Incidental Mutation 'R5117:Mapk6'
ID 392689
Institutional Source Beutler Lab
Gene Symbol Mapk6
Ensembl Gene ENSMUSG00000042688
Gene Name mitogen-activated protein kinase 6
Synonyms Prkm6, 2610021I23Rik, Prkm4, Erk3, D130053K17Rik, Mapk4, Mapk63, ERK3
MMRRC Submission 042705-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.550) question?
Stock # R5117 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 75294064-75317303 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75305017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 133 (M133I)
Ref Sequence ENSEMBL: ENSMUSP00000129024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049355] [ENSMUST00000168937]
AlphaFold Q61532
Predicted Effect possibly damaging
Transcript: ENSMUST00000049355
AA Change: M133I

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000040315
Gene: ENSMUSG00000042688
AA Change: M133I

DomainStartEndE-ValueType
S_TKc 20 316 8.02e-87 SMART
low complexity region 647 670 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000168937
AA Change: M133I

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129024
Gene: ENSMUSG00000042688
AA Change: M133I

DomainStartEndE-ValueType
S_TKc 20 316 8.02e-87 SMART
low complexity region 647 670 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174034
Meta Mutation Damage Score 0.0955 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Ser/Thr protein kinase family, and is most closely related to mitogen-activated protein kinases (MAP kinases). MAP kinases also known as extracellular signal-regulated kinases (ERKs), are activated through protein phosphorylation cascades and act as integration points for multiple biochemical signals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show limited fetal growth, reduced serum IGF2 levels, pulmonary hypoplasia and early neonatal death. About 40% of newborns die of acute respiratory failure exhibiting delayed lung maturation, reduced sacculation, atelectasis, and impaired type II pneumocyte differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G A 9: 124,055,715 (GRCm39) T403I probably benign Het
4921509C19Rik T C 2: 151,314,460 (GRCm39) E406G probably benign Het
Abca8b T C 11: 109,857,629 (GRCm39) E641G probably damaging Het
Agrn T C 4: 156,270,010 (GRCm39) N49S probably benign Het
Cacna1b A G 2: 24,622,340 (GRCm39) S215P probably damaging Het
Cacna1g T A 11: 94,323,329 (GRCm39) I1292F probably damaging Het
Card14 T A 11: 119,229,076 (GRCm39) I662N probably damaging Het
Cep135 A G 5: 76,779,276 (GRCm39) K762R probably benign Het
Ces1b A G 8: 93,799,837 (GRCm39) probably null Het
Erich6 T G 3: 58,530,626 (GRCm39) I448L probably benign Het
Fads3 T G 19: 10,019,322 (GRCm39) probably null Het
Fam234a A G 17: 26,432,512 (GRCm39) F546L probably benign Het
Fbxl9 T A 8: 106,039,492 (GRCm39) R595* probably null Het
Gm10717 T C 9: 3,025,625 (GRCm39) L70S probably benign Het
Gm11787 G T 4: 3,509,524 (GRCm39) noncoding transcript Het
Gm5519 A G 19: 33,802,471 (GRCm39) *171W probably null Het
Grid2 T C 6: 63,233,917 (GRCm39) I26T probably benign Het
Hmcn2 T G 2: 31,348,061 (GRCm39) C4902W possibly damaging Het
Hsp90aa1 T C 12: 110,661,698 (GRCm39) N106S possibly damaging Het
Il18 A T 9: 50,492,809 (GRCm39) N125I possibly damaging Het
Ints9 G T 14: 65,230,540 (GRCm39) E156* probably null Het
Kalrn T C 16: 33,853,971 (GRCm39) probably null Het
Klkb1 A T 8: 45,742,149 (GRCm39) D43E possibly damaging Het
Lipo3 A T 19: 33,536,952 (GRCm39) M256K probably benign Het
Med21 T A 6: 146,548,781 (GRCm39) probably benign Het
Myrf T A 19: 10,189,857 (GRCm39) E984V probably damaging Het
Naga A C 15: 82,221,657 (GRCm39) M28R probably damaging Het
Nphp4 T G 4: 152,608,689 (GRCm39) probably null Het
