Mutagenetix > Incidental Mutation

Incidental Mutation 'R4357:Vrk3'

324607

Institutional Source

Beutler Lab

Gene Symbol

Vrk3

Ensembl Gene

ENSMUSG00000002205

Gene Name

vaccinia related kinase 3

Synonyms

MMRRC Submission

041109-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4357 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44398049-44426939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44424866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 427 (T427M)

Ref Sequence

ENSEMBL: ENSMUSP00000002275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002275] [ENSMUST00000147952]

AlphaFold

Q8K3G5

Predicted Effect

probably benign
Transcript: ENSMUST00000002275
AA Change: T427M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000002275
Gene: ENSMUSG00000002205
AA Change: T427M

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	212	432	3.2e-8	PFAM
Pfam:Pkinase	218	432	4.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147952

SMART Domains

Protein: ENSMUSP00000130331
Gene: ENSMUSG00000002205

Domain	Start	End	E-Value	Type
Pfam:zf-ribbon_3	1	26	1.1e-11	PFAM
Pfam:zinc_ribbon_2	4	26	2.9e-10	PFAM
PDB:2JII\|B	117	162	1e-8	PDB

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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. In both human and mouse, this gene has substitutions at several residues within the ATP binding motifs that in other kinases have been shown to be required for catalysis. In vitro assays indicate the protein lacks phosphorylation activity. The protein, however, likely retains its substrate binding capability. This gene is widely expressed in human tissues and its protein localizes to the nucleus. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display impaired social behavior, decreased fear and anxiety relate behavior, impaired spatial memory, and abnormal hippocampal dendritic spine and synapse morphologies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	G	8: 41,248,084 (GRCm39)	T65A	possibly damaging	Het
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
Ap4m1	A	G	5: 138,171,311 (GRCm39)	E125G	probably damaging	Het
Atp13a2	C	A	4: 140,729,215 (GRCm39)	D599E	probably benign	Het
Brme1	T	C	8: 84,886,221 (GRCm39)	L59P	probably benign	Het
Camkv	G	A	9: 107,825,145 (GRCm39)	G354E	probably benign	Het
Casp8ap2	T	A	4: 32,646,150 (GRCm39)	M1741K	probably benign	Het
Chtf18	T	C	17: 25,938,106 (GRCm39)	D119G	probably benign	Het
Cnga1	T	A	5: 72,775,595 (GRCm39)	D42V	probably damaging	Het
Cysltr2	T	C	14: 73,267,084 (GRCm39)	I209V	probably benign	Het
Defa27	A	T	8: 21,805,608 (GRCm39)	Q16L	probably null	Het
Dnaja3	T	C	16: 4,517,731 (GRCm39)	I321T	probably damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eif2ak3	T	A	6: 70,861,859 (GRCm39)	I467N	probably damaging	Het
Eif5b	T	A	1: 38,089,339 (GRCm39)	V1105E	probably damaging	Het
Gfod2	T	C	8: 106,444,177 (GRCm39)	N122S	possibly damaging	Het
Gm10803	A	G	2: 93,394,350 (GRCm39)	R41G	unknown	Het
Gm38392	A	T	3: 88,154,741 (GRCm39)	I221N	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hsd17b6	G	T	10: 127,829,637 (GRCm39)		probably null	Het
Ids	C	A	X: 69,389,950 (GRCm39)	G506C	probably damaging	Het
Ifna15	G	T	4: 88,476,079 (GRCm39)	T135N	probably benign	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Kif24	A	G	4: 41,413,827 (GRCm39)		probably null	Het
Lats2	A	G	14: 57,936,840 (GRCm39)	S550P	probably damaging	Het
Lmo7	A	G	14: 102,125,091 (GRCm39)	R406G	probably null	Het
Lpcat2	C	A	8: 93,599,734 (GRCm39)	P234Q	probably benign	Het
Lrp10	C	T	14: 54,705,823 (GRCm39)	R338C	probably damaging	Het
Lrrfip2	A	G	9: 111,028,755 (GRCm39)	E326G	probably damaging	Het
Megf8	T	A	7: 25,055,174 (GRCm39)	I1969N	probably benign	Het
Mib1	A	G	18: 10,751,844 (GRCm39)	N242S	probably benign	Het
Ngf	A	G	3: 102,427,521 (GRCm39)	E94G	probably benign	Het
Oas2	C	T	5: 120,876,734 (GRCm39)		probably null	Het
Odf2	A	G	2: 29,782,256 (GRCm39)	T75A	probably benign	Het
Or4f60	A	G	2: 111,902,583 (GRCm39)	L115P	probably damaging	Het
Or5w11	T	A	2: 87,458,810 (GRCm39)	M1K	probably null	Het
Pi4ka	T	A	16: 17,185,303 (GRCm39)	I266F	probably benign	Het
Prps2	T	A	X: 166,146,545 (GRCm39)	K176*	probably null	Het
Psmd2	T	G	16: 20,475,402 (GRCm39)	D393E	probably benign	Het
Rabep2	A	G	7: 126,047,397 (GRCm39)	I753T	probably damaging	Het
Rara	A	C	11: 98,858,937 (GRCm39)	I129L	probably damaging	Het
Rasgrf2	C	A	13: 92,038,796 (GRCm39)	D1017Y	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Spmip4	T	C	6: 50,551,190 (GRCm39)	T420A	probably benign	Het
Spsb1	T	C	4: 149,991,232 (GRCm39)	H112R	probably damaging	Het
Sptlc1	A	T	13: 53,528,068 (GRCm39)	I32K	probably damaging	Het
Srd5a3	T	A	5: 76,295,547 (GRCm39)	F79Y	probably damaging	Het
Ssrp1	A	T	2: 84,871,495 (GRCm39)	M306L	probably benign	Het
Sulf2	T	C	2: 165,919,497 (GRCm39)	E817G	probably benign	Het
Tiam2	C	A	17: 3,501,128 (GRCm39)	D922E	probably damaging	Het
Tle4	A	G	19: 14,445,625 (GRCm39)	V207A	probably benign	Het
Ttll12	A	T	15: 83,465,958 (GRCm39)	C413S	probably damaging	Het
Usp45	T	A	4: 21,834,350 (GRCm39)	Y809*	probably null	Het
Vmn2r59	G	A	7: 41,661,644 (GRCm39)	P724S	probably damaging	Het

