Incidental Mutation 'R0862:Mapk8'
ID 82165
Institutional Source Beutler Lab
Gene Symbol Mapk8
Ensembl Gene ENSMUSG00000021936
Gene Name mitogen-activated protein kinase 8
Synonyms c-Jun N-terminal kinase, Prkm8, JNK1
MMRRC Submission 039036-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.743) question?
Stock # R0862 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 33099855-33169115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33114949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 189 (R189H)
Ref Sequence ENSEMBL: ENSMUSP00000107575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022504] [ENSMUST00000111942] [ENSMUST00000111943] [ENSMUST00000111944] [ENSMUST00000111945] [ENSMUST00000226798]
AlphaFold Q91Y86
Predicted Effect possibly damaging
Transcript: ENSMUST00000022504
AA Change: R189H

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022504
Gene: ENSMUSG00000021936
AA Change: R189H

DomainStartEndE-ValueType
S_TKc 26 321 1.3e-86 SMART
low complexity region 390 403 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111942
AA Change: R189H

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107573
Gene: ENSMUSG00000021936
AA Change: R189H

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 26 208 1.8e-25 PFAM
Pfam:Pkinase 26 210 5.2e-48 PFAM
Pfam:Kdo 33 178 6.4e-9 PFAM
SCOP:d1pme__ 216 286 2e-17 SMART
PDB:3GP0|A 218 288 4e-11 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000111943
AA Change: R189H

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000107574
Gene: ENSMUSG00000021936
AA Change: R189H

DomainStartEndE-ValueType
S_TKc 26 321 1.3e-86 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111944
AA Change: R189H

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107575
Gene: ENSMUSG00000021936
AA Change: R189H

DomainStartEndE-ValueType
S_TKc 26 321 1.06e-86 SMART
low complexity region 390 403 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111945
AA Change: R189H

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107576
Gene: ENSMUSG00000021936
AA Change: R189H

