Incidental Mutation 'R1186:Mapk9'
ID 102156
Institutional Source Beutler Lab
Gene Symbol Mapk9
Ensembl Gene ENSMUSG00000020366
Gene Name mitogen-activated protein kinase 9
Synonyms c-Jun N-terminal kinase, Prkm9, JNK2, JNK/SAPK alpha
MMRRC Submission 039258-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.342) question?
Stock # R1186 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 49737578-49777248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49769096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 243 (T243A)
Ref Sequence ENSEMBL: ENSMUSP00000136977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020634] [ENSMUST00000043321] [ENSMUST00000102778] [ENSMUST00000109178] [ENSMUST00000109179] [ENSMUST00000164643] [ENSMUST00000178543]
AlphaFold Q9WTU6
Predicted Effect probably damaging
Transcript: ENSMUST00000020634
AA Change: T243A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020634
Gene: ENSMUSG00000020366
AA Change: T243A

DomainStartEndE-ValueType
S_TKc 26 321 4.01e-87 SMART
low complexity region 387 399 N/A INTRINSIC
low complexity region 403 416 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000043321
AA Change: T243A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042744
Gene: ENSMUSG00000020366
AA Change: T243A

DomainStartEndE-ValueType
S_TKc 26 321 7.6e-88 SMART
low complexity region 387 399 N/A INTRINSIC
low complexity region 403 416 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000102778
AA Change: T243A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099839
Gene: ENSMUSG00000020366
AA Change: T243A

DomainStartEndE-ValueType
S_TKc 26 321 7.6e-88 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109178
AA Change: T243A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104807
Gene: ENSMUSG00000020366
AA Change: T243A

DomainStartEndE-ValueType
S_TKc 26 321 4.01e-87 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109179
AA Change: T243A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104808
Gene: ENSMUSG00000020366
AA Change: T243A

DomainStartEndE-ValueType
S_TKc 26 321 7.6e-88 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144857
Predicted Effect probably damaging
Transcript: ENSMUST00000164643
AA Change: T243A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132864
Gene: ENSMUSG00000020366
AA Change: T243A

DomainStartEndE-ValueType
S_TKc 26 321 4.01e-87 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000178543
AA Change: T243A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136977
Gene: ENSMUSG00000020366
AA Change: T243A

