Mutagenetix > Incidental Mutation

Incidental Mutation 'R6337:Inpp5k'

513764

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

044491-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75521814-75539697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75537640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 350 (I350N)

Ref Sequence

ENSEMBL: ENSMUSP00000006286 (fasta)

Gene Model

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

AlphaFold

Q8C5L6

Predicted Effect

probably damaging
Transcript: ENSMUST00000006286
AA Change: I350N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006286
Gene: ENSMUSG00000006127
AA Change: I350N

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

Meta Mutation Damage Score

0.7047

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (61/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	G	3: 89,969,040 (GRCm39)	V221G	probably benign	Het
Abca12	G	A	1: 71,334,172 (GRCm39)	A1110V	probably damaging	Het
Acsl6	C	A	11: 54,231,368 (GRCm39)	P462T	probably damaging	Het
Acsm5	G	A	7: 119,133,458 (GRCm39)	A208T	probably benign	Het
Adcyap1	T	A	17: 93,509,709 (GRCm39)	Y53*	probably null	Het
Adgrg7	T	A	16: 56,572,788 (GRCm39)	I343F	probably damaging	Het
Agl	T	A	3: 116,580,426 (GRCm39)	K376M	possibly damaging	Het
Akna	A	G	4: 63,292,240 (GRCm39)	Y1142H	probably benign	Het
Anks1b	A	T	10: 90,757,158 (GRCm39)	T182S	probably benign	Het
Apol7e	T	A	15: 77,598,582 (GRCm39)	Y16N	possibly damaging	Het
Bptf	G	T	11: 106,949,605 (GRCm39)	T2238K	possibly damaging	Het
Ccdc87	A	G	19: 4,889,829 (GRCm39)	E107G	probably benign	Het
Ccng2	C	T	5: 93,418,780 (GRCm39)	A135V	probably benign	Het
Chd8	C	A	14: 52,441,566 (GRCm39)	R842L	probably damaging	Het
Cldn18	T	A	9: 99,591,995 (GRCm39)	T3S	probably benign	Het
Dhcr7	T	C	7: 143,390,468 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dusp26	T	C	8: 31,586,325 (GRCm39)	V182A	probably damaging	Het
Eif3e	T	C	15: 43,115,692 (GRCm39)	D358G	possibly damaging	Het
Epha3	A	T	16: 63,388,806 (GRCm39)	L814H	probably damaging	Het
Flnc	A	G	6: 29,454,318 (GRCm39)	N1877S	probably damaging	Het
Fpgs	A	T	2: 32,577,953 (GRCm39)	Y156*	probably null	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm5591	T	C	7: 38,221,319 (GRCm39)	D250G	probably benign	Het
Gtf2e2	C	T	8: 34,266,043 (GRCm39)	R240*	probably null	Het
Hells	G	T	19: 38,943,254 (GRCm39)	Q519H	probably benign	Het
Hscb	A	G	5: 110,987,360 (GRCm39)		probably null	Het
Irf9	G	A	14: 55,843,799 (GRCm39)	V221I	possibly damaging	Het
Itga8	A	T	2: 12,258,280 (GRCm39)	Y261*	probably null	Het
Itprid2	G	A	2: 79,485,463 (GRCm39)	D506N	probably damaging	Het
Lama1	C	T	17: 68,093,014 (GRCm39)	T1684M	probably benign	Het
Lrp2	A	T	2: 69,268,811 (GRCm39)	H4157Q	probably damaging	Het
Nceh1	G	T	3: 27,276,956 (GRCm39)	R93L	probably damaging	Het
Nell2	A	G	15: 95,283,025 (GRCm39)	F339S	probably damaging	Het
Or2t49	A	T	11: 58,392,838 (GRCm39)	C181*	probably null	Het
Phf11a	C	A	14: 59,521,817 (GRCm39)	C118F	probably damaging	Het
Purg	A	G	8: 33,876,451 (GRCm39)	K30E	possibly damaging	Het
Qprt	C	T	7: 126,708,101 (GRCm39)	R110H	probably damaging	Het
Robo2	T	C	16: 73,725,039 (GRCm39)	T1055A	probably benign	Het
Serpina3a	T	C	12: 104,079,137 (GRCm39)	F10L	probably benign	Het
Sidt1	A	T	16: 44,121,298 (GRCm39)		probably null	Het
Slc4a4	T	A	5: 89,194,231 (GRCm39)	M237K	probably benign	Het
Slitrk5	A	T	14: 111,917,684 (GRCm39)	D436V	probably damaging	Het
Snd1	T	C	6: 28,888,288 (GRCm39)	Y908H	probably damaging	Het
Sorcs1	A	G	19: 50,132,562 (GRCm39)	V1132A	probably benign	Het
Speer3	A	G	5: 13,843,369 (GRCm39)	E92G	probably damaging	Het
Strada	T	C	11: 106,064,143 (GRCm39)	E58G	possibly damaging	Het
Tbx10	A	T	19: 4,047,312 (GRCm39)	K139*	probably null	Het
Tcf4	T	C	18: 69,766,651 (GRCm39)	Y25H	probably damaging	Het
Tmem108	C	T	9: 103,376,960 (GRCm39)	R163H	possibly damaging	Het
Top2b	A	G	14: 16,399,026 (GRCm38)	T549A	possibly damaging	Het
Tpcn2	A	G	7: 144,833,080 (GRCm39)	I46T	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vipr2	T	A	12: 116,086,363 (GRCm39)	Y129*	probably null	Het
Vps37a	A	T	8: 40,993,749 (GRCm39)	Q248L	probably benign	Het
Wrap53	T	C	11: 69,468,511 (GRCm39)	I179V	probably benign	Het
Zan	G	A	5: 137,450,750 (GRCm39)	A1609V	unknown	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb5	G	A	4: 44,993,459 (GRCm39)	R642W	probably damaging	Het
Zfyve27	A	G	19: 42,171,096 (GRCm39)		probably null	Het
Zup1	T	C	10: 33,825,252 (GRCm39)	N77D	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
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
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'- AGTTCTGGGCTCTGCTATTTAC -3'
(R):5'- TGCCCCAGTGATGGACAAAC -3'

Sequencing Primer
(F):5'- AGGACAAGCTGCCCCTTTC -3'
(R):5'- ACCAGGGGATAATGGACTCCC -3'

Posted On

2018-04-27