Mutagenetix > Incidental Mutation

Incidental Mutation 'R1886:Nadk2'

209588

Institutional Source

Beutler Lab

Gene Symbol

Nadk2

Ensembl Gene

ENSMUSG00000022253

Gene Name

NAD kinase 2, mitochondrial

Synonyms

1110020G09Rik, Nadkd1, MNADK, 4933430B08Rik

MMRRC Submission

039907-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9071340-9110584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 9103446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 308 (N308H)

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: N359H

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000068318
Gene: ENSMUSG00000022253
AA Change: N359H

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: N308H

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098353
Gene: ENSMUSG00000022253
AA Change: N308H

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: N337H

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098354
Gene: ENSMUSG00000022253
AA Change: N337H

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

unknown
Transcript: ENSMUST00000188194
AA Change: E27A

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: ENSMUST00000227928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228453

Coding Region Coverage

1x: 97.2%
3x: 96.2%
10x: 93.1%
20x: 85.9%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,302,227 (GRCm39)	T278A	probably benign	Het
Acacb	T	A	5: 114,357,020 (GRCm39)	L1317Q	probably damaging	Het
Acsf3	T	C	8: 123,510,741 (GRCm39)	V293A	probably damaging	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Aen	A	T	7: 78,557,073 (GRCm39)	D307V	probably damaging	Het
Ahnak	G	A	19: 8,993,343 (GRCm39)	D4876N	probably damaging	Het
Ap2b1	T	A	11: 83,281,561 (GRCm39)	N822K	probably damaging	Het
Arhgdia	T	C	11: 120,470,244 (GRCm39)	D143G	probably benign	Het
Bcl9	G	T	3: 97,122,713 (GRCm39)	R29S	probably benign	Het
Bhmt2	T	A	13: 93,798,998 (GRCm39)	K274N	probably benign	Het
Brip1	C	A	11: 86,029,641 (GRCm39)	G631V	probably damaging	Het
Cacna1i	A	G	15: 80,243,145 (GRCm39)	E434G	probably damaging	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cfap299	A	G	5: 98,949,690 (GRCm39)	N208S	probably benign	Het
Cit	A	G	5: 116,071,545 (GRCm39)	Y584C	probably damaging	Het
Crebl2	T	C	6: 134,828,059 (GRCm39)	M77T	probably benign	Het
Dach2	G	A	X: 112,208,305 (GRCm39)	G61D	probably benign	Het
Ddx4	A	T	13: 112,759,199 (GRCm39)	D237E	probably damaging	Het
Dgcr8	A	G	16: 18,096,218 (GRCm39)	I490T	possibly damaging	Het
Dmxl1	G	A	18: 49,992,202 (GRCm39)	R316H	probably benign	Het
Dnah17	T	A	11: 117,998,987 (GRCm39)	I929F	possibly damaging	Het
Eif3f	A	G	7: 108,539,958 (GRCm39)	T289A	probably benign	Het
Ercc5	A	T	1: 44,215,136 (GRCm39)	K890*	probably null	Het
Esrp2	A	T	8: 106,860,489 (GRCm39)	V247E	probably damaging	Het
Evpl	C	T	11: 116,118,402 (GRCm39)	G735E	probably damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fbxl21	A	G	13: 56,674,906 (GRCm39)	I60V	probably benign	Het
Frem3	A	G	8: 81,340,514 (GRCm39)	I936V	probably benign	Het
Fsd1l	T	C	4: 53,696,984 (GRCm39)		probably null	Het
Gad1-ps	T	C	10: 99,281,444 (GRCm39)		noncoding transcript	Het
Gbp2b	A	G	3: 142,314,063 (GRCm39)	T448A	probably benign	Het
Gfus	G	T	15: 75,798,838 (GRCm39)	T123N	possibly damaging	Het
Gmppa	T	C	1: 75,419,152 (GRCm39)	V353A	probably damaging	Het
