Mutagenetix > Incidental Mutation

Incidental Mutation 'R3616:Vrk2'

473032

Institutional Source

Beutler Lab

Gene Symbol

Vrk2

Ensembl Gene

ENSMUSG00000064090

Gene Name

vaccinia related kinase 2

Synonyms

2810003O05Rik

MMRRC Submission

040673-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R3616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26471322-26593999 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26489866 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 235 (I235T)

Ref Sequence

ENSEMBL: ENSMUSP00000105130 (fasta)

Gene Model

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

AlphaFold

Q8BN21

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078362
AA Change: I235T

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077471
Gene: ENSMUSG00000064090
AA Change: I235T

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

possibly damaging
Transcript: ENSMUST00000109504
AA Change: I235T

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105130
Gene: ENSMUSG00000064090
AA Change: I235T

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

Meta Mutation Damage Score

0.3032

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (29/29)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,864	N399S	probably benign	Het
A2ml1	T	C	6: 128,558,294	T818A	probably benign	Het
Aasdh	A	G	5: 76,888,782	V304A	probably benign	Het
Angptl3	G	A	4: 99,034,465	A248T	probably benign	Het
Ap2b1	T	A	11: 83,324,565	C112S	possibly damaging	Het
Aqr	A	T	2: 114,136,887	I549N	probably damaging	Het
Barhl1	C	T	2: 28,911,550	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942	V821A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dnah1	A	G	14: 31,315,148	L247P	possibly damaging	Het
Dpysl2	T	A	14: 66,834,370	H107L	probably damaging	Het
Dzip3	A	G	16: 48,937,063	L869S	probably damaging	Het
Efs	T	C	14: 54,920,095	Y160C	probably damaging	Het
Enam	A	T	5: 88,504,447	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam184b	A	G	5: 45,582,815	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,743,760	Y105*	probably null	Het
Fiz1	A	G	7: 5,008,172	L449P	probably benign	Het
Foxi2	T	A	7: 135,410,451	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,944,957	R212Q	probably damaging	Het
Gm5105	C	A	3: 138,049,688	A46S	unknown	Het
Gm597	T	C	1: 28,776,575	D792G	probably benign	Het
Grik5	C	T	7: 25,022,571	A581T	probably benign	Het
Gse1	C	G	8: 120,572,742		probably benign	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Kif1b	A	T	4: 149,262,283		probably benign	Het
Krt25	A	C	11: 99,317,298	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,033,287	V269A	probably benign	Het
Lamc1	T	C	1: 153,251,150	K417E	probably damaging	Het
Miip	A	G	4: 147,865,914	M75T	probably benign	Het
Nlrp10	A	G	7: 108,924,476	F599S	probably benign	Het
Nlrp12	T	A	7: 3,240,575	M436L	probably benign	Het
Olfr142	T	C	2: 90,252,409	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Pard6b	T	C	2: 168,087,339		probably benign	Het
Pla2g2e	G	A	4: 138,880,374	V22I	probably benign	Het
Plekhd1	A	G	12: 80,717,270	E202G	probably damaging	Het
Prss21	A	G	17: 23,872,831	T258A	probably benign	Het
Prss34	A	G	17: 25,298,846	E65G	probably benign	Het
Psap	A	G	10: 60,294,603	N149S	probably benign	Het
Ptprf	C	T	4: 118,237,883	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520	L12P	probably damaging	Het
Sf3b3	A	G	8: 110,844,523	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,137,705	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,653,570	L397Q	probably damaging	Het
Smg5	A	G	3: 88,336,451	S10G	possibly damaging	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Tas2r102	C	T	6: 132,762,818	Q230*	probably null	Het
Tdo2	A	G	3: 81,975,428	Y13H	possibly damaging	Het
Tmem231	C	T	8: 111,918,313	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,545,579	M254T	probably damaging	Het
Trpm1	G	A	7: 64,243,570	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,164,838	K347N	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Vash2	T	C	1: 190,970,419	Y117C	probably damaging	Het
Wdr20	A	G	12: 110,793,939	T420A	probably benign	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
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
R8165:Vrk2	UTSW	11	26535575	missense	probably benign	0.21
R9074:Vrk2	UTSW	11	26593917	intron	probably benign
R9583:Vrk2	UTSW	11	26483157	critical splice donor site	probably null

Predicted Primers

Posted On

2017-04-14