Other mutations in Vrk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Vrk3	APN	7	44,419,071 (GRCm39)	missense	probably damaging	1.00
IGL01540:Vrk3	APN	7	44,416,568 (GRCm39)	missense	probably damaging	1.00
IGL02682:Vrk3	APN	7	44,403,244 (GRCm39)	missense	probably benign	0.19
R0462:Vrk3	UTSW	7	44,413,624 (GRCm39)	missense	possibly damaging	0.77
R0831:Vrk3	UTSW	7	44,414,227 (GRCm39)	missense	probably damaging	1.00
R1760:Vrk3	UTSW	7	44,417,895 (GRCm39)	missense	probably damaging	0.98
R2212:Vrk3	UTSW	7	44,424,866 (GRCm39)	missense	probably benign	0.00
R2289:Vrk3	UTSW	7	44,424,866 (GRCm39)	missense	probably benign	0.00
R2915:Vrk3	UTSW	7	44,424,866 (GRCm39)	missense	probably benign	0.00
R3027:Vrk3	UTSW	7	44,424,866 (GRCm39)	missense	probably benign	0.00
R3028:Vrk3	UTSW	7	44,424,866 (GRCm39)	missense	probably benign	0.00
R3416:Vrk3	UTSW	7	44,424,866 (GRCm39)	missense	probably benign	0.00
R3417:Vrk3	UTSW	7	44,424,866 (GRCm39)	missense	probably benign	0.00
R3613:Vrk3	UTSW	7	44,424,866 (GRCm39)	missense	probably benign	0.00
R3877:Vrk3	UTSW	7	44,412,460 (GRCm39)	splice site	probably null
R4359:Vrk3	UTSW	7	44,424,866 (GRCm39)	missense	probably benign	0.00
R4379:Vrk3	UTSW	7	44,424,866 (GRCm39)	missense	probably benign	0.00
R4381:Vrk3	UTSW	7	44,424,866 (GRCm39)	missense	probably benign	0.00
R4439:Vrk3	UTSW	7	44,424,866 (GRCm39)	missense	probably benign	0.00
R4441:Vrk3	UTSW	7	44,424,866 (GRCm39)	missense	probably benign	0.00
R4773:Vrk3	UTSW	7	44,424,900 (GRCm39)	missense	probably benign
R5222:Vrk3	UTSW	7	44,409,220 (GRCm39)	missense	possibly damaging	0.67
R5808:Vrk3	UTSW	7	44,409,298 (GRCm39)	missense	probably damaging	0.96
R6180:Vrk3	UTSW	7	44,419,035 (GRCm39)	missense	possibly damaging	0.50
R7007:Vrk3	UTSW	7	44,407,187 (GRCm39)	missense	probably damaging	0.97
R7058:Vrk3	UTSW	7	44,417,890 (GRCm39)	missense	probably damaging	0.98
R7425:Vrk3	UTSW	7	44,420,348 (GRCm39)	critical splice donor site	probably null
R7995:Vrk3	UTSW	7	44,413,585 (GRCm39)	missense	probably damaging	1.00
R8804:Vrk3	UTSW	7	44,407,270 (GRCm39)	nonsense	probably null
R9123:Vrk3	UTSW	7	44,407,254 (GRCm39)	missense	possibly damaging	0.94
R9330:Vrk3	UTSW	7	44,424,910 (GRCm39)	missense	probably damaging	0.98
R9681:Vrk3	UTSW	7	44,403,356 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTGATGCTTCCCACACCGAC -3'
(R):5'- CTGAATTCCAGCTCTTGAATTGAC -3'

Sequencing Primer
(F):5'- CAGCAGATACAAGAACTCCCAGTG -3'
(R):5'- CAGCTCTTGAATTGACTTCAGG -3'

Posted On

2015-06-24