Incidental Mutation 'IGL02043:Mapkapk3'
ID 184859
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapkapk3
Ensembl Gene ENSMUSG00000032577
Gene Name mitogen-activated protein kinase-activated protein kinase 3
Synonyms MK3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02043
Quality Score
Status
Chromosome 9
Chromosomal Location 107132126-107167076 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 107139621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035194] [ENSMUST00000035194] [ENSMUST00000134682] [ENSMUST00000192054] [ENSMUST00000192054]
AlphaFold Q3UMW7
Predicted Effect probably null
Transcript: ENSMUST00000035194
SMART Domains Protein: ENSMUSP00000035194
Gene: ENSMUSG00000032577

DomainStartEndE-ValueType
low complexity region 10 32 N/A INTRINSIC
S_TKc 45 306 4.97e-92 SMART
Predicted Effect probably null
Transcript: ENSMUST00000035194
SMART Domains Protein: ENSMUSP00000035194
Gene: ENSMUSG00000032577

DomainStartEndE-ValueType
low complexity region 10 32 N/A INTRINSIC
S_TKc 45 306 4.97e-92 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134682
SMART Domains Protein: ENSMUSP00000120848
Gene: ENSMUSG00000032577

DomainStartEndE-ValueType
low complexity region 35 47 N/A INTRINSIC
low complexity region 69 83 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155860
Predicted Effect probably null
Transcript: ENSMUST00000192054
SMART Domains Protein: ENSMUSP00000141342
Gene: ENSMUSG00000032577

DomainStartEndE-ValueType
low complexity region 10 32 N/A INTRINSIC
Pfam:Pkinase 46 264 6.3e-48 PFAM
Pfam:Pkinase_Tyr 47 259 1.1e-27 PFAM
Pfam:Kdo 80 202 1.1e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000192054
SMART Domains Protein: ENSMUSP00000141342
Gene: ENSMUSG00000032577

