Incidental Mutation 'R5222:Vrk3'
ID 402365
Institutional Source Beutler Lab
Gene Symbol Vrk3
Ensembl Gene ENSMUSG00000002205
Gene Name vaccinia related kinase 3
Synonyms
MMRRC Submission 042795-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5222 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 44398049-44426939 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44409220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 129 (Q129L)
Ref Sequence ENSEMBL: ENSMUSP00000130331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002275] [ENSMUST00000144515] [ENSMUST00000147952] [ENSMUST00000165957] [ENSMUST00000171821]
AlphaFold Q8K3G5
Predicted Effect probably benign
Transcript: ENSMUST00000002275
AA Change: Q129L

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000002275
Gene: ENSMUSG00000002205
AA Change: Q129L

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 212 432 3.2e-8 PFAM
Pfam:Pkinase 218 432 4.2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136069
Predicted Effect probably benign
Transcript: ENSMUST00000144515
SMART Domains Protein: ENSMUSP00000119073
Gene: ENSMUSG00000002205

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000147952
AA Change: Q129L

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130331
Gene: ENSMUSG00000002205
AA Change: Q129L

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
Predicted Effect probably benign
Transcript: ENSMUST00000165957
AA Change: Q129L

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000131704
Gene: ENSMUSG00000002205
AA Change: Q129L

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000208083
Predicted Effect probably benign
Transcript: ENSMUST00000171821
SMART Domains Protein: ENSMUSP00000132748
Gene: ENSMUSG00000002205

DomainStartEndE-ValueType
Pfam:zf-ribbon_3 1 26 2.9e-12 PFAM
Pfam:zinc_ribbon_2 4 26 2e-10 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (52/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik C A 1: 159,872,178 (GRCm39) noncoding transcript Het
Acad11 G A 9: 103,974,576 (GRCm39) A515T probably damaging Het
Angpt1 T C 15: 42,539,730 (GRCm39) Y43C probably damaging Het
Arhgef33 A G 17: 80,644,743 (GRCm39) Y24C probably damaging Het
Cd40 G C 2: 164,908,464 (GRCm39) S180T probably benign Het
Cenpc1 A T 5: 86,185,606 (GRCm39) S302T possibly damaging Het
Cit C A 5: 116,090,602 (GRCm39) T932K probably benign Het
Col19a1 A C 1: 24,598,721 (GRCm39) probably null Het
Dapk3 A G 10: 81,028,294 (GRCm39) E288G probably damaging Het
Ddx60 T C 8: 62,437,192 (GRCm39) F1002S probably damaging Het
Dgke G T 11: 88,941,220 (GRCm39) T321K probably benign Het
Ebf2 T G 14: 67,551,043 (GRCm39) probably benign Het
Enpp7 A G 11: 118,881,788 (GRCm39) D311G probably benign Het
Epm2a A G 10: 11,324,493 (GRCm39) E194G probably damaging Het
Esf1 A G 2: 140,000,503 (GRCm39) Y428H possibly damaging Het
Esyt2 T C 12: 116,282,446 (GRCm39) F132S probably damaging Het
Gm5455 T C 13: 110,441,494 (GRCm39) noncoding transcript Het
Gria1 T A 11: 57,080,623 (GRCm39) V202E probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mark1 A T 1: 184,660,288 (GRCm39) F123I probably damaging Het
Nectin4 T A 1: 171,212,825 (GRCm39) probably null Het
Obscn T A 11: 58,934,971 (GRCm39) T5220S possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2l13 A C 16: 19,305,680 (GRCm39) I31L probably benign Het
Or2p2 T A 13: 21,256,739 (GRCm39) H244L probably damaging Het
Pdcd1 A T 1: 93,980,175 (GRCm39) V14E probably damaging Het
Pmel A G 10: 128,554,853 (GRCm39) probably null Het
Pramel28 T A 4: 143,691,362 (GRCm39) I454F possibly damaging Het
Prrx1 C T 1: 163,089,542 (GRCm39) R95Q probably damaging Het
Pstpip2 T A 18: 77,962,032 (GRCm39) Y267* probably null Het
Ptprq A G 10: 107,498,425 (GRCm39) I884T probably damaging Het
Rad17 G A 13: 100,770,399 (GRCm39) T216I possibly damaging Het
Rif1 T C 2: 51,967,032 (GRCm39) I107T probably benign Het
Rpp14 T C 14: 8,087,513 (GRCm38) L69P probably damaging Het
Rtel1 G T 2: 180,988,776 (GRCm39) probably benign Het
Sap130 C T 18: 31,799,756 (GRCm39) T362M probably damaging Het
Scn11a A G 9: 119,644,268 (GRCm39) probably null Het
Sec31a G T 5: 100,530,754 (GRCm39) T243N probably benign Het
Slc5a9 T A 4: 111,755,808 (GRCm39) H30L possibly damaging Het
Slco6b1 T A 1: 96,925,216 (GRCm39) noncoding transcript Het
Smarca4 A G 9: 21,567,002 (GRCm39) D694G probably benign Het
Spaca6 A G 17: 18,058,367 (GRCm39) T213A probably benign Het
Tagap C A 17: 8,152,473 (GRCm39) Q553K possibly damaging Het
Tagap A T 17: 8,152,474 (GRCm39) Q553L possibly damaging Het
Tcf7l2 A G 19: 55,887,044 (GRCm39) Q19R probably benign Het
Ttn A G 2: 76,709,197 (GRCm39) probably benign Het
Ubr7 A T 12: 102,741,964 (GRCm39) R399S probably benign Het
Uspl1 C A 5: 149,150,911 (GRCm39) Q690K possibly damaging Het
Vps8 T A 16: 21,400,298 (GRCm39) Y853* probably null Het
Wapl T A 14: 34,458,642 (GRCm39) C901* 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
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
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
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'- GAGCAAAGATTCTGCTCTGTG -3'
(R):5'- CCCTGAACTTGCTGTACTTGG -3'

Sequencing Primer
(F):5'- CAAAGATTCTGCTCTGTGGGAAGTC -3'
(R):5'- GTACTTGGGTATCGTATTCCATCCG -3'
Posted On 2016-07-22