Incidental Mutation 'R5949:Mapkapk2'
ID 472304
Institutional Source Beutler Lab
Gene Symbol Mapkapk2
Ensembl Gene ENSMUSG00000016528
Gene Name MAP kinase-activated protein kinase 2
Synonyms MAPKAP kinase 2, Rps6kc1, MK2
MMRRC Submission 044139-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5949 (G1)
Quality Score 215
Status Validated
Chromosome 1
Chromosomal Location 130981437-131025563 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130985742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 173 (V173A)
Ref Sequence ENSEMBL: ENSMUSP00000016672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016672] [ENSMUST00000188459]
AlphaFold P49138
Predicted Effect possibly damaging
Transcript: ENSMUST00000016672
AA Change: V173A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000016672
Gene: ENSMUSG00000016528
AA Change: V173A

DomainStartEndE-ValueType
low complexity region 6 32 N/A INTRINSIC
S_TKc 50 311 1.26e-93 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000188459
AA Change: V94A

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141124
Gene: ENSMUSG00000016528
AA Change: V94A

DomainStartEndE-ValueType
S_TKc 1 160 4.5e-4 SMART
Meta Mutation Damage Score 0.2895 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 92% (58/63)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,655,032 (GRCm39) Y1452C probably damaging Het
Adcy10 A T 1: 165,367,386 (GRCm39) H552L possibly damaging Het
Alms1-ps1 A T 6: 85,698,943 (GRCm39) noncoding transcript Het
Arhgap21 A G 2: 20,853,852 (GRCm39) S1837P probably damaging Het
Atad5 G T 11: 79,986,835 (GRCm39) E641* probably null Het
Atp8b4 T A 2: 126,247,242 (GRCm39) T276S probably benign Het
Bptf A G 11: 107,001,915 (GRCm39) I399T probably damaging Het
Carf A C 1: 60,178,472 (GRCm39) K295T probably damaging Het
Cd209d T A 8: 3,927,949 (GRCm39) N52Y possibly damaging Het
Cdh2 T A 18: 16,734,687 (GRCm39) I779F probably damaging Het
Cdon G A 9: 35,398,247 (GRCm39) R988H probably benign Het
Cfhr4 A T 1: 139,660,887 (GRCm39) H600Q probably damaging Het
Cic C T 7: 24,971,730 (GRCm39) T487M probably damaging Het
Dcps A G 9: 35,036,557 (GRCm39) probably benign Het
Ddx41 A G 13: 55,679,874 (GRCm39) C427R probably damaging Het
Diras2 T C 13: 52,661,747 (GRCm39) K187E possibly damaging Het
Emb A G 13: 117,403,928 (GRCm39) I227V probably benign Het
Fam193a T A 5: 34,597,816 (GRCm39) S538T possibly damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Galnt6 A T 15: 100,594,431 (GRCm39) N533K probably damaging Het
Grip1 A G 10: 119,886,147 (GRCm39) D499G probably benign Het
Ifih1 T C 2: 62,440,904 (GRCm39) N421D probably benign Het
Ifng G C 10: 118,278,529 (GRCm39) M63I probably benign Het
Ighv1-43 A G 12: 114,910,002 (GRCm39) M1T probably null Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Krt87 A T 15: 101,385,476 (GRCm39) C299S probably damaging Het
Lrrn1 G T 6: 107,544,465 (GRCm39) V88L probably benign Het
Mrap2 T G 9: 87,064,658 (GRCm39) V133G probably benign Het
Nlrp1a T A 11: 70,989,815 (GRCm39) D984V probably damaging Het
Or4c125 A G 2: 89,170,229 (GRCm39) V139A probably damaging Het
Or5p59 T C 7: 107,703,404 (GRCm39) L296P probably damaging Het
Pcdh17 T C 14: 84,684,996 (GRCm39) Y488H probably damaging Het
Pih1d2 C T 9: 50,536,284 (GRCm39) P313L probably damaging Het
Ralgapb T C 2: 158,296,179 (GRCm39) C839R probably damaging Het
Rdh5 C A 10: 128,754,136 (GRCm39) R29L probably benign Het
Rfx6 A G 10: 51,554,429 (GRCm39) D90G probably benign Het
Rnf213 A G 11: 119,333,905 (GRCm39) Y3038C probably damaging Het
Sec14l2 A T 11: 4,058,972 (GRCm39) V191D probably damaging Het
Slc3a2 T C 19: 8,690,759 (GRCm39) Y118C probably damaging Het
Sorbs2 T C 8: 46,222,934 (GRCm39) probably null Het
Stab2 A G 10: 86,805,713 (GRCm39) L211P possibly damaging Het
Tbc1d9b T C 11: 50,038,876 (GRCm39) C289R probably benign Het
Tfpi T C 2: 84,275,092 (GRCm39) E172G probably benign Het
Tmem106b T A 6: 13,083,418 (GRCm39) M229K probably damaging Het
Tsfm G A 10: 126,864,244 (GRCm39) T157M probably damaging Het
Tshr G A 12: 91,503,992 (GRCm39) R310H probably damaging Het
Ttn G A 2: 76,608,244 (GRCm39) A17893V possibly damaging Het
Vps39 A G 2: 120,159,149 (GRCm39) Y380H probably benign Het
Xylt2 G A 11: 94,559,309 (GRCm39) R383C probably damaging Het
Zfp719 C T 7: 43,233,541 (GRCm39) probably benign Het
Other mutations in Mapkapk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01503:Mapkapk2 APN 1 130,986,499 (GRCm39) start codon destroyed probably null
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
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
Predicted Primers PCR Primer
(F):5'- AATCCATGTGTGGGACGGTG -3'
(R):5'- TCTTTGAAGGGCCCTGTCAC -3'

Sequencing Primer
(F):5'- ACGGTGAGGTGCTGACG -3'
(R):5'- TTAGCCATGGCAGGGTCAG -3'
Posted On 2017-03-31