Incidental Mutation 'R5694:Mapk1'
ID 443839
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 043325-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5694 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 16801246-16865317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 16836333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 160 (D160E)
Ref Sequence ENSEMBL: ENSMUSP00000156154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023462] [ENSMUST00000069107] [ENSMUST00000115731] [ENSMUST00000232611]
AlphaFold P63085
Predicted Effect probably benign
Transcript: ENSMUST00000023462
AA Change: D160E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000023462
Gene: ENSMUSG00000063358
AA Change: D160E

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: D160E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000065983
Gene: ENSMUSG00000063358
AA Change: D160E

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: D160E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000111396
Gene: ENSMUSG00000063358
AA Change: D160E

DomainStartEndE-ValueType
S_TKc 23 311 1.06e-95 SMART
low complexity region 330 344 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231420
Predicted Effect probably benign
Transcript: ENSMUST00000232611
AA Change: D160E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A T 6: 142,546,673 (GRCm39) I1353N probably damaging Het
Actr1a C A 19: 46,384,157 (GRCm39) probably benign Het
Adamts14 A T 10: 61,065,431 (GRCm39) M356K probably benign Het
Adamtsl2 A G 2: 26,971,736 (GRCm39) H7R probably benign Het
Angptl2 T C 2: 33,118,628 (GRCm39) V134A probably damaging Het
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Astn2 T C 4: 65,868,375 (GRCm39) D488G probably damaging Het
Cat A T 2: 103,303,339 (GRCm39) V146E probably damaging Het
Dmxl1 T C 18: 50,027,324 (GRCm39) V2144A probably damaging Het
Efcab5 T G 11: 77,079,701 (GRCm39) D15A probably benign Het
Epha10 C T 4: 124,796,446 (GRCm39) A385V unknown Het
Erg C A 16: 95,161,890 (GRCm39) E388D probably benign Het
Fbxo10 T A 4: 45,035,970 (GRCm39) I931F probably damaging Het
Frem1 A G 4: 82,912,353 (GRCm39) L673P probably damaging Het
Gm4922 A C 10: 18,660,035 (GRCm39) I229S possibly damaging Het
Gnptab T A 10: 88,250,348 (GRCm39) D153E probably benign Het
Htr7 T C 19: 36,034,521 (GRCm39) M45V probably benign Het
Hycc1 C A 5: 24,196,794 (GRCm39) L31F probably damaging Het
Igkv4-51 C T 6: 69,658,911 (GRCm39) V5M probably damaging Het
Ints7 G A 1: 191,318,730 (GRCm39) E156K probably damaging Het
Map3k21 A G 8: 126,671,507 (GRCm39) T932A probably benign Het
Mast4 A T 13: 102,910,701 (GRCm39) Y479* probably null Het
Meig1 T A 2: 3,412,999 (GRCm39) K7N probably damaging Het
Mthfd1l T A 10: 3,985,239 (GRCm39) D548E possibly damaging Het
Myo16 A G 8: 10,619,606 (GRCm39) R1386G probably benign Het
Nphs2 T C 1: 156,153,607 (GRCm39) S353P probably benign Het
Or12j4 T C 7: 140,046,644 (GRCm39) F177L probably benign Het
Or8b1 T A 9: 38,399,532 (GRCm39) I69K probably damaging Het
Pcdha9 G T 18: 37,131,425 (GRCm39) V165L probably benign Het
Pde3a T A 6: 141,196,228 (GRCm39) S305T possibly damaging Het
Phf14 C A 6: 11,990,124 (GRCm39) L718I possibly damaging Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Rab44 T A 17: 29,364,940 (GRCm39) M645K unknown Het
Rab44 T C 17: 29,359,474 (GRCm39) L554P probably damaging Het
Rnf222 A G 11: 68,783,723 (GRCm39) T97A probably benign Het
Rnpepl1 T C 1: 92,846,663 (GRCm39) S522P probably benign Het
Serinc5 A G 13: 92,825,302 (GRCm39) I244V probably benign Het
Serpinb10 A T 1: 107,463,187 (GRCm39) probably null Het
Siglech T A 7: 55,418,404 (GRCm39) F124Y probably damaging Het
Smarcc2 A T 10: 128,319,996 (GRCm39) I790L probably benign Het
Sos2 C A 12: 69,637,689 (GRCm39) R1007S probably damaging Het
Stk4 C T 2: 163,942,484 (GRCm39) T372M possibly damaging Het
Tbc1d10c A T 19: 4,234,963 (GRCm39) L366H probably damaging Het
Tor4a T C 2: 25,084,932 (GRCm39) T324A probably benign Het
Trim12a C A 7: 103,956,450 (GRCm39) C30F probably damaging Het
Ttll3 G A 6: 113,376,669 (GRCm39) V350M probably damaging Het
Uggt1 A T 1: 36,218,737 (GRCm39) D63E probably damaging Het
Unc5b G A 10: 60,609,526 (GRCm39) T590I probably benign Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Wls A C 3: 159,545,624 (GRCm39) I16L probably benign Het
Zfp101 T C 17: 33,599,919 (GRCm39) I612M probably benign Het
Zfp677 C A 17: 21,618,021 (GRCm39) D359E probably damaging 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
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'- CTTTGCTAAGTGTGAGCAGCTG -3'
(R):5'- TGTCTCTGAAGGAAGGATGGGC -3'

Sequencing Primer
(F):5'- CAGCTGGCAGTGTTTGACCTTAAC -3'
(R):5'- GAGACTCATACTGTGTATCTGT -3'
Posted On 2016-11-09