Incidental Mutation 'R4165:Ip6k2'
| ID |
321699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ip6k2
|
| Ensembl Gene |
ENSMUSG00000032599 |
| Gene Name |
inositol hexaphosphate kinase 2 |
| Synonyms |
Ihpk2, 1500005N04Rik |
| MMRRC Submission |
041007-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4165 (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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
97% (38/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,827,044 (GRCm39) |
F4I |
probably damaging |
Het |
| Adamts8 |
G |
T |
9: 30,862,684 (GRCm39) |
E296D |
probably benign |
Het |
| Alg11 |
T |
C |
8: 22,555,573 (GRCm39) |
V278A |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Avil |
C |
T |
10: 126,842,496 (GRCm39) |
Q92* |
probably null |
Het |
| Cfap300 |
A |
T |
9: 8,026,071 (GRCm39) |
L167Q |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,864,522 (GRCm39) |
S36T |
possibly damaging |
Het |
| Epb41l3 |
T |
C |
17: 69,514,883 (GRCm39) |
S7P |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,195,608 (GRCm39) |
T434A |
probably damaging |
Het |
| Gm5174 |
A |
G |
10: 86,492,797 (GRCm39) |
|
noncoding transcript |
Het |
| Gpaa1 |
A |
C |
15: 76,216,667 (GRCm39) |
|
probably benign |
Het |
| Grina |
T |
A |
15: 76,133,529 (GRCm39) |
L334Q |
probably damaging |
Het |
| Gvin-ps5 |
T |
A |
7: 105,929,895 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv15-103 |
G |
T |
6: 68,414,824 (GRCm39) |
G88* |
probably null |
Het |
| Kdm3b |
A |
T |
18: 34,928,797 (GRCm39) |
I183F |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,432,066 (GRCm39) |
|
probably null |
Het |
| Larp7 |
A |
G |
3: 127,330,611 (GRCm39) |
Y569H |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,460,025 (GRCm39) |
I758F |
probably damaging |
Het |
| Nr1d2 |
T |
C |
14: 18,215,446 (GRCm38) |
I189V |
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,217,008 (GRCm39) |
I668K |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,632,243 (GRCm39) |
N679K |
probably benign |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Prap1 |
T |
A |
7: 139,676,091 (GRCm39) |
V35E |
probably benign |
Het |
| Prdm1 |
T |
A |
10: 44,317,572 (GRCm39) |
Y417F |
probably benign |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rps3 |
T |
C |
7: 99,132,816 (GRCm39) |
I5V |
probably benign |
Het |
| Sema3a |
A |
T |
5: 13,523,364 (GRCm39) |
|
probably null |
Het |
| Serpina3g |
A |
T |
12: 104,206,546 (GRCm39) |
T116S |
probably benign |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slc22a28 |
A |
G |
19: 8,040,773 (GRCm39) |
S493P |
possibly damaging |
Het |
| Snapc1 |
G |
T |
12: 74,029,354 (GRCm39) |
|
probably null |
Het |
| Sobp |
C |
T |
10: 42,897,644 (GRCm39) |
G647D |
probably damaging |
Het |
| Tomm22 |
C |
A |
15: 79,555,206 (GRCm39) |
|
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,978,003 (GRCm39) |
|
probably benign |
Het |
| Txnl4a |
T |
A |
18: 80,265,471 (GRCm39) |
M112K |
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,427 (GRCm39) |
F61L |
possibly damaging |
Het |
| Zfp709 |
C |
T |
8: 72,644,649 (GRCm39) |
Q693* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGACTTGAGTACAGTGACTG -3'
(R):5'- CTCCAAGTCCTCAGCATCTG -3'
Sequencing Primer
(F):5'- TGAACCTAGGTGATGGGACCTACTC -3'
(R):5'- ATCTGAGTCCAGGGTCACTTCTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation