Incidental Mutation 'R1148:Mapk12'
ID 102540
Institutional Source Beutler Lab
Gene Symbol Mapk12
Ensembl Gene ENSMUSG00000022610
Gene Name mitogen-activated protein kinase 12
Synonyms Sapk3, P38gamma, Prkm12, Erk6
MMRRC Submission 039221-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1148 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 89014787-89024906 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89018826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 203 (Y203C)
Ref Sequence ENSEMBL: ENSMUSP00000086207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088827]
AlphaFold O08911
Predicted Effect probably damaging
Transcript: ENSMUST00000088827
AA Change: Y203C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086207
Gene: ENSMUSG00000022610
AA Change: Y203C

DomainStartEndE-ValueType
S_TKc 27 311 1.63e-96 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231056
Meta Mutation Damage Score 0.9188 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 97.8%
  • 10x: 90.3%
  • 20x: 69.2%
Validation Efficiency 100% (35/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Activation of members of the mitogen-activated protein kinase family is a major mechanism for transduction of extracellular signals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this gene functions as a signal transducer during differentiation of myoblasts to myotubes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile with no obvious abnormalities. Mice homozygous for a conditional allele activated in muscle cell exhibit decreased endurance exercise-induced mitochondrial biogenesis and angiogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,767,544 (GRCm39) S14P probably damaging Het
Ablim2 T C 5: 35,966,605 (GRCm39) F178S probably damaging Het
Alg10b T C 15: 90,112,068 (GRCm39) F304S possibly damaging Het
Ank3 C T 10: 69,718,369 (GRCm39) S540F probably damaging Het
Arhgef16 T C 4: 154,365,346 (GRCm39) N590D probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Cfap58 C T 19: 47,976,943 (GRCm39) H731Y probably damaging Het
Cilp T A 9: 65,187,598 (GRCm39) L1231Q possibly damaging Het
Cyp4x1 A G 4: 114,983,752 (GRCm39) probably benign Het
Disp2 G A 2: 118,636,899 (GRCm39) probably null Het
Dnah5 T C 15: 28,421,836 (GRCm39) L3896P probably damaging Het
Dpp8 T C 9: 64,961,114 (GRCm39) probably null Het
Esp4 A C 17: 40,913,262 (GRCm39) N43T probably benign Het
Fat3 T C 9: 15,908,070 (GRCm39) D2644G probably damaging Het
Fgd5 A G 6: 91,964,612 (GRCm39) K124E probably benign Het
Folh1 T C 7: 86,410,938 (GRCm39) D268G probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Hexd A G 11: 121,112,093 (GRCm39) I438V probably benign Het
Lonp2 A G 8: 87,363,168 (GRCm39) E262G probably benign Het
Ly6h G T 15: 75,437,021 (GRCm39) S118R unknown Het
Mapk15 A G 15: 75,870,004 (GRCm39) T375A probably benign Het
Morc2a A G 11: 3,628,557 (GRCm39) N337D probably benign Het
Nsd3 A G 8: 26,203,407 (GRCm39) D1307G probably benign Het
Or5g9 C A 2: 85,552,620 (GRCm39) Y290* probably null Het
Osbpl11 T C 16: 33,047,582 (GRCm39) F515S probably damaging Het
Pcdh15 T C 10: 74,006,392 (GRCm39) V90A probably damaging Het
Ptpn4 T C 1: 119,612,270 (GRCm39) D41G probably damaging Het
Ric1 T C 19: 29,557,249 (GRCm39) Y445H probably benign Het
Sez6l2 C A 7: 126,560,984 (GRCm39) P483Q probably damaging Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Sgo2b A G 8: 64,379,889 (GRCm39) L981P probably damaging Het
Sh3d19 A G 3: 86,014,634 (GRCm39) D475G possibly damaging Het
Shprh T C 10: 11,089,226 (GRCm39) S1655P possibly damaging Het
Slc25a12 G A 2: 71,142,912 (GRCm39) probably benign Het
Strc A G 2: 121,202,558 (GRCm39) probably benign Het
Ttc22 G A 4: 106,480,228 (GRCm39) V161M probably damaging Het
Unc79 T C 12: 103,078,926 (GRCm39) L1504P probably damaging Het
Vldlr A G 19: 27,218,691 (GRCm39) N514S probably benign Het
Other mutations in Mapk12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01843:Mapk12 APN 15 89,021,669 (GRCm39) splice site probably benign
revenge UTSW 15 89,017,350 (GRCm39) missense probably damaging 1.00
R0106:Mapk12 UTSW 15 89,017,187 (GRCm39) unclassified probably benign
R0106:Mapk12 UTSW 15 89,017,187 (GRCm39) unclassified probably benign
R0523:Mapk12 UTSW 15 89,019,848 (GRCm39) missense probably benign 0.12
R1148:Mapk12 UTSW 15 89,018,826 (GRCm39) missense probably damaging 1.00
R1667:Mapk12 UTSW 15 89,024,344 (GRCm39) missense probably damaging 1.00
R3887:Mapk12 UTSW 15 89,019,840 (GRCm39) missense possibly damaging 0.93
R4901:Mapk12 UTSW 15 89,018,841 (GRCm39) nonsense probably null
R7011:Mapk12 UTSW 15 89,019,803 (GRCm39) missense probably damaging 1.00
R7080:Mapk12 UTSW 15 89,017,350 (GRCm39) missense probably damaging 1.00
R7105:Mapk12 UTSW 15 89,015,361 (GRCm39) missense probably benign
R9076:Mapk12 UTSW 15 89,024,611 (GRCm39) missense probably benign 0.02
X0022:Mapk12 UTSW 15 89,021,630 (GRCm39) missense probably damaging 0.99
Predicted Primers
Posted On 2014-01-15