Mutagenetix > Incidental Mutations

Incidental Mutation 'R4119:Ip6k2'

315234

Institutional Source

Beutler Lab

Gene Symbol

Ip6k2

Ensembl Gene

ENSMUSG00000032599

Gene Name

inositol hexaphosphate kinase 2

Synonyms

Ihpk2, 1500005N04Rik

MMRRC Submission

040992-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108783796-108806337 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108805648 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 319 (R319Q)

Ref Sequence

ENSEMBL: ENSMUSP00000082091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035218] [ENSMUST00000085018] [ENSMUST00000193560] [ENSMUST00000194819] [ENSMUST00000195323]

Predicted Effect

probably benign
Transcript: ENSMUST00000035218

SMART Domains

Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598

Domain	Start	End	E-Value	Type
SH3	1	57	2.21e-9	SMART
low complexity region	162	179	N/A	INTRINSIC
low complexity region	200	215	N/A	INTRINSIC
low complexity region	230	240	N/A	INTRINSIC
low complexity region	249	271	N/A	INTRINSIC
low complexity region	288	298	N/A	INTRINSIC
Pfam:DUF2013	539	675	5e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085018
AA Change: R319Q

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000082091
Gene: ENSMUSG00000032599
AA Change: R319Q

Domain	Start	End	E-Value	Type
Pfam:IPK	225	440	2.7e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193560
AA Change: R273Q

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141605
Gene: ENSMUSG00000032599
AA Change: R273Q

Domain	Start	End	E-Value	Type
Pfam:IPK	179	394	1.6e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194819

SMART Domains

Protein: ENSMUSP00000141702
Gene: ENSMUSG00000032598

Domain	Start	End	E-Value	Type
SH3	1	52	3.3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195323

SMART Domains

Protein: ENSMUSP00000141728
Gene: ENSMUSG00000032598

Domain	Start	End	E-Value	Type
SH3	1	57	1.4e-11	SMART

Meta Mutation Damage Score

0.0919

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (46/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele are resistant to radiation-induced mortality and show increased double-strand DNA break repair and incidence of induced aerodigestive tract carcinomas. Homozygotes for another null allele show increased B cell viability after radiation or neocarzinostatin treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,356,904	L39P	probably damaging	Het
Abcc1	A	G	16: 14,394,013	M138V	probably benign	Het
Abl1	T	A	2: 31,801,727	I1067N	probably damaging	Het
Adam6a	C	T	12: 113,544,574	T189I	probably benign	Het
Ankfy1	G	A	11: 72,714,484		probably null	Het
Aplnr	T	C	2: 85,136,966	Y112H	possibly damaging	Het
Arhgap17	A	G	7: 123,306,994	F313S	probably damaging	Het
Arid1b	T	C	17: 4,995,794		probably benign	Het
Bcas1	G	C	2: 170,378,815	P394A	probably benign	Het
Ccdc116	A	G	16: 17,142,187	S213P	probably damaging	Het
Cdh15	T	C	8: 122,863,423	V365A	probably damaging	Het
Cenpf	A	G	1: 189,653,045	I2346T	probably benign	Het
Chd7	A	G	4: 8,785,658		probably benign	Het
Ezh2	A	C	6: 47,544,548	N390K	probably benign	Het
Fbxo7	C	A	10: 86,021,895		probably benign	Het
Fibin	A	G	2: 110,362,690	Y36H	probably damaging	Het
Gm597	A	T	1: 28,777,973	V326D	probably damaging	Het
Gpr37	C	T	6: 25,688,426	R224H	possibly damaging	Het
Hars2	A	T	18: 36,790,488	N363I	probably damaging	Het
Itpr1	G	A	6: 108,394,355	D1140N	probably benign	Het
Lrig2	A	G	3: 104,467,195	V190A	probably benign	Het
Ltk	T	A	2: 119,757,948		probably benign	Het
Morc2a	C	A	11: 3,683,868	T660N	probably benign	Het
Msh3	A	G	13: 92,354,011		probably benign	Het
Myo15b	T	C	11: 115,873,492	S1311P	probably benign	Het
Nbeal1	A	T	1: 60,291,870	I2213L	probably damaging	Het
Olfr1122	T	A	2: 87,387,843	M46K	possibly damaging	Het
Olfr1155	A	G	2: 87,943,443	Y62H	probably damaging	Het
P2ry12	T	C	3: 59,217,841	T138A	probably benign	Het
Pirb	T	C	7: 3,717,575	D308G	probably damaging	Het
Pkn3	A	G	2: 30,083,037		probably benign	Het
Ripor1	T	A	8: 105,618,857		probably benign	Het
Ryr2	T	C	13: 11,779,267	T942A	probably benign	Het
Sptbn5	T	A	2: 120,064,529	D798V	possibly damaging	Het
Synpo2	T	A	3: 123,117,150	D282V	probably damaging	Het
Tnik	T	C	3: 28,666,175	F1287L	probably damaging	Het
Tshz1	T	G	18: 84,014,189	K698T	probably benign	Het
Ttc23l	A	C	15: 10,539,920	V159G	probably damaging	Het
Urb2	T	A	8: 124,047,240	D1503E	probably benign	Het
Usp29	T	A	7: 6,962,806	N549K	probably benign	Het
Vmn2r39	G	A	7: 9,023,674	H443Y	probably benign	Het
Zfp24	A	G	18: 24,014,569	Y229H	possibly damaging	Het
Zfp472	T	A	17: 32,978,215	Y421*	probably null	Het
Zkscan3	T	C	13: 21,393,949	E256G	possibly damaging	Het

