Mutagenetix > Incidental Mutation

Incidental Mutation 'R3891:Nuak2'

310375

Institutional Source

Beutler Lab

Gene Symbol

Nuak2

Ensembl Gene

ENSMUSG00000009772

Gene Name

NUAK family, SNF1-like kinase, 2

Synonyms

1200013B22Rik, Snark

MMRRC Submission

040803-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R3891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132243864-132261226 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 132259223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 342 (A342S)

Ref Sequence

ENSEMBL: ENSMUSP00000072039 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072177] [ENSMUST00000082125]

AlphaFold

Q8BZN4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072177
AA Change: A342S

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072039
Gene: ENSMUSG00000009772
AA Change: A342S

Domain	Start	End	E-Value	Type
low complexity region	7	28	N/A	INTRINSIC
low complexity region	45	56	N/A	INTRINSIC
S_TKc	57	315	5.53e-99	SMART
low complexity region	471	485	N/A	INTRINSIC
low complexity region	543	557	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082125
AA Change: A334S

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080769
Gene: ENSMUSG00000009772
AA Change: A334S

Domain	Start	End	E-Value	Type
low complexity region	7	28	N/A	INTRINSIC
low complexity region	45	56	N/A	INTRINSIC
S_TKc	57	307	6.1e-106	SMART
low complexity region	463	477	N/A	INTRINSIC
low complexity region	535	549	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133246

Meta Mutation Damage Score

0.0979

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (51/51)

MGI Phenotype

PHENOTYPE: Most homozygous null mice are exencephalic and die at E16.5 while survivors show a higher number of azoxymethane (AOM)-induced aberrant crypt foci (ACF) in colon. Heterozygotes show increased susceptibility to AOM-induced ACF formation and colon tumors, mature-onset obesity and metabolic disorders. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	G	4: 128,655,847 (GRCm39)	T72A	probably damaging	Het
Ascc3	T	A	10: 50,718,289 (GRCm39)	I1994N	probably damaging	Het
C1qb	A	T	4: 136,607,727 (GRCm39)	V212E	probably damaging	Het
Cfap54	T	A	10: 92,874,708 (GRCm39)	I563F	possibly damaging	Het
Clip2	T	C	5: 134,551,847 (GRCm39)	K92E	probably damaging	Het
Clrn3	T	C	7: 135,120,194 (GRCm39)	T131A	possibly damaging	Het
Col9a1	T	C	1: 24,224,517 (GRCm39)		probably null	Het
Def8	T	C	8: 124,185,083 (GRCm39)		probably benign	Het
Diaph1	C	A	18: 38,033,691 (GRCm39)		probably benign	Het
Dmrta1	A	T	4: 89,579,831 (GRCm39)	I264F	possibly damaging	Het
Dscaml1	A	T	9: 45,628,782 (GRCm39)	D1112V	possibly damaging	Het
Ehbp1l1	A	G	19: 5,768,340 (GRCm39)	S988P	possibly damaging	Het
Gabrr2	A	G	4: 33,081,348 (GRCm39)	Y4C	probably damaging	Het
Gm10088	T	C	16: 18,847,001 (GRCm39)		noncoding transcript	Het
Gm5616	A	G	9: 48,361,809 (GRCm39)		noncoding transcript	Het
H2-T24	T	A	17: 36,326,330 (GRCm39)	I190F	possibly damaging	Het
Hmcn1	A	T	1: 150,510,946 (GRCm39)	D3592E	probably damaging	Het
Il1rap	A	G	16: 26,495,606 (GRCm39)	Y71C	probably damaging	Het
Krt1	T	A	15: 101,758,847 (GRCm39)	S106C	unknown	Het
Lsamp	T	C	16: 39,805,054 (GRCm39)	V11A	probably benign	Het
Mob1b	T	A	5: 88,901,061 (GRCm39)	I156K	probably damaging	Het
Naip2	T	A	13: 100,297,606 (GRCm39)	E810V	probably damaging	Het
Nfe2l1	A	G	11: 96,710,823 (GRCm39)	S181P	possibly damaging	Het
Nos1ap	T	C	1: 170,177,025 (GRCm39)	Y126C	probably damaging	Het
Or10ah1-ps1	G	T	5: 143,123,152 (GRCm39)	S290R	probably benign	Het
Or2aj5	A	G	16: 19,425,205 (GRCm39)	I71T	probably damaging	Het
Or2t1	T	A	14: 14,328,114 (GRCm38)	M1K	probably null	Het
Pcdhb16	A	T	18: 37,612,422 (GRCm39)	I461F	probably benign	Het
Pcdhga10	A	C	18: 37,882,534 (GRCm39)	H765P	probably benign	Het
Pex2	C	T	3: 5,626,008 (GRCm39)	C267Y	probably damaging	Het
Pgghg	T	C	7: 140,525,616 (GRCm39)	I473T	probably damaging	Het
Polr2e	G	T	10: 79,873,213 (GRCm39)	P80T	probably benign	Het
Pum1	T	C	4: 130,491,393 (GRCm39)	L774P	probably damaging	Het
Rasef	A	G	4: 73,698,634 (GRCm39)	V9A	probably benign	Het
Rpl13	A	G	8: 123,831,907 (GRCm39)	E201G	probably damaging	Het
Skint2	A	G	4: 112,481,383 (GRCm39)	E82G	probably damaging	Het
Skor2	A	G	18: 76,946,350 (GRCm39)	D24G	unknown	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc29a3	T	A	10: 60,552,040 (GRCm39)	K335*	probably null	Het
Slc30a6	T	A	17: 74,726,541 (GRCm39)	D282E	probably benign	Het
Slc9a7	A	G	X: 20,052,352 (GRCm39)	F247S	probably damaging	Het
Slx4	A	T	16: 3,797,773 (GRCm39)	I1537N	probably damaging	Het
Specc1	C	T	11: 62,042,739 (GRCm39)	T872M	probably benign	Het
Stard10	G	A	7: 100,993,137 (GRCm39)	R231Q	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tesl1	A	G	X: 23,773,180 (GRCm39)	Y227C	probably damaging	Het
Vwa1	T	C	4: 155,857,651 (GRCm39)	E49G	probably damaging	Het
Zc3h12a	A	G	4: 125,020,678 (GRCm39)	F55S	probably damaging	Het
Zmym4	A	G	4: 126,798,269 (GRCm39)	I786T	probably benign	Het

Other mutations in Nuak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01607:Nuak2	APN	1	132,255,878 (GRCm39)	missense	probably damaging	1.00
IGL01660:Nuak2	APN	1	132,259,308 (GRCm39)	missense	probably benign	0.12
IGL02093:Nuak2	APN	1	132,259,850 (GRCm39)	missense	probably benign
IGL02731:Nuak2	APN	1	132,244,095 (GRCm39)	missense	probably damaging	1.00
IGL03231:Nuak2	APN	1	132,255,915 (GRCm39)	missense	probably damaging	1.00
R0547:Nuak2	UTSW	1	132,259,941 (GRCm39)	missense	probably benign	0.09
R1972:Nuak2	UTSW	1	132,258,340 (GRCm39)	missense	probably damaging	0.98
R1973:Nuak2	UTSW	1	132,258,340 (GRCm39)	missense	probably damaging	0.98
R2897:Nuak2	UTSW	1	132,252,791 (GRCm39)	missense	probably damaging	1.00
R3420:Nuak2	UTSW	1	132,259,818 (GRCm39)	missense	probably benign	0.00
R3421:Nuak2	UTSW	1	132,259,818 (GRCm39)	missense	probably benign	0.00
R3422:Nuak2	UTSW	1	132,259,818 (GRCm39)	missense	probably benign	0.00
R3890:Nuak2	UTSW	1	132,259,223 (GRCm39)	missense	possibly damaging	0.79
R3892:Nuak2	UTSW	1	132,259,223 (GRCm39)	missense	possibly damaging	0.79
R4899:Nuak2	UTSW	1	132,252,724 (GRCm39)	nonsense	probably null
R5068:Nuak2	UTSW	1	132,259,509 (GRCm39)	missense	probably benign	0.04
R6243:Nuak2	UTSW	1	132,260,105 (GRCm39)	missense	probably benign	0.01
R6310:Nuak2	UTSW	1	132,257,699 (GRCm39)	missense	probably damaging	1.00
R6505:Nuak2	UTSW	1	132,244,132 (GRCm39)	missense	probably damaging	1.00
R6694:Nuak2	UTSW	1	132,260,048 (GRCm39)	missense	probably damaging	1.00
R6966:Nuak2	UTSW	1	132,252,770 (GRCm39)	missense	possibly damaging	0.95
R7569:Nuak2	UTSW	1	132,244,019 (GRCm39)	missense	possibly damaging	0.85
R7708:Nuak2	UTSW	1	132,252,770 (GRCm39)	missense	possibly damaging	0.95
R7879:Nuak2	UTSW	1	132,259,695 (GRCm39)	missense	probably benign
R8288:Nuak2	UTSW	1	132,255,579 (GRCm39)	missense	probably damaging	1.00
R8927:Nuak2	UTSW	1	132,255,916 (GRCm39)	missense	probably damaging	1.00
R8928:Nuak2	UTSW	1	132,255,916 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGAGGACCTTGGATGCTGG -3'
(R):5'- ACCTTGCAGATTTTGAGCCATG -3'

Sequencing Primer
(F):5'- GCTGGTTCTTGCAGCTCTCAAG -3'
(R):5'- GCAGATTTTGAGCCATGTCATTC -3'

Posted On

2015-04-17