Mutagenetix > Incidental Mutation

Incidental Mutation 'R6966:Nuak2'

541978

Institutional Source

Beutler Lab

Gene Symbol

Nuak2

Ensembl Gene

ENSMUSG00000009772

Gene Name

NUAK family, SNF1-like kinase, 2

Synonyms

1200013B22Rik, Snark

MMRRC Submission

045076-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R6966 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132243864-132261226 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132252770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 108 (M108T)

Ref Sequence

ENSEMBL: ENSMUSP00000080769 (fasta)

Gene Model

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

AlphaFold

Q8BZN4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072177
AA Change: M108T

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072039
Gene: ENSMUSG00000009772
AA Change: M108T

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: M108T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000080769
Gene: ENSMUSG00000009772
AA Change: M108T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	G	A	8: 43,974,472 (GRCm39)	R177C	possibly damaging	Het
Adgrb2	CG	C	4: 129,908,155 (GRCm39)		probably null	Het
Bahcc1	G	A	11: 120,173,985 (GRCm39)	V1582M	probably damaging	Het
Baiap2	A	T	11: 119,897,231 (GRCm39)	R529*	probably null	Het
Bcl9l	C	T	9: 44,420,685 (GRCm39)	Q1327*	probably null	Het
Brsk2	T	A	7: 141,538,270 (GRCm39)	C139S	possibly damaging	Het
Catsper3	T	A	13: 55,946,672 (GRCm39)	I123N	probably damaging	Het
Cd84	A	G	1: 171,713,976 (GRCm39)	N325D	possibly damaging	Het
Chid1	T	A	7: 141,076,297 (GRCm39)	Y357F	possibly damaging	Het
Clstn2	A	T	9: 97,408,459 (GRCm39)	Y416*	probably null	Het
Cnot1	A	T	8: 96,451,160 (GRCm39)	L2189Q	probably damaging	Het
Csnk2b	T	A	17: 35,336,758 (GRCm39)	I170L	probably benign	Het
Dnah3	T	C	7: 119,631,977 (GRCm39)	Q1326R	probably damaging	Het
Drd1	T	C	13: 54,207,564 (GRCm39)	I210V	probably damaging	Het
Eef1d	G	T	15: 75,775,558 (GRCm39)	Q34K	probably benign	Het
Fam184a	T	C	10: 53,531,095 (GRCm39)	T760A	probably benign	Het
Fnip1	G	T	11: 54,373,385 (GRCm39)	V199F	probably benign	Het
Glyatl3	T	C	17: 41,215,829 (GRCm39)	K226E	probably damaging	Het
Gm19410	C	T	8: 36,285,127 (GRCm39)	T2093I	possibly damaging	Het
Herc1	A	T	9: 66,318,347 (GRCm39)	E1206D	probably benign	Het
Hs6st1	G	A	1: 36,143,299 (GRCm39)	W411*	probably null	Het
Hsf2	C	A	10: 57,372,080 (GRCm39)	S60R	probably damaging	Het
Hyal5	C	A	6: 24,891,291 (GRCm39)	N368K	probably damaging	Het
Itgb2l	A	T	16: 96,231,843 (GRCm39)	F308I	probably benign	Het
Kdm7a	G	A	6: 39,129,773 (GRCm39)	L468F	probably damaging	Het
Lamp3	A	T	16: 19,518,403 (GRCm39)	L278*	probably null	Het
Ly6c1	A	T	15: 74,917,289 (GRCm39)		probably benign	Het
Mark3	A	G	12: 111,606,458 (GRCm39)	N524D	probably damaging	Het
Met	T	G	6: 17,531,531 (GRCm39)	L603R	possibly damaging	Het
Mical1	A	T	10: 41,355,750 (GRCm39)	Q198L	probably damaging	Het
Nacad	T	A	11: 6,552,634 (GRCm39)	I186F	possibly damaging	Het
Nt5c3b	A	T	11: 100,320,750 (GRCm39)	M257K	probably benign	Het
Nub1	T	A	5: 24,894,470 (GRCm39)	Y51N	probably damaging	Het
Nxpe5	T	C	5: 138,237,679 (GRCm39)	S68P	probably damaging	Het
Or10ag58	C	T	2: 87,265,623 (GRCm39)	T264I	probably damaging	Het
Or5d44	A	G	2: 88,141,835 (GRCm39)	S102P	probably benign	Het
Or6c66	A	G	10: 129,461,633 (GRCm39)	V99A	probably benign	Het
Pias3	A	G	3: 96,609,511 (GRCm39)	D276G	probably damaging	Het
Setd7	A	G	3: 51,437,605 (GRCm39)	Y217H	probably damaging	Het
Slc23a1	A	T	18: 35,758,114 (GRCm39)	I142N	probably damaging	Het
Slx4ip	T	C	2: 136,910,144 (GRCm39)	S310P	probably damaging	Het
Tcp11l2	G	A	10: 84,427,133 (GRCm39)	R199Q	possibly damaging	Het
Tgm4	T	A	9: 122,880,207 (GRCm39)	D226E	possibly damaging	Het
Tspyl4	C	A	10: 34,173,673 (GRCm39)	A55E	probably benign	Het
Uap1l1	A	G	2: 25,254,950 (GRCm39)	I146T	probably damaging	Het
Ush2a	G	A	1: 188,308,441 (GRCm39)	G2030D	probably damaging	Het
Uts2r	G	A	11: 121,052,213 (GRCm39)	G359D	possibly damaging	Het
Vwa7	T	C	17: 35,236,072 (GRCm39)	S9P	probably benign	Het
Zbtb16	A	G	9: 48,568,654 (GRCm39)	C604R	probably damaging	Het
Zfp804b	A	G	5: 6,821,615 (GRCm39)	S483P	probably damaging	Het
Zfpm1	G	A	8: 123,058,904 (GRCm39)	A175T	probably damaging	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
R3891: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
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'- TTCAAATTGCTGCCACCTGC -3'
(R):5'- GCAACTCCAAAGCCTTTATCATTC -3'

Sequencing Primer
(F):5'- AGCTGCAGGCAGAGTTCCAG -3'
(R):5'- CTTATCTTAGGCAGCCTAGAGC -3'

Posted On

2018-11-28