Mutagenetix > Incidental Mutation

Incidental Mutation 'R1973:Nuak2'

221176

Institutional Source

Beutler Lab

Gene Symbol

Nuak2

Ensembl Gene

ENSMUSG00000009772

Gene Name

NUAK family, SNF1-like kinase, 2

Synonyms

1200013B22Rik, Snark

MMRRC Submission

039986-MU

Accession Numbers

Essential gene?

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

Stock #

R1973 (G1)

Quality Score

139

Status

Not validated

Chromosome

Chromosomal Location

132243864-132261226 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132258340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 257 (H257L)

Ref Sequence

ENSEMBL: ENSMUSP00000072039 (fasta)

Gene Model

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

AlphaFold

Q8BZN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000072177
AA Change: H257L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072039
Gene: ENSMUSG00000009772
AA Change: H257L

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

probably damaging
Transcript: ENSMUST00000082125
AA Change: H249L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080769
Gene: ENSMUSG00000009772
AA Change: H249L

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

0.1063

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	C	5: 8,862,746 (GRCm39)	I143L	probably benign	Het
Acp7	T	A	7: 28,307,414 (GRCm39)	D481V	probably damaging	Het
AI597479	T	A	1: 43,150,286 (GRCm39)	I132K	probably benign	Het
Anxa13	T	C	15: 58,228,030 (GRCm39)		noncoding transcript	Het
Brca1	A	T	11: 101,417,229 (GRCm39)	C302S	probably benign	Het
Brd8	T	A	18: 34,741,066 (GRCm39)	D420V	probably damaging	Het
Cacna1g	A	T	11: 94,350,603 (GRCm39)	V414E	possibly damaging	Het
Ccdc142	T	A	6: 83,079,544 (GRCm39)	C294S	probably benign	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Chat	C	T	14: 32,146,148 (GRCm39)	V342I	probably benign	Het
Chd6	A	G	2: 160,808,307 (GRCm39)	S1636P	probably damaging	Het
Clec4a1	A	G	6: 122,901,793 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,731,897 (GRCm39)	I1452N	probably damaging	Het
Dennd2c	T	C	3: 103,039,014 (GRCm39)	V54A	probably benign	Het
Dnah1	C	T	14: 30,987,348 (GRCm39)	W3550*	probably null	Het
Efl1	T	C	7: 82,412,085 (GRCm39)	S825P	probably damaging	Het
Entrep2	A	T	7: 64,425,516 (GRCm39)	I192N	possibly damaging	Het
Faxc	G	A	4: 21,993,405 (GRCm39)	E350K	probably benign	Het
Frem2	T	A	3: 53,559,653 (GRCm39)	Y1618F	probably benign	Het
Fubp3	A	G	2: 31,493,298 (GRCm39)	T6A	probably benign	Het
Gm5814	A	T	17: 47,721,474 (GRCm39)	M63L	probably benign	Het
Gpr149	T	C	3: 62,438,216 (GRCm39)	K647R	probably benign	Het
Iqgap3	T	A	3: 87,991,235 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,127,281 (GRCm39)	V359A	probably damaging	Het
Kit	G	A	5: 75,776,102 (GRCm39)	A295T	probably damaging	Het
Krt77	G	T	15: 101,769,679 (GRCm39)	A397E	probably damaging	Het
Mis18bp1	G	C	12: 65,195,850 (GRCm39)	S638*	probably null	Het
Neurl4	C	T	11: 69,800,118 (GRCm39)	P1091S	probably benign	Het
Nod2	A	T	8: 89,379,501 (GRCm39)	M8L	probably damaging	Het
Nos1	A	G	5: 118,074,491 (GRCm39)	T1046A	possibly damaging	Het
Nsfl1c	G	T	2: 151,347,334 (GRCm39)	S202I	probably damaging	Het
Nwd1	T	C	8: 73,431,590 (GRCm39)	V1195A	possibly damaging	Het
Or10k2	T	C	8: 84,268,421 (GRCm39)	V216A	probably benign	Het
Or2ag12	T	C	7: 106,277,426 (GRCm39)	D89G	probably benign	Het
Or52a20	T	A	7: 103,365,804 (GRCm39)	M1K	probably null	Het
Or8b40	T	A	9: 38,027,863 (GRCm39)	M257K	possibly damaging	Het
Or8g51	A	G	9: 38,609,164 (GRCm39)	V170A	probably damaging	Het
Pclo	G	T	5: 14,726,073 (GRCm39)		probably null	Het
Pnpla7	A	G	2: 24,906,629 (GRCm39)	D664G	probably damaging	Het
Prl8a1	G	A	13: 27,760,917 (GRCm39)	T105I	probably benign	Het
Ptger1	C	A	8: 84,396,083 (GRCm39)	T380K	probably benign	Het
Ptk7	G	A	17: 46,897,733 (GRCm39)	Q282*	probably null	Het
Ptpn18	G	T	1: 34,502,190 (GRCm39)	D45Y	probably damaging	Het
Rab11fip3	T	C	17: 26,243,365 (GRCm39)	D589G	probably damaging	Het
Rara	A	G	11: 98,862,496 (GRCm39)	N299S	possibly damaging	Het
Rpl13a	T	A	7: 44,775,419 (GRCm39)	K368*	probably null	Het
Rslcan18	T	C	13: 67,256,087 (GRCm39)		probably benign	Het
Rtel1	A	G	2: 180,993,419 (GRCm39)	Y731C	probably benign	Het
Sec16a	A	T	2: 26,316,501 (GRCm39)	S1666R	probably damaging	Het
Sis	A	G	3: 72,828,337 (GRCm39)	F1217S	probably damaging	Het
Slc10a7	T	A	8: 79,423,962 (GRCm39)		probably null	Het
Slc22a7	A	G	17: 46,748,016 (GRCm39)	V214A	probably damaging	Het
Slc26a8	T	C	17: 28,882,579 (GRCm39)	I249V	probably benign	Het
Slc38a4	T	C	15: 96,897,478 (GRCm39)	K446E	probably benign	Het
Sned1	G	A	1: 93,192,795 (GRCm39)	G361S	probably damaging	Het
Spef2	T	G	15: 9,663,152 (GRCm39)	*876C	probably null	Het
Spink11	A	G	18: 44,329,205 (GRCm39)	C14R	unknown	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tnfaip3	T	C	10: 18,880,252 (GRCm39)	N605S	probably damaging	Het
Trpc1	A	G	9: 95,605,308 (GRCm39)	M283T	probably benign	Het
Ttn	A	G	2: 76,544,706 (GRCm39)	S32799P	probably damaging	Het
Ttn	A	G	2: 76,550,443 (GRCm39)	I31613T	probably damaging	Het
Ugt1a10	A	T	1: 87,983,769 (GRCm39)	Y189F	probably damaging	Het
Usp32	G	T	11: 84,994,757 (GRCm39)	L52I	probably benign	Het
Usp33	A	G	3: 152,065,923 (GRCm39)	T68A	possibly damaging	Het
Vmn1r7	A	G	6: 57,002,011 (GRCm39)	F83S	probably benign	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Vps26c	T	C	16: 94,302,405 (GRCm39)	N267S	probably damaging	Het
Wdr43	A	G	17: 71,947,235 (GRCm39)	N364D	probably benign	Het
Zdbf2	C	A	1: 63,348,860 (GRCm39)	P2413Q	unknown	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
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
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'- ACCGGCAGCATCTTATCCTG -3'
(R):5'- ACCGTTGTCTAGTCACTGTG -3'

Sequencing Primer
(F):5'- TTCACCTCTAGTTACAAGAGCGGG -3'
(R):5'- CTAGTCACTGTGTTGGGAATCAC -3'

Posted On

2014-08-25