Mutagenetix > Incidental Mutation

Incidental Mutation 'R1103:Vrk2'

98284

Institutional Source

Beutler Lab

Gene Symbol

Vrk2

Ensembl Gene

ENSMUSG00000064090

Gene Name

vaccinia related kinase 2

Synonyms

2810003O05Rik

MMRRC Submission

039176-MU

Accession Numbers

Essential gene?

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

Stock #

R1103 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26421398-26544006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26499325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 76 (F76L)

Ref Sequence

ENSEMBL: ENSMUSP00000119928 (fasta)

Gene Model

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

AlphaFold

Q8BN21

Predicted Effect

probably damaging
Transcript: ENSMUST00000078362
AA Change: F76L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077471
Gene: ENSMUSG00000064090
AA Change: F76L

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 damaging
Transcript: ENSMUST00000109504
AA Change: F76L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105130
Gene: ENSMUSG00000064090
AA Change: F76L

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: F76L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119928
Gene: ENSMUSG00000064090
AA Change: F76L

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

Meta Mutation Damage Score

0.2947

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

97% (60/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
4930524J08Rik	G	A	5: 100,126,980 (GRCm39)		probably benign	Het
Adam3	T	A	8: 25,204,287 (GRCm39)		probably benign	Het
Adpgk	A	G	9: 59,221,079 (GRCm39)	H295R	probably damaging	Het
Aftph	A	T	11: 20,676,547 (GRCm39)	M199K	probably benign	Het
Ap2a1	C	A	7: 44,553,593 (GRCm39)		probably benign	Het
Atpaf2	T	C	11: 60,294,776 (GRCm39)	I216V	probably benign	Het
Bag4	A	T	8: 26,257,891 (GRCm39)		probably benign	Het
Bltp1	A	T	3: 37,050,672 (GRCm39)	M3003L	probably benign	Het
Bud23	T	C	5: 135,089,993 (GRCm39)	S67G	probably damaging	Het
Cfap157	A	G	2: 32,671,410 (GRCm39)	F132S	probably damaging	Het
Cngb3	G	A	4: 19,309,658 (GRCm39)		probably null	Het
Cntnap5a	A	G	1: 116,508,399 (GRCm39)	I1304V	possibly damaging	Het
Cp	A	G	3: 20,036,149 (GRCm39)	K764E	possibly damaging	Het
Crebbp	A	G	16: 3,901,925 (GRCm39)	V2438A	probably damaging	Het
Csmd3	A	T	15: 47,811,402 (GRCm39)	W1230R	probably damaging	Het
Cul1	G	A	6: 47,494,111 (GRCm39)	V475I	probably benign	Het
Dnttip2	T	C	3: 122,070,071 (GRCm39)	S429P	probably benign	Het
Dtwd1	T	C	2: 125,996,643 (GRCm39)	S43P	probably damaging	Het
Ect2l	T	C	10: 18,016,274 (GRCm39)	T705A	probably damaging	Het
Erbin	G	T	13: 104,022,710 (GRCm39)	T43N	probably benign	Het
Fcgbpl1	G	T	7: 27,853,945 (GRCm39)	L1636F	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Gpr150	G	T	13: 76,203,712 (GRCm39)	P411Q	probably damaging	Het
Grap	C	A	11: 61,562,544 (GRCm39)	Q172K	probably benign	Het
Ido2	G	A	8: 25,066,239 (GRCm39)	T9M	probably benign	Het
Klkb1	C	A	8: 45,729,183 (GRCm39)	C347F	probably damaging	Het
Klra17	G	A	6: 129,845,806 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,097,942 (GRCm39)	L1774P	probably damaging	Het
Lhpp	A	T	7: 132,212,484 (GRCm39)	D17V	probably damaging	Het
Lrfn4	T	C	19: 4,663,299 (GRCm39)	T412A	probably benign	Het
Lrrc7	C	T	3: 157,854,343 (GRCm39)		probably benign	Het
Ltbp3	A	T	19: 5,797,439 (GRCm39)		probably null	Het
Ltbp3	G	C	19: 5,797,440 (GRCm39)		probably null	Het
Luzp1	T	A	4: 136,268,041 (GRCm39)	L88Q	possibly damaging	Het
Magi2	T	C	5: 20,816,101 (GRCm39)	I747T	probably damaging	Het
Map1b	A	T	13: 99,563,974 (GRCm39)		probably benign	Het
Map3k4	A	T	17: 12,455,950 (GRCm39)		probably null	Het
Map3k5	C	A	10: 19,899,422 (GRCm39)	D226E	probably benign	Het
Mtf1	T	A	4: 124,732,261 (GRCm39)	S440T	probably benign	Het
Myo18a	T	A	11: 77,714,156 (GRCm39)	L389Q	probably damaging	Het
Myom2	A	G	8: 15,160,827 (GRCm39)	D900G	probably benign	Het
Nfasc	T	C	1: 132,534,795 (GRCm39)		probably benign	Het
Obscn	A	T	11: 58,912,309 (GRCm39)	S7044R	probably damaging	Het
Or5bw2	T	A	7: 6,573,111 (GRCm39)	N40K	probably damaging	Het
Or5e1	T	C	7: 108,354,090 (GRCm39)	V9A	possibly damaging	Het
Or6k4	T	C	1: 173,964,457 (GRCm39)	V49A	probably benign	Het
Pde4c	T	A	8: 71,201,066 (GRCm39)	H421Q	probably damaging	Het
Pnmt	G	T	11: 98,278,502 (GRCm39)	R156L	probably benign	Het
Pramel22	A	C	4: 143,381,942 (GRCm39)	C251W	probably damaging	Het
Rnf138	A	G	18: 21,159,159 (GRCm39)	E193G	probably damaging	Het
Sesn1	G	T	10: 41,778,589 (GRCm39)	R346L	possibly damaging	Het
Setd4	G	T	16: 93,382,082 (GRCm39)	H390Q	probably benign	Het
Supt6	T	C	11: 78,116,299 (GRCm39)	E688G	possibly damaging	Het
Syne2	G	A	12: 76,156,609 (GRCm39)	D6802N	probably benign	Het
Syt16	A	G	12: 74,313,672 (GRCm39)	K533E	probably damaging	Het
Tg	A	T	15: 66,591,504 (GRCm39)	Q26H	probably benign	Het
Trim33	G	T	3: 103,218,201 (GRCm39)	W250L	probably damaging	Het
Trip4	A	G	9: 65,788,188 (GRCm39)	C86R	probably benign	Het
Upf2	T	A	2: 6,030,986 (GRCm39)	C809S	unknown	Het
Zfp804a	A	G	2: 82,087,844 (GRCm39)	T558A	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
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
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'- GGAAACGAATTTTCCAGAAGACC -3'
(R):5'- TGCTTGTTCATGTACACAGTTCTTG -3'

Sequencing Primer
(F):5'- AACATTCGCTTGAGCAAGTG -3'
(R):5'- TGTACACAGTTCTTGGTAC -3'

Posted On

2014-01-05