Mutagenetix > Incidental Mutation

Incidental Mutation 'R8007:Ip6k2'

616692

Institutional Source

Beutler Lab

Gene Symbol

Ip6k2

Ensembl Gene

ENSMUSG00000032599

Gene Name

inositol hexaphosphate kinase 2

Synonyms

Ihpk2, 1500005N04Rik

MMRRC Submission

046047-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108660995-108683536 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108682955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 355 (V355A)

Ref Sequence

ENSEMBL: ENSMUSP00000082091 (fasta)

Gene Model

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

AlphaFold

Q80V72

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: V355A

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000082091
Gene: ENSMUSG00000032599
AA Change: V355A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000193560
AA Change: V309A

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000141605
Gene: ENSMUSG00000032599
AA Change: V309A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,647,845 (GRCm39)		probably benign	Het
A430033K04Rik	T	C	5: 138,644,901 (GRCm39)	I262T	probably benign	Het
Acacb	A	G	5: 114,356,935 (GRCm39)	R1289G	probably damaging	Het
Adgre4	A	T	17: 56,121,233 (GRCm39)	H433L	probably damaging	Het
Adgrv1	A	G	13: 81,431,585 (GRCm39)	F5948L	probably benign	Het
Adtrp	A	T	13: 41,969,707 (GRCm39)	D97E	probably damaging	Het
Anapc5	T	C	5: 122,929,963 (GRCm39)	T543A	probably benign	Het
Ank2	G	C	3: 126,730,096 (GRCm39)		probably benign	Het
Cacna2d4	C	T	6: 119,289,405 (GRCm39)	A813V	probably benign	Het
Cc2d2a	T	A	5: 43,863,442 (GRCm39)	Y684N	possibly damaging	Het
Cenpf	G	A	1: 189,379,144 (GRCm39)	P35L		Het
Chtf18	A	G	17: 25,944,508 (GRCm39)	F281L	probably damaging	Het
Clstn1	T	C	4: 149,716,305 (GRCm39)	V257A	probably damaging	Het
Cnmd	A	T	14: 79,875,406 (GRCm39)	V338E	probably damaging	Het
Col6a3	A	C	1: 90,705,179 (GRCm39)	F2848V	unknown	Het
Corin	T	C	5: 72,473,446 (GRCm39)	S888G	probably damaging	Het
Ctss	A	T	3: 95,457,465 (GRCm39)	S309C	probably null	Het
Dmxl2	G	A	9: 54,290,975 (GRCm39)	Q2492*	probably null	Het
Exoc7	C	T	11: 116,197,465 (GRCm39)	R12Q	possibly damaging	Het
F12	A	G	13: 55,566,265 (GRCm39)	I509T	probably damaging	Het
F13b	A	G	1: 139,434,680 (GRCm39)	K149E	probably benign	Het
Fasn	A	G	11: 120,700,353 (GRCm39)	I2159T	probably benign	Het
Fgfr2	A	T	7: 129,765,719 (GRCm39)	Y831*	probably null	Het
Foxp1	A	T	6: 98,918,595 (GRCm39)	S514R	unknown	Het
Gm11569	A	G	11: 99,689,688 (GRCm39)	S4P	unknown	Het
Gria4	T	C	9: 4,503,740 (GRCm39)		probably benign	Het
Hnrnpul2	T	A	19: 8,798,179 (GRCm39)		probably null	Het
Ibtk	A	T	9: 85,572,770 (GRCm39)	D1257E	probably benign	Het
Kcnd2	G	A	6: 21,217,073 (GRCm39)	R259H	probably damaging	Het
Kcnj2	A	C	11: 110,963,884 (GRCm39)	E425D	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lgi2	C	A	5: 52,723,375 (GRCm39)	A25S	probably benign	Het
Lrp2	T	C	2: 69,336,849 (GRCm39)	T1308A	probably benign	Het
Ly6g2	A	G	15: 75,088,552 (GRCm39)	T7A	probably benign	Het
Matn2	A	T	15: 34,426,315 (GRCm39)	N609I	probably benign	Het
Mocs2	T	A	13: 114,957,409 (GRCm39)	S9T	possibly damaging	Het
Nebl	T	A	2: 17,375,300 (GRCm39)	I102F		Het
Nudt19	A	G	7: 35,255,045 (GRCm39)	V62A	probably benign	Het
Or10u4	T	A	10: 129,801,744 (GRCm39)	D269V	possibly damaging	Het
Or12k8	T	A	2: 36,974,855 (GRCm39)	R302W	probably damaging	Het
Or4a68	C	T	2: 89,270,684 (GRCm39)			Het
Or4k42	A	T	2: 111,320,068 (GRCm39)	V145E	probably damaging	Het
Pacrg	A	G	17: 11,058,919 (GRCm39)		probably benign	Het
Pappa2	A	G	1: 158,609,874 (GRCm39)	I1529T	probably damaging	Het
Pcdhga7	A	T	18: 37,849,946 (GRCm39)	H651L	probably benign	Het
Plch2	A	G	4: 155,087,288 (GRCm39)	L321P	probably damaging	Het
Ppargc1b	A	T	18: 61,443,565 (GRCm39)	S549T	possibly damaging	Het
Rtel1	T	A	2: 180,976,767 (GRCm39)	N254K	probably damaging	Het
Rtl1	T	C	12: 109,558,060 (GRCm39)	N1260D	possibly damaging	Het
Samd7	T	A	3: 30,812,531 (GRCm39)	W324R	probably damaging	Het
Serpinb9e	A	G	13: 33,435,605 (GRCm39)	I13V	probably benign	Het
Skint10	A	G	4: 112,568,865 (GRCm39)	L284S	possibly damaging	Het
Slc25a38	T	A	9: 119,951,208 (GRCm39)	I247K	possibly damaging	Het
Smarce1	G	C	11: 99,115,876 (GRCm39)	N48K	possibly damaging	Het
Stmn4	T	G	14: 66,593,032 (GRCm39)		probably benign	Het
Stt3a	G	C	9: 36,653,065 (GRCm39)	T539R	probably damaging	Het
Tab1	G	A	15: 80,042,969 (GRCm39)	V388I	possibly damaging	Het
Tcf12	G	C	9: 71,841,905 (GRCm39)		probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Trp53inp1	T	C	4: 11,164,525 (GRCm39)	F23S	probably damaging	Het
Vmn2r14	A	T	5: 109,368,324 (GRCm39)	L223M	probably benign	Het
Yae1d1	G	A	13: 18,164,329 (GRCm39)	S96L	probably damaging	Het
Zfp142	T	C	1: 74,610,655 (GRCm39)	I1047V	probably benign	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
IGL01585:Ip6k2	APN	9	108,673,512 (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
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

Predicted Primers

PCR Primer
(F):5'- TGAACAAGTACCATGGGCGG -3'
(R):5'- TGCAGCCCAAAGATATAGCC -3'

Sequencing Primer
(F):5'- CGGAAGCTTTCGGTGCAG -3'
(R):5'- TCGCCATACAGCCTGCAG -3'

Posted On

2020-01-23