DomainStartEndE-ValueType
S_TKc 26 321 1.06e-86 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227306
Predicted Effect probably benign
Transcript: ENSMUST00000226798
Meta Mutation Damage Score 0.8392 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 94.9%
  • 20x: 87.0%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various cell stimuli, and targets specific transcription factors, and thus mediates immediate-early gene expression in response to cell stimuli. The activation of this kinase by tumor-necrosis factor alpha (TNF-alpha) is found to be required for TNF-alpha induced apoptosis. This kinase is also involved in UV radiation induced apoptosis, which is thought to be related to cytochrom c-mediated cell death pathway. Studies of the mouse counterpart of this gene suggested that this kinase play a key role in T cell proliferation, apoptosis and differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal T cell differentiation and proliferation, cardiac morphology and physiology, and chemically-induced tumorigenesis. Mice homozygous for another knock-out allele exhibit abnormal glucose homeostasis and T cell physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
9230009I02Rik T C 11: 50,982,144 (GRCm39) noncoding transcript Het
Adamts13 G A 2: 26,896,336 (GRCm39) probably null Het
Chac1 C A 2: 119,183,950 (GRCm39) A184E probably damaging Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Csmd1 T A 8: 16,240,040 (GRCm39) Y1124F probably damaging Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
Dyrk4 T C 6: 126,854,296 (GRCm39) E499G possibly damaging Het
Fat1 T A 8: 45,471,074 (GRCm39) I1603N probably damaging Het
Fbn1 A T 2: 125,184,811 (GRCm39) C1660* probably null Het
Gapt G C 13: 110,490,273 (GRCm39) T130R probably damaging Het
Gm19684 A T 17: 36,432,792 (GRCm39) probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Map4 A G 9: 109,808,037 (GRCm39) Y34C probably damaging Het
Mgst1 C T 6: 138,124,749 (GRCm39) T21M probably damaging Het
Msh2 A G 17: 87,987,480 (GRCm39) T207A probably benign Het
Mthfd2 A G 6: 83,290,376 (GRCm39) V85A probably damaging Het
Muc4 A G 16: 32,570,820 (GRCm39) S627G probably benign Het
Nbeal2 G A 9: 110,457,263 (GRCm39) T2266I probably damaging Het
Or51b6b T C 7: 103,309,735 (GRCm39) T241A probably damaging Het
Or7g16 T C 9: 18,727,002 (GRCm39) Y196C probably damaging Het
Or8d1 T C 9: 38,766,478 (GRCm39) V40A possibly damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Pdcd6ip A T 9: 113,503,578 (GRCm39) probably benign Het
Piwil2 T C 14: 70,632,823 (GRCm39) D583G probably benign Het
Plin4 T A 17: 56,410,966 (GRCm39) M1022L probably benign Het
Rbm48 A G 5: 3,640,438 (GRCm39) S314P probably benign Het
Rbms3 A T 9: 117,458,860 (GRCm39) probably benign Het
Snx14 A T 9: 88,266,049 (GRCm39) S726T possibly damaging Het
Trim43c A T 9: 88,725,087 (GRCm39) H202L probably benign Het
Trip12 A G 1: 84,721,730 (GRCm39) F1334S probably damaging Het
Tyk2 T C 9: 21,027,463 (GRCm39) H503R probably benign Het
Ubr2 G A 17: 47,278,009 (GRCm39) Q745* probably null Het
Ush2a T A 1: 188,275,015 (GRCm39) Y1829* probably null Het
Vmn2r65 T A 7: 84,592,853 (GRCm39) E451D probably benign Het
Other mutations in Mapk8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01478:Mapk8 APN 14 33,105,857 (GRCm39) missense probably benign 0.01
daughter UTSW 14 33,112,686 (GRCm39) missense probably damaging 1.00
son UTSW 14 33,124,615 (GRCm39) missense probably damaging 1.00
R0255:Mapk8 UTSW 14 33,109,264 (GRCm39) splice site probably benign
R0401:Mapk8 UTSW 14 33,104,165 (GRCm39) missense probably benign 0.37
R0864:Mapk8 UTSW 14 33,114,949 (GRCm39) missense probably damaging 0.98
R1084:Mapk8 UTSW 14 33,110,760 (GRCm39) nonsense probably null
R1637:Mapk8 UTSW 14 33,132,919 (GRCm39) missense probably benign 0.00
R2038:Mapk8 UTSW 14 33,110,893 (GRCm39) nonsense probably null
R3959:Mapk8 UTSW 14 33,104,210 (GRCm39) missense probably null 0.21
R4087:Mapk8 UTSW 14 33,112,205 (GRCm39) missense probably benign 0.00
R4181:Mapk8 UTSW 14 33,104,177 (GRCm39) missense probably damaging 1.00
R4183:Mapk8 UTSW 14 33,104,177 (GRCm39) missense probably damaging 1.00
R4184:Mapk8 UTSW 14 33,104,177 (GRCm39) missense probably damaging 1.00
R5366:Mapk8 UTSW 14 33,112,686 (GRCm39) missense probably damaging 1.00
R6076:Mapk8 UTSW 14 33,112,250 (GRCm39) missense probably damaging 1.00
R6991:Mapk8 UTSW 14 33,132,841 (GRCm39) missense possibly damaging 0.82
R7345:Mapk8 UTSW 14 33,130,068 (GRCm39) missense probably damaging 0.99
R7814:Mapk8 UTSW 14 33,132,834 (GRCm39) nonsense probably null
R8194:Mapk8 UTSW 14 33,104,241 (GRCm39) missense probably benign
R8550:Mapk8 UTSW 14 33,124,615 (GRCm39) missense probably damaging 1.00
Z1176:Mapk8 UTSW 14 33,132,843 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCATGCTTTCCCAAACATTCACGG -3'
(R):5'- GGGTTTGCCTATGGTAAGGAACCTC -3'

Sequencing Primer
(F):5'- GGCAAAACGTTCAAATCCTGG -3'
(R):5'- CAGTGGTCCTGCAGACTATGTA -3'
Posted On 2013-11-08