Mutagenetix > Incidental Mutation

Incidental Mutation 'R2886:Nrk'

261071

Institutional Source

Beutler Lab

Gene Symbol

Nrk

Ensembl Gene

ENSMUSG00000052854

Gene Name

Nik related kinase

Synonyms

Nesk

MMRRC Submission

040474-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R2886 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

137815179-137911281 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137876197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 466 (L466P)

Ref Sequence

ENSEMBL: ENSMUSP00000115962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064937] [ENSMUST00000113052] [ENSMUST00000131829]

AlphaFold

Q9R0G8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064937
AA Change: L466P

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063397
Gene: ENSMUSG00000052854
AA Change: L466P

Domain	Start	End	E-Value	Type
S_TKc	25	313	1.28e-80	SMART
low complexity region	395	410	N/A	INTRINSIC
low complexity region	516	531	N/A	INTRINSIC
low complexity region	535	565	N/A	INTRINSIC
coiled coil region	716	750	N/A	INTRINSIC
low complexity region	806	814	N/A	INTRINSIC
low complexity region	832	840	N/A	INTRINSIC
low complexity region	956	979	N/A	INTRINSIC
low complexity region	1014	1060	N/A	INTRINSIC
CNH	1133	1431	8.68e-20	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113052
AA Change: L466P

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108675
Gene: ENSMUSG00000052854
AA Change: L466P

Domain	Start	End	E-Value	Type
S_TKc	25	313	1.28e-80	SMART
low complexity region	395	410	N/A	INTRINSIC
low complexity region	516	531	N/A	INTRINSIC
low complexity region	535	565	N/A	INTRINSIC
coiled coil region	716	750	N/A	INTRINSIC
low complexity region	806	814	N/A	INTRINSIC
low complexity region	832	840	N/A	INTRINSIC
low complexity region	956	979	N/A	INTRINSIC
low complexity region	1014	1060	N/A	INTRINSIC
CNH	1133	1431	8.68e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000131829
AA Change: L466P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115962
Gene: ENSMUSG00000052854
AA Change: L466P

Domain	Start	End	E-Value	Type
S_TKc	25	313	1.28e-80	SMART
low complexity region	395	410	N/A	INTRINSIC
low complexity region	516	531	N/A	INTRINSIC
low complexity region	535	565	N/A	INTRINSIC
coiled coil region	716	750	N/A	INTRINSIC
low complexity region	806	814	N/A	INTRINSIC
low complexity region	832	840	N/A	INTRINSIC
low complexity region	956	979	N/A	INTRINSIC
low complexity region	1014	1060	N/A	INTRINSIC
Pfam:CNH	1142	1312	3.7e-30	PFAM

Meta Mutation Damage Score

0.0890

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (38/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice nullizygous for a knock-out allele exhibit partial lethality during delivery associated with enlarged placental and spongiotrophoblast layer and enduce dystocia in birthing dams. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,035,712 (GRCm39)		probably benign	Het
Bicdl2	G	A	17: 23,885,732 (GRCm39)		probably null	Het
Cables1	A	G	18: 12,072,789 (GRCm39)	D448G	possibly damaging	Het
Casq2	A	T	3: 102,051,534 (GRCm39)	N338I	probably damaging	Het
Ccr1l1	T	C	9: 123,777,553 (GRCm39)	N298S	probably damaging	Het
Dnajc17	A	G	2: 119,009,933 (GRCm39)	V231A	probably benign	Het
Ell2	T	C	13: 75,911,904 (GRCm39)	S397P	probably damaging	Het
Gm9966	T	C	7: 95,607,753 (GRCm39)	C25R	unknown	Het
H2-DMa	A	G	17: 34,356,121 (GRCm39)	N41S	probably damaging	Het
Helz2	A	G	2: 180,882,535 (GRCm39)	M86T	probably benign	Het
Il17rd	T	A	14: 26,821,510 (GRCm39)	I268N	probably damaging	Het
Ipcef1	C	T	10: 6,850,641 (GRCm39)	V317M	probably damaging	Het
Itgae	A	T	11: 73,031,513 (GRCm39)	E1076D	probably benign	Het
Kcnq5	A	T	1: 21,539,771 (GRCm39)	Y382*	probably null	Het
Kif21b	G	A	1: 136,075,612 (GRCm39)		probably benign	Het
Lilrb4a	A	T	10: 51,367,709 (GRCm39)	N84Y	probably benign	Het
Mdga2	A	G	12: 66,553,044 (GRCm39)		probably benign	Het
Naca	T	C	10: 127,877,547 (GRCm39)		probably benign	Het
Naif1	C	T	2: 32,344,887 (GRCm39)	P197L	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Pkn1	G	A	8: 84,407,867 (GRCm39)	A421V	probably benign	Het
Rusc2	A	G	4: 43,415,456 (GRCm39)	Q254R	probably benign	Het
Ryr1	G	T	7: 28,774,223 (GRCm39)	R2404S	probably damaging	Het
Selenon	T	C	4: 134,270,380 (GRCm39)	D324G	probably null	Het
Serpinh1	T	C	7: 98,998,228 (GRCm39)	Y134C	probably damaging	Het
Serpini2	T	C	3: 75,166,921 (GRCm39)	Y112C	probably damaging	Het
Setx	T	G	2: 29,038,637 (GRCm39)	C1707W	probably damaging	Het
Sit1	C	T	4: 43,483,314 (GRCm39)	R50H	possibly damaging	Het
Slc27a5	T	A	7: 12,723,487 (GRCm39)		probably benign	Het
Slc5a4b	C	T	10: 75,910,907 (GRCm39)	V310M	probably damaging	Het
Smc6	T	C	12: 11,326,294 (GRCm39)	V97A	probably damaging	Het
Ube2frt	A	G	12: 36,140,574 (GRCm39)		probably benign	Het
Usp42	T	C	5: 143,707,384 (GRCm39)		probably benign	Het
Utrn	A	T	10: 12,615,105 (GRCm39)		probably null	Het
Vmn2r82	A	G	10: 79,232,082 (GRCm39)	I694V	probably benign	Het
Vmn2r-ps69	T	C	7: 84,956,832 (GRCm39)		noncoding transcript	Het
Zfpm2	A	G	15: 40,965,719 (GRCm39)	T603A	probably benign	Het

Other mutations in Nrk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00650:Nrk	APN	X	137,873,670 (GRCm39)	missense	probably damaging	1.00
IGL02024:Nrk	APN	X	137,896,678 (GRCm39)	missense	probably damaging	1.00
IGL02043:Nrk	APN	X	137,889,544 (GRCm39)	missense	possibly damaging	0.90
IGL02395:Nrk	APN	X	137,876,935 (GRCm39)	missense	probably damaging	0.99
IGL02976:Nrk	APN	X	137,892,817 (GRCm39)	missense	probably benign	0.18
PIT1430001:Nrk	UTSW	X	137,879,463 (GRCm39)	missense	probably damaging	1.00
R1883:Nrk	UTSW	X	137,907,922 (GRCm39)	missense	probably damaging	0.98
R5174:Nrk	UTSW	X	137,887,528 (GRCm39)	missense	probably benign
R7798:Nrk	UTSW	X	137,883,426 (GRCm39)	small deletion	probably benign
X0065:Nrk	UTSW	X	137,860,434 (GRCm39)	nonsense	probably null
Z1177:Nrk	UTSW	X	137,873,557 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- CTTCAACAACTGCAGAAGGC -3'
(R):5'- GCTCAGGAACCGGATTATGTATC -3'

Sequencing Primer
(F):5'- AGGCAGCCGGAGTGTTCATG -3'
(R):5'- AACCGGATTATGTATCTGCTGC -3'

Posted On

2015-01-23