Incidental Mutation 'R6923:Vrk2'
ID 539746
Institutional Source Beutler Lab
Gene Symbol Vrk2
Ensembl Gene ENSMUSG00000064090
Gene Name vaccinia related kinase 2
Synonyms 2810003O05Rik
MMRRC Submission 045381-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R6923 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 26421398-26544006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26439893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 226 (A226V)
Ref Sequence ENSEMBL: ENSMUSP00000105130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078362] [ENSMUST00000109504]
AlphaFold Q8BN21
Predicted Effect probably damaging
Transcript: ENSMUST00000078362
AA Change: A226V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077471
Gene: ENSMUSG00000064090
AA Change: A226V

DomainStartEndE-ValueType
Pfam:Pkinase 29 298 4.4e-18 PFAM
Pfam:Pkinase_Tyr 29 313 2e-11 PFAM
low complexity region 365 376 N/A INTRINSIC
transmembrane domain 480 502 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109504
AA Change: A226V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105130
Gene: ENSMUSG00000064090
AA Change: A226V

DomainStartEndE-ValueType
Pfam:Pkinase 29 302 2.8e-22 PFAM
Pfam:Pkinase_Tyr 29 313 1.3e-11 PFAM
low complexity region 365 376 N/A INTRINSIC
transmembrane domain 480 502 N/A INTRINSIC
Meta Mutation Damage Score 0.2234 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 100% (59/59)
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. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Albfm1 A G 5: 90,725,652 (GRCm39) N288S probably benign Het
Ap4b1 T A 3: 103,719,530 (GRCm39) D81E probably benign Het
Atg16l1 A T 1: 87,702,078 (GRCm39) probably null Het
Atp11a A G 8: 12,906,949 (GRCm39) T459A probably damaging Het
Bloc1s5 T A 13: 38,815,040 (GRCm39) I40F probably damaging Het
Bltp2 T A 11: 78,165,452 (GRCm39) S1323T possibly damaging Het
Capn5 T A 7: 97,778,461 (GRCm39) Q386L probably damaging Het
Cbfa2t2 C T 2: 154,376,903 (GRCm39) H529Y probably damaging Het
Cd3d T C 9: 44,897,157 (GRCm39) probably benign Het
Cenpa A G 5: 30,829,806 (GRCm39) probably null Het
Chit1 A T 1: 134,077,163 (GRCm39) Y322F probably null Het
Cntnap5c T A 17: 58,399,345 (GRCm39) N399K possibly damaging Het
Dock8 A T 19: 25,072,970 (GRCm39) T417S probably benign Het
Firrm A G 1: 163,814,454 (GRCm39) probably null Het
Fkbp2 A G 19: 6,956,537 (GRCm39) Het
Fsip1 G A 2: 118,080,394 (GRCm39) R121C probably benign Het
Gbp2b T C 3: 142,306,320 (GRCm39) I131T probably benign Het
Gm12695 T C 4: 96,658,053 (GRCm39) N39D probably benign Het
Gm4922 T C 10: 18,659,616 (GRCm39) R369G probably damaging Het
Gpatch3 C T 4: 133,309,836 (GRCm39) L390F probably damaging Het
Gpd2 G A 2: 57,245,800 (GRCm39) M443I probably damaging Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hdac1-ps A G 17: 78,800,343 (GRCm39) T445A possibly damaging Het
Jph3 A G 8: 122,480,110 (GRCm39) T263A possibly damaging Het
Me3 C A 7: 89,495,093 (GRCm39) A337E probably damaging Het
Mndal A C 1: 173,712,264 (GRCm39) probably null Het
Msantd5l C T 11: 51,144,808 (GRCm39) D158N probably damaging Het
Muc6 C T 7: 141,217,453 (GRCm39) E2342K possibly damaging Het
Neb A G 2: 52,076,076 (GRCm39) V5659A probably damaging Het
Nkapd1 T A 9: 50,521,610 (GRCm39) I104L probably benign Het
Nrxn1 G A 17: 91,395,661 (GRCm39) A165V probably benign Het
Or5b94 T A 19: 12,652,409 (GRCm39) I280N possibly damaging Het
Or5b97 T C 19: 12,878,676 (GRCm39) N156S probably benign Het
Orc2 A G 1: 58,539,534 (GRCm39) L35S probably benign Het
Pax4 A G 6: 28,447,118 (GRCm39) probably null Het
Pcdhb7 C T 18: 37,475,522 (GRCm39) probably null Het
Pla2r1 C T 2: 60,345,310 (GRCm39) E349K probably benign Het
Polr2a C T 11: 69,626,787 (GRCm39) A1516T probably benign Het
