Incidental Mutation 'R1673:Mapk6'
ID 187821
Institutional Source Beutler Lab
Gene Symbol Mapk6
Ensembl Gene ENSMUSG00000042688
Gene Name mitogen-activated protein kinase 6
Synonyms Mapk4, D130053K17Rik, ERK3, Prkm6, Mapk63, Prkm4, Erk3, 2610021I23Rik
MMRRC Submission 039709-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R1673 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 75369062-75410005 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75395569 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 214 (D214G)
Ref Sequence ENSEMBL: ENSMUSP00000129024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049355] [ENSMUST00000168937]
AlphaFold Q61532
Predicted Effect probably damaging
Transcript: ENSMUST00000049355
AA Change: D214G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040315
Gene: ENSMUSG00000042688
AA Change: D214G

S_TKc 20 316 8.02e-87 SMART
low complexity region 647 670 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000168937
AA Change: D214G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129024
Gene: ENSMUSG00000042688
AA Change: D214G

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,212,339 (GRCm38) S809G probably benign Het
Ap4b1 T A 3: 103,817,845 (GRCm38) probably null Het
Aqp12 A G 1: 93,006,884 (GRCm38) Q161R possibly damaging Het
Atp8a2 A G 14: 59,791,240 (GRCm38) I926T probably benign Het
Cacna2d1 A T 5: 16,299,990 (GRCm38) N314I probably damaging Het
Cd209d A G 8: 3,877,113 (GRCm38) S81P probably damaging Het
Cdcp1 T A 9: 123,178,021 (GRCm38) K554* probably null Het
Celsr1 A G 15: 85,932,457 (GRCm38) Y1762H probably benign Het
Cklf A G 8: 104,257,351 (GRCm38) T49A possibly damaging Het
Col12a1 T G 9: 79,693,538 (GRCm38) I755L probably benign Het
Cts3 G A 13: 61,567,554 (GRCm38) Q140* probably null Het
Ddx1 A T 12: 13,244,966 (GRCm38) probably null Het
Dnah3 C A 7: 119,971,179 (GRCm38) E2262* probably null Het
Dnah5 A G 15: 28,290,148 (GRCm38) N1228S probably benign Het
Dsg1a G A 18: 20,331,504 (GRCm38) R352Q probably damaging Het
Efcab5 A G 11: 77,151,853 (GRCm38) F25L probably damaging Het
Efhd1 T A 1: 87,264,682 (GRCm38) V78D probably damaging Het
Eif5a2 T C 3: 28,793,818 (GRCm38) probably null Het
Elp2 T A 18: 24,611,926 (GRCm38) V101D possibly damaging Het
Enpp2 A T 15: 54,910,196 (GRCm38) probably null Het
F5 A G 1: 164,179,520 (GRCm38) T298A probably damaging Het
Fam208b A G 13: 3,584,498 (GRCm38) probably null Het
Fbxo21 G T 5: 118,008,064 (GRCm38) R584L probably benign Het
Fbxw22 G T 9: 109,382,128 (GRCm38) F368L possibly damaging Het
Gcn1l1 T C 5: 115,582,297 (GRCm38) I409T probably benign Het
Gm10260 A T 13: 97,760,360 (GRCm38) Y77N possibly damaging Het
Gm12887 T C 4: 121,616,458 (GRCm38) Y65C probably damaging Het
Gria4 G A 9: 4,537,637 (GRCm38) Q224* probably null Het
Hdac5 C T 11: 102,198,805 (GRCm38) V860M probably damaging Het
Ino80 G A 2: 119,381,936 (GRCm38) R1302C probably damaging Het
Kcns2 A T 15: 34,838,820 (GRCm38) I110F probably damaging Het
Lrig3 A G 10: 126,010,167 (GRCm38) T822A probably damaging Het
Mcm2 A T 6: 88,892,078 (GRCm38) L264Q probably benign Het
Mpnd A T 17: 56,010,455 (GRCm38) Y64F probably damaging Het
Muc1 T A 3: 89,231,772 (GRCm38) M520K possibly damaging Het
Muc4 T A 16: 32,756,902 (GRCm38) S189T probably benign Het
Myh13 T C 11: 67,352,119 (GRCm38) S953P possibly damaging Het
Ncf2 A T 1: 152,830,479 (GRCm38) M281L probably benign Het
Nipal2 A G 15: 34,648,695 (GRCm38) I116T probably damaging Het
Nptn T C 9: 58,623,732 (GRCm38) L46P probably benign Het
Olfr11 A T 13: 21,639,044 (GRCm38) S160T probably damaging Het
Olfr1283 A G 2: 111,369,207 (GRCm38) T192A probably benign Het
Olfr290 T A 7: 84,916,117 (GRCm38) F113I probably damaging Het
Olfr610 C A 7: 103,506,689 (GRCm38) V86F probably damaging Het
