Mutagenetix > Incidental Mutation

Incidental Mutation 'R0206:Inpp5k'

35477

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

038459-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0206 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

75521814-75539697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75521969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 15 (I15T)

Ref Sequence

ENSEMBL: ENSMUSP00000006286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006286] [ENSMUST00000102509] [ENSMUST00000143219] [ENSMUST00000150857] [ENSMUST00000179445] [ENSMUST00000179521]

AlphaFold

Q8C5L6

Predicted Effect

probably benign
Transcript: ENSMUST00000006286
AA Change: I15T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006286
Gene: ENSMUSG00000006127
AA Change: I15T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102509

SMART Domains

Protein: ENSMUSP00000099567
Gene: ENSMUSG00000017781

Domain	Start	End	E-Value	Type
Pfam:IP_trans	2	99	1e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136605

Predicted Effect

probably benign
Transcript: ENSMUST00000143219

SMART Domains

Protein: ENSMUSP00000115723
Gene: ENSMUSG00000017781

Domain	Start	End	E-Value	Type
Pfam:IP_trans	2	255	4.7e-147	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000150857
AA Change: I15T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153768

Predicted Effect

probably benign
Transcript: ENSMUST00000179445

SMART Domains

Protein: ENSMUSP00000137601
Gene: ENSMUSG00000017781

Domain	Start	End	E-Value	Type
Pfam:IP_trans	2	255	6.7e-146	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179521

SMART Domains

Protein: ENSMUSP00000137510
Gene: ENSMUSG00000017781

Domain	Start	End	E-Value	Type
Pfam:IP_trans	2	254	3.2e-123	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.2%
3x: 97.1%
10x: 94.6%
20x: 89.0%

