Incidental Mutation 'IGL02580:Map2k6'
ID299320
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map2k6
Ensembl Gene ENSMUSG00000020623
Gene Namemitogen-activated protein kinase kinase 6
SynonymsMAP kinase kinase 6, SAPKK3, Prkmk6, MKK6
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02580
Quality Score
Status
Chromosome11
Chromosomal Location110399122-110525522 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 110490841 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 71 (R71H)
Ref Sequence ENSEMBL: ENSMUSP00000097831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020949] [ENSMUST00000100260]
Predicted Effect probably benign
Transcript: ENSMUST00000020949
AA Change: R71H

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000020949
Gene: ENSMUSG00000020623
AA Change: R71H

DomainStartEndE-ValueType
S_TKc 53 314 2.82e-73 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100260
AA Change: R71H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097831
Gene: ENSMUSG00000020623
AA Change: R71H

DomainStartEndE-ValueType
Pfam:Pkinase 53 288 4.3e-47 PFAM
Pfam:Pkinase_Tyr 53 289 1.2e-32 PFAM
Pfam:Kinase-like 57 274 7.3e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146540
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 dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null targeted mutations of this gene are viable, grow normally and have no gross physical or histologic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acpp A T 9: 104,326,948 I49N probably damaging Het
Aqp8 T C 7: 123,466,730 probably benign Het
Atrnl1 T C 19: 57,714,576 probably benign Het
Cdh1 A G 8: 106,649,018 T63A probably benign Het
Cenpf A G 1: 189,657,441 L1398S probably benign Het
Ctdp1 T A 18: 80,450,090 S397C probably benign Het
Cyp2c37 T A 19: 39,994,498 V177D probably damaging Het
Elmo3 A T 8: 105,308,494 D419V probably damaging Het
Fabp1 T C 6: 71,203,144 S100P probably damaging Het
Hcfc2 A T 10: 82,728,422 N485I probably benign Het
Igkv10-95 A G 6: 68,680,652 T51A probably benign Het
Iqub A G 6: 24,501,399 I184T probably benign Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Ncapg2 T C 12: 116,420,689 S257P probably damaging Het
Nusap1 T C 2: 119,648,890 probably benign Het
Nwd2 A G 5: 63,808,169 R1699G probably damaging Het
Olfm3 A G 3: 115,122,508 N363S probably damaging Het
Olfr1158 T C 2: 87,990,513 V134A probably benign Het
Olfr578 C T 7: 102,984,702 S154N probably damaging Het
Pirb T C 7: 3,714,206 probably null Het
Plch2 G A 4: 154,984,764 T1135I probably benign Het
Riox2 G A 16: 59,486,573 V276I probably benign Het
Slc11a1 A G 1: 74,380,259 D144G probably damaging Het
Usp40 C A 1: 87,980,966 probably null Het
Vars2 G A 17: 35,660,885 A73V possibly damaging Het
Other mutations in Map2k6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Map2k6 APN 11 110496411 missense probably damaging 1.00
IGL01778:Map2k6 APN 11 110512869 intron probably benign
IGL02058:Map2k6 APN 11 110492583 missense probably damaging 1.00
IGL03139:Map2k6 APN 11 110496473 splice site probably benign
Heartening UTSW 11 110492908 missense
Uplifting UTSW 11 110492562 missense probably damaging 1.00
R0230:Map2k6 UTSW 11 110496455 missense probably damaging 1.00
R0361:Map2k6 UTSW 11 110499509 missense probably damaging 0.99
R0634:Map2k6 UTSW 11 110494343 nonsense probably null
R1716:Map2k6 UTSW 11 110497901 missense probably damaging 1.00
R2214:Map2k6 UTSW 11 110496341 missense probably damaging 1.00
R2279:Map2k6 UTSW 11 110499464 missense probably damaging 1.00
R4610:Map2k6 UTSW 11 110499474 missense probably damaging 1.00
R4677:Map2k6 UTSW 11 110399394 utr 5 prime probably benign
R5299:Map2k6 UTSW 11 110492963 missense probably benign 0.03
R5761:Map2k6 UTSW 11 110399371 utr 5 prime probably benign
R5996:Map2k6 UTSW 11 110497906 missense possibly damaging 0.77
R6391:Map2k6 UTSW 11 110490877 critical splice donor site probably null
R6529:Map2k6 UTSW 11 110492562 missense probably damaging 1.00
R7020:Map2k6 UTSW 11 110506714 intron probably benign
R7345:Map2k6 UTSW 11 110492908 missense
R7681:Map2k6 UTSW 11 110497903 nonsense probably null
Posted On2015-04-16