Mutagenetix > Incidental Mutation

Incidental Mutation 'R0184:Vrk2'

23982

Institutional Source

Beutler Lab

Gene Symbol

Vrk2

Ensembl Gene

ENSMUSG00000064090

Gene Name

vaccinia related kinase 2

Synonyms

2810003O05Rik

MMRRC Submission

038449-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R0184 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

26421398-26544006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26500046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 56 (A56S)

Ref Sequence

ENSEMBL: ENSMUSP00000119928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078362] [ENSMUST00000109504] [ENSMUST00000156264]

AlphaFold

Q8BN21

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078362
AA Change: A56S

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000077471
Gene: ENSMUSG00000064090
AA Change: A56S

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: A56S

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105130
Gene: ENSMUSG00000064090
AA Change: A56S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155728

Predicted Effect

probably damaging
Transcript: ENSMUST00000156264
AA Change: A56S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119928
Gene: ENSMUSG00000064090
AA Change: A56S

Domain	Start	End	E-Value	Type
PDB:2V62\|B	13	111	7e-56	PDB

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.9%

Validation Efficiency

66% (50/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,212,899 (GRCm39)	V131F	probably damaging	Het
Adam28	T	C	14: 68,874,822 (GRCm39)	D285G	probably benign	Het
Akr1c13	A	G	13: 4,244,055 (GRCm39)	E36G	probably damaging	Het
Antxr2	A	G	5: 98,127,889 (GRCm39)	L214S	probably damaging	Het
Arhgap26	T	A	18: 38,750,726 (GRCm39)	D46E	unknown	Het
Armc9	T	C	1: 86,126,092 (GRCm39)	L61P	probably damaging	Het
Bicc1	C	A	10: 70,915,045 (GRCm39)	R73L	probably benign	Het
Calm2	T	C	17: 87,743,269 (GRCm39)	N43S	probably benign	Het
Cct7	A	G	6: 85,438,536 (GRCm39)	D105G	probably null	Het
Cdk18	T	C	1: 132,046,276 (GRCm39)	N215D	probably benign	Het
Cep126	T	C	9: 8,103,396 (GRCm39)	T205A	probably benign	Het
Cfap57	A	T	4: 118,456,209 (GRCm39)	I495N	probably damaging	Het
Cyp2b9	T	A	7: 25,886,432 (GRCm39)	C152*	probably null	Het
Dab2ip	G	A	2: 35,608,803 (GRCm39)	R579H	probably damaging	Het
Dnah8	T	C	17: 30,902,657 (GRCm39)	V905A	probably benign	Het
Eif4h	C	A	5: 134,654,229 (GRCm39)	D134Y	possibly damaging	Het
Espl1	T	A	15: 102,207,651 (GRCm39)	S372T	probably benign	Het
Fat2	T	A	11: 55,187,114 (GRCm39)	H1244L	probably damaging	Het
Fbxo11	T	A	17: 88,316,101 (GRCm39)	N443I	probably benign	Het
Git2	G	A	5: 114,877,098 (GRCm39)	T128M	possibly damaging	Het
Gm10985	T	A	3: 53,752,679 (GRCm39)	Y21N	probably damaging	Het
Gm12790	A	T	4: 101,824,811 (GRCm39)	Y152*	probably null	Het
Heatr5a	T	C	12: 51,956,752 (GRCm39)	D1115G	probably benign	Het
Hipk2	T	C	6: 38,695,866 (GRCm39)	N726S	possibly damaging	Het
Hrg	T	C	16: 22,772,521 (GRCm39)		probably null	Het
Iars1	T	G	13: 49,875,688 (GRCm39)	S792A	probably benign	Het
Igf1r	A	G	7: 67,875,941 (GRCm39)	N1301S	possibly damaging	Het
Il22	A	T	10: 118,041,511 (GRCm39)	I75F	probably damaging	Het
Ilkap	T	C	1: 91,304,027 (GRCm39)		probably benign	Het
Ints13	A	T	6: 146,456,542 (GRCm39)	Y435N	probably benign	Het
Ints8	A	C	4: 11,218,637 (GRCm39)	S797A	probably benign	Het
Itgad	T	A	7: 127,788,403 (GRCm39)	D405E	probably benign	Het
Itgam	A	T	7: 127,685,230 (GRCm39)	I448F	probably damaging	Het
Klk1	C	T	7: 43,878,173 (GRCm39)	T41I	possibly damaging	Het
Mcrip1	T	C	11: 120,435,710 (GRCm39)	M1V	probably null	Het
Mdga1	A	G	17: 30,071,416 (GRCm39)	Y128H	probably damaging	Het
Mtor	G	T	4: 148,549,428 (GRCm39)	R604L	probably benign	Het
Or52p1	T	C	7: 104,267,447 (GRCm39)	V187A	probably damaging	Het
Or5d41	A	T	2: 88,055,124 (GRCm39)	L84*	probably null	Het
Pcdhb7	T	A	18: 37,476,443 (GRCm39)	D526E	probably benign	Het
Pip4k2a	T	C	2: 18,893,939 (GRCm39)	D139G	probably damaging	Het
Pkp3	A	C	7: 140,668,280 (GRCm39)	N536T	probably benign	Het
Pla2g4c	T	A	7: 13,090,145 (GRCm39)	S524T	probably benign	Het
Pno1	T	C	11: 17,161,127 (GRCm39)	E69G	probably benign	Het
Pold1	C	T	7: 44,191,139 (GRCm39)	V231M	probably benign	Het
Poli	A	G	18: 70,655,802 (GRCm39)	S248P	probably damaging	Het
Ppox	C	T	1: 171,107,126 (GRCm39)	S138N	probably damaging	Het
Psg20	T	C	7: 18,419,901 (GRCm39)	E6G	probably null	Het
Rbmx	C	T	X: 56,436,926 (GRCm39)		probably null	Het
Rln1	T	A	19: 29,309,336 (GRCm39)	K148*	probably null	Het
Rnf213	C	T	11: 119,305,347 (GRCm39)	T526I	probably damaging	Het
Rps6kc1	A	T	1: 190,531,290 (GRCm39)	V904E	probably null	Het
Sf3b2	T	A	19: 5,333,700 (GRCm39)	I633F	probably damaging	Het
Sfswap	T	A	5: 129,584,253 (GRCm39)	I189N	probably damaging	Het
Smarca2	T	A	19: 26,669,649 (GRCm39)	Y973*	probably null	Het
Spink5	G	A	18: 44,136,265 (GRCm39)	D559N	probably benign	Het
Spty2d1	C	T	7: 46,647,322 (GRCm39)	V536I	possibly damaging	Het
Tbx3	T	C	5: 119,813,627 (GRCm39)	I221T	probably damaging	Het
Tcf20	T	A	15: 82,736,501 (GRCm39)	D1650V	probably damaging	Het
Thsd7b	A	G	1: 129,358,701 (GRCm39)	K45R	probably benign	Het
Tirap	A	G	9: 35,100,490 (GRCm39)	S65P	probably benign	Het
Trim25	C	T	11: 88,890,466 (GRCm39)	P51L	probably damaging	Het
Trim61	T	C	8: 65,467,069 (GRCm39)	N64S	probably benign	Het
Twf1	T	A	15: 94,478,948 (GRCm39)		probably null	Het
Ubr4	A	C	4: 139,172,573 (GRCm39)	T1692P	probably damaging	Het
Usp3	A	G	9: 66,469,863 (GRCm39)	M86T	probably damaging	Het
Utrn	T	C	10: 12,543,362 (GRCm39)	D1762G	probably benign	Het
V1rd19	T	A	7: 23,702,632 (GRCm39)	F33I	probably benign	Het
Vmn2r52	T	C	7: 9,893,265 (GRCm39)	S625G	probably damaging	Het
Vmn2r90	G	A	17: 17,947,139 (GRCm39)	W472*	probably null	Het
Yeats2	C	T	16: 20,022,435 (GRCm39)	P620S	possibly damaging	Het
Zbtb21	C	T	16: 97,751,713 (GRCm39)	D171N	probably damaging	Het
Zeb1	A	T	18: 5,766,808 (GRCm39)	I440F	probably damaging	Het
Zfp292	A	G	4: 34,819,563 (GRCm39)	I253T	probably damaging	Het

