Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02682:Vrk3'

303381

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vrk3

Ensembl Gene

ENSMUSG00000002205

Gene Name

vaccinia related kinase 3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02682

Quality Score

Status

Chromosome

Chromosomal Location

44748413-44777515 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44753820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 2 (I2V)

Ref Sequence

ENSEMBL: ENSMUSP00000119073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002275] [ENSMUST00000125705] [ENSMUST00000126366] [ENSMUST00000144515] [ENSMUST00000147952] [ENSMUST00000165957] [ENSMUST00000171821]

AlphaFold

Q8K3G5

Predicted Effect

probably benign
Transcript: ENSMUST00000002275
AA Change: I2V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000002275
Gene: ENSMUSG00000002205
AA Change: I2V

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: ENSMUST00000125705
AA Change: I2V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000126366

SMART Domains

Protein: ENSMUSP00000127101
Gene: ENSMUSG00000048012

Domain	Start	End	E-Value	Type
KRAB	23	84	8.77e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134750

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136069

Predicted Effect

probably benign
Transcript: ENSMUST00000144515
AA Change: I2V

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119073
Gene: ENSMUSG00000002205
AA Change: I2V

Domain	Start	End	E-Value	Type
Pfam:zf-ribbon_3	1	26	1.2e-11	PFAM
Pfam:zinc_ribbon_2	4	26	3e-10	PFAM
PDB:2JII\|B	97	176	3e-36	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000147952
AA Change: I2V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130331
Gene: ENSMUSG00000002205
AA Change: I2V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000165957
AA Change: I2V

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131704
Gene: ENSMUSG00000002205
AA Change: I2V

Domain	Start	End	E-Value	Type
Pfam:zf-ribbon_3	1	26	6.7e-12	PFAM
Pfam:zinc_ribbon_2	4	26	4.4e-10	PFAM
PDB:2JII\|B	117	204	7e-30	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000171821
AA Change: I2V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000132748
Gene: ENSMUSG00000002205
AA Change: I2V

Domain	Start	End	E-Value	Type
Pfam:zf-ribbon_3	1	26	2.9e-12	PFAM
Pfam:zinc_ribbon_2	4	26	2e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208083

Coding Region Coverage

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	A	G	2: 58,477,811	S113P	probably benign	Het
Arhgdib	A	T	6: 136,924,168	W188R	probably damaging	Het
Bcr	T	A	10: 75,166,046	N927K	possibly damaging	Het
Cd209c	A	G	8: 3,940,324	Y165H	probably damaging	Het
Cnnm2	A	G	19: 46,762,076	K102E	probably benign	Het
Col12a1	T	C	9: 79,699,341	E600G	probably damaging	Het
Ddx4	A	T	13: 112,622,186	H280Q	probably benign	Het
Eya4	T	C	10: 23,116,600	Y462C	probably damaging	Het
Fibcd1	T	A	2: 31,838,564	I94F	probably damaging	Het
Gm4846	C	A	1: 166,494,626	G124V	probably damaging	Het
Gm5624	A	G	14: 44,560,012	I108T	possibly damaging	Het
Gpr179	A	T	11: 97,351,865	M51K	probably benign	Het
Hck	A	G	2: 153,134,134	I198V	probably damaging	Het
Kcnd2	T	A	6: 21,216,925	C209*	probably null	Het
Klhl1	T	A	14: 96,201,342	I507F	possibly damaging	Het
Knl1	A	T	2: 119,077,969	K1693N	possibly damaging	Het
Mcam	T	C	9: 44,140,417	V490A	possibly damaging	Het
Mrgprx1	A	T	7: 48,021,992	D2E	probably damaging	Het
Mtg1	T	C	7: 140,144,729		probably benign	Het
Myof	C	A	19: 37,921,481	R1512L	probably benign	Het
Nrp2	C	T	1: 62,771,837	T679I	probably benign	Het
Nwd2	C	A	5: 63,804,677	L535I	probably benign	Het
Nwd2	T	A	5: 63,804,678	L535H	probably damaging	Het
Olfr1307	T	A	2: 111,944,940	N172I	probably damaging	Het
Olfr1442	T	C	19: 12,674,669	S155P	probably damaging	Het
Olfr592	A	T	7: 103,187,014	I138F	probably damaging	Het
Phkb	A	G	8: 85,875,646	*41W	probably null	Het
Prl5a1	T	A	13: 28,145,420	N27K	probably benign	Het
Rims1	T	C	1: 22,288,484	T1292A	probably damaging	Het
Rnf38	G	A	4: 44,133,745	A376V	probably damaging	Het
Slc34a2	T	C	5: 53,059,238	V117A	possibly damaging	Het
Slfn8	A	T	11: 83,003,691	F707L	probably damaging	Het
Snx16	G	A	3: 10,438,175	P4L	probably damaging	Het
Snx6	T	C	12: 54,754,345	D289G	probably damaging	Het
St8sia3	G	T	18: 64,269,679	V130F	probably damaging	Het
U2surp	A	G	9: 95,481,651		probably null	Het
Ubqln3	A	G	7: 104,142,065	F273L	probably benign	Het
Vmn2r101	A	T	17: 19,612,245	R834S	possibly damaging	Het
Vmn2r18	G	T	5: 151,584,637	H341N	probably damaging	Het
Zglp1	A	G	9: 21,066,238	S94P	probably benign	Het

