Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01585:Ip6k2'

93339

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ip6k2

Ensembl Gene

ENSMUSG00000032599

Gene Name

inositol hexaphosphate kinase 2

Synonyms

Ihpk2, 1500005N04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01585

Quality Score

Status

Chromosome

Chromosomal Location

108660995-108683536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108673512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 40 (L40Q)

Ref Sequence

ENSEMBL: ENSMUSP00000142239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085018] [ENSMUST00000192028] [ENSMUST00000192226] [ENSMUST00000192307] [ENSMUST00000193560] [ENSMUST00000194782] [ENSMUST00000194875] [ENSMUST00000195514]

AlphaFold

Q80V72

Predicted Effect

probably damaging
Transcript: ENSMUST00000085018
AA Change: L40Q

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000082091
Gene: ENSMUSG00000032599
AA Change: L40Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158001

Predicted Effect

probably damaging
Transcript: ENSMUST00000192028
AA Change: L40Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000192226
AA Change: L40Q

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000192307
AA Change: L40Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000193055

Predicted Effect

probably damaging
Transcript: ENSMUST00000193560
AA Change: L40Q

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141605
Gene: ENSMUSG00000032599
AA Change: L40Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000194782
AA Change: L40Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000194875
AA Change: L40Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142239
Gene: ENSMUSG00000032599
AA Change: L40Q

Domain	Start	End	E-Value	Type
low complexity region	72	80	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000195514
AA Change: L40Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193970

Coding Region Coverage

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 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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,359,045 (GRCm39)	D587G	probably benign	Het
Adcy1	T	A	11: 7,117,143 (GRCm39)	N1003K	probably damaging	Het
Alpk1	T	C	3: 127,473,462 (GRCm39)	D847G	probably benign	Het
Atp5f1a	T	C	18: 77,868,758 (GRCm39)	V417A	possibly damaging	Het
Avp	A	C	2: 130,422,629 (GRCm39)	S159A	probably benign	Het
Brca2	C	A	5: 150,462,981 (GRCm39)	A915D	possibly damaging	Het
Cdc42bpg	G	A	19: 6,370,462 (GRCm39)	R1185H	possibly damaging	Het
Cdcp3	T	G	7: 130,846,487 (GRCm39)	V637G	probably damaging	Het
Clrn2	A	G	5: 45,617,500 (GRCm39)	I124V	probably benign	Het
Cntn4	A	T	6: 106,595,289 (GRCm39)	K469*	probably null	Het
Cxcl1	T	A	5: 91,039,583 (GRCm39)	N70K	probably damaging	Het
Dbf4	A	G	5: 8,458,492 (GRCm39)		probably null	Het
Fbn1	A	T	2: 125,202,030 (GRCm39)	V1281E	probably damaging	Het
Fgfr3	A	T	5: 33,891,305 (GRCm39)	Q523L	probably damaging	Het
Golga5	A	G	12: 102,445,954 (GRCm39)	K403R	probably benign	Het
Gpr22	A	G	12: 31,759,336 (GRCm39)	I262T	probably benign	Het
Gstm3	G	T	3: 107,873,474 (GRCm39)	Q166K	probably benign	Het
Ilf2	T	A	3: 90,391,849 (GRCm39)	N183K	probably damaging	Het
Itga8	A	T	2: 12,165,123 (GRCm39)		probably benign	Het
Lbr	T	A	1: 181,653,208 (GRCm39)	R70*	probably null	Het
Lilra6	T	C	7: 3,917,498 (GRCm39)	T166A	probably benign	Het
Map3k4	T	C	17: 12,467,846 (GRCm39)	K1063E	probably damaging	Het
Msi1	T	C	5: 115,568,949 (GRCm39)		probably null	Het
Pam	A	G	1: 97,792,197 (GRCm39)	V408A	probably damaging	Het
Plxna1	A	G	6: 89,306,538 (GRCm39)		probably null	Het
Ppp1r36	A	T	12: 76,485,891 (GRCm39)		probably null	Het
Prrt4	A	G	6: 29,177,689 (GRCm39)	S27P	probably benign	Het
Psmg1	G	A	16: 95,789,221 (GRCm39)	T112I	possibly damaging	Het
Rfx7	T	G	9: 72,524,343 (GRCm39)	I511S	probably benign	Het
Ros1	G	A	10: 52,031,198 (GRCm39)	T481M	probably damaging	Het
Scfd1	A	G	12: 51,462,336 (GRCm39)	D397G	probably damaging	Het
Sel1l3	A	G	5: 53,311,578 (GRCm39)	Y636H	probably damaging	Het
Sgms1	T	G	19: 32,120,245 (GRCm39)	R220S	probably damaging	Het
Slc37a3	A	T	6: 39,314,196 (GRCm39)	I472N	probably damaging	Het
Syne2	A	G	12: 75,995,834 (GRCm39)		probably null	Het
Tert	T	C	13: 73,782,463 (GRCm39)	V579A	probably benign	Het
Ush2a	A	T	1: 188,162,924 (GRCm39)	H1002L	probably damaging	Het

