Incidental Mutation 'R6630:Mapk1'
ID 525081
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 044752-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6630 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 16801246-16865317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16844249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 7 (D7G)
Ref Sequence ENSEMBL: ENSMUSP00000156214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023462] [ENSMUST00000069107] [ENSMUST00000115731] [ENSMUST00000129477] [ENSMUST00000232067] [ENSMUST00000232611]
AlphaFold P63085
Predicted Effect probably benign
Transcript: ENSMUST00000023462
AA Change: D249G

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000023462
Gene: ENSMUSG00000063358
AA Change: D249G

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: D249G

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000065983
Gene: ENSMUSG00000063358
AA Change: D249G

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: D249G

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000111396
Gene: ENSMUSG00000063358
AA Change: D249G

DomainStartEndE-ValueType
S_TKc 23 311 1.06e-95 SMART
low complexity region 330 344 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000129477
AA Change: D7G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115125
Gene: ENSMUSG00000063358
AA Change: D7G

DomainStartEndE-ValueType
Pfam:Pkinase 2 69 1.3e-5 PFAM
low complexity region 106 120 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231420
Predicted Effect probably benign
Transcript: ENSMUST00000231821
Predicted Effect probably damaging
Transcript: ENSMUST00000232067
AA Change: D7G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000232611
AA Change: D249G

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232281
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A G 9: 99,495,971 (GRCm39) T136A probably benign Het
Calb1 T A 4: 15,885,637 (GRCm39) D69E probably benign Het
Cecr2 A T 6: 120,739,139 (GRCm39) N1261Y probably damaging Het
Cemip2 A G 19: 21,829,593 (GRCm39) N1234S probably damaging Het
Cenpo G A 12: 4,267,236 (GRCm39) probably benign Het
Cep131 A G 11: 119,964,641 (GRCm39) W272R probably damaging Het
Cnr1 T A 4: 33,944,659 (GRCm39) I349N probably damaging Het
Dcst1 A T 3: 89,271,633 (GRCm39) I50K possibly damaging Het
Defa40 T A 8: 21,739,904 (GRCm39) S43T probably damaging Het
Dhh C T 15: 98,792,247 (GRCm39) V254M possibly damaging Het
Dhrs9 G T 2: 69,228,067 (GRCm39) W227L possibly damaging Het
Heca G A 10: 17,783,856 (GRCm39) R104* probably null Het
Irx4 G T 13: 73,416,545 (GRCm39) A314S probably benign Het
Map1s T C 8: 71,366,442 (GRCm39) V449A probably damaging Het
Mapre3 G T 5: 31,019,886 (GRCm39) V56F probably damaging Het
Mepce G A 5: 137,783,183 (GRCm39) T381I probably benign Het
Mga T A 2: 119,754,140 (GRCm39) V804E probably damaging Het
Myh6 T C 14: 55,179,458 (GRCm39) K157E probably benign Het
Or1e33 T A 11: 73,738,702 (GRCm39) H83L probably benign Het
Palb2 A T 7: 121,723,752 (GRCm39) S303T probably damaging Het
Phc2 C A 4: 128,617,423 (GRCm39) P483Q probably damaging Het
Polr2a A G 11: 69,626,339 (GRCm39) S1604P possibly damaging Het
Ppp4r3a A G 12: 101,016,035 (GRCm39) L39S probably damaging Het
Samsn1 G A 16: 75,676,092 (GRCm39) A101V probably benign Het
Spata31h1 A T 10: 82,122,906 (GRCm39) M3368K possibly damaging Het
Trbv3 T A 6: 41,025,506 (GRCm39) I32K possibly damaging Het
Trpm3 A T 19: 22,965,347 (GRCm39) N1614I probably benign Het
Ubr2 T C 17: 47,262,910 (GRCm39) R1234G possibly damaging Het
Usp24 T C 4: 106,245,032 (GRCm39) S1291P possibly damaging Het
Vmn1r81 A T 7: 11,994,584 (GRCm39) L8* probably null Het
Vmn2r24 T A 6: 123,763,981 (GRCm39) I286N probably benign 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
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
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'- AGTCACCTCAGGCTCACTCTAG -3'
(R):5'- AGCTGGAGCCTGATAATTTAGCC -3'

Sequencing Primer
(F):5'- AGGCTCACTCTAGCATGGTTG -3'
(R):5'- CTGGAGCCTGATAATTTAGCCAATAC -3'
Posted On 2018-06-22