Incidental Mutation 'R9265:Nadk2'
| ID |
702493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nadk2
|
| Ensembl Gene |
ENSMUSG00000022253 |
| Gene Name |
NAD kinase 2, mitochondrial |
| Synonyms |
1110020G09Rik, Nadkd1, MNADK, 4933430B08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9265 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
9071340-9110584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9071774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 65
(T65A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067760]
[ENSMUST00000100789]
[ENSMUST00000100790]
[ENSMUST00000227191]
|
| AlphaFold |
Q8C5H8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067760
AA Change: T65A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000068318
Gene: ENSMUSG00000022253
AA Change: T65A
| 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: T65A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098353
Gene: ENSMUSG00000022253
AA Change: T65A
| 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: T65A
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098354
Gene: ENSMUSG00000022253
AA Change: T65A
| 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 |
probably benign
Transcript: ENSMUST00000227191
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (46/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a2 |
T |
C |
11: 61,153,094 (GRCm39) |
K211E |
probably damaging |
Het |
| Apba2 |
G |
T |
7: 64,393,020 (GRCm39) |
A514S |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,389,182 (GRCm39) |
T615I |
probably benign |
Het |
| Atrnl1 |
T |
A |
19: 57,766,359 (GRCm39) |
F1232Y |
probably benign |
Het |
| B4galt3 |
A |
G |
1: 171,101,617 (GRCm39) |
D197G |
probably damaging |
Het |
| Calcrl |
T |
G |
2: 84,200,400 (GRCm39) |
N127H |
possibly damaging |
Het |
| Camkv |
T |
G |
9: 107,825,262 (GRCm39) |
I421S |
possibly damaging |
Het |
| Cdc123 |
T |
C |
2: 5,808,765 (GRCm39) |
D237G |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,187,333 (GRCm39) |
T1143A |
probably benign |
Het |
| Col5a1 |
G |
A |
2: 27,854,123 (GRCm39) |
R569K |
unknown |
Het |
| Cpn1 |
T |
C |
19: 43,958,599 (GRCm39) |
I201V |
probably damaging |
Het |
| Cr1l |
T |
C |
1: 194,806,027 (GRCm39) |
D152G |
probably benign |
Het |
| Csf2rb |
A |
T |
15: 78,232,746 (GRCm39) |
E684D |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,294,163 (GRCm39) |
N1164I |
|
Het |
| Ddx42 |
A |
G |
11: 106,132,435 (GRCm39) |
N486S |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,060,040 (GRCm39) |
I2848T |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,674,505 (GRCm39) |
D424G |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,732,081 (GRCm39) |
H4275R |
probably benign |
Het |
| Epha6 |
G |
A |
16: 59,476,117 (GRCm39) |
T1083M |
probably damaging |
Het |
| Fzd1 |
A |
G |
5: 4,807,216 (GRCm39) |
I122T |
probably damaging |
Het |
| Gm28042 |
T |
C |
2: 119,871,705 (GRCm39) |
F914S |
probably damaging |
Het |
| Gpatch11 |
A |
G |
17: 79,146,547 (GRCm39) |
D64G |
probably benign |
Het |
| Hinfp |
A |
G |
9: 44,209,083 (GRCm39) |
V345A |
possibly damaging |
Het |
| Hoxd8 |
C |
T |
2: 74,536,115 (GRCm39) |
S75L |
probably benign |
Het |
| Igsf1 |
A |
G |
X: 48,884,191 (GRCm39) |
M2T |
possibly damaging |
Het |
| Krt42 |
C |
T |
11: 100,157,808 (GRCm39) |
E219K |
probably damaging |
Het |
| Mcm3 |
C |
A |
1: 20,879,905 (GRCm39) |
D531Y |
probably damaging |
Het |
| Msantd1 |
C |
T |
5: 35,080,861 (GRCm39) |
R264* |
probably null |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,089,456 (GRCm39) |
D5172G |
probably null |
Het |
| Nlrp9a |
G |
T |
7: 26,258,038 (GRCm39) |
R552I |
possibly damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,636,236 (GRCm39) |
T446A |
probably benign |
Het |
| Or4x11 |
T |
C |
2: 89,867,842 (GRCm39) |
I193T |
probably benign |
Het |
| Or51g2 |
C |
T |
7: 102,623,112 (GRCm39) |
W29* |
probably null |
Het |
| Or52s6 |
C |
A |
7: 103,092,165 (GRCm39) |
R55L |
possibly damaging |
Het |
| Or7g21 |
T |
A |
9: 19,032,984 (GRCm39) |
C241* |
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,553 (GRCm39) |
Q543R |
possibly damaging |
Het |
| Pcdhga6 |
A |
G |
18: 37,841,102 (GRCm39) |
H274R |
possibly damaging |
Het |
| Pknox1 |
A |
G |
17: 31,809,672 (GRCm39) |
D92G |
probably damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,573,294 (GRCm39) |
P386L |
probably benign |
Het |
| Rlf |
G |
C |
4: 121,007,487 (GRCm39) |
P608A |
possibly damaging |
Het |
| Sardh |
A |
T |
2: 27,105,065 (GRCm39) |
I686N |
probably damaging |
Het |
| Sstr3 |
G |
T |
15: 78,423,792 (GRCm39) |
N318K |
probably damaging |
Het |
| St6gal1 |
A |
G |
16: 23,140,168 (GRCm39) |
Y113C |
probably damaging |
Het |
| Syndig1 |
T |
C |
2: 149,845,160 (GRCm39) |
F228L |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,937,795 (GRCm39) |
C375* |
probably null |
Het |
| Zscan4c |
T |
A |
7: 10,740,824 (GRCm39) |
S114R |
probably benign |
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 |
|
R1159:Nadk2
|
UTSW |
15 |
9,106,925 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
R9658:Nadk2
|
UTSW |
15 |
9,103,449 (GRCm39) |
nonsense |
probably null |
|
|
R9746:Nadk2
|
UTSW |
15 |
9,106,824 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCATGACTTGCTACCGGGG -3'
(R):5'- ATCTTCTCAGCGATGGGAGTC -3'
Sequencing Primer
(F):5'- TTGCTACCGGGGCTTCCTG -3'
(R):5'- ACACGTGGCTTCCCAAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation