Incidental Mutation 'IGL00944:Mapk1'
ID 29166
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapk1
Ensembl Gene ENSMUSG00000063358
Gene Name mitogen-activated protein kinase 1
Synonyms Erk2, 9030612K14Rik, Prkm1, p42mapk, MAPK2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00944
Quality Score
Status
Chromosome 16
Chromosomal Location 16801246-16865317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16853322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 289 (D289E)
Ref Sequence ENSEMBL: ENSMUSP00000156154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023462] [ENSMUST00000069107] [ENSMUST00000115731] [ENSMUST00000129477] [ENSMUST00000232611] [ENSMUST00000232067]
AlphaFold P63085
Predicted Effect probably benign
Transcript: ENSMUST00000023462
AA Change: D289E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023462
Gene: ENSMUSG00000063358
AA Change: D289E

DomainStartEndE-ValueType
S_TKc 23 311 1.06e-95 SMART
low complexity region 330 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000069107
AA Change: D289E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000065983
Gene: ENSMUSG00000063358
AA Change: D289E

DomainStartEndE-ValueType
S_TKc 23 311 1.06e-95 SMART
low complexity region 330 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115731
AA Change: D289E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000111396
Gene: ENSMUSG00000063358
AA Change: D289E

DomainStartEndE-ValueType
S_TKc 23 311 1.06e-95 SMART
low complexity region 330 344 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128958
Predicted Effect probably benign
Transcript: ENSMUST00000129477
AA Change: D47E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115125
Gene: ENSMUSG00000063358
AA Change: D47E

DomainStartEndE-ValueType
Pfam:Pkinase 2 69 1.3e-5 PFAM
low complexity region 106 120 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145409
Predicted Effect unknown
Transcript: ENSMUST00000231821
AA Change: D38E
Predicted Effect probably benign
Transcript: ENSMUST00000232611
AA Change: D289E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000232067
AA Change: D47E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232480
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 MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), 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. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. One study also suggests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous mutant embryos implant in the uterus, but die shortly thereafter failing to form extraembryonic tissues. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10b A G 11: 43,092,988 (GRCm39) N441S probably damaging Het
Bod1l A G 5: 41,974,166 (GRCm39) C2383R probably benign Het
Dapk3 G T 10: 81,019,910 (GRCm39) probably null Het
Dock6 T C 9: 21,757,930 (GRCm39) D58G possibly damaging Het
Etl4 G A 2: 20,534,865 (GRCm39) V107I possibly damaging Het
Fam163b A G 2: 27,003,597 (GRCm39) L19P probably damaging Het
Fbxl20 A C 11: 98,004,068 (GRCm39) F73L probably damaging Het
Foxj2 T C 6: 122,816,594 (GRCm39) L492P probably damaging Het
Hfm1 A T 5: 107,049,996 (GRCm39) V391E possibly damaging Het
Ift74 T C 4: 94,581,259 (GRCm39) Y586H probably damaging Het
Klhl12 A G 1: 134,411,491 (GRCm39) N280S probably benign Het
Lctl T A 9: 64,040,411 (GRCm39) Y292* probably null Het
Ltb C A 17: 35,413,642 (GRCm39) Q49K possibly damaging Het
Mideas A G 12: 84,207,322 (GRCm39) probably benign Het
Mroh2b C T 15: 4,980,609 (GRCm39) probably benign Het
Myot T C 18: 44,470,181 (GRCm39) S53P possibly damaging Het
Opn5 G A 17: 42,922,119 (GRCm39) L28F probably damaging Het
Or5b97 A T 19: 12,878,719 (GRCm39) Y142N probably benign Het
Or8k39 A G 2: 86,563,905 (GRCm39) I17T possibly damaging Het
Pals2 T C 6: 50,140,436 (GRCm39) V152A possibly damaging Het
Pld1 T A 3: 28,099,247 (GRCm39) probably null Het
Rc3h2 A G 2: 37,288,250 (GRCm39) probably benign Het
Robo2 T A 16: 73,730,585 (GRCm39) H1009L possibly damaging Het
Setd7 T A 3: 51,440,459 (GRCm39) D194V probably damaging Het
Sh3bp1 A T 15: 78,789,314 (GRCm39) D288V possibly damaging Het
Smpd4 T C 16: 17,460,621 (GRCm39) I809T probably benign Het
Spata6 C T 4: 111,663,125 (GRCm39) probably benign Het
Trnau1ap C A 4: 132,055,817 (GRCm39) V30L possibly damaging Het
Trpm4 T C 7: 44,967,773 (GRCm39) H386R probably benign Het
Ttc3 T G 16: 94,227,620 (GRCm39) probably null Het
Ufd1 T C 16: 18,643,781 (GRCm39) V180A possibly damaging Het
Vmn2r102 A G 17: 19,899,154 (GRCm39) I499V probably damaging Het
Zfp112 C A 7: 23,825,021 (GRCm39) Q330K probably benign Het
Zfp668 G A 7: 127,467,079 (GRCm39) R166W probably damaging Het
Other mutations in Mapk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Mapk1 APN 16 16,836,144 (GRCm39) splice site probably benign
IGL01764:Mapk1 APN 16 16,801,597 (GRCm39) missense possibly damaging 0.50
IGL02138:Mapk1 APN 16 16,841,316 (GRCm39) missense probably benign 0.18
IGL02701:Mapk1 APN 16 16,833,770 (GRCm39) missense probably benign 0.00
R0517:Mapk1 UTSW 16 16,833,910 (GRCm39) missense probably benign 0.02
R1609:Mapk1 UTSW 16 16,856,170 (GRCm39) splice site probably benign
R1862:Mapk1 UTSW 16 16,844,293 (GRCm39) missense probably benign 0.36
R2885:Mapk1 UTSW 16 16,844,309 (GRCm39) missense probably benign
R4205:Mapk1 UTSW 16 16,856,321 (GRCm39) intron probably benign
R4959:Mapk1 UTSW 16 16,836,170 (GRCm39) missense probably damaging 1.00
R5694:Mapk1 UTSW 16 16,836,333 (GRCm39) missense probably benign 0.02
R6630:Mapk1 UTSW 16 16,844,249 (GRCm39) missense probably damaging 1.00
R6809:Mapk1 UTSW 16 16,853,326 (GRCm39) missense probably benign 0.09
R8230:Mapk1 UTSW 16 16,843,930 (GRCm39) missense noncoding transcript
R9132:Mapk1 UTSW 16 16,856,300 (GRCm39) critical splice donor site probably null
R9214:Mapk1 UTSW 16 16,853,549 (GRCm39) missense probably benign 0.02
R9373:Mapk1 UTSW 16 16,836,154 (GRCm39) missense probably benign 0.17
Posted On 2013-04-17