Other mutations in Vrk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Vrk3	APN	7	44769647	missense	probably damaging	1.00
IGL01540:Vrk3	APN	7	44767144	missense	probably damaging	1.00
R0462:Vrk3	UTSW	7	44764200	missense	possibly damaging	0.77
R0831:Vrk3	UTSW	7	44764803	missense	probably damaging	1.00
R1760:Vrk3	UTSW	7	44768471	missense	probably damaging	0.98
R2212:Vrk3	UTSW	7	44775442	missense	probably benign	0.00
R2289:Vrk3	UTSW	7	44775442	missense	probably benign	0.00
R2915:Vrk3	UTSW	7	44775442	missense	probably benign	0.00
R3027:Vrk3	UTSW	7	44775442	missense	probably benign	0.00
R3028:Vrk3	UTSW	7	44775442	missense	probably benign	0.00
R3416:Vrk3	UTSW	7	44775442	missense	probably benign	0.00
R3417:Vrk3	UTSW	7	44775442	missense	probably benign	0.00
R3613:Vrk3	UTSW	7	44775442	missense	probably benign	0.00
R3877:Vrk3	UTSW	7	44763036	splice site	probably null
R4357:Vrk3	UTSW	7	44775442	missense	probably benign	0.00
R4359:Vrk3	UTSW	7	44775442	missense	probably benign	0.00
R4379:Vrk3	UTSW	7	44775442	missense	probably benign	0.00
R4381:Vrk3	UTSW	7	44775442	missense	probably benign	0.00
R4439:Vrk3	UTSW	7	44775442	missense	probably benign	0.00
R4441:Vrk3	UTSW	7	44775442	missense	probably benign	0.00
R4773:Vrk3	UTSW	7	44775476	missense	probably benign
R5222:Vrk3	UTSW	7	44759796	missense	possibly damaging	0.67
R5808:Vrk3	UTSW	7	44759874	missense	probably damaging	0.96
R6180:Vrk3	UTSW	7	44769611	missense	possibly damaging	0.50
R7007:Vrk3	UTSW	7	44757763	missense	probably damaging	0.97
R7058:Vrk3	UTSW	7	44768466	missense	probably damaging	0.98
R7425:Vrk3	UTSW	7	44770924	critical splice donor site	probably null
R7995:Vrk3	UTSW	7	44764161	missense	probably damaging	1.00
R8804:Vrk3	UTSW	7	44757846	nonsense	probably null
R9123:Vrk3	UTSW	7	44757830	missense	possibly damaging	0.94
R9330:Vrk3	UTSW	7	44775486	missense	probably damaging	0.98
R9681:Vrk3	UTSW	7	44753932	missense	possibly damaging	0.96

Posted On

2015-04-16