Incidental Mutation 'R4232:Ip6k2'
| ID |
320915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ip6k2
|
| Ensembl Gene |
ENSMUSG00000032599 |
| Gene Name |
inositol hexaphosphate kinase 2 |
| Synonyms |
Ihpk2, 1500005N04Rik |
| MMRRC Submission |
041051-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4232 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108660995-108683536 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108682847 bp (GRCm39)
|
| 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]
|
| 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: 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
92% (58/63) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| Aven |
A |
G |
2: 112,458,113 (GRCm39) |
D167G |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,321,088 (GRCm39) |
F575L |
probably benign |
Het |
| Cflar |
A |
T |
1: 58,780,152 (GRCm39) |
Q249L |
possibly damaging |
Het |
| Col7a1 |
G |
A |
9: 108,801,881 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,327,193 (GRCm39) |
D944G |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,026,873 (GRCm39) |
N717S |
probably benign |
Het |
| Dnaja3 |
T |
A |
16: 4,517,735 (GRCm39) |
N322K |
possibly damaging |
Het |
| Dnajb3 |
A |
G |
1: 88,132,974 (GRCm39) |
S143P |
possibly damaging |
Het |
| Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
| Dvl3 |
A |
G |
16: 20,342,983 (GRCm39) |
|
probably benign |
Het |
| Fkbp7 |
A |
T |
2: 76,493,661 (GRCm39) |
D177E |
possibly damaging |
Het |
| Galnt7 |
T |
C |
8: 58,106,000 (GRCm39) |
I5V |
probably benign |
Het |
| Garin3 |
C |
A |
11: 46,298,232 (GRCm39) |
T512K |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,871,695 (GRCm39) |
L2639Q |
probably damaging |
Het |
| Hnrnpr |
T |
C |
4: 136,066,500 (GRCm39) |
M394T |
probably benign |
Het |
| Kif14 |
T |
A |
1: 136,444,101 (GRCm39) |
C1364* |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,326,185 (GRCm39) |
E5104G |
probably damaging |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Mrtfa |
T |
A |
15: 80,907,796 (GRCm39) |
K29M |
probably damaging |
Het |
| Mtbp |
CATGA |
CATGAATGA |
15: 55,484,073 (GRCm39) |
|
probably null |
Het |
| Nfkb1 |
A |
G |
3: 135,309,531 (GRCm39) |
V521A |
probably damaging |
Het |
| Or2b7 |
T |
C |
13: 21,739,631 (GRCm39) |
D187G |
probably damaging |
Het |
| Or7g32 |
G |
T |
9: 19,389,022 (GRCm39) |
L175M |
probably damaging |
Het |
| P2rx6 |
T |
C |
16: 17,388,631 (GRCm39) |
L335P |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,001 (GRCm39) |
D483G |
possibly damaging |
Het |
| Pgpep1l |
T |
C |
7: 67,886,827 (GRCm39) |
T161A |
probably benign |
Het |
| Prss40 |
A |
G |
1: 34,599,873 (GRCm39) |
V38A |
probably benign |
Het |
| Ptk2 |
C |
A |
15: 73,181,698 (GRCm39) |
R104L |
possibly damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rtp4 |
A |
G |
16: 23,431,833 (GRCm39) |
N122D |
possibly damaging |
Het |
| Samd8 |
A |
G |
14: 21,830,213 (GRCm39) |
Y213C |
probably benign |
Het |
| Shcbp1 |
T |
A |
8: 4,786,372 (GRCm39) |
T577S |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,050,156 (GRCm39) |
V153A |
probably damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,476,936 (GRCm39) |
D775E |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,713,785 (GRCm39) |
S738P |
possibly damaging |
Het |
| Tsc22d4 |
T |
C |
5: 137,749,632 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
A |
T |
9: 119,771,684 (GRCm39) |
H161L |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 103,791,010 (GRCm39) |
E360V |
probably benign |
Het |
| Ugt1a10 |
C |
A |
1: 87,983,932 (GRCm39) |
D243E |
probably benign |
Het |
| Vmn2r19 |
G |
A |
6: 123,306,871 (GRCm39) |
V460I |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,487,011 (GRCm39) |
Y628F |
possibly damaging |
Het |
| Wnk1 |
A |
T |
6: 119,926,222 (GRCm39) |
S1588T |
possibly damaging |
Het |
| Wscd2 |
A |
G |
5: 113,699,045 (GRCm39) |
D200G |
probably benign |
Het |
| Zfp831 |
G |
C |
2: 174,547,447 (GRCm39) |
W1543C |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGGACCTACTCAACAGCC -3'
(R):5'- AGACTCATCAGCCGACTCTTCG -3'
Sequencing Primer
(F):5'- ATCGCCTGTGTTCACCCAATG -3'
(R):5'- CAAGTCCTCAGCATCTGA -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation