Mutagenetix > Incidental Mutations

Incidental Mutation 'R8165:Vrk2'

633733

Institutional Source

Beutler Lab

Gene Symbol

Vrk2

Ensembl Gene

ENSMUSG00000064090

Gene Name

vaccinia related kinase 2

Synonyms

2810003O05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R8165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26471322-26593999 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26535575 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 138 (F138L)

Ref Sequence

ENSEMBL: ENSMUSP00000077471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078362] [ENSMUST00000109504]

Predicted Effect

probably benign
Transcript: ENSMUST00000078362
AA Change: F138L

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000077471
Gene: ENSMUSG00000064090
AA Change: F138L

Domain	Start	End	E-Value	Type
Pfam:Pkinase	29	298	4.4e-18	PFAM
Pfam:Pkinase_Tyr	29	313	2e-11	PFAM
low complexity region	365	376	N/A	INTRINSIC
transmembrane domain	480	502	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109504
AA Change: F138L

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105130
Gene: ENSMUSG00000064090
AA Change: F138L

Domain	Start	End	E-Value	Type
Pfam:Pkinase	29	302	2.8e-22	PFAM
Pfam:Pkinase_Tyr	29	313	1.3e-11	PFAM
low complexity region	365	376	N/A	INTRINSIC
transmembrane domain	480	502	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 63,897,946		probably null	Het
1110037F02Rik	T	A	4: 11,542,128	D1521E	probably benign	Het
Amph	A	G	13: 19,094,837	K161E	probably benign	Het
Aox2	A	T	1: 58,308,929	H602L	probably benign	Het
Areg	A	G	5: 91,143,633	N145S	probably damaging	Het
Arhgap29	C	T	3: 121,988,573	T142I	probably damaging	Het
Bcar3	C	T	3: 122,511,156		probably benign	Het
Brpf3	C	T	17: 28,806,274	A107V	probably benign	Het
Btnl2	T	A	17: 34,368,708	S509T	possibly damaging	Het
Cacna2d2	A	G	9: 107,525,454		probably null	Het
Casz1	C	T	4: 148,944,431	P1111L	probably damaging	Het
Ccdc91	C	T	6: 147,631,588	T411I	unknown	Het
Chd9	A	C	8: 91,041,141	E2422A	probably damaging	Het
Clrn3	T	C	7: 135,528,404	I34V	probably benign	Het
Cnksr3	C	T	10: 7,154,467	D79N	probably damaging	Het
Cops8	A	G	1: 90,612,007		probably null	Het
Cpa2	A	G	6: 30,564,346	K392R	probably benign	Het
Dnajc28	G	A	16: 91,616,907	R150*	probably null	Het
Dnase1l3	T	C	14: 7,994,299		probably benign	Het
Fam65a	C	A	8: 105,620,888	L1028M	unknown	Het
Gdpd5	A	T	7: 99,456,482	T502S	probably benign	Het
Gp2	A	T	7: 119,450,152	D387E	probably damaging	Het
Gpr179	A	G	11: 97,351,538	L160P	probably benign	Het
Hmcn1	G	A	1: 150,646,658	T3497M	probably benign	Het
Idh3b	T	A	2: 130,280,500	T322S	possibly damaging	Het
Kit	A	T	5: 75,620,880	N323I	possibly damaging	Het
Kng2	T	C	16: 22,987,496	S445G	unknown	Het
Lin54	A	G	5: 100,454,499	V393A	probably benign	Het
Lyst	T	A	13: 13,698,360	W2715R	probably damaging	Het
Mad1l1	T	C	5: 140,315,058	T28A	probably benign	Het
Med7	T	A	11: 46,441,246	C223S	probably benign	Het
Megf8	T	A	7: 25,353,873	L1823Q	probably damaging	Het
Mga	C	A	2: 119,947,238	Q1755K	probably benign	Het
Mgat4b	A	T	11: 50,210,974	N22I	probably benign	Het
Ndufb6	C	T	4: 40,270,665		probably null	Het
Neil3	A	G	8: 53,589,094	L490P	probably benign	Het
Nek9	C	T	12: 85,303,643	V886I	probably benign	Het
Nol4l	A	T	2: 153,420,553	Y366*	probably null	Het
Nt5dc2	A	G	14: 31,138,929	T354A	probably damaging	Het
Olfr339	T	A	2: 36,421,703	Y102N	probably damaging	Het
Pde2a	G	A	7: 101,500,448		probably null	Het
Phf1	T	C	17: 26,937,070	F444L	possibly damaging	Het
Plin4	G	A	17: 56,107,019	T202I	possibly damaging	Het
Plk4	G	C	3: 40,813,574	V851L	probably damaging	Het
Pp2d1	A	G	17: 53,515,229	S270P	probably damaging	Het
Scn9a	A	G	2: 66,540,530	F569L	probably damaging	Het
Sel1l2	T	A	2: 140,262,706	L306F	probably damaging	Het
Spic	A	T	10: 88,677,566	S86T	probably damaging	Het
Stkld1	A	G	2: 26,946,656	N278S	probably benign	Het
Taar7d	T	A	10: 24,027,597	F126I	probably benign	Het
Tbc1d31	A	G	15: 57,960,949	E869G	possibly damaging	Het
Tbcd	C	T	11: 121,493,885	T315M	probably benign	Het
Terf2	T	C	8: 107,083,024	K221E	possibly damaging	Het
Tex43	T	A	18: 56,589,475		probably benign	Het
Thsd7a	T	A	6: 12,468,963	T539S		Het
Tll2	A	G	19: 41,088,874	F818L	possibly damaging	Het
Tmem87a	T	C	2: 120,370,478	T427A	possibly damaging	Het
Ush2a	C	A	1: 188,451,755	Q1419K	possibly damaging	Het
Vill	T	A	9: 119,066,753	F511Y	probably damaging	Het
Vps13c	A	G	9: 67,858,790	D63G	probably benign	Het
Zfp710	T	C	7: 80,086,027	I514T	probably damaging	Het
Zgrf1	T	A	3: 127,563,383	F753I	possibly damaging	Het

Other mutations in Vrk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01865:Vrk2	APN	11	26535560	missense	possibly damaging	0.73
IGL02011:Vrk2	APN	11	26471717	missense	probably benign	0.10
IGL02185:Vrk2	APN	11	26535638	nonsense	probably null
IGL02257:Vrk2	APN	11	26534266	missense	probably damaging	1.00
IGL02424:Vrk2	APN	11	26476564	missense	probably benign	0.00
macromacro	UTSW	11	26549325	missense	probably damaging	1.00
R0127:Vrk2	UTSW	11	26534313	splice site	probably benign
R0184:Vrk2	UTSW	11	26550046	missense	probably damaging	0.98
R0670:Vrk2	UTSW	11	26486959	critical splice donor site	probably null
R0751:Vrk2	UTSW	11	26483331	splice site	probably benign
R0766:Vrk2	UTSW	11	26535522	splice site	probably benign
R1103:Vrk2	UTSW	11	26549325	missense	probably damaging	1.00
R1184:Vrk2	UTSW	11	26483331	splice site	probably benign
R1312:Vrk2	UTSW	11	26535522	splice site	probably benign
R2041:Vrk2	UTSW	11	26547914	missense	probably benign	0.01
R2857:Vrk2	UTSW	11	26483324	missense	possibly damaging	0.54
R2859:Vrk2	UTSW	11	26483324	missense	possibly damaging	0.54
R3615:Vrk2	UTSW	11	26489866	missense	possibly damaging	0.90
R3616:Vrk2	UTSW	11	26489866	missense	possibly damaging	0.90
R4163:Vrk2	UTSW	11	26547915	missense	probably benign	0.00
R4651:Vrk2	UTSW	11	26489803	missense	probably damaging	0.98
R4652:Vrk2	UTSW	11	26489803	missense	probably damaging	0.98
R4662:Vrk2	UTSW	11	26471611	missense	possibly damaging	0.95
R5262:Vrk2	UTSW	11	26591697	missense	possibly damaging	0.94
R5458:Vrk2	UTSW	11	26498919	missense	probably damaging	0.99
R5529:Vrk2	UTSW	11	26499036	missense	probably damaging	1.00
R5840:Vrk2	UTSW	11	26534314	splice site	probably benign
R5892:Vrk2	UTSW	11	26534372	intron	probably benign
R6054:Vrk2	UTSW	11	26486975	missense	probably benign	0.20
R6923:Vrk2	UTSW	11	26489893	missense	probably damaging	1.00
R6952:Vrk2	UTSW	11	26535597	missense	probably damaging	0.97
R7841:Vrk2	UTSW	11	26471457	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCTGGTAGCAATAGTCAGC -3'
(R):5'- ACAGCTGCTTAGATGCCTTGG -3'

Sequencing Primer
(F):5'- ACAGCATAGCCTGTCATTGG -3'
(R):5'- AGATGCCTTGGCTATTAGGTAGAAG -3'

Posted On

2020-07-13