DomainStartEndE-ValueType
low complexity region 10 32 N/A INTRINSIC
Pfam:Pkinase 46 264 6.3e-48 PFAM
Pfam:Pkinase_Tyr 47 259 1.1e-27 PFAM
Pfam:Kdo 80 202 1.1e-8 PFAM
Coding Region Coverage
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 functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and display normal tissue morphology, behavior, and LPS-induced production of cytokines. Eyes of homozygous null mice show defects in Bruch's membrane, with disorganized architecture and variability in thickness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1b2 T C 11: 69,496,102 (GRCm39) T33A probably benign Het
Brd2 A T 17: 34,331,590 (GRCm39) probably benign Het
Carmil1 T C 13: 24,208,299 (GRCm39) probably benign Het
Cdh9 A T 15: 16,856,318 (GRCm39) D786V probably damaging Het
Cep128 A C 12: 91,233,504 (GRCm39) probably benign Het
Cep85 T C 4: 133,883,038 (GRCm39) T284A probably benign Het
Chrna1 C T 2: 73,398,450 (GRCm39) E330K probably benign Het
Clec2l T C 6: 38,653,785 (GRCm39) Y104H probably damaging Het
Clybl G T 14: 122,616,664 (GRCm39) K226N probably damaging Het
Cmip T A 8: 118,172,067 (GRCm39) D467E probably benign Het
Cpne3 A T 4: 19,543,340 (GRCm39) probably null Het
Crisp4 A G 1: 18,204,324 (GRCm39) V46A probably damaging Het
Csnk2a1 T C 2: 152,116,070 (GRCm39) Y261H probably damaging Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Czib T G 4: 107,752,065 (GRCm39) probably benign Het
Depdc7 T C 2: 104,560,626 (GRCm39) T123A probably benign Het
Edem2 T C 2: 155,547,661 (GRCm39) T384A probably damaging Het
F8 C T X: 74,376,247 (GRCm39) M377I probably benign Het
Fan1 T A 7: 64,021,367 (GRCm39) probably null Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Gm4841 A C 18: 60,404,037 (GRCm39) S19A probably benign Het
Gm4862 T A 3: 138,834,396 (GRCm39) noncoding transcript Het
Hk3 T A 13: 55,162,908 (GRCm39) Q44L probably damaging Het
Irgm1 C A 11: 48,757,642 (GRCm39) L56F probably damaging Het
Ldlr A G 9: 21,644,795 (GRCm39) T108A probably benign Het
Lgr4 T A 2: 109,841,635 (GRCm39) M516K probably damaging Het
Lrp1b T C 2: 40,587,537 (GRCm39) N3906S probably null Het
Lrrtm4 A G 6: 79,998,845 (GRCm39) N86D possibly damaging Het
Map3k2 A G 18: 32,340,587 (GRCm39) D198G probably damaging Het
Mvp A T 7: 126,592,790 (GRCm39) Y374N probably damaging Het
Myo3a T C 2: 22,404,776 (GRCm39) S711P probably benign Het
Myom3 A G 4: 135,497,986 (GRCm39) K189E probably damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Nlrp10 T C 7: 108,524,709 (GRCm39) E257G probably damaging Het
Nptn T G 9: 58,548,012 (GRCm39) M139R possibly damaging Het
Nrk T G X: 137,889,544 (GRCm39) M1105R possibly damaging Het
Or10a3n A T 7: 108,493,046 (GRCm39) C189* probably null Het
Or10d4 T G 9: 39,580,374 (GRCm39) V7G probably damaging Het
Or1q1 T A 2: 36,887,477 (GRCm39) Y218* probably null Het
Pcdhb16 A G 18: 37,612,248 (GRCm39) T403A probably benign Het
Pcyt1b A G X: 92,745,722 (GRCm39) E50G possibly damaging Het
Pigg C T 5: 108,492,190 (GRCm39) T892I probably damaging Het
Ppig T G 2: 69,566,327 (GRCm39) probably null Het
Prr12 A G 7: 44,699,429 (GRCm39) probably benign Het
Slc5a5 G T 8: 71,345,073 (GRCm39) A78E possibly damaging Het
Slc7a2 T G 8: 41,364,095 (GRCm39) M436R probably benign Het
Sp7 T A 15: 102,267,690 (GRCm39) M39L probably benign Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Svep1 A G 4: 58,068,556 (GRCm39) S3077P probably benign Het
Tmem30a A T 9: 79,681,371 (GRCm39) probably benign Het
Tmem63a C T 1: 180,800,353 (GRCm39) T714I probably benign Het
Trank1 T C 9: 111,193,028 (GRCm39) L535P probably damaging Het
Tuba8 A C 6: 121,197,470 (GRCm39) N44T probably benign Het
Wnk1 A G 6: 119,926,039 (GRCm39) probably benign Het
Zfp654 A T 16: 64,605,391 (GRCm39) I396K probably benign Het
Other mutations in Mapkapk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02486:Mapkapk3 APN 9 107,166,467 (GRCm39) missense probably damaging 1.00
IGL02971:Mapkapk3 APN 9 107,134,279 (GRCm39) missense probably benign 0.00
R1523:Mapkapk3 UTSW 9 107,140,822 (GRCm39) critical splice donor site probably null
R4106:Mapkapk3 UTSW 9 107,134,265 (GRCm39) missense probably damaging 0.99
R4290:Mapkapk3 UTSW 9 107,136,131 (GRCm39) intron probably benign
R4291:Mapkapk3 UTSW 9 107,136,131 (GRCm39) intron probably benign
R4293:Mapkapk3 UTSW 9 107,136,131 (GRCm39) intron probably benign
R4294:Mapkapk3 UTSW 9 107,136,131 (GRCm39) intron probably benign
R4299:Mapkapk3 UTSW 9 107,134,648 (GRCm39) missense probably damaging 1.00
R5433:Mapkapk3 UTSW 9 107,133,491 (GRCm39) missense probably damaging 0.96
R5936:Mapkapk3 UTSW 9 107,166,369 (GRCm39) missense probably damaging 0.96
R6029:Mapkapk3 UTSW 9 107,166,425 (GRCm39) missense possibly damaging 0.86
R6228:Mapkapk3 UTSW 9 107,137,262 (GRCm39) missense probably damaging 1.00
R6520:Mapkapk3 UTSW 9 107,134,648 (GRCm39) missense probably damaging 1.00
R7011:Mapkapk3 UTSW 9 107,166,595 (GRCm39) unclassified probably benign
R7352:Mapkapk3 UTSW 9 107,134,269 (GRCm39) missense possibly damaging 0.83
R9106:Mapkapk3 UTSW 9 107,136,067 (GRCm39) missense probably damaging 0.97
R9227:Mapkapk3 UTSW 9 107,137,354 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07