Other mutations in Vrk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01865:Vrk2	APN	11	26,485,560 (GRCm39)	missense	possibly damaging	0.73
IGL02011:Vrk2	APN	11	26,421,717 (GRCm39)	missense	probably benign	0.10
IGL02185:Vrk2	APN	11	26,485,638 (GRCm39)	nonsense	probably null
IGL02257:Vrk2	APN	11	26,484,266 (GRCm39)	missense	probably damaging	1.00
IGL02424:Vrk2	APN	11	26,426,564 (GRCm39)	missense	probably benign	0.00
macromacro	UTSW	11	26,499,325 (GRCm39)	missense	probably damaging	1.00
R0127:Vrk2	UTSW	11	26,484,313 (GRCm39)	splice site	probably benign
R0670:Vrk2	UTSW	11	26,436,959 (GRCm39)	critical splice donor site	probably null
R0751:Vrk2	UTSW	11	26,433,331 (GRCm39)	splice site	probably benign
R0766:Vrk2	UTSW	11	26,485,522 (GRCm39)	splice site	probably benign
R1103:Vrk2	UTSW	11	26,499,325 (GRCm39)	missense	probably damaging	1.00
R1184:Vrk2	UTSW	11	26,433,331 (GRCm39)	splice site	probably benign
R1312:Vrk2	UTSW	11	26,485,522 (GRCm39)	splice site	probably benign
R2041:Vrk2	UTSW	11	26,497,914 (GRCm39)	missense	probably benign	0.01
R2857:Vrk2	UTSW	11	26,433,324 (GRCm39)	missense	possibly damaging	0.54
R2859:Vrk2	UTSW	11	26,433,324 (GRCm39)	missense	possibly damaging	0.54
R3615:Vrk2	UTSW	11	26,439,866 (GRCm39)	missense	possibly damaging	0.90
R3616:Vrk2	UTSW	11	26,439,866 (GRCm39)	missense	possibly damaging	0.90
R4163:Vrk2	UTSW	11	26,497,915 (GRCm39)	missense	probably benign	0.00
R4651:Vrk2	UTSW	11	26,439,803 (GRCm39)	missense	probably damaging	0.98
R4652:Vrk2	UTSW	11	26,439,803 (GRCm39)	missense	probably damaging	0.98
R4662:Vrk2	UTSW	11	26,421,611 (GRCm39)	missense	possibly damaging	0.95
R5262:Vrk2	UTSW	11	26,541,697 (GRCm39)	missense	possibly damaging	0.94
R5458:Vrk2	UTSW	11	26,448,919 (GRCm39)	missense	probably damaging	0.99
R5529:Vrk2	UTSW	11	26,449,036 (GRCm39)	missense	probably damaging	1.00
R5840:Vrk2	UTSW	11	26,484,314 (GRCm39)	splice site	probably benign
R5892:Vrk2	UTSW	11	26,484,372 (GRCm39)	intron	probably benign
R6054:Vrk2	UTSW	11	26,436,975 (GRCm39)	missense	probably benign	0.20
R6923:Vrk2	UTSW	11	26,439,893 (GRCm39)	missense	probably damaging	1.00
R6952:Vrk2	UTSW	11	26,485,597 (GRCm39)	missense	probably damaging	0.97
R7841:Vrk2	UTSW	11	26,421,457 (GRCm39)	missense	probably damaging	1.00
R8165:Vrk2	UTSW	11	26,485,575 (GRCm39)	missense	probably benign	0.21
R9074:Vrk2	UTSW	11	26,543,917 (GRCm39)	intron	probably benign
R9583:Vrk2	UTSW	11	26,433,157 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTATGCACAGGGCACATGAAC -3'
(R):5'- CAGAAACATGGCTCATTTGGGCAAC -3'

Sequencing Primer
(F):5'- TTAGAGCCTCAGTGCCTAGAG -3'
(R):5'- CCACTCTGATGTGGATGTAAGAAC -3'

Posted On

2013-04-16