Incidental Mutation 'R0659:Mapk6'
ID 61793
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 038844-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.550) question?
Stock # R0659 (G1)
Quality Score 121
Status Validated
Chromosome 9
Chromosomal Location 75294064-75317303 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75305244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 58 (S58G)
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: S58G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040315
Gene: ENSMUSG00000042688
AA Change: S58G

DomainStartEndE-ValueType
S_TKc 20 316 8.02e-87 SMART
low complexity region 647 670 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000168937
AA Change: S58G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129024
Gene: ENSMUSG00000042688
AA Change: S58G

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 0.1646 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.6%
Validation Efficiency 99% (72/73)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A G 18: 59,140,565 (GRCm39) probably benign Het
Ahnak A G 19: 8,992,366 (GRCm39) H4550R possibly damaging Het
Anxa6 A G 11: 54,874,173 (GRCm39) V591A probably damaging Het
Apol7c A G 15: 77,410,473 (GRCm39) S158P probably damaging Het
Asxl1 T A 2: 153,242,644 (GRCm39) S1065T possibly damaging Het
Cacna2d4 A G 6: 119,322,067 (GRCm39) probably benign Het
Cd109 T C 9: 78,587,452 (GRCm39) probably benign Het
Cep78 C T 19: 15,933,554 (GRCm39) V675M probably damaging Het
Ces4a T C 8: 105,871,554 (GRCm39) probably benign Het
Chpf A G 1: 75,454,367 (GRCm39) V137A probably damaging Het
Comp T C 8: 70,831,751 (GRCm39) S457P possibly damaging Het
Cth A G 3: 157,625,752 (GRCm39) probably benign Het
Cyp2a12 T C 7: 26,733,563 (GRCm39) L314P probably damaging Het
Ets1 C T 9: 32,649,589 (GRCm39) R309C probably damaging Het
Foxp2 T C 6: 15,254,278 (GRCm39) probably benign Het
Gm9875 T G 2: 13,562,995 (GRCm39) F108V unknown Het
Golga5 G T 12: 102,442,467 (GRCm39) V269F possibly damaging Het
Greb1 T C 12: 16,730,213 (GRCm39) Y1738C probably damaging Het
Grin2a G T 16: 9,810,336 (GRCm39) P21Q probably damaging Het
Hdac5 A T 11: 102,086,850 (GRCm39) V70E probably damaging Het
Hdac9 T C 12: 34,487,221 (GRCm39) Q60R probably damaging Het
Hsd17b3 T C 13: 64,221,750 (GRCm39) T92A possibly damaging Het
Itpk1 C T 12: 102,572,337 (GRCm39) probably benign Het
Lin28a T C 4: 133,735,410 (GRCm39) probably benign Het
Mmp21 G A 7: 133,279,396 (GRCm39) probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mroh2a G A 1: 88,178,064 (GRCm39) D1053N probably damaging Het
Msh3 T C 13: 92,481,604 (GRCm39) N303D possibly damaging Het
Mto1 C T 9: 78,378,072 (GRCm39) T638M probably damaging Het
Mto1 T A 9: 78,364,790 (GRCm39) I343N probably damaging Het
Myo18b T C 5: 112,908,193 (GRCm39) K2027E possibly damaging Het
Myo7a T C 7: 97,703,545 (GRCm39) probably benign Het
Nlrp9a T C 7: 26,256,703 (GRCm39) I107T probably damaging Het
Or5k17 C A 16: 58,746,772 (GRCm39) R54L possibly damaging Het
Or8g37 T G 9: 39,731,112 (GRCm39) M59R possibly damaging Het
Osbpl5 A G 7: 143,258,767 (GRCm39) S268P probably damaging Het
Pih1d1 T A 7: 44,809,399 (GRCm39) S289T probably benign Het
Pik3c2b A G 1: 132,998,938 (GRCm39) D353G probably damaging Het
Ppef2 A G 5: 92,378,368 (GRCm39) L609P probably damaging Het
Prune2 A T 19: 17,100,199 (GRCm39) D1901V probably damaging Het
Rdh9 T C 10: 127,612,444 (GRCm39) Y31H possibly damaging Het
Slc5a9 T A 4: 111,741,068 (GRCm39) Y526F possibly damaging Het
Slitrk5 A G 14: 111,918,121 (GRCm39) K582E probably benign Het
Sult1c2 A T 17: 54,138,806 (GRCm39) M257K probably damaging Het
Tasor2 T C 13: 3,624,448 (GRCm39) D1834G probably damaging Het
Tmem132d A G 5: 128,061,351 (GRCm39) I417T possibly damaging Het
Tmem229b T C 12: 79,011,908 (GRCm39) T8A probably benign Het
Tmem237 T C 1: 59,153,253 (GRCm39) I89M possibly damaging Het
Tnfrsf17 A T 16: 11,137,683 (GRCm39) D140V probably damaging Het
Tnrc6b T A 15: 80,807,647 (GRCm39) probably benign Het
Trio A G 15: 27,831,485 (GRCm39) L194P probably damaging Het
Vmn2r74 T C 7: 85,605,122 (GRCm39) probably benign Het
Vps13c T A 9: 67,828,217 (GRCm39) M1457K probably benign Het
Zfhx2 A G 14: 55,311,258 (GRCm39) C479R possibly damaging Het
Zfp420 T A 7: 29,574,964 (GRCm39) C395S probably damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A possibly damaging Het
Zfp82 C T 7: 29,755,754 (GRCm39) E443K probably damaging Het
Zranb2 A G 3: 157,247,400 (GRCm39) S193G probably benign 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
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
R5117:Mapk6 UTSW 9 75,305,017 (GRCm39) missense possibly damaging 0.56
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'- AGCACATTCGCCAAGTCTGTCTCC -3'
(R):5'- TGAACATCAAGAAACCATCGTGCCG -3'

Sequencing Primer
(F):5'- CATATACTCCTGAACAATGTAGACG -3'
(R):5'- CACAAGTTCAACAGTTTGAAAGG -3'
Posted On 2013-07-30