Incidental Mutation 'IGL01503:Mapkapk2'
ID88960
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapkapk2
Ensembl Gene ENSMUSG00000016528
Gene NameMAP kinase-activated protein kinase 2
SynonymsMAPKAP kinase 2, Rps6kc1, MK2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01503
Quality Score
Status
Chromosome1
Chromosomal Location131053700-131097826 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to C at 131058762 bp
ZygosityHeterozygous
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]
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: 89,174,869 Y26* probably null Het
Arpc1a T C 5: 145,096,154 V91A probably damaging Het
Atp2a1 T A 7: 126,448,578 I687F probably damaging Het
B3gnt5 A C 16: 19,769,781 Y250S probably damaging Het
Brip1 A G 11: 86,061,877 V1026A probably benign Het
C1s2 T C 6: 124,625,653 D527G probably damaging Het
Chrna5 T A 9: 54,998,171 probably benign Het
Cltc C A 11: 86,695,700 probably benign Het
Dgkh T G 14: 78,616,270 I439L possibly damaging Het
Dnajc16 G A 4: 141,763,697 T714I possibly damaging Het
Fam13a A T 6: 58,956,080 I349N probably damaging Het
Fig4 C T 10: 41,256,518 D431N probably benign Het
Gabra4 A T 5: 71,641,086 N183K possibly damaging Het
Ggt5 C T 10: 75,610,110 probably benign Het
Gm436 T A 4: 144,674,567 I116F probably damaging Het
Hdac6 A G X: 7,932,179 L798P probably damaging Het
Hectd4 T C 5: 121,318,651 V2030A probably benign Het
Hecw2 A G 1: 53,826,961 Y1514H probably damaging Het
Hmcn1 T C 1: 150,605,072 D4451G probably benign Het
Krtcap3 T C 5: 31,251,823 probably benign Het
Ltn1 A T 16: 87,420,807 probably benign Het
Mical3 A T 6: 120,958,576 I1663N probably benign Het
Mvp G T 7: 127,001,961 probably benign Het
Myo5c A G 9: 75,263,042 I485V probably damaging Het
N4bp2 T A 5: 65,803,547 C520* probably null Het
Nos2 A G 11: 78,945,863 probably benign Het
Ogdh G A 11: 6,355,069 V925M probably damaging Het
Pde2a T A 7: 101,501,936 probably benign Het
Plpp6 A G 19: 28,964,879 *293W probably null Het
Pole T A 5: 110,303,884 I864K probably damaging Het
Rexo4 A T 2: 26,960,633 I239N probably benign Het
Scn1a T A 2: 66,322,343 I748F probably damaging Het
Sfmbt2 A T 2: 10,579,354 R841* probably null Het
Sh3bp5l A G 11: 58,338,001 N100S probably damaging Het
Spic T A 10: 88,675,761 D211V probably damaging Het
Stab2 A G 10: 86,940,613 probably benign Het
Tshr A G 12: 91,511,934 Y83C probably damaging Het
Vsir A G 10: 60,368,594 E172G probably damaging Het
Wwp2 T C 8: 107,549,781 S508P probably damaging Het
Other mutations in Mapkapk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0015:Mapkapk2 UTSW 1 131097326 missense possibly damaging 0.79
R0318:Mapkapk2 UTSW 1 131097335 missense probably damaging 0.99
R1234:Mapkapk2 UTSW 1 131055776 nonsense probably null
R1755:Mapkapk2 UTSW 1 131058350 critical splice donor site probably null
R1765:Mapkapk2 UTSW 1 131058761 start codon destroyed probably null 0.09
R3907:Mapkapk2 UTSW 1 131056914 missense probably damaging 1.00
R5949:Mapkapk2 UTSW 1 131058005 missense possibly damaging 0.95
R6838:Mapkapk2 UTSW 1 131058003 nonsense probably null
R7445:Mapkapk2 UTSW 1 131097519 missense unknown
R7802:Mapkapk2 UTSW 1 131056902 missense possibly damaging 0.51
R7839:Mapkapk2 UTSW 1 131097519 missense unknown
R8710:Mapkapk2 UTSW 1 131058711 missense possibly damaging 0.81
R8773:Mapkapk2 UTSW 1 131055942 missense probably damaging 0.97
RF002:Mapkapk2 UTSW 1 131056513 missense probably damaging 1.00
Posted On2013-12-03