Incidental Mutation 'R1234:Mapkapk2'
ID 152372
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 039302-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1234 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 130981437-131025563 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 130983513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 334 (R334*)
Ref Sequence ENSEMBL: ENSMUSP00000016672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016672] [ENSMUST00000188459]
AlphaFold P49138
Predicted Effect probably null
Transcript: ENSMUST00000016672
AA Change: R334*
SMART Domains Protein: ENSMUSP00000016672
Gene: ENSMUSG00000016528
AA Change: R334*

DomainStartEndE-ValueType
low complexity region 6 32 N/A INTRINSIC
S_TKc 50 311 1.26e-93 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188459
SMART Domains Protein: ENSMUSP00000141124
Gene: ENSMUSG00000016528

DomainStartEndE-ValueType
S_TKc 1 160 4.5e-4 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccn1 A G 3: 145,355,594 (GRCm39) probably benign Het
Cd300e T A 11: 114,946,192 (GRCm39) I90F probably damaging Het
Dclk1 T C 3: 55,397,298 (GRCm39) I528T probably damaging Het
Dnajc13 T C 9: 104,091,356 (GRCm39) N645S possibly damaging Het
Efhb A T 17: 53,758,615 (GRCm39) Y340* probably null Het
Fhod1 T C 8: 106,063,795 (GRCm39) probably benign Het
Hk2 G A 6: 82,737,229 (GRCm39) H28Y possibly damaging Het
Hmcn1 G A 1: 150,629,405 (GRCm39) R951* probably null Het
Insyn1 AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 9: 58,406,715 (GRCm39) probably benign Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Psg18 A T 7: 18,083,115 (GRCm39) S347T probably damaging Het
Ptk6 C T 2: 180,844,233 (GRCm39) R22Q possibly damaging Het
Samd4b C T 7: 28,113,435 (GRCm39) G177R probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Ssrp1 T C 2: 84,872,607 (GRCm39) F415S probably damaging Het
Stab1 A G 14: 30,872,193 (GRCm39) L1198P probably damaging Het
Tcf23 T C 5: 31,127,566 (GRCm39) Y123H probably damaging Het
Vars2 T C 17: 35,978,038 (GRCm39) N43S probably damaging Het
Vmn2r79 A T 7: 86,653,307 (GRCm39) E524V possibly damaging Het
Xrcc1 T C 7: 24,267,270 (GRCm39) V373A possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- AAGCCAGTGAAGGCAATGGCTC -3'
(R):5'- TCTGCCTCACCCCATAGTGAAGATG -3'

Sequencing Primer
(F):5'- GCAATGGCTCCCAGTCAC -3'
(R):5'- CCCATAGTGAAGATGCTTATCCG -3'
Posted On 2014-01-29