Other mutations in Ip6k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Ip6k2	APN	9	108,682,943 (GRCm39)	missense	probably damaging	1.00
IGL02377:Ip6k2	APN	9	108,681,798 (GRCm39)	missense	probably damaging	1.00
IGL02831:Ip6k2	APN	9	108,681,733 (GRCm39)	unclassified	probably benign
banting	UTSW	9	108,682,847 (GRCm39)	missense	probably benign	0.07
R0310:Ip6k2	UTSW	9	108,676,432 (GRCm39)	splice site	probably benign
R0541:Ip6k2	UTSW	9	108,681,826 (GRCm39)	missense	probably damaging	1.00
R2378:Ip6k2	UTSW	9	108,673,500 (GRCm39)	splice site	probably null
R4119:Ip6k2	UTSW	9	108,682,847 (GRCm39)	missense	probably benign	0.07
R4120:Ip6k2	UTSW	9	108,682,847 (GRCm39)	missense	probably benign	0.07
R4165:Ip6k2	UTSW	9	108,682,847 (GRCm39)	missense	probably benign	0.07
R4231:Ip6k2	UTSW	9	108,682,847 (GRCm39)	missense	probably benign	0.07
R4232:Ip6k2	UTSW	9	108,682,847 (GRCm39)	missense	probably benign	0.07
R4235:Ip6k2	UTSW	9	108,682,847 (GRCm39)	missense	probably benign	0.07
R4236:Ip6k2	UTSW	9	108,682,847 (GRCm39)	missense	probably benign	0.07
R4327:Ip6k2	UTSW	9	108,682,847 (GRCm39)	missense	probably benign	0.07
R4328:Ip6k2	UTSW	9	108,682,847 (GRCm39)	missense	probably benign	0.07
R5019:Ip6k2	UTSW	9	108,674,945 (GRCm39)	intron	probably benign
R5466:Ip6k2	UTSW	9	108,675,661 (GRCm39)	missense	probably damaging	1.00
R6017:Ip6k2	UTSW	9	108,674,466 (GRCm39)	missense	probably benign	0.01
R6688:Ip6k2	UTSW	9	108,683,210 (GRCm39)	missense	probably benign	0.00
R6971:Ip6k2	UTSW	9	108,674,510 (GRCm39)	intron	probably benign
R7150:Ip6k2	UTSW	9	108,673,930 (GRCm39)	missense	unknown
R8007:Ip6k2	UTSW	9	108,682,955 (GRCm39)	missense	probably benign	0.15
R8826:Ip6k2	UTSW	9	108,675,379 (GRCm39)	critical splice donor site	probably null
R9039:Ip6k2	UTSW	9	108,681,807 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09