Other mutations in Ip6k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Ip6k2	APN	9	108805744	missense	probably damaging	1.00
IGL01585:Ip6k2	APN	9	108796313	missense	probably damaging	1.00
IGL02377:Ip6k2	APN	9	108804599	missense	probably damaging	1.00
IGL02831:Ip6k2	APN	9	108804534	unclassified	probably benign
banting	UTSW	9	108805648	missense	probably benign	0.07
R0310:Ip6k2	UTSW	9	108799233	splice site	probably benign
R0541:Ip6k2	UTSW	9	108804627	missense	probably damaging	1.00
R2378:Ip6k2	UTSW	9	108796301	splice site	probably null
R4120:Ip6k2	UTSW	9	108805648	missense	probably benign	0.07
R4165:Ip6k2	UTSW	9	108805648	missense	probably benign	0.07
R4231:Ip6k2	UTSW	9	108805648	missense	probably benign	0.07
R4232:Ip6k2	UTSW	9	108805648	missense	probably benign	0.07
R4235:Ip6k2	UTSW	9	108805648	missense	probably benign	0.07
R4236:Ip6k2	UTSW	9	108805648	missense	probably benign	0.07
R4327:Ip6k2	UTSW	9	108805648	missense	probably benign	0.07
R4328:Ip6k2	UTSW	9	108805648	missense	probably benign	0.07
R5019:Ip6k2	UTSW	9	108797746	intron	probably benign
R5466:Ip6k2	UTSW	9	108798462	missense	probably damaging	1.00
R6017:Ip6k2	UTSW	9	108797267	missense	probably benign	0.01
R6688:Ip6k2	UTSW	9	108806011	missense	probably benign	0.00
R6971:Ip6k2	UTSW	9	108797311	intron	probably benign
R7150:Ip6k2	UTSW	9	108796731	missense	unknown
R8007:Ip6k2	UTSW	9	108805756	missense	probably benign	0.15
R8826:Ip6k2	UTSW	9	108798180	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGGGACCTACTCAACAGCC -3'
(R):5'- AGACTCATCAGCCGACTCTTC -3'

Sequencing Primer
(F):5'- ATCGCCTGTGTTCACCCAATG -3'
(R):5'- GATGACCAGTAGGGAACT -3'

Posted On

2015-05-14