Incidental Mutation 'R4205:Mapk1'
ID 318884
Institutional Source Beutler Lab
Gene Symbol Mapk1
Ensembl Gene ENSMUSG00000063358
Gene Name mitogen-activated protein kinase 1
Synonyms Erk2, 9030612K14Rik, Prkm1, p42mapk, MAPK2
MMRRC Submission 041034-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4205 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 16801246-16865317 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 16856321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069107] [ENSMUST00000115731] [ENSMUST00000232067] [ENSMUST00000232611]
AlphaFold P63085
Predicted Effect probably benign
Transcript: ENSMUST00000069107
SMART Domains Protein: ENSMUSP00000065983
Gene: ENSMUSG00000063358

DomainStartEndE-ValueType
S_TKc 23 311 1.06e-95 SMART
low complexity region 330 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115731
SMART Domains Protein: ENSMUSP00000111396
Gene: ENSMUSG00000063358

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 noncoding transcript
Transcript: ENSMUST00000145409
Predicted Effect probably benign
Transcript: ENSMUST00000231821
Predicted Effect probably benign
Transcript: ENSMUST00000232067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232480
Predicted Effect probably benign
Transcript: ENSMUST00000232611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232630
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 100% (40/40)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 G T 7: 143,422,964 (GRCm39) V17L probably damaging Het
Akap13 T C 7: 75,260,667 (GRCm39) I294T probably benign Het
Alpk2 G A 18: 65,438,282 (GRCm39) T1037M possibly damaging Het
Ano7 A G 1: 93,308,200 (GRCm39) D77G probably benign Het
Arhgef5 A G 6: 43,250,766 (GRCm39) T506A possibly damaging Het
Bclaf3 T A X: 158,336,829 (GRCm39) S419T probably damaging Het
Cd101 A C 3: 100,926,001 (GRCm39) D239E probably damaging Het
Cdhr1 G T 14: 36,802,461 (GRCm39) F667L probably benign Het
Csrp1 T G 1: 135,673,065 (GRCm39) C61G probably damaging Het
Dmrtc2 C T 7: 24,575,231 (GRCm39) Q275* probably null Het
Dsg1b A T 18: 20,541,878 (GRCm39) D795V probably damaging Het
Elavl1 A G 8: 4,339,851 (GRCm39) W244R probably damaging Het
Emilin1 T C 5: 31,077,243 (GRCm39) probably benign Het
Fam20c T G 5: 138,741,431 (GRCm39) L14R probably damaging Het
Glt1d1 G T 5: 127,766,935 (GRCm39) R217L probably benign Het
Klk14 G A 7: 43,344,358 (GRCm39) R223H probably benign Het
Lrrc26 G T 2: 25,180,170 (GRCm39) C57F probably damaging Het
Maml1 A T 11: 50,148,740 (GRCm39) L1000Q probably damaging Het
Map2 A G 1: 66,464,449 (GRCm39) Y125C probably damaging Het
Mocos G A 18: 24,799,248 (GRCm39) V161M possibly damaging Het
Or4c108 A G 2: 88,803,482 (GRCm39) V251A probably benign Het
Pcdhgb5 A G 18: 37,865,716 (GRCm39) N504D possibly damaging Het
Pcx G A 19: 4,669,194 (GRCm39) V731M possibly damaging Het
Ppfibp1 C A 6: 146,931,079 (GRCm39) S878R probably damaging Het
Ptprh C A 7: 4,600,991 (GRCm39) G129W probably damaging Het
Rasal1 T C 5: 120,797,628 (GRCm39) V120A probably benign Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Rtn4rl1 A T 11: 75,156,809 (GRCm39) I414F probably damaging Het
Rtn4rl1 C A 11: 75,156,818 (GRCm39) P417T probably damaging Het
Shank3 T C 15: 89,387,521 (GRCm39) L230P probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Taar9 C T 10: 23,984,477 (GRCm39) R319H possibly damaging Het
Tbck T A 3: 132,543,789 (GRCm39) I880N probably benign Het
Tsku C T 7: 98,002,205 (GRCm39) R42H probably damaging Het
Tyr A G 7: 87,078,276 (GRCm39) L528P possibly damaging Het
Zc3h13 A G 14: 75,565,041 (GRCm39) D718G unknown Het
Other mutations in Mapk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Mapk1 APN 16 16,853,322 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TCCCTTGACCATGACAACTTGC -3'
(R):5'- ACGACCGTCACAGTGTCTAAG -3'

Sequencing Primer
(F):5'- TTGACCATGACAACTTGCGACTG -3'
(R):5'- TCACAGTGTCTAAGGGCTGC -3'
Posted On 2015-06-10