Incidental Mutation 'R2915:Vrk3'
ID 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 7
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Arhgap11a A G 2: 113,663,853 (GRCm39) V810A probably damaging Het
B3gnt6 T C 7: 97,842,800 (GRCm39) N387D probably benign Het
Col5a2 C G 1: 45,452,656 (GRCm39) G358R probably damaging Het
Cracr2a A G 6: 127,588,468 (GRCm39) K209R probably damaging Het
Dmkn A G 7: 30,464,741 (GRCm39) N32S unknown Het
Dusp13b T A 14: 21,790,205 (GRCm39) N47I probably damaging Het
Elmo2 A G 2: 165,139,573 (GRCm39) probably benign Het
Ephb6 T C 6: 41,591,172 (GRCm39) F110L probably damaging Het
Gabrb2 T A 11: 42,482,734 (GRCm39) N197K probably benign Het
Gdnf T A 15: 7,845,130 (GRCm39) V41E possibly damaging Het
Gm21915 A G 9: 40,582,083 (GRCm39) I59V possibly damaging Het
Gprin2 C T 14: 33,917,038 (GRCm39) G244D possibly damaging Het
Grin2d T C 7: 45,482,781 (GRCm39) probably benign Het
Ice2 A G 9: 69,318,122 (GRCm39) D241G probably benign Het
Mios C T 6: 8,214,935 (GRCm39) R44C possibly damaging Het
Nlrp5-ps T C 7: 14,320,636 (GRCm39) noncoding transcript Het
Nyap2 C T 1: 81,065,188 (GRCm39) R67* probably null Het
Or4d6 G A 19: 12,085,989 (GRCm39) P81L probably benign Het
Or4f14 G T 2: 111,743,064 (GRCm39) D70E probably damaging Het
Or5m8 T A 2: 85,822,389 (GRCm39) V76E probably damaging Het
Or5t9 T C 2: 86,659,570 (GRCm39) I158T probably benign Het
Or8g19 G T 9: 39,055,762 (GRCm39) R122L possibly damaging Het
Otop2 G A 11: 115,219,972 (GRCm39) A271T probably benign Het
Otulin A G 15: 27,619,716 (GRCm39) probably benign Het
Pax1 A G 2: 147,210,348 (GRCm39) Y361C probably damaging Het
Pcdhb12 A T 18: 37,570,693 (GRCm39) N613I probably damaging Het
Plekha5 A G 6: 140,534,925 (GRCm39) K173E probably damaging Het
Plin4 T A 17: 56,411,389 (GRCm39) T881S probably damaging Het
Poli A G 18: 70,655,771 (GRCm39) probably null Het
Prex2 T A 1: 11,240,077 (GRCm39) F898I probably damaging Het
Prr14l A T 5: 32,987,112 (GRCm39) H794Q probably benign Het
Prss1 A T 6: 41,439,545 (GRCm39) I93F probably benign Het
Ptpro C T 6: 137,391,239 (GRCm39) probably benign Het
Rad1 T C 15: 10,486,728 (GRCm39) C42R probably damaging Het
Rnf20 A G 4: 49,638,769 (GRCm39) E197G probably benign Het
Setx A G 2: 29,062,336 (GRCm39) E2260G probably damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Six2 A G 17: 85,992,616 (GRCm39) S296P probably damaging Het
Smg1 T A 7: 117,810,102 (GRCm39) probably benign Het
Spred2 T C 11: 19,948,215 (GRCm39) V41A probably damaging Het
Ssu2 A T 6: 112,354,566 (GRCm39) C219* probably null Het
Tbc1d9b T A 11: 50,040,563 (GRCm39) V360D possibly damaging Het
Tdrd9 G A 12: 112,006,895 (GRCm39) D920N probably damaging Het
Tyrp1 A G 4: 80,755,692 (GRCm39) T154A possibly damaging Het
Wac A C 18: 7,926,131 (GRCm39) M596L possibly damaging Het
Zfhx2 G T 14: 55,302,014 (GRCm39) P1990Q probably damaging Het
Zfp853 T C 5: 143,275,332 (GRCm39) E96G unknown Het
Zzef1 G A 11: 72,801,152 (GRCm39) probably null Het
Other mutations in Vrk3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4357:Vrk3 UTSW 7 44,424,866 (GRCm39) missense probably benign 0.00
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'- AGATCACCCAGCTGAATTCC -3'

Sequencing Primer
(F):5'- CAGCAGATACAAGAACTCCCAGTG -3'
(R):5'- CAGCTCTTGAATTGACTTCAGG -3'
Posted On 2014-12-29