Nr1h4 T C 10: 89,314,284 (GRCm39) N295D probably damaging Het
Or10j27 T C 1: 172,958,484 (GRCm39) Q100R possibly damaging Het
Or13n4 A T 7: 106,422,869 (GRCm39) I288N probably damaging Het
Or55b3 T C 7: 102,126,709 (GRCm39) M123V probably damaging Het
Parp9 C A 16: 35,792,202 (GRCm39) probably null Het
Pax4 T C 6: 28,446,278 (GRCm39) I72V probably benign Het
Pcdh7 A G 5: 57,879,090 (GRCm39) I542V probably benign Het
Pcdhgb7 C T 18: 37,885,939 (GRCm39) R370W probably damaging Het
Pik3r1 G A 13: 101,828,744 (GRCm39) T18I probably benign Het
Ppara A G 15: 85,661,962 (GRCm39) I68V probably benign Het
Ptch2 T A 4: 116,963,146 (GRCm39) I211N probably damaging Het
Senp6 G A 9: 80,038,028 (GRCm39) V715M probably damaging Het
Serf2 C T 2: 121,281,184 (GRCm39) P41L possibly damaging Het
Serpina12 T C 12: 104,004,009 (GRCm39) I208V possibly damaging Het
Serpinf2 T C 11: 75,323,326 (GRCm39) D460G probably benign Het
Sh3d21 T C 4: 126,045,665 (GRCm39) E338G probably damaging Het
Slc7a11 T C 3: 50,333,599 (GRCm39) D384G probably damaging Het
Snx15 A G 19: 6,174,181 (GRCm39) probably null Het
Supt16 A G 14: 52,420,549 (GRCm39) F84L probably damaging Het
Tamalin A G 15: 101,128,418 (GRCm39) D152G probably damaging Het
Thoc2l A G 5: 104,668,121 (GRCm39) Y881C probably damaging Het
Tm9sf2 C A 14: 122,380,913 (GRCm39) Q169K probably benign Het
Trim56 A T 5: 137,142,832 (GRCm39) V228E probably benign Het
Triqk T A 4: 12,980,390 (GRCm39) probably null Het
Ttc21a T A 9: 119,795,631 (GRCm39) I1155N possibly damaging Het
Ube3b T G 5: 114,557,692 (GRCm39) Y1059D probably damaging Het
Vmn2r14 T C 5: 109,363,961 (GRCm39) T652A probably benign Het
Wdr4 A G 17: 31,718,798 (GRCm39) V304A probably benign Het
Wwp2 T C 8: 108,280,694 (GRCm39) S646P possibly damaging Het
Zfand5 T A 19: 21,257,009 (GRCm39) S130T probably benign Het
Zfp599 A T 9: 22,161,396 (GRCm39) Y256* probably null Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfyve16 T A 13: 92,642,197 (GRCm39) I1209L possibly damaging Het
Other mutations in Mapk6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Mapk6 APN 9 75,296,072 (GRCm39) missense possibly damaging 0.79
IGL01843:Mapk6 APN 9 75,297,572 (GRCm39) missense probably damaging 1.00
IGL03060:Mapk6 APN 9 75,305,084 (GRCm39) missense probably damaging 0.98
PIT4651001:Mapk6 UTSW 9 75,304,869 (GRCm39) missense possibly damaging 0.90
R0056:Mapk6 UTSW 9 75,296,098 (GRCm39) missense possibly damaging 0.66
R0056:Mapk6 UTSW 9 75,296,098 (GRCm39) missense possibly damaging 0.66
R0659:Mapk6 UTSW 9 75,305,244 (GRCm39) missense probably damaging 0.99
R1673:Mapk6 UTSW 9 75,302,851 (GRCm39) missense probably damaging 1.00
R3419:Mapk6 UTSW 9 75,305,039 (GRCm39) missense probably damaging 1.00
R4798:Mapk6 UTSW 9 75,295,714 (GRCm39) missense probably benign
R5190:Mapk6 UTSW 9 75,295,626 (GRCm39) missense probably damaging 1.00
R5521:Mapk6 UTSW 9 75,300,598 (GRCm39) intron probably benign
R5579:Mapk6 UTSW 9 75,295,344 (GRCm39) missense possibly damaging 0.63
R6792:Mapk6 UTSW 9 75,302,830 (GRCm39) missense probably damaging 1.00
R7237:Mapk6 UTSW 9 75,304,895 (GRCm39) missense probably damaging 1.00
R9328:Mapk6 UTSW 9 75,305,252 (GRCm39) missense possibly damaging 0.70
R9775:Mapk6 UTSW 9 75,295,668 (GRCm39) missense possibly damaging 0.63
RF013:Mapk6 UTSW 9 75,295,542 (GRCm39) frame shift probably null
RF044:Mapk6 UTSW 9 75,295,542 (GRCm39) frame shift probably null
RF057:Mapk6 UTSW 9 75,295,540 (GRCm39) frame shift probably null
X0025:Mapk6 UTSW 9 75,302,790 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGCTTTCTACGTACCTTATGGG -3'
(R):5'- CCCAGAGTGTCAAACATGCTC -3'

Sequencing Primer
(F):5'- CCTTATGGGAATAATGAGGATCCATG -3'
(R):5'- GAGTGTCAAACATGCTCTCCGTG -3'
Posted On 2016-06-15