Incidental Mutation 'IGL01503:Mapkapk2'
ID 88960
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapkapk2
Ensembl Gene ENSMUSG00000016528
Gene Name MAP kinase-activated protein kinase 2
Synonyms MAPKAP kinase 2, Rps6kc1, MK2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01503
Quality Score
Status
Chromosome 1
Chromosomal Location 130981437-131025563 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 130986499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000141124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016672] [ENSMUST00000188459]
AlphaFold P49138
Predicted Effect probably benign
Transcript: ENSMUST00000016672
AA Change: M80V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000016672
Gene: ENSMUSG00000016528
AA Change: M80V

DomainStartEndE-ValueType
low complexity region 6 32 N/A INTRINSIC
S_TKc 50 311 1.26e-93 SMART
Predicted Effect probably null
Transcript: ENSMUST00000188459
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141124
Gene: ENSMUSG00000016528
AA Change: M1V

DomainStartEndE-ValueType
S_TKc 1 160 4.5e-4 SMART
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 Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Inactivation of this locus affects the inflammatory response. Homozygous null mice show an increased susceptibility to bacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T A 16: 88,971,757 (GRCm39) Y26* probably null Het
Aadacl4fm4 T A 4: 144,401,137 (GRCm39) I116F probably damaging Het
Arpc1a T C 5: 145,032,964 (GRCm39) V91A probably damaging Het
Atp2a1 T A 7: 126,047,750 (GRCm39) I687F probably damaging Het
B3gnt5 A C 16: 19,588,531 (GRCm39) Y250S probably damaging Het
Brip1 A G 11: 85,952,703 (GRCm39) V1026A probably benign Het
C1s2 T C 6: 124,602,612 (GRCm39) D527G probably damaging Het
Chrna5 T A 9: 54,905,455 (GRCm39) probably benign Het
Cltc C A 11: 86,586,526 (GRCm39) probably benign Het
Dgkh T G 14: 78,853,710 (GRCm39) I439L possibly damaging Het
Dnajc16 G A 4: 141,491,008 (GRCm39) T714I possibly damaging Het
Fam13a A T 6: 58,933,065 (GRCm39) I349N probably damaging Het
Fig4 C T 10: 41,132,514 (GRCm39) D431N probably benign Het
Gabra4 A T 5: 71,798,429 (GRCm39) N183K possibly damaging Het
Ggt5 C T 10: 75,445,944 (GRCm39) probably benign Het
Hdac6 A G X: 7,798,418 (GRCm39) L798P probably damaging Het
Hectd4 T C 5: 121,456,714 (GRCm39) V2030A probably benign Het
Hecw2 A G 1: 53,866,120 (GRCm39) Y1514H probably damaging Het
Hmcn1 T C 1: 150,480,823 (GRCm39) D4451G probably benign Het
Krtcap3 T C 5: 31,409,167 (GRCm39) probably benign Het
Ltn1 A T 16: 87,217,695 (GRCm39) probably benign Het
Mical3 A T 6: 120,935,537 (GRCm39) I1663N probably benign Het
Mvp G T 7: 126,601,133 (GRCm39) probably benign Het
Myo5c A G 9: 75,170,324 (GRCm39) I485V probably damaging Het
N4bp2 T A 5: 65,960,890 (GRCm39) C520* probably null Het
Nos2 A G 11: 78,836,689 (GRCm39) probably benign Het
Ogdh G A 11: 6,305,069 (GRCm39) V925M probably damaging Het
Pde2a T A 7: 101,151,143 (GRCm39) probably benign Het
Plpp6 A G 19: 28,942,279 (GRCm39) *293W probably null Het
Pole T A 5: 110,451,750 (GRCm39) I864K probably damaging Het
Rexo4 A T 2: 26,850,645 (GRCm39) I239N probably benign Het
Scn1a T A 2: 66,152,687 (GRCm39) I748F probably damaging Het
Sfmbt2 A T 2: 10,584,165 (GRCm39) R841* probably null Het
Sh3bp5l A G 11: 58,228,827 (GRCm39) N100S probably damaging Het
Spic T A 10: 88,511,623 (GRCm39) D211V probably damaging Het
Stab2 A G 10: 86,776,477 (GRCm39) probably benign Het
Tshr A G 12: 91,478,708 (GRCm39) Y83C probably damaging Het
Vsir A G 10: 60,204,373 (GRCm39) E172G probably damaging Het
Wwp2 T C 8: 108,276,413 (GRCm39) S508P probably damaging Het
Other mutations in Mapkapk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0015:Mapkapk2 UTSW 1 131,025,063 (GRCm39) missense possibly damaging 0.79
R0318:Mapkapk2 UTSW 1 131,025,072 (GRCm39) missense probably damaging 0.99
R1234:Mapkapk2 UTSW 1 130,983,513 (GRCm39) nonsense probably null
R1755:Mapkapk2 UTSW 1 130,986,087 (GRCm39) critical splice donor site probably null
R1765:Mapkapk2 UTSW 1 130,986,498 (GRCm39) start codon destroyed probably null 0.09
R3907:Mapkapk2 UTSW 1 130,984,651 (GRCm39) missense probably damaging 1.00
R5949:Mapkapk2 UTSW 1 130,985,742 (GRCm39) missense possibly damaging 0.95
R6838:Mapkapk2 UTSW 1 130,985,740 (GRCm39) nonsense probably null
R7445:Mapkapk2 UTSW 1 131,025,256 (GRCm39) missense unknown
R7802:Mapkapk2 UTSW 1 130,984,639 (GRCm39) missense possibly damaging 0.51
R7839:Mapkapk2 UTSW 1 131,025,256 (GRCm39) missense unknown
R8710:Mapkapk2 UTSW 1 130,986,448 (GRCm39) missense possibly damaging 0.81
R8773:Mapkapk2 UTSW 1 130,983,679 (GRCm39) missense probably damaging 0.97
RF002:Mapkapk2 UTSW 1 130,984,250 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03