Incidental Mutation 'IGL02971:Mapkapk3'
ID365800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapkapk3
Ensembl Gene ENSMUSG00000032577
Gene Namemitogen-activated protein kinase-activated protein kinase 3
SynonymsMK3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02971
Quality Score
Status
Chromosome9
Chromosomal Location107254927-107289877 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 107257080 bp
ZygosityHeterozygous
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]
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: 104,123,219 T130I probably benign Het
Ahi1 T C 10: 21,000,551 L787P possibly damaging Het
Atf3 A G 1: 191,177,443 S10P probably benign Het
Cdr2l A G 11: 115,390,900 N77S probably damaging Het
Cnp A G 11: 100,576,699 D156G probably benign Het
Cntn3 A T 6: 102,168,933 D982E probably damaging Het
Col22a1 A G 15: 72,006,738 L190S probably damaging Het
Csmd3 C T 15: 47,913,929 probably benign Het
Dnah5 A G 15: 28,384,461 D3117G probably damaging Het
Dock5 T C 14: 67,757,109 E1834G probably null Het
Eea1 A G 10: 96,041,527 T1368A probably benign Het
Fam83f T C 15: 80,672,149 V78A probably benign Het
Fcgbp G A 7: 28,101,473 V1315I probably damaging Het
Fsd2 A T 7: 81,548,923 Y364* probably null Het
Gm21976 G A 13: 98,302,549 G16R probably null Het
Guca2b A G 4: 119,657,688 S59P probably damaging Het
Hars2 A G 18: 36,786,178 E123G probably damaging Het
Hdac2 A T 10: 37,000,374 K462* probably null Het
Huwe1 T A X: 151,927,626 probably benign Het
Iqgap3 T A 3: 88,090,304 N262K probably benign Het
Kat6b A G 14: 21,669,758 S1502G probably damaging Het
Mgea5 A G 19: 45,762,243 F671S probably damaging Het
Naca C T 10: 128,041,568 probably benign Het
Npffr1 T C 10: 61,614,139 V64A probably damaging Het
Olfr331 A G 11: 58,502,385 L57P probably damaging Het
Olfr918 T A 9: 38,673,268 M72L probably damaging Het
Pcca A G 14: 122,889,533 D718G probably damaging Het
Pde6a A C 18: 61,264,255 D670A probably damaging Het
Pramel7 T A 2: 87,490,073 E292V probably benign Het
Prmt9 A C 8: 77,565,069 M357L probably benign Het
Ptgfr A T 3: 151,835,326 S182T probably benign Het
Rtraf A T 14: 19,816,192 M152K possibly damaging Het
Satb1 T C 17: 51,742,689 D579G possibly damaging Het
Serpinb6a A G 13: 33,931,470 probably null Het
Slc5a9 T C 4: 111,890,300 I297V possibly damaging Het
Slf1 T A 13: 77,047,104 probably benign Het
St8sia2 C T 7: 73,966,811 V139M probably damaging Het
Tas2r114 T C 6: 131,689,280 M262V probably benign Het
Tmem147 A G 7: 30,729,422 probably benign Het
Tmem220 A G 11: 67,034,107 probably null Het
Uspl1 A G 5: 149,188,346 N35S possibly damaging Het
Vmn1r170 A T 7: 23,606,334 I54F possibly damaging Het
Vmn2r121 T G X: 124,127,894 I810L probably damaging Het
Wbp2nl A T 15: 82,305,744 T46S possibly damaging Het
Zfp955b T A 17: 33,300,966 M57K probably benign Het
Other mutations in Mapkapk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02043:Mapkapk3 APN 9 107262422 critical splice donor site probably null
IGL02486:Mapkapk3 APN 9 107289268 missense probably damaging 1.00
R1523:Mapkapk3 UTSW 9 107263623 critical splice donor site probably null
R4106:Mapkapk3 UTSW 9 107257066 missense probably damaging 0.99
R4290:Mapkapk3 UTSW 9 107258932 intron probably benign
R4291:Mapkapk3 UTSW 9 107258932 intron probably benign
R4293:Mapkapk3 UTSW 9 107258932 intron probably benign
R4294:Mapkapk3 UTSW 9 107258932 intron probably benign
R4299:Mapkapk3 UTSW 9 107257449 missense probably damaging 1.00
R5433:Mapkapk3 UTSW 9 107256292 missense probably damaging 0.96
R5936:Mapkapk3 UTSW 9 107289170 missense probably damaging 0.96
R6029:Mapkapk3 UTSW 9 107289226 missense possibly damaging 0.86
R6228:Mapkapk3 UTSW 9 107260063 missense probably damaging 1.00
R6520:Mapkapk3 UTSW 9 107257449 missense probably damaging 1.00
R7011:Mapkapk3 UTSW 9 107289396 unclassified probably benign
R7352:Mapkapk3 UTSW 9 107257070 missense possibly damaging 0.83
Posted On2015-12-18