Pgr A T 9: 8,902,068 (GRCm38) Y534F possibly damaging Het
Pip4k2a A T 2: 18,872,282 (GRCm38) probably null Het
Pkd1l2 C G 8: 117,040,775 (GRCm38) V1259L probably benign Het
Ppp1r12a A G 10: 108,249,565 (GRCm38) E457G probably damaging Het
Rasa4 T A 5: 136,104,637 (GRCm38) V650D probably benign Het
Rem2 C T 14: 54,476,309 (GRCm38) probably benign Het
Sdc1 G A 12: 8,790,409 (GRCm38) R62Q possibly damaging Het
Sdk1 A G 5: 141,948,506 (GRCm38) E366G possibly damaging Het
Setd2 T A 9: 110,604,180 (GRCm38) H2406Q probably damaging Het
Slc30a5 A G 13: 100,813,383 (GRCm38) V397A probably benign Het
Slc36a2 A T 11: 55,184,913 (GRCm38) L16H possibly damaging Het
Slc44a1 T C 4: 53,542,468 (GRCm38) V334A probably benign Het
Sox8 A T 17: 25,567,482 (GRCm38) Y416N possibly damaging Het
Speg T C 1: 75,411,163 (GRCm38) V1416A possibly damaging Het
Stk24 T A 14: 121,337,571 (GRCm38) I42F probably damaging Het
Tcerg1 T A 18: 42,552,581 (GRCm38) L661Q possibly damaging Het
Tmem110 T C 14: 30,864,434 (GRCm38) L72S possibly damaging Het
Tpp1 G A 7: 105,747,673 (GRCm38) R417W probably damaging Het
Trim12a T A 7: 104,306,057 (GRCm38) D153V possibly damaging Het
Trpm2 T C 10: 77,942,944 (GRCm38) N396S probably benign Het
Ttn G A 2: 76,810,287 (GRCm38) R11960C probably damaging Het
Ttn T C 2: 76,807,083 (GRCm38) K5695R probably damaging Het
Tulp3 A C 6: 128,333,943 (GRCm38) probably null Het
Uaca T A 9: 60,872,156 (GRCm38) L1273H probably damaging Het
Usp33 A G 3: 152,368,282 (GRCm38) E255G probably damaging Het
Vmn2r54 T G 7: 12,616,211 (GRCm38) probably null Het
Vwa8 C T 14: 78,908,230 (GRCm38) R116C probably damaging Het
Wnt5b A T 6: 119,446,354 (GRCm38) F116L probably benign Het
Zbtb12 CTTCAT CTTCATTCAT 17: 34,896,308 (GRCm38) probably null Het
Zbtb12 TCATC TCATCCATC 17: 34,896,310 (GRCm38) probably null Het
Zfp408 G A 2: 91,646,008 (GRCm38) T367I probably damaging Het
Zfp512b G A 2: 181,588,493 (GRCm38) A480V possibly damaging Het
Zfp560 T C 9: 20,347,653 (GRCm38) T638A probably benign Het
Zfp932 G T 5: 110,008,988 (GRCm38) G151V probably damaging Het
Zpbp T C 11: 11,352,696 (GRCm38) K320E probably damaging Het
Zranb2 C T 3: 157,537,640 (GRCm38) P91L probably damaging Het
Other mutations in Mapk6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Mapk6 APN 9 75,388,790 (GRCm38) missense possibly damaging 0.79
IGL01843:Mapk6 APN 9 75,390,290 (GRCm38) missense probably damaging 1.00
IGL03060:Mapk6 APN 9 75,397,802 (GRCm38) missense probably damaging 0.98
PIT4651001:Mapk6 UTSW 9 75,397,587 (GRCm38) missense possibly damaging 0.90
R0056:Mapk6 UTSW 9 75,388,816 (GRCm38) missense possibly damaging 0.66
R0056:Mapk6 UTSW 9 75,388,816 (GRCm38) missense possibly damaging 0.66
R0659:Mapk6 UTSW 9 75,397,962 (GRCm38) missense probably damaging 0.99
R3419:Mapk6 UTSW 9 75,397,757 (GRCm38) missense probably damaging 1.00
R4798:Mapk6 UTSW 9 75,388,432 (GRCm38) missense probably benign
R5117:Mapk6 UTSW 9 75,397,735 (GRCm38) missense possibly damaging 0.56
R5190:Mapk6 UTSW 9 75,388,344 (GRCm38) missense probably damaging 1.00
R5521:Mapk6 UTSW 9 75,393,316 (GRCm38) intron probably benign
R5579:Mapk6 UTSW 9 75,388,062 (GRCm38) missense possibly damaging 0.63
R6792:Mapk6 UTSW 9 75,395,548 (GRCm38) missense probably damaging 1.00
R7237:Mapk6 UTSW 9 75,397,613 (GRCm38) missense probably damaging 1.00
R9328:Mapk6 UTSW 9 75,397,970 (GRCm38) missense possibly damaging 0.70
R9775:Mapk6 UTSW 9 75,388,386 (GRCm38) missense possibly damaging 0.63
RF013:Mapk6 UTSW 9 75,388,260 (GRCm38) frame shift probably null
RF044:Mapk6 UTSW 9 75,388,260 (GRCm38) frame shift probably null
RF057:Mapk6 UTSW 9 75,388,258 (GRCm38) frame shift probably null
X0025:Mapk6 UTSW 9 75,395,508 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-09