Incidental Mutation 'R2354:Nadk2'
| ID |
246843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nadk2
|
| Ensembl Gene |
ENSMUSG00000022253 |
| Gene Name |
NAD kinase 2, mitochondrial |
| Synonyms |
4933430B08Rik, 1110020G09Rik, MNADK, Nadkd1 |
| MMRRC Submission |
040336-MU
|
| Accession Numbers |
Genbank: NM_001040395; MGI: 1915896
|
| Is this an essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2354 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
9071260-9110891 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9085782 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 167
(I167N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067760]
[ENSMUST00000100789]
[ENSMUST00000100790]
|
| AlphaFold |
Q8C5H8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067760
AA Change: I167N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068318
Gene: ENSMUSG00000022253
AA Change: I167N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
Pfam:NAD_kinase
|
58 |
334 |
4.7e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100789
AA Change: I167N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098353
Gene: ENSMUSG00000022253
AA Change: I167N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
Pfam:NAD_kinase
|
58 |
171 |
8.2e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100790
AA Change: I167N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098354
Gene: ENSMUSG00000022253
AA Change: I167N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
Pfam:NAD_kinase
|
58 |
312 |
3.9e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190874
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228397
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
97% (34/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for knock-out allele exhibit increased serum lysine and carnitine levels, develop increased reactive oxygen species levels and hepatic steatosis on an atherogenic high-fat diet, and show impaired fasting-induced fatty acid oxidation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(10) : Gene trapped(10) |
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930444G20Rik |
G |
T |
10: 22,067,256 |
T275K |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,473,850 |
|
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,274,043 |
H196N |
probably damaging |
Het |
| Bpifb9b |
C |
T |
2: 154,311,742 |
L243F |
probably benign |
Het |
| Cd226 |
A |
T |
18: 89,246,983 |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 122,862,024 |
R279Q |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,334,784 |
I792T |
possibly damaging |
Het |
| Cfap46 |
T |
C |
7: 139,661,046 |
Y469C |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 121,054,258 |
R599G |
probably damaging |
Het |
| D630045J12Rik |
G |
A |
6: 38,158,091 |
P1385S |
possibly damaging |
Het |
| Ddb1 |
A |
T |
19: 10,606,973 |
M64L |
probably benign |
Het |
| Dyrk1b |
G |
A |
7: 28,185,372 |
R404Q |
possibly damaging |
Het |
| Gal3st2b |
A |
G |
1: 93,939,786 |
T52A |
probably damaging |
Het |
| Galk2 |
C |
A |
2: 125,931,273 |
S208R |
probably benign |
Het |
| Gm6169 |
G |
A |
13: 97,098,801 |
T146I |
probably damaging |
Het |
| Hap1 |
A |
T |
11: 100,354,715 |
I141N |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 17,041,105 |
S523G |
probably damaging |
Het |
| Kirrel |
C |
T |
3: 87,088,485 |
V381I |
probably damaging |
Het |
| Lmbrd1 |
T |
C |
1: 24,685,541 |
S69P |
probably damaging |
Het |
| Lrriq1 |
C |
T |
10: 103,189,987 |
V925M |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,001 |
Y459C |
probably damaging |
Het |
| Mtr |
A |
G |
13: 12,188,157 |
|
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,985,634 |
F242L |
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,122,919 |
V1010E |
probably damaging |
Het |
| Shox2 |
A |
G |
3: 66,981,489 |
I23T |
possibly damaging |
Het |
| Slc5a12 |
T |
C |
2: 110,609,432 |
V141A |
probably damaging |
Het |
| Sstr5 |
A |
G |
17: 25,491,901 |
I118T |
probably benign |
Het |
| Taar4 |
A |
G |
10: 23,961,014 |
N174S |
probably damaging |
Het |
| Tpcn2 |
C |
A |
7: 145,257,218 |
G581W |
probably damaging |
Het |
| Umod |
C |
T |
7: 119,466,193 |
V538M |
probably damaging |
Het |
| Vmn2r44 |
T |
G |
7: 8,370,640 |
S517R |
probably damaging |
Het |
| Zc3h12d |
G |
T |
10: 7,867,938 |
V491L |
probably benign |
Het |
| Zfp358 |
A |
T |
8: 3,495,454 |
H12L |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,894,827 |
D287G |
probably benign |
Het |
|
| Other mutations in Nadk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01420:Nadk2
|
APN |
15 |
9102984 |
missense |
probably damaging |
1.00 |
|
tabak
|
UTSW |
15 |
9108254 |
missense |
probably damaging |
0.99 |
|
PIT4131001:Nadk2
|
UTSW |
15 |
9100143 |
frame shift |
probably null |
|
|
PIT4142001:Nadk2
|
UTSW |
15 |
9100143 |
frame shift |
probably null |
|
|
R0347:Nadk2
|
UTSW |
15 |
9084207 |
missense |
probably benign |
0.08 |
|
R0838:Nadk2
|
UTSW |
15 |
9091242 |
missense |
probably benign |
0.00 |
|
R0988:Nadk2
|
UTSW |
15 |
9102992 |
missense |
probably damaging |
0.99 |
|
R1014:Nadk2
|
UTSW |
15 |
9091254 |
missense |
probably damaging |
1.00 |
|
R1159:Nadk2
|
UTSW |
15 |
9106837 |
missense |
possibly damaging |
0.86 |
|
R1387:Nadk2
|
UTSW |
15 |
9106782 |
missense |
possibly damaging |
0.68 |
|
R1861:Nadk2
|
UTSW |
15 |
9108311 |
missense |
probably benign |
0.21 |
|
R1886:Nadk2
|
UTSW |
15 |
9103358 |
missense |
possibly damaging |
0.87 |
|
R3623:Nadk2
|
UTSW |
15 |
9084223 |
missense |
probably damaging |
1.00 |
|
R3624:Nadk2
|
UTSW |
15 |
9084223 |
missense |
probably damaging |
1.00 |
|
R4642:Nadk2
|
UTSW |
15 |
9092721 |
missense |
possibly damaging |
0.64 |
|
R4867:Nadk2
|
UTSW |
15 |
9098857 |
missense |
possibly damaging |
0.84 |
|
R5314:Nadk2
|
UTSW |
15 |
9108313 |
missense |
probably benign |
0.04 |
|
R7214:Nadk2
|
UTSW |
15 |
9108254 |
missense |
probably damaging |
0.99 |
|
R7244:Nadk2
|
UTSW |
15 |
9083191 |
splice site |
probably null |
|
|
R7310:Nadk2
|
UTSW |
15 |
9103381 |
critical splice donor site |
probably null |
|
|
R7634:Nadk2
|
UTSW |
15 |
9092846 |
missense |
probably benign |
0.41 |
|
R8310:Nadk2
|
UTSW |
15 |
9103332 |
missense |
probably benign |
|
|
R8424:Nadk2
|
UTSW |
15 |
9083334 |
missense |
possibly damaging |
0.92 |
|
R9265:Nadk2
|
UTSW |
15 |
9071694 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCAGCACAGTACAACAG -3'
(R):5'- ACAGAGCCTACGTCATGAGC -3'
Sequencing Primer
(F):5'- TCAGCACAGTACAACAGGCATAGG -3'
(R):5'- GAGCCTACGTCATGAGCACCAG -3'
|
| Posted On |
2014-10-30 |