Hmcn1	T	C	1: 150,453,046 (GRCm39)	E5423G	probably benign	Het
Hmgxb3	A	G	18: 61,270,473 (GRCm39)		probably null	Het
Krt12	T	C	11: 99,309,402 (GRCm39)	D286G	probably damaging	Het
Krt75	A	T	15: 101,479,532 (GRCm39)	M266K	probably damaging	Het
Ksr1	C	A	11: 78,911,204 (GRCm39)	V11F	probably null	Het
Lag3	T	C	6: 124,886,402 (GRCm39)	N184D	probably damaging	Het
Lsm10	C	G	4: 125,991,741 (GRCm39)	D32E	probably benign	Het
Mettl5	A	G	2: 69,711,149 (GRCm39)	V123A	probably damaging	Het
Mfrp	A	G	9: 44,014,785 (GRCm39)	D274G	possibly damaging	Het
Mgat3	A	G	15: 80,095,820 (GRCm39)	I216V	probably benign	Het
Mkrn3	G	A	7: 62,068,486 (GRCm39)	A435V	probably benign	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Mplkipl1	A	G	19: 61,164,136 (GRCm39)	F100L	probably damaging	Het
Mttp	A	T	3: 137,798,376 (GRCm39)	V840D	probably damaging	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nlk	T	A	11: 78,477,754 (GRCm39)	I330F	probably damaging	Het
Ofcc1	T	C	13: 40,360,100 (GRCm39)	S310G	possibly damaging	Het
Or5p57	T	C	7: 107,665,985 (GRCm39)	N7D	probably benign	Het
Or5p73	A	T	7: 108,064,947 (GRCm39)	M139L	probably benign	Het
Orc2	T	C	1: 58,510,247 (GRCm39)		probably null	Het
Orc3	A	G	4: 34,584,829 (GRCm39)	Y459H	probably damaging	Het
Pah	T	A	10: 87,364,190 (GRCm39)	N30K	possibly damaging	Het
Pcsk4	T	C	10: 80,164,794 (GRCm39)	K74E	probably benign	Het
Pdlim7	C	T	13: 55,653,981 (GRCm39)	G212D	probably benign	Het
Pfkm	A	G	15: 98,025,627 (GRCm39)	N547S	probably damaging	Het
Por	A	G	5: 135,763,128 (GRCm39)	E546G	probably damaging	Het
Ppp1r13l	T	C	7: 19,111,496 (GRCm39)	S774P	probably damaging	Het
Prdm1	T	A	10: 44,315,754 (GRCm39)	D794V	probably damaging	Het
Prdx5	A	G	19: 6,885,558 (GRCm39)	I32T	probably benign	Het
Prlhr	G	T	19: 60,455,932 (GRCm39)	C211*	probably null	Het
Ripk3	C	T	14: 56,025,694 (GRCm39)		probably null	Het
Rmnd5b	G	A	11: 51,518,465 (GRCm39)	A137V	probably damaging	Het
Rwdd2b	A	T	16: 87,234,013 (GRCm39)	F72I	probably benign	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Septin1	A	G	7: 126,813,937 (GRCm39)		probably benign	Het
Serpinb9h	C	T	13: 33,588,203 (GRCm39)	R263C	possibly damaging	Het
Slc30a10	T	A	1: 185,195,061 (GRCm39)	I291N	probably damaging	Het
Slc7a9	T	G	7: 35,152,827 (GRCm39)	C20W	possibly damaging	Het
Slc7a9	G	C	7: 35,152,828 (GRCm39)	A21P	probably damaging	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Sra1	T	C	18: 36,801,830 (GRCm39)	M87V	probably benign	Het
Syvn1	T	C	19: 6,099,257 (GRCm39)	S169P	possibly damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Tmem62	A	T	2: 120,817,151 (GRCm39)	I236F	probably damaging	Het
Trip4	T	A	9: 65,782,163 (GRCm39)	I190F	probably null	Het
Trpa1	T	C	1: 14,959,649 (GRCm39)	D679G	probably benign	Het
Ttc22	T	A	4: 106,494,063 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tyrp1	T	A	4: 80,759,043 (GRCm39)		probably null	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Usp36	A	T	11: 118,163,784 (GRCm39)	Y255N	probably damaging	Het
Zfp944	A	T	17: 22,558,960 (GRCm39)	Y96N	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
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

PCR Primer
(F):5'- ATGGGCTATGTAATGCTGTGTA -3'
(R):5'- CATGGTGAACACAAGTGAACACT -3'

Sequencing Primer
(F):5'- GGCTATGTAATGCTGTGTATTTGAG -3'
(R):5'- GGCTCACAGGTAGATATTTGCCATC -3'

Posted On

2014-06-30