Incidental Mutation 'R1159:Nadk2'
ID |
101995 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nadk2
|
Ensembl Gene |
ENSMUSG00000022253 |
Gene Name |
NAD kinase 2, mitochondrial |
Synonyms |
1110020G09Rik, Nadkd1, MNADK, 4933430B08Rik |
MMRRC Submission |
039232-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1159 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
9071340-9110584 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 9106925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 351
(R351H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098353
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067760]
[ENSMUST00000100789]
[ENSMUST00000100790]
[ENSMUST00000188194]
|
AlphaFold |
Q8C5H8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067760
AA Change: R402H
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000068318 Gene: ENSMUSG00000022253 AA Change: R402H
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 |
possibly damaging
Transcript: ENSMUST00000100789
AA Change: R351H
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000098353 Gene: ENSMUSG00000022253 AA Change: R351H
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 |
possibly damaging
Transcript: ENSMUST00000100790
AA Change: R380H
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000098354 Gene: ENSMUSG00000022253 AA Change: R380H
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: ENSMUST00000186069
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188194
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189211
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190874
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190591
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228453
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227928
|
Meta Mutation Damage Score |
0.1276 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.8%
|
Validation Efficiency |
100% (42/42) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
G |
A |
6: 23,115,137 (GRCm39) |
H164Y |
probably damaging |
Het |
Acss2 |
T |
C |
2: 155,393,138 (GRCm39) |
I288T |
probably benign |
Het |
Akap9 |
C |
T |
5: 4,010,865 (GRCm39) |
R541C |
probably damaging |
Het |
Ano5 |
T |
C |
7: 51,229,222 (GRCm39) |
|
probably benign |
Het |
Anp32b |
T |
C |
4: 46,471,478 (GRCm39) |
|
probably benign |
Het |
Avil |
T |
C |
10: 126,847,659 (GRCm39) |
V528A |
possibly damaging |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Cdk10 |
T |
C |
8: 123,955,062 (GRCm39) |
|
probably benign |
Het |
Cfap65 |
A |
T |
1: 74,968,499 (GRCm39) |
F111Y |
probably damaging |
Het |
Cryge |
A |
G |
1: 65,089,967 (GRCm39) |
F72L |
probably benign |
Het |
Ercc3 |
C |
T |
18: 32,397,611 (GRCm39) |
T614I |
possibly damaging |
Het |
Fgd5 |
T |
C |
6: 91,965,483 (GRCm39) |
I572T |
probably benign |
Het |
Fubp1 |
A |
G |
3: 151,921,229 (GRCm39) |
D88G |
possibly damaging |
Het |
Gcnt1 |
C |
A |
19: 17,307,168 (GRCm39) |
V186F |
possibly damaging |
Het |
Gldc |
A |
T |
19: 30,138,162 (GRCm39) |
|
probably benign |
Het |
Gxylt2 |
A |
G |
6: 100,781,602 (GRCm39) |
M426V |
possibly damaging |
Het |
Hps5 |
A |
T |
7: 46,421,978 (GRCm39) |
|
probably null |
Het |
Igf2bp2 |
G |
A |
16: 21,880,603 (GRCm39) |
|
probably benign |
Het |
Lamb2 |
T |
C |
9: 108,358,607 (GRCm39) |
S215P |
probably damaging |
Het |
Mfsd13b |
T |
C |
7: 120,613,766 (GRCm39) |
M421T |
probably damaging |
Het |
Mtif2 |
C |
A |
11: 29,490,729 (GRCm39) |
R478S |
possibly damaging |
Het |
Nt5dc1 |
T |
C |
10: 34,274,169 (GRCm39) |
D167G |
possibly damaging |
