Incidental Mutation 'IGL02011:Vrk2'
ID183368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vrk2
Ensembl Gene ENSMUSG00000064090
Gene Namevaccinia related kinase 2
Synonyms2810003O05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.183) question?
Stock #IGL02011
Quality Score
Status
Chromosome11
Chromosomal Location26471322-26593999 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 26471717 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 414 (T414S)
Ref Sequence ENSEMBL: ENSMUSP00000105130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004120] [ENSMUST00000078362] [ENSMUST00000109504] [ENSMUST00000109509]
Predicted Effect probably benign
Transcript: ENSMUST00000004120
SMART Domains Protein: ENSMUSP00000004120
Gene: ENSMUSG00000004018

DomainStartEndE-ValueType
Pfam:WD-3 11 295 1.1e-106 PFAM
FANCL_C 303 371 7.55e-44 SMART
RING 307 362 2.77e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000078362
AA Change: T414S

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000077471
Gene: ENSMUSG00000064090
AA Change: T414S

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 benign
Transcript: ENSMUST00000109504
AA Change: T414S

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105130
Gene: ENSMUSG00000064090
AA Change: T414S

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
Predicted Effect probably benign
Transcript: ENSMUST00000109509
SMART Domains Protein: ENSMUSP00000105135
Gene: ENSMUSG00000004018

DomainStartEndE-ValueType
Pfam:WD-3 8 290 2.4e-116 PFAM
FANCL_C 298 366 7.55e-44 SMART
RING 302 357 2.77e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134445
SMART Domains Protein: ENSMUSP00000119873
Gene: ENSMUSG00000004018

DomainStartEndE-ValueType
Pfam:WD-3 1 65 2.2e-24 PFAM
Pfam:FANCL_C 73 127 4.2e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143471
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. 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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T A 14: 49,081,135 probably benign Het
Arg1 T C 10: 24,916,377 T215A probably benign Het
Arhgap15 A T 2: 43,780,755 K50N probably damaging Het
Ctdsp1 C T 1: 74,394,016 probably benign Het
Cwc22 A T 2: 77,921,022 D363E possibly damaging Het
Drd2 G T 9: 49,406,958 C400F probably damaging Het
Eef1akmt1 A T 14: 57,558,098 Y65N probably damaging Het
Gbp10 C A 5: 105,221,101 G291W probably damaging Het
Lrit1 T A 14: 37,062,323 V536E probably damaging Het
Olfr1411 T A 1: 92,596,899 Y127N probably damaging Het
Olfr464 C A 11: 87,914,882 W8L probably benign Het
Olfr599 G T 7: 103,338,849 R265L probably damaging Het
Pcdh12 C T 18: 38,281,420 G884D probably damaging Het
Pih1d1 G T 7: 45,156,732 A31S probably damaging Het
Plcxd2 T C 16: 45,965,091 D317G probably damaging Het
Prkaca T C 8: 83,990,936 F231S probably damaging Het
Raet1d T A 10: 22,371,574 I183K probably damaging Het
Scaper A G 9: 55,580,322 F752S probably damaging Het
Shisa9 C T 16: 12,244,638 T241I possibly damaging Het
Taar9 C T 10: 24,108,579 R319H possibly damaging Het
Unkl T A 17: 25,218,591 V365E probably damaging Het
Usp34 C T 11: 23,471,554 S3077F probably damaging Het
Vps16 A G 2: 130,441,479 I566V probably benign Het
Xpnpep1 A T 19: 53,002,465 probably benign Het
Zfp804a A G 2: 82,256,691 Q288R probably damaging Het
Other mutations in Vrk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01865:Vrk2 APN 11 26535560 missense possibly damaging 0.73
IGL02185:Vrk2 APN 11 26535638 nonsense probably null
IGL02257:Vrk2 APN 11 26534266 missense probably damaging 1.00
IGL02424:Vrk2 APN 11 26476564 missense probably benign 0.00
macromacro UTSW 11 26549325 missense probably damaging 1.00
R0127:Vrk2 UTSW 11 26534313 splice site probably benign
R0184:Vrk2 UTSW 11 26550046 missense probably damaging 0.98
R0670:Vrk2 UTSW 11 26486959 critical splice donor site probably null
R0751:Vrk2 UTSW 11 26483331 splice site probably benign
R0766:Vrk2 UTSW 11 26535522 splice site probably benign
R1103:Vrk2 UTSW 11 26549325 missense probably damaging 1.00
R1184:Vrk2 UTSW 11 26483331 splice site probably benign
R1312:Vrk2 UTSW 11 26535522 splice site probably benign
R2041:Vrk2 UTSW 11 26547914 missense probably benign 0.01
R2857:Vrk2 UTSW 11 26483324 missense possibly damaging 0.54
R2859:Vrk2 UTSW 11 26483324 missense possibly damaging 0.54
R3615:Vrk2 UTSW 11 26489866 missense possibly damaging 0.90
R3616:Vrk2 UTSW 11 26489866 missense possibly damaging 0.90
R4163:Vrk2 UTSW 11 26547915 missense probably benign 0.00
R4651:Vrk2 UTSW 11 26489803 missense probably damaging 0.98
R4652:Vrk2 UTSW 11 26489803 missense probably damaging 0.98
R4662:Vrk2 UTSW 11 26471611 missense possibly damaging 0.95
R5262:Vrk2 UTSW 11 26591697 missense possibly damaging 0.94
R5458:Vrk2 UTSW 11 26498919 missense probably damaging 0.99
R5529:Vrk2 UTSW 11 26499036 missense probably damaging 1.00
R5840:Vrk2 UTSW 11 26534314 splice site probably benign
R5892:Vrk2 UTSW 11 26534372 intron probably benign
R6054:Vrk2 UTSW 11 26486975 missense probably benign 0.20
R6923:Vrk2 UTSW 11 26489893 missense probably damaging 1.00
R6952:Vrk2 UTSW 11 26535597 missense probably damaging 0.97
R7841:Vrk2 UTSW 11 26471457 missense probably damaging 1.00
R8165:Vrk2 UTSW 11 26535575 missense probably benign 0.21
Posted On2014-05-07