Mutagenetix > Incidental Mutation

Incidental Mutation 'R9658:Nadk2'

735565

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) question?

Stock #

R9658 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9071340-9110584 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 9103449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 360 (K360*)

Ref Sequence

ENSEMBL: ENSMUSP00000068318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067760] [ENSMUST00000100789] [ENSMUST00000100790] [ENSMUST00000188194]

AlphaFold

Q8C5H8

Predicted Effect

probably null
Transcript: ENSMUST00000067760
AA Change: K360*

SMART Domains

Protein: ENSMUSP00000068318
Gene: ENSMUSG00000022253
AA Change: K360*

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 null
Transcript: ENSMUST00000100789
AA Change: K309*

SMART Domains

Protein: ENSMUSP00000098353
Gene: ENSMUSG00000022253
AA Change: K309*

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 null
Transcript: ENSMUST00000100790
AA Change: K338*

SMART Domains

Protein: ENSMUSP00000098354
Gene: ENSMUSG00000022253
AA Change: K338*

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

unknown
Transcript: ENSMUST00000188194
AA Change: Q28L

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	C	T	18: 70,600,401 (GRCm39)		probably null	Het
Abca12	T	C	1: 71,325,634 (GRCm39)	I1521M	probably damaging	Het
Abcc3	A	G	11: 94,263,703 (GRCm39)	S268P	possibly damaging	Het
Adamts20	G	C	15: 94,249,626 (GRCm39)	P464A	probably damaging	Het
Apoa1	C	A	9: 46,141,280 (GRCm39)	D125E	probably benign	Het
Atp6v0a1	C	A	11: 100,909,414 (GRCm39)	Q48K	probably benign	Het
Bptf	T	C	11: 107,002,170 (GRCm39)	N314S	probably damaging	Het
Cdh20	T	C	1: 109,988,785 (GRCm39)	V229A	probably damaging	Het
Cfap46	G	A	7: 139,246,229 (GRCm39)	T378M		Het
Clca3b	T	A	3: 144,543,575 (GRCm39)	D418V	probably damaging	Het
Dennd4c	T	A	4: 86,754,625 (GRCm39)	L1545*	probably null	Het
Dnajc13	A	G	9: 104,115,728 (GRCm39)	V27A	probably benign	Het
Efcab3	A	G	11: 104,611,120 (GRCm39)	K321E	probably benign	Het
Eif2ak2	A	T	17: 79,183,632 (GRCm39)	D72E	probably benign	Het
Eif2ak4	T	C	2: 118,269,511 (GRCm39)	I862T	probably damaging	Het
Eif4g1	T	C	16: 20,502,863 (GRCm39)	I1022T	probably benign	Het
Enpp3	A	T	10: 24,649,802 (GRCm39)	*875R	probably null	Het
F11	T	C	8: 45,698,671 (GRCm39)	Y491C	probably damaging	Het
Fam98c	A	C	7: 28,852,206 (GRCm39)	W118G	probably damaging	Het
Fbxo43	A	T	15: 36,152,282 (GRCm39)	L509Q	probably damaging	Het
Fbxw5	A	G	2: 25,393,870 (GRCm39)	H366R	probably damaging	Het
Flt1	G	T	5: 147,525,377 (GRCm39)	N920K	probably damaging	Het
Git1	T	A	11: 77,390,581 (GRCm39)	F106I	probably damaging	Het
Glipr1l2	A	G	10: 111,942,868 (GRCm39)	E241G	probably damaging	Het
Gm2381	A	C	7: 42,469,729 (GRCm39)	C132G	probably damaging	Het
Gm49383	A	G	12: 69,239,628 (GRCm39)	I237T		Het
Gm7324	T	A	14: 43,952,282 (GRCm39)	D308E	probably benign	Het
Gpr17	A	G	18: 32,080,421 (GRCm39)	L214P	probably damaging	Het
