Mutagenetix > Incidental Mutation

Incidental Mutation 'R2915:Vrk3'

254846

Institutional Source

Beutler Lab

Gene Symbol

Vrk3

Ensembl Gene

ENSMUSG00000002205

Gene Name

vaccinia related kinase 3

Synonyms

MMRRC Submission

040502-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44748413-44777515 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44775442 bp (GRCm38)

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: 97.4%
20x: 95.4%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Arhgap11a	A	G	2: 113,833,508	V810A	probably damaging	Het
B3gnt6	T	C	7: 98,193,593	N387D	probably benign	Het
Col5a2	C	G	1: 45,413,496	G358R	probably damaging	Het
Cracr2a	A	G	6: 127,611,505	K209R	probably damaging	Het
Dmkn	A	G	7: 30,765,316	N32S	unknown	Het
Dusp13	T	A	14: 21,740,137	N47I	probably damaging	Het
Elmo2	A	G	2: 165,297,653		probably benign	Het
Ephb6	T	C	6: 41,614,238	F110L	probably damaging	Het
Gabrb2	T	A	11: 42,591,907	N197K	probably benign	Het
Gdnf	T	A	15: 7,815,649	V41E	possibly damaging	Het
Gm21915	A	G	9: 40,670,787	I59V	possibly damaging	Het
Gprin2	C	T	14: 34,195,081	G244D	possibly damaging	Het
Grin2d	T	C	7: 45,833,357		probably benign	Het
Ice2	A	G	9: 69,410,840	D241G	probably benign	Het
Mios	C	T	6: 8,214,935	R44C	possibly damaging	Het
Nlrp5-ps	T	C	7: 14,586,711		noncoding transcript	Het
Nyap2	C	T	1: 81,087,471	R67*	probably null	Het
Olfr1031	T	A	2: 85,992,045	V76E	probably damaging	Het
Olfr1094	T	C	2: 86,829,226	I158T	probably benign	Het
Olfr1306	G	T	2: 111,912,719	D70E	probably damaging	Het
Olfr1428	G	A	19: 12,108,625	P81L	probably benign	Het
Olfr27	G	T	9: 39,144,466	R122L	possibly damaging	Het
Otop2	G	A	11: 115,329,146	A271T	probably benign	Het
Otulin	A	G	15: 27,619,630		probably benign	Het
Pax1	A	G	2: 147,368,428	Y361C	probably damaging	Het
Pcdhb12	A	T	18: 37,437,640	N613I	probably damaging	Het
Plekha5	A	G	6: 140,589,199	K173E	probably damaging	Het
Plin4	T	A	17: 56,104,389	T881S	probably damaging	Het
Poli	A	G	18: 70,522,700		probably null	Het
Prex2	T	A	1: 11,169,853	F898I	probably damaging	Het
Prr14l	A	T	5: 32,829,768	H794Q	probably benign	Het
Prss1	A	T	6: 41,462,611	I93F	probably benign	Het
Ptpro	C	T	6: 137,414,241		probably benign	Het
Rad1	T	C	15: 10,486,642	C42R	probably damaging	Het
Rnf20	A	G	4: 49,638,769	E197G	probably benign	Het
Setx	A	G	2: 29,172,324	E2260G	probably damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Six2	A	G	17: 85,685,188	S296P	probably damaging	Het
Smg1	T	A	7: 118,210,879		probably benign	Het
Spred2	T	C	11: 19,998,215	V41A	probably damaging	Het
Ssu2	A	T	6: 112,377,605	C219*	probably null	Het
Tbc1d9b	T	A	11: 50,149,736	V360D	possibly damaging	Het
Tdrd9	G	A	12: 112,040,461	D920N	probably damaging	Het
Tyrp1	A	G	4: 80,837,455	T154A	possibly damaging	Het
Wac	A	C	18: 7,926,131	M596L	possibly damaging	Het
Zfhx2	G	T	14: 55,064,557	P1990Q	probably damaging	Het
Zfp853	T	C	5: 143,289,577	E96G	unknown	Het
Zzef1	G	A	11: 72,910,326		probably null	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
IGL02682:Vrk3	APN	7	44753820	missense	probably benign	0.19
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
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

Predicted Primers

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

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

Posted On

2014-12-29