Het |
Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Ppig |
T |
A |
2: 69,580,568 (GRCm39) |
S701T |
unknown |
Het |
Pramel17 |
T |
C |
4: 101,695,224 (GRCm39) |
E29G |
possibly damaging |
Het |
Ptprc |
A |
G |
1: 138,000,057 (GRCm39) |
S830P |
probably damaging |
Het |
Rev3l |
T |
A |
10: 39,727,921 (GRCm39) |
L2690* |
probably null |
Het |
Rgs22 |
A |
T |
15: 36,040,839 (GRCm39) |
S883T |
probably damaging |
Het |
Rxfp4 |
A |
G |
3: 88,559,894 (GRCm39) |
W186R |
probably damaging |
Het |
Sacm1l |
T |
C |
9: 123,395,476 (GRCm39) |
S200P |
probably benign |
Het |
Serpinb6d |
T |
A |
13: 33,855,212 (GRCm39) |
D295E |
probably damaging |
Het |
Slc38a10 |
A |
G |
11: 119,996,301 (GRCm39) |
V932A |
probably benign |
Het |
Top2b |
T |
C |
14: 16,430,329 (GRCm38) |
S1568P |
possibly damaging |
Het |
Tox |
T |
G |
4: 6,697,600 (GRCm39) |
N401T |
probably benign |
Het |
Trim24 |
T |
C |
6: 37,933,412 (GRCm39) |
|
probably null |
Het |
Unc79 |
T |
G |
12: 103,013,311 (GRCm39) |
|
probably benign |
Het |
Vmn2r66 |
A |
T |
7: 84,644,613 (GRCm39) |
I599N |
probably benign |
Het |
Zfa-ps |
T |
A |
10: 52,419,654 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Nadk2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01420:Nadk2
|
APN |
15 |
9,103,072 (GRCm39) |
missense |
probably damaging |
1.00 |
tabak
|
UTSW |
15 |
9,108,342 (GRCm39) |
missense |
probably damaging |
0.99 |
D4043:Nadk2
|
UTSW |
15 |
9,103,473 (GRCm39) |
splice site |
probably benign |
|
PIT4131001:Nadk2
|
UTSW |
15 |
9,100,232 (GRCm39) |
frame shift |
probably null |
|
PIT4142001:Nadk2
|
UTSW |
15 |
9,100,232 (GRCm39) |
frame shift |
probably null |
|
R0347:Nadk2
|
UTSW |
15 |
9,084,287 (GRCm39) |
missense |
probably benign |
0.08 |
R0838:Nadk2
|
UTSW |
15 |
9,091,322 (GRCm39) |
missense |
probably benign |
0.00 |
R0988:Nadk2
|
UTSW |
15 |
9,103,080 (GRCm39) |
missense |
probably damaging |
0.99 |
R1014:Nadk2
|
UTSW |
15 |
9,091,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R1387:Nadk2
|
UTSW |
15 |
9,106,870 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1861:Nadk2
|
UTSW |
15 |
9,108,399 (GRCm39) |
missense |
probably benign |
0.21 |
R1886:Nadk2
|
UTSW |
15 |
9,103,446 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2354:Nadk2
|
UTSW |
15 |
9,085,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R3623:Nadk2
|
UTSW |
15 |
9,084,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R3624:Nadk2
|
UTSW |
15 |
9,084,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R4642:Nadk2
|
UTSW |
15 |
9,092,810 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4867:Nadk2
|
UTSW |
15 |
9,098,946 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5314:Nadk2
|
UTSW |
15 |
9,108,401 (GRCm39) |
missense |
probably benign |
0.04 |
R7214:Nadk2
|
UTSW |
15 |
9,108,342 (GRCm39) |
missense |
probably damaging |
0.99 |
R7244:Nadk2
|
UTSW |
15 |
9,083,271 (GRCm39) |
splice site |
probably null |
|
R7310:Nadk2
|
UTSW |
15 |
9,103,469 (GRCm39) |
critical splice donor site |
probably null |
|
R7634:Nadk2
|
UTSW |
15 |
9,092,935 (GRCm39) |
missense |
probably benign |
0.41 |
R8310:Nadk2
|
UTSW |
15 |
9,103,420 (GRCm39) |
missense |
probably benign |
|
R8424:Nadk2
|
UTSW |
15 |
9,083,414 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9265:Nadk2
|
UTSW |
15 |
9,071,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R9658:Nadk2
|
UTSW |
15 |
9,103,449 (GRCm39) |
nonsense |
probably null |
|
R9746:Nadk2
|
UTSW |
15 |
9,106,824 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
|
Posted On |
2014-01-15 |