Gtf3c1	A	T	7: 125,306,734 (GRCm39)	L39Q	probably damaging	Het
H2-Q6	C	T	17: 35,644,185 (GRCm39)	R56C	probably damaging	Het
Hcar2	T	C	5: 124,002,532 (GRCm39)	T324A	possibly damaging	Het
Ksr2	T	C	5: 117,885,425 (GRCm39)	S750P	probably damaging	Het
Lipi	C	A	16: 75,357,689 (GRCm39)	R292L	probably benign	Het
Map4k3	C	A	17: 80,961,306 (GRCm39)	M133I	probably benign	Het
Marf1	A	T	16: 13,958,087 (GRCm39)	L805Q	probably damaging	Het
Mccc2	T	A	13: 100,090,754 (GRCm39)	R460W	probably damaging	Het
Mgam	A	G	6: 40,721,311 (GRCm39)	D312G	possibly damaging	Het
Nalf1	T	C	8: 9,820,114 (GRCm39)	D302G	probably benign	Het
Nars2	A	G	7: 96,689,178 (GRCm39)	I367V	probably benign	Het
Nppb	T	C	4: 148,070,951 (GRCm39)	S109P	possibly damaging	Het
Odf2	G	A	2: 29,779,813 (GRCm39)	R15Q	probably benign	Het
Or4f59	C	A	2: 111,872,823 (GRCm39)	A185S	probably damaging	Het
Or51l4	C	T	7: 103,404,028 (GRCm39)	V255M	probably damaging	Het
Or5ac25	A	T	16: 59,182,106 (GRCm39)	H158Q	probably damaging	Het
Osbpl1a	A	T	18: 12,889,269 (GRCm39)	I949N	probably benign	Het
Pan3	T	C	5: 147,479,881 (GRCm39)	F55L	probably benign	Het
Patj	A	G	4: 98,353,377 (GRCm39)	D640G	probably null	Het
Pdxk	T	C	10: 78,287,403 (GRCm39)	K53E	probably benign	Het
Pja2	A	G	17: 64,599,868 (GRCm39)	S539P	probably damaging	Het
Plscr1	T	A	9: 92,148,535 (GRCm39)	C158*	probably null	Het
Prdm14	T	C	1: 13,189,145 (GRCm39)	T400A	probably benign	Het
Rag1	C	T	2: 101,473,229 (GRCm39)	V638M	possibly damaging	Het
Ros1	A	G	10: 51,967,069 (GRCm39)	S1734P	probably damaging	Het
S100a9	T	C	3: 90,600,081 (GRCm39)	H105R	unknown	Het
Shisa9	A	T	16: 12,062,520 (GRCm39)	Q247L	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc27a4	G	A	2: 29,701,301 (GRCm39)	R364Q	probably damaging	Het
Spag17	C	T	3: 99,934,932 (GRCm39)	P713S	possibly damaging	Het
Tbc1d4	T	A	14: 101,845,856 (GRCm39)	H14L	probably damaging	Het
Tmem144	T	A	3: 79,729,991 (GRCm39)	Y253F	probably damaging	Het
Tmem204	C	T	17: 25,299,322 (GRCm39)	G66R	possibly damaging	Het
Tnfrsf1b	A	T	4: 144,942,424 (GRCm39)	V453E	probably damaging	Het
Tns1	G	C	1: 73,981,182 (GRCm39)	Q1061E	probably benign	Het
Tns1	G	T	1: 73,981,183 (GRCm39)	N1060K	probably benign	Het
Trav5-1	A	G	14: 52,860,428 (GRCm39)	K78E	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Usp17lc	G	A	7: 103,067,389 (GRCm39)	G228D	possibly damaging	Het
Uvssa	T	C	5: 33,568,333 (GRCm39)	C574R	probably damaging	Het
Veph1	G	A	3: 66,171,434 (GRCm39)	Q3*	probably null	Het
Vps13b	T	A	15: 35,623,774 (GRCm39)	D1230E	probably benign	Het
Xkr9	T	A	1: 13,771,318 (GRCm39)	I278N	probably damaging	Het
Zbed4	C	A	15: 88,664,742 (GRCm39)	A270E	probably benign	Het
Zfp366	A	T	13: 99,365,435 (GRCm39)	T199S	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
R9265:Nadk2	UTSW	15	9,071,774 (GRCm39)	missense	probably damaging	1.00
R9746:Nadk2	UTSW	15	9,106,824 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTAATGGGCTATGCAATGCTG -3'
(R):5'- GCTCATGGTGAACACAAGTGAAC -3'

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

Posted On

2022-11-14