Validation Efficiency

99% (83/84)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,470,486 (GRCm39)	T165I	probably benign	Het
Aadacl2fm1	C	T	3: 59,840,110 (GRCm39)	R61C	probably damaging	Het
Acsl5	A	G	19: 55,269,001 (GRCm39)	K221E	probably benign	Het
Adam26a	A	C	8: 44,023,455 (GRCm39)	F12V	possibly damaging	Het
Adgrb2	T	C	4: 129,886,352 (GRCm39)	L164P	probably damaging	Het
Aldh1l1	T	C	6: 90,546,848 (GRCm39)	F384L	possibly damaging	Het
Arhgef5	A	G	6: 43,250,275 (GRCm39)	E342G	probably damaging	Het
Btbd8	A	G	5: 107,652,906 (GRCm39)	T304A	probably benign	Het
Cacna1b	A	G	2: 24,497,492 (GRCm39)	S2140P	probably damaging	Het
Camsap2	G	C	1: 136,208,738 (GRCm39)	P918R	probably damaging	Het
Cdca3	C	T	6: 124,809,514 (GRCm39)		probably benign	Het
Cenpj	G	T	14: 56,801,427 (GRCm39)	A182E	probably benign	Het
Cit	A	T	5: 116,132,089 (GRCm39)	N1782Y	possibly damaging	Het
Cmya5	A	G	13: 93,232,065 (GRCm39)	S1008P	probably damaging	Het
Csgalnact2	T	G	6: 118,091,347 (GRCm39)	Q197P	probably benign	Het
D630045J12Rik	A	G	6: 38,116,385 (GRCm39)	M1745T	probably damaging	Het
Ddt	A	G	10: 75,608,719 (GRCm39)	M1T	probably null	Het
Dnah11	A	C	12: 118,007,509 (GRCm39)	N2156K	probably damaging	Het
Dock3	G	T	9: 106,874,195 (GRCm39)	Y425*	probably null	Het
Eng	A	T	2: 32,569,005 (GRCm39)	T511S	probably benign	Het
Gabra6	C	T	11: 42,207,906 (GRCm39)	W188*	probably null	Het
Gnptab	A	T	10: 88,275,372 (GRCm39)	H1111L	probably damaging	Het
H2-M10.4	A	G	17: 36,771,375 (GRCm39)	W268R	probably damaging	Het
Hrct1	C	A	4: 43,727,384 (GRCm39)	T8K	possibly damaging	Het
Il2ra	T	C	2: 11,686,828 (GRCm39)		probably benign	Het
Inhca	A	G	9: 103,159,861 (GRCm39)	C5R	probably damaging	Het
Ipcef1	A	G	10: 6,870,062 (GRCm39)	S113P	probably damaging	Het
Kctd8	A	T	5: 69,498,508 (GRCm39)	V46E	probably damaging	Het
Klk1b9	T	A	7: 43,628,854 (GRCm39)	N119K	possibly damaging	Het
Krtap9-3	C	A	11: 99,488,663 (GRCm39)	C73F	probably damaging	Het
Loxhd1	T	A	18: 77,492,562 (GRCm39)	F1334L	possibly damaging	Het
Me3	A	T	7: 89,498,868 (GRCm39)	T483S	probably benign	Het
Med1	A	G	11: 98,046,515 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,191,682 (GRCm39)		probably benign	Het
Mvk	C	T	5: 114,597,035 (GRCm39)	T334M	probably damaging	Het
Mxra8	T	A	4: 155,927,053 (GRCm39)	I329N	probably damaging	Het
Mybphl	T	C	3: 108,282,731 (GRCm39)	V207A	probably damaging	Het
Myom1	T	C	17: 71,344,292 (GRCm39)	S266P	probably damaging	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Or1d2	A	T	11: 74,255,968 (GRCm39)	I158F	probably benign	Het
Or2ag12	A	G	7: 106,276,781 (GRCm39)	V304A	probably benign	Het
Or52b1	A	T	7: 104,979,090 (GRCm39)	M103K	possibly damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5m3	T	C	2: 85,838,636 (GRCm39)	I172T	probably damaging	Het
Or6f1	T	C	7: 85,970,854 (GRCm39)	Y102C	probably benign	Het
Pcdhb18	T	C	18: 37,623,240 (GRCm39)	I190T	possibly damaging	Het
Pgbd1	A	C	13: 21,618,651 (GRCm39)	L2R	probably damaging	Het
Pkp4	A	G	2: 59,096,780 (GRCm39)	I61V	probably damaging	Het
Pold4	T	G	19: 4,282,593 (GRCm39)	Y58*	probably null	Het
Pomgnt1	T	C	4: 116,015,757 (GRCm39)		probably null	Het
Prex2	T	A	1: 11,355,368 (GRCm39)	D1556E	probably damaging	Het
Psmd1	T	C	1: 86,061,463 (GRCm39)	V891A	possibly damaging	Het
Psme3ip1	A	G	8: 95,314,639 (GRCm39)	F73S	probably damaging	Het
Rlig1	T	A	10: 100,422,056 (GRCm39)	K69*	probably null	Het
Rmdn2	T	A	17: 79,957,716 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,691,137 (GRCm39)		probably benign	Het
Scgb2b27	C	A	7: 33,711,562 (GRCm39)	E96*	probably null	Het
Sec16b	G	T	1: 157,380,505 (GRCm39)	G359*	probably null	Het
Slc1a3	A	G	15: 8,738,040 (GRCm39)		probably benign	Het
Slc28a1	A	T	7: 80,767,454 (GRCm39)		probably benign	Het
Slc35d1	T	C	4: 103,065,351 (GRCm39)	T177A	probably damaging	Het
Snx33	G	A	9: 56,833,508 (GRCm39)	S187L	probably damaging	Het
Spg11	C	T	2: 121,886,177 (GRCm39)		probably null	Het
Spint1	T	C	2: 119,078,826 (GRCm39)		probably benign	Het
Spta1	A	G	1: 174,020,526 (GRCm39)	H545R	probably damaging	Het
Tinag	A	G	9: 76,907,134 (GRCm39)	I367T	probably damaging	Het
Tln1	C	T	4: 43,549,151 (GRCm39)	V644M	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ube4b	T	C	4: 149,483,094 (GRCm39)	H58R	probably benign	Het
Ush2a	A	C	1: 188,263,958 (GRCm39)	I1612L	probably damaging	Het
Usp28	A	G	9: 48,939,569 (GRCm39)	Y275C	probably damaging	Het
Vmn2r6	T	C	3: 64,447,333 (GRCm39)	T578A	probably benign	Het
Vps13c	A	G	9: 67,846,444 (GRCm39)		probably benign	Het
Vwf	T	C	6: 125,614,419 (GRCm39)	F1100S	probably damaging	Het
Zfp318	G	T	17: 46,709,945 (GRCm39)	R556L	probably benign	Het
Zkscan1	T	A	5: 138,099,448 (GRCm39)	C391S	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
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

Predicted Primers

PCR Primer
(F):5'- TGGAAGTGTTCTCTGACCCCTATGAG -3'
(R):5'- TAGGGCAGCCTTGATCCTACTGTG -3'

Sequencing Primer
(F):5'- ATGACATGTAGAGCCCGC -3'
(R):5'- CCTTGATCCTACTGTGGTTTTG -3'

Posted On

2013-05-09