Mutagenetix > Incidental Mutation

Incidental Mutation 'R6054:Vrk2'

484317

Institutional Source

Beutler Lab

Gene Symbol

Vrk2

Ensembl Gene

ENSMUSG00000064090

Gene Name

vaccinia related kinase 2

Synonyms

2810003O05Rik

MMRRC Submission

044222-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R6054 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26421398-26544006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26436975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 281 (S281T)

Ref Sequence

ENSEMBL: ENSMUSP00000105130 (fasta)

Gene Model

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

AlphaFold

Q8BN21

Predicted Effect

probably benign
Transcript: ENSMUST00000078362
AA Change: S281T

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000077471
Gene: ENSMUSG00000064090
AA Change: S281T

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: S281T

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105130
Gene: ENSMUSG00000064090
AA Change: S281T

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: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

Validation Efficiency

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
4930562C15Rik	T	C	16: 4,653,729 (GRCm39)	S93P	unknown	Het
Adam28	T	A	14: 68,879,601 (GRCm39)	N149I	probably benign	Het
Adam4	A	C	12: 81,466,828 (GRCm39)	F598V	probably damaging	Het
Adh5	A	G	3: 138,151,136 (GRCm39)	H33R	possibly damaging	Het
Apoh	A	G	11: 108,286,801 (GRCm39)	N75S	probably damaging	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atm	T	C	9: 53,371,173 (GRCm39)	D2225G	probably damaging	Het
Atp6v0a1	C	T	11: 100,930,715 (GRCm39)	P514L	possibly damaging	Het
Brd9	T	A	13: 74,088,860 (GRCm39)	M195K	probably damaging	Het
Cacna1a	T	G	8: 85,283,414 (GRCm39)	S755A	probably damaging	Het
Ccdc85c	T	A	12: 108,241,028 (GRCm39)	H122L	unknown	Het
Ccs	A	T	19: 4,875,893 (GRCm39)	D192E	probably benign	Het
Cd3e	G	A	9: 44,913,459 (GRCm39)	T92M	possibly damaging	Het
Celsr2	A	G	3: 108,314,279 (GRCm39)	F1249L	possibly damaging	Het
Col16a1	G	A	4: 129,955,515 (GRCm39)		probably benign	Het
Col17a1	A	G	19: 47,668,859 (GRCm39)	Y122H	probably damaging	Het
Col28a1	G	A	6: 8,083,748 (GRCm39)	P570S	possibly damaging	Het
Dchs2	A	T	3: 83,253,543 (GRCm39)	I2318L	probably benign	Het
Dhx35	T	A	2: 158,660,219 (GRCm39)	Y184N	probably benign	Het
Dmxl1	T	G	18: 49,990,453 (GRCm39)	N297K	probably benign	Het
Dsp	G	A	13: 38,351,585 (GRCm39)	G135S	probably benign	Het
Efhb	C	T	17: 53,706,027 (GRCm39)	V837I	possibly damaging	Het
Efs	C	T	14: 55,158,614 (GRCm39)	D15N	probably damaging	Het
Fbxl19	C	T	7: 127,351,681 (GRCm39)	T314I	probably damaging	Het
Gm11595	A	T	11: 99,663,474 (GRCm39)	C69S	unknown	Het
Grxcr2	A	G	18: 42,119,743 (GRCm39)	V199A	probably benign	Het
Hadha	T	C	5: 30,328,682 (GRCm39)	E468G	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hps1	A	T	19: 42,759,217 (GRCm39)	V125E	probably damaging	Het
Hrg	A	T	16: 22,772,412 (GRCm39)	T74S	probably benign	Het
Idh3a	T	C	9: 54,493,829 (GRCm39)		probably null	Het
Leng8	C	A	7: 4,148,522 (GRCm39)		probably null	Het
Maml2	TCAGCAGCAGCAGCAGCAGC	TCAGCAGCAGCAGCAGC	9: 13,532,695 (GRCm39)		probably benign	Het
Mctp2	T	C	7: 71,908,851 (GRCm39)	H154R	probably benign	Het
Megf6	A	G	4: 154,347,636 (GRCm39)	E777G	probably benign	Het
Miip	A	G	4: 147,950,135 (GRCm39)	S154P	probably benign	Het
Mprip	T	C	11: 59,649,251 (GRCm39)	V985A	probably benign	Het
Nmrk2	G	A	10: 81,035,468 (GRCm39)	R158W	probably damaging	Het
Nsd2	T	C	5: 34,039,505 (GRCm39)	S180P	probably damaging	Het
Oga	A	G	19: 45,764,571 (GRCm39)	S190P	probably damaging	Het
Opa1	T	G	16: 29,433,952 (GRCm39)	S596A	probably damaging	Het
Or1ad1	G	A	11: 50,875,631 (GRCm39)	M34I	probably benign	Het
Or51b4	A	G	7: 103,531,033 (GRCm39)	V139A	probably damaging	Het
Pcdha2	A	G	18: 37,073,857 (GRCm39)	E496G	probably damaging	Het
Pcdhb5	T	G	18: 37,454,133 (GRCm39)	V171G	probably damaging	Het
Pramel6	A	G	2: 87,339,003 (GRCm39)	T68A	probably benign	Het
Ptprq	T	C	10: 107,418,219 (GRCm39)	Y1719C	probably damaging	Het
Pzp	T	C	6: 128,490,727 (GRCm39)	N412S	probably benign	Het
Rb1cc1	G	T	1: 6,320,058 (GRCm39)	R1159L	probably benign	Het
Rev3l	T	A	10: 39,700,146 (GRCm39)	S1548T	probably benign	Het
Rora	A	G	9: 69,286,084 (GRCm39)	I471M	probably benign	Het
Scube1	C	A	15: 83,535,877 (GRCm39)	V266L	probably benign	Het
Sema6a	C	T	18: 47,416,470 (GRCm39)	D386N	possibly damaging	Het
Siglecf	T	A	7: 43,004,430 (GRCm39)	L253Q	probably damaging	Het
Spata31d1b	A	G	13: 59,863,464 (GRCm39)	H204R	probably benign	Het
Syt17	T	C	7: 118,007,356 (GRCm39)	T313A	possibly damaging	Het
Tbc1d32	T	C	10: 56,038,304 (GRCm39)	T578A	possibly damaging	Het
Trpm1	A	G	7: 63,918,450 (GRCm39)	S597G	probably benign	Het
Vmn2r9	T	A	5: 108,996,126 (GRCm39)	H174L	probably damaging	Het
Wdr48	A	G	9: 119,736,843 (GRCm39)	D22G	probably damaging	Het
Zfp408	C	A	2: 91,479,636 (GRCm39)	V61L	probably benign	Het
Zfp652	G	A	11: 95,640,689 (GRCm39)	A205T	probably benign	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
R0184:Vrk2	UTSW	11	26,500,046 (GRCm39)	missense	probably damaging	0.98
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
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'- ATAAGAGCTGGGCAGTTCCTG -3'
(R):5'- CTGACCAATAAGAACTAAGGAATGC -3'

Sequencing Primer
(F):5'- TGGAGCACCACCGTTTTG -3'
(R):5'- AATCCTCCTATCCACTACAGTTGGG -3'

Posted On

2017-07-14