Incidental Mutation 'IGL02971:Mapkapk3'
ID 365800
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 # IGL02971
Quality Score
Status
Chromosome 9
Chromosomal Location 107132126-107167076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107134279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 328 (D328E)
Ref Sequence ENSEMBL: ENSMUSP00000035194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035194] [ENSMUST00000192054]
AlphaFold Q3UMW7
Predicted Effect probably benign
Transcript: ENSMUST00000035194
AA Change: D328E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000035194
Gene: ENSMUSG00000032577
AA Change: D328E

DomainStartEndE-ValueType
low complexity region 10 32 N/A INTRINSIC
S_TKc 45 306 4.97e-92 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155860
Predicted Effect probably benign
Transcript: ENSMUST00000192054
AA Change: I258N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141342
Gene: ENSMUSG00000032577
AA Change: I258N

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik C T 2: 103,953,564 (GRCm39) T130I probably benign Het
Ahi1 T C 10: 20,876,450 (GRCm39) L787P possibly damaging Het
Atf3 A G 1: 190,909,640 (GRCm39) S10P probably benign Het
Cdr2l A G 11: 115,281,726 (GRCm39) N77S probably damaging Het
Cnp A G 11: 100,467,525 (GRCm39) D156G probably benign Het
Cntn3 A T 6: 102,145,894 (GRCm39) D982E probably damaging Het
Col22a1 A G 15: 71,878,587 (GRCm39) L190S probably damaging Het
Csmd3 C T 15: 47,777,325 (GRCm39) probably benign Het
Dnah5 A G 15: 28,384,607 (GRCm39) D3117G probably damaging Het
Dock5 T C 14: 67,994,558 (GRCm39) E1834G probably null Het
Eea1 A G 10: 95,877,389 (GRCm39) T1368A probably benign Het
Fam83f T C 15: 80,556,350 (GRCm39) V78A probably benign Het
Fcgbp G A 7: 27,800,898 (GRCm39) V1315I probably damaging Het
Fsd2 A T 7: 81,198,671 (GRCm39) Y364* probably null Het
Gm21976 G A 13: 98,439,057 (GRCm39) G16R probably null Het
Guca2b A G 4: 119,514,885 (GRCm39) S59P probably damaging Het
Hars2 A G 18: 36,919,231 (GRCm39) E123G probably damaging Het
Hdac2 A T 10: 36,876,370 (GRCm39) K462* probably null Het
Huwe1 T A X: 150,710,622 (GRCm39) probably benign Het
Iqgap3 T A 3: 87,997,611 (GRCm39) N262K probably benign Het
Kat6b A G 14: 21,719,826 (GRCm39) S1502G probably damaging Het
Naca C T 10: 127,877,437 (GRCm39) probably benign Het
Npffr1 T C 10: 61,449,918 (GRCm39) V64A probably damaging Het
Oga A G 19: 45,750,682 (GRCm39) F671S probably damaging Het
Or2t49 A G 11: 58,393,211 (GRCm39) L57P probably damaging Het
Or8b3b T A 9: 38,584,564 (GRCm39) M72L probably damaging Het
Pcca A G 14: 123,126,945 (GRCm39) D718G probably damaging Het
Pde6a A C 18: 61,397,326 (GRCm39) D670A probably damaging Het
Pramel7 T A 2: 87,320,417 (GRCm39) E292V probably benign Het
Prmt9 A C 8: 78,291,698 (GRCm39) M357L probably benign Het
Ptgfr A T 3: 151,540,963 (GRCm39) S182T probably benign Het
Rtraf A T 14: 19,866,260 (GRCm39) M152K possibly damaging Het
Satb1 T C 17: 52,049,717 (GRCm39) D579G possibly damaging Het
Serpinb6a A G 13: 34,115,453 (GRCm39) probably null Het
Slc5a9 T C 4: 111,747,497 (GRCm39) I297V possibly damaging Het
Slf1 T A 13: 77,195,223 (GRCm39) probably benign Het
St8sia2 C T 7: 73,616,559 (GRCm39) V139M probably damaging Het
Tas2r114 T C 6: 131,666,243 (GRCm39) M262V probably benign Het
Tmem147 A G 7: 30,428,847 (GRCm39) probably benign Het
Tmem220 A G 11: 66,924,933 (GRCm39) probably null Het
Uspl1 A G 5: 149,125,156 (GRCm39) N35S possibly damaging Het
Vmn1r170 A T 7: 23,305,759 (GRCm39) I54F possibly damaging Het
Vmn2r121 T G X: 123,037,591 (GRCm39) I810L probably damaging Het
Wbp2nl A T 15: 82,189,945 (GRCm39) T46S possibly damaging Het
Zfp955b T A 17: 33,519,940 (GRCm39) M57K probably benign Het
Other mutations in Mapkapk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02043:Mapkapk3 APN 9 107,139,621 (GRCm39) critical splice donor site probably null
IGL02486:Mapkapk3 APN 9 107,166,467 (GRCm39) missense probably damaging 1.00
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 2015-12-18