97,811,920 (GRCm39)	T369S	probably benign	Het
Pclo	C	T	5: 14,763,844 (GRCm39)	Q821*	probably null	Het
Plekhm1	T	C	11: 103,285,770 (GRCm39)	I222V	probably benign	Het
Ptprg	T	G	14: 12,199,783 (GRCm38)	N65K	possibly damaging	Het
Pum2	T	A	12: 8,771,710 (GRCm39)	V351E	probably damaging	Het
Slc25a54	T	A	3: 109,014,546 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,736,538 (GRCm39)	D587E	possibly damaging	Het
Stap1	A	G	5: 86,238,823 (GRCm39)	M164V	probably benign	Het
Stat5a	T	C	11: 100,752,252 (GRCm39)	V30A	probably damaging	Het
Stk36	T	G	1: 74,641,365 (GRCm39)		probably benign	Het
Tiam1	G	T	16: 89,614,839 (GRCm39)		probably benign	Het
Tmc5	T	C	7: 118,265,799 (GRCm39)	M553T	probably damaging	Het
Tmem14a	T	A	1: 21,299,636 (GRCm39)	Y89N	possibly damaging	Het
Tpp2	A	G	1: 44,029,690 (GRCm39)	Y991C	probably damaging	Het
Ttc7	A	G	17: 87,666,579 (GRCm39)	K615E	possibly damaging	Het
Ubac2	C	T	14: 122,231,754 (GRCm39)	P227S	probably damaging	Het
Vit	A	C	17: 78,932,588 (GRCm39)	K565T	probably damaging	Het
Vps13c	T	C	9: 67,853,133 (GRCm39)	F2409L	possibly damaging	Het
Wdr64	A	G	1: 175,553,958 (GRCm39)	T173A	probably damaging	Het
Zfp759	T	C	13: 67,285,419 (GRCm39)	I60T	probably benign	Het
Zfp81	A	G	17: 33,553,351 (GRCm39)	S488P	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CATGCCTCAGCCTACAGAGGAAAG -3'
(R):5'- GCAGCCAGTGCCTAAGAAATAGCC -3'

Sequencing Primer
(F):5'- GGTCCTATAAAGTCCCATTTTCAG -3'
(R):5'- GTGCCTAAGAAATAGCCAACAG -3'

Posted On

2013-06-12