Pramel23 A T 4: 143,425,676 (GRCm39) I89N probably benign Het
Prpf38a G T 4: 108,427,401 (GRCm39) D187E possibly damaging Het
Rdh16f1 T A 10: 127,624,737 (GRCm39) probably null Het
S100z T A 13: 95,615,090 (GRCm39) D25V probably damaging Het
Scamp2 T G 9: 57,488,895 (GRCm39) F199V probably damaging Het
Semp2l2b C A 10: 21,943,654 (GRCm39) G109C probably damaging Het
Senp2 T G 16: 21,830,326 (GRCm39) probably benign Het
Sltm T A 9: 70,481,892 (GRCm39) S365T probably damaging Het
Smg6 C G 11: 74,820,169 (GRCm39) P147A possibly damaging Het
Spem2 T A 11: 69,708,603 (GRCm39) R121W probably damaging Het
Sufu A G 19: 46,439,405 (GRCm39) probably null Het
Syt2 T C 1: 134,674,501 (GRCm39) V313A possibly damaging Het
Tet2 C T 3: 133,185,102 (GRCm39) probably null Het
Tfeb T A 17: 48,097,908 (GRCm39) I232N probably benign Het
Ticrr T G 7: 79,341,601 (GRCm39) I1062M probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wnk1 A T 6: 119,942,639 (GRCm39) probably benign Het
Xpo4 G T 14: 57,841,168 (GRCm39) T505K probably benign Het
Yy1 A T 12: 108,759,594 (GRCm39) I86F probably benign Het
Zc3h15 A G 2: 83,487,400 (GRCm39) D73G possibly damaging Het
Other mutations in Vrk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01865:Vrk2 APN 11 26,485,560 (GRCm39) missense possibly damaging 0.73
IGL02011:Vrk2 APN 11 26,421,717 (GRCm39) missense probably benign 0.10
IGL02185:Vrk2 APN 11 26,485,638 (GRCm39) nonsense probably null
IGL02257:Vrk2 APN 11 26,484,266 (GRCm39) missense probably damaging 1.00
IGL02424:Vrk2 APN 11 26,426,564 (GRCm39) missense probably benign 0.00
macromacro UTSW 11 26,499,325 (GRCm39) missense probably damaging 1.00
R0127:Vrk2 UTSW 11 26,484,313 (GRCm39) splice site probably benign
R0184:Vrk2 UTSW 11 26,500,046 (GRCm39) missense probably damaging 0.98
R0670:Vrk2 UTSW 11 26,436,959 (GRCm39) critical splice donor site probably null
R0751:Vrk2 UTSW 11 26,433,331 (GRCm39) splice site probably benign
R0766:Vrk2 UTSW 11 26,485,522 (GRCm39) splice site probably benign
R1103:Vrk2 UTSW 11 26,499,325 (GRCm39) missense probably damaging 1.00
R1184:Vrk2 UTSW 11 26,433,331 (GRCm39) splice site probably benign
R1312:Vrk2 UTSW 11 26,485,522 (GRCm39) splice site probably benign
R2041:Vrk2 UTSW 11 26,497,914 (GRCm39) missense probably benign 0.01
R2857:Vrk2 UTSW 11 26,433,324 (GRCm39) missense possibly damaging 0.54
R2859:Vrk2 UTSW 11 26,433,324 (GRCm39) missense possibly damaging 0.54
R3615:Vrk2 UTSW 11 26,439,866 (GRCm39) missense possibly damaging 0.90
R3616:Vrk2 UTSW 11 26,439,866 (GRCm39) missense possibly damaging 0.90
R4163:Vrk2 UTSW 11 26,497,915 (GRCm39) missense probably benign 0.00
R4651:Vrk2 UTSW 11 26,439,803 (GRCm39) missense probably damaging 0.98
R4652:Vrk2 UTSW 11 26,439,803 (GRCm39) missense probably damaging 0.98
R4662:Vrk2 UTSW 11 26,421,611 (GRCm39) missense possibly damaging 0.95
R5262:Vrk2 UTSW 11 26,541,697 (GRCm39) missense possibly damaging 0.94
R5458:Vrk2 UTSW 11 26,448,919 (GRCm39) missense probably damaging 0.99
R5529:Vrk2 UTSW 11 26,449,036 (GRCm39) missense probably damaging 1.00
R5840:Vrk2 UTSW 11 26,484,314 (GRCm39) splice site probably benign
R5892:Vrk2 UTSW 11 26,484,372 (GRCm39) intron probably benign
R6054:Vrk2 UTSW 11 26,436,975 (GRCm39) missense probably benign 0.20
R6952:Vrk2 UTSW 11 26,485,597 (GRCm39) missense probably damaging 0.97
R7841:Vrk2 UTSW 11 26,421,457 (GRCm39) missense probably damaging 1.00
R8165:Vrk2 UTSW 11 26,485,575 (GRCm39) missense probably benign 0.21
R9074:Vrk2 UTSW 11 26,543,917 (GRCm39) intron probably benign
R9583:Vrk2 UTSW 11 26,433,157 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TATTTTCACTGGTGCCAAGGG -3'
(R):5'- TTACTTCAGCAGCCAGTCGC -3'

Sequencing Primer
(F):5'- CAAGGGGCCATTCTCTCTG -3'
(R):5'- CAGTCGCTGCCTGTCTGTG -3'
Posted On 2018-11-06