DomainStartEndE-ValueType
S_TKc 26 321 7.6e-88 SMART
low complexity region 387 399 N/A INTRINSIC
low complexity region 403 416 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148274
Meta Mutation Damage Score 0.3869 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.5%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency 97% (69/71)
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 targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene's mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygotes for a null allele show resistance to TNF-induced liver injury, impaired TH1 cell differentiation, and enhanced epidermal differentiation and proliferation. Homozygotes for a reporter allele show impaired T-cell activation and apoptosis, resistance to I-R cardiac injury, and reduced LTP. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik G A 10: 21,497,551 (GRCm39) R64Q probably benign Het
9530068E07Rik G A 11: 52,293,905 (GRCm39) V49I probably benign Het
A2m T C 6: 121,638,493 (GRCm39) S902P probably benign Het
Aatf A T 11: 84,361,375 (GRCm39) probably benign Het
Adamtsl1 A G 4: 86,306,746 (GRCm39) T1395A probably benign Het
Alpk2 T C 18: 65,427,412 (GRCm39) probably null Het
Ank3 G T 10: 69,703,290 (GRCm39) A308S probably damaging Het
Arap1 A G 7: 101,053,476 (GRCm39) probably benign Het
Bltp1 T C 3: 37,050,461 (GRCm39) probably benign Het
C4b T C 17: 34,955,283 (GRCm39) D769G possibly damaging Het
Cep350 A G 1: 155,751,122 (GRCm39) S2017P probably damaging Het
Cfap54 T A 10: 92,711,856 (GRCm39) I2704F unknown Het
Crip2 G A 12: 113,108,579 (GRCm39) probably benign Het
Cyp4f14 T C 17: 33,135,760 (GRCm39) I34V probably benign Het
Dcstamp A G 15: 39,618,025 (GRCm39) probably null Het
Ddx5 T C 11: 106,674,805 (GRCm39) probably null Het
Dnah2 A T 11: 69,406,526 (GRCm39) L572Q probably damaging Het
Espl1 G A 15: 102,212,474 (GRCm39) A527T probably benign Het
Fam83d A G 2: 158,627,094 (GRCm39) D261G probably damaging Het
Fbxo34 T C 14: 47,768,043 (GRCm39) F468L probably damaging Het
Gabarapl1 A T 6: 129,510,368 (GRCm39) probably benign Het
Galnt17 G T 5: 131,140,580 (GRCm39) T179K probably damaging Het
Gm6899 C T 11: 26,543,685 (GRCm39) probably benign Het
Helz2 T A 2: 180,872,921 (GRCm39) R2433W probably damaging Het
Hivep3 T C 4: 119,671,920 (GRCm39) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ica1 A G 6: 8,672,326 (GRCm39) L225P probably damaging Het
Inpp5f T C 7: 128,296,307 (GRCm39) I195T probably benign Het
Isyna1 C A 8: 71,047,851 (GRCm39) N115K probably benign Het
Ly6g6e T C 17: 35,296,984 (GRCm39) F75S probably benign Het
Ly96 A G 1: 16,771,118 (GRCm39) D101G possibly damaging Het
Mcc A G 18: 44,892,470 (GRCm39) V48A probably benign Het
Mcpt2 C T 14: 56,281,402 (GRCm39) probably benign Het
Med24 T C 11: 98,608,583 (GRCm39) probably benign Het
Mtbp G A 15: 55,428,067 (GRCm39) G162S probably null Het
Mtfr2 G A 10: 20,228,598 (GRCm39) C48Y probably benign Het
Naip2 AGGG AGG 13: 100,298,545 (GRCm39) probably null Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Ncoa4-ps A C 12: 119,225,206 (GRCm39) noncoding transcript Het
Nup107 A C 10: 117,613,051 (GRCm39) Y292* probably null Het
Nwd2 C T 5: 63,807,367 (GRCm39) probably benign Het
Nxpe4 A C 9: 48,304,692 (GRCm39) N260H probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or6z7 T C 7: 6,483,541 (GRCm39) I205V probably benign Het
Or8b42 T C 9: 38,342,397 (GRCm39) V273A possibly damaging Het
Or8b47 T C 9: 38,435,453 (GRCm39) S142P probably damaging Het
Or8k37 A T 2: 86,469,807 (GRCm39) L82M probably damaging Het
P2rx7 T C 5: 122,808,514 (GRCm39) Y299H probably damaging Het
Per3 T A 4: 151,110,595 (GRCm39) E401V probably damaging Het
Rbm34 C A 8: 127,692,197 (GRCm39) E182* probably null Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Senp2 T C 16: 21,830,254 (GRCm39) S38P probably damaging Het
Slc36a2 A T 11: 55,055,057 (GRCm39) probably null Het
Spred1 A T 2: 117,008,178 (GRCm39) R361S possibly damaging Het
Spry2 A G 14: 106,130,341 (GRCm39) C282R probably damaging Het
Srp54b T C 12: 55,302,313 (GRCm39) probably benign Het
Taar8c G C 10: 23,977,463 (GRCm39) Y116* probably null Het
Tchh C G 3: 93,355,353 (GRCm39) R1598G unknown Het
Tex15 A G 8: 34,061,661 (GRCm39) M364V probably benign Het
Ttbk1 T C 17: 46,778,057 (GRCm39) R662G probably damaging Het
Ttc5 G A 14: 51,004,683 (GRCm39) Q374* probably null Het
Usp46 C T 5: 74,162,783 (GRCm39) A312T probably benign Het
Vmn1r176 A T 7: 23,535,051 (GRCm39) L34Q probably damaging Het
Vmn1r178 A T 7: 23,593,317 (GRCm39) R122* probably null Het
Vmn2r6 T A 3: 64,472,488 (GRCm39) M78L probably benign Het
Zfp407 A T 18: 84,227,573 (GRCm39) I2012N probably benign Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S probably benign Het
Zfyve26 G A 12: 79,310,723 (GRCm39) L161F probably damaging Het
Other mutations in Mapk9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03085:Mapk9 APN 11 49,757,865 (GRCm39) missense probably damaging 1.00
IGL03399:Mapk9 APN 11 49,774,126 (GRCm39) utr 3 prime probably benign
Infirm UTSW 11 49,754,383 (GRCm39) missense probably damaging 1.00
R0003:Mapk9 UTSW 11 49,757,866 (GRCm39) missense possibly damaging 0.52
R0610:Mapk9 UTSW 11 49,754,400 (GRCm39) missense probably benign 0.00
R0676:Mapk9 UTSW 11 49,773,983 (GRCm39) makesense probably null
R0681:Mapk9 UTSW 11 49,760,072 (GRCm39) missense probably damaging 1.00
R0736:Mapk9 UTSW 11 49,774,081 (GRCm39) missense possibly damaging 0.58
R1964:Mapk9 UTSW 11 49,745,160 (GRCm39) missense probably null 1.00
R2424:Mapk9 UTSW 11 49,754,499 (GRCm39) missense probably damaging 1.00
R4876:Mapk9 UTSW 11 49,745,152 (GRCm39) missense probably damaging 0.97
R6191:Mapk9 UTSW 11 49,754,383 (GRCm39) missense probably damaging 1.00
R7059:Mapk9 UTSW 11 49,757,874 (GRCm39) splice site probably null
R7484:Mapk9 UTSW 11 49,763,663 (GRCm39) missense probably damaging 0.97
R7951:Mapk9 UTSW 11 49,754,422 (GRCm39) missense probably damaging 1.00
R8834:Mapk9 UTSW 11 49,774,010 (GRCm39) missense probably damaging 1.00
R9104:Mapk9 UTSW 11 49,760,000 (GRCm39) missense probably damaging 1.00
R9158:Mapk9 UTSW 11 49,745,095 (GRCm39) missense probably benign 0.02
R9176:Mapk9 UTSW 11 49,763,565 (GRCm39) nonsense probably null
R9573:Mapk9 UTSW 11 49,769,239 (GRCm39) missense probably damaging 0.99
RF010:Mapk9 UTSW 11 49,745,083 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TCTGAGATAGGCCAGAACCCAAGC -3'
(R):5'- CTGCACCTCTTGACATACACGGAC -3'

Sequencing Primer
(F):5'- AGACCTGTAAATCTCAGGTAGC -3'
(R):5'- ACCTCTTGACATACACGGACTTTAG -3'
Posted On 2014-01-15