Incidental Mutation 'R9243:Mapk7'
ID 701103
Institutional Source Beutler Lab
Gene Symbol Mapk7
Ensembl Gene ENSMUSG00000001034
Gene Name mitogen-activated protein kinase 7
Synonyms BMK1, big MAP kinase 1, ERK5, b2b2346Clo, Erk5-T
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9243 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 61379638-61385101 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61384535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 57 (I57T)
Ref Sequence ENSEMBL: ENSMUSP00000078087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064783] [ENSMUST00000079080] [ENSMUST00000101085] [ENSMUST00000108714] [ENSMUST00000153441]
AlphaFold Q9WVS8
Predicted Effect probably benign
Transcript: ENSMUST00000064783
SMART Domains Protein: ENSMUSP00000070848
Gene: ENSMUSG00000042436

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FBG 38 257 3.39e-130 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000079080
AA Change: I57T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078087
Gene: ENSMUSG00000001034
AA Change: I57T

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
S_TKc 55 347 5.66e-96 SMART
low complexity region 433 447 N/A INTRINSIC
low complexity region 476 492 N/A INTRINSIC
coiled coil region 508 544 N/A INTRINSIC
low complexity region 578 603 N/A INTRINSIC
low complexity region 620 644 N/A INTRINSIC
low complexity region 675 692 N/A INTRINSIC
low complexity region 758 772 N/A INTRINSIC
low complexity region 791 803 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101085
SMART Domains Protein: ENSMUSP00000098646
Gene: ENSMUSG00000001034

DomainStartEndE-ValueType
S_TKc 4 277 3.48e-73 SMART
low complexity region 363 377 N/A INTRINSIC
coiled coil region 405 441 N/A INTRINSIC
low complexity region 475 500 N/A INTRINSIC
low complexity region 517 541 N/A INTRINSIC
low complexity region 572 589 N/A INTRINSIC
low complexity region 655 669 N/A INTRINSIC
low complexity region 688 700 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108714
SMART Domains Protein: ENSMUSP00000104354
Gene: ENSMUSG00000001034

DomainStartEndE-ValueType
S_TKc 1 278 1.76e-74 SMART
low complexity region 364 378 N/A INTRINSIC
low complexity region 407 423 N/A INTRINSIC
coiled coil region 439 475 N/A INTRINSIC
low complexity region 509 534 N/A INTRINSIC
low complexity region 551 575 N/A INTRINSIC
low complexity region 606 623 N/A INTRINSIC
low complexity region 689 703 N/A INTRINSIC
low complexity region 722 734 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153441
SMART Domains Protein: ENSMUSP00000116084
Gene: ENSMUSG00000001034

DomainStartEndE-ValueType
PDB:4IC8|B 1 49 2e-26 PDB
low complexity region 51 65 N/A INTRINSIC
low complexity region 94 110 N/A INTRINSIC
coiled coil region 126 162 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (51/53)
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 MAP kinase family. MAP kinases 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. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic growth retardation and midgestational lethality due to multiple developmental anomalies and vascular remodelling, cardiac development, and placental defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 53,188,035 (GRCm39) S1816R probably benign Het
Appl1 A T 14: 26,649,710 (GRCm39) F605L possibly damaging Het
Cacna1g T A 11: 94,347,893 (GRCm39) I732F possibly damaging Het
Capg T A 6: 72,538,070 (GRCm39) S319T probably benign Het
Cdh17 T A 4: 11,771,333 (GRCm39) F38L probably benign Het
Cep295 T A 9: 15,243,605 (GRCm39) N1617I probably benign Het
Cep57 C T 9: 13,738,204 (GRCm39) probably benign Het
Cfap46 A T 7: 139,195,265 (GRCm39) probably benign Het
Csnk1g2 C A 10: 80,475,648 (GRCm39) A405E probably damaging Het
Dock7 A G 4: 98,857,871 (GRCm39) V1481A unknown Het
Exoc2 T C 13: 31,109,778 (GRCm39) K197E probably benign Het
Fancg C T 4: 43,006,565 (GRCm39) V330I possibly damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Gad2 A G 2: 22,525,053 (GRCm39) E279G possibly damaging Het
Gria1 A G 11: 57,128,888 (GRCm39) Y454C probably benign Het
Grik3 C T 4: 125,601,690 (GRCm39) R856C probably benign Het
Hdac4 C A 1: 91,900,511 (GRCm39) R622I probably damaging Het
Hdac4 T C 1: 91,900,512 (GRCm39) R622G probably benign Het
Htt T C 5: 35,056,276 (GRCm39) probably benign Het
Idh1 A G 1: 65,207,656 (GRCm39) probably null Het
Igf1r A G 7: 67,861,775 (GRCm39) S1112G probably benign Het
Impg2 A T 16: 56,051,823 (GRCm39) S242C probably damaging Het
Itgb1 T A 8: 129,433,587 (GRCm39) S34T probably benign Het
Kcnh8 A G 17: 53,205,542 (GRCm39) I546V probably damaging Het
Klrd1 T G 6: 129,568,795 (GRCm39) M1R probably null Het
Krtap16-1 A T 11: 99,876,644 (GRCm39) C253* probably null Het
Msrb2 A G 2: 19,388,073 (GRCm39) N74D probably benign Het
Myd88 A T 9: 119,168,773 (GRCm39) S85T probably benign Het
Myo1c G T 11: 75,541,437 (GRCm39) probably benign Het
Nnt T A 13: 119,494,060 (GRCm39) N674Y unknown Het
Nrcam A G 12: 44,620,607 (GRCm39) Y878C probably damaging Het
Obscn T C 11: 59,023,392 (GRCm39) T662A probably benign Het
Or14j4 T C 17: 37,921,408 (GRCm39) Q78R probably benign Het
Or4l15 A G 14: 50,197,881 (GRCm39) V216A probably benign Het
Or51ah3 A G 7: 103,209,782 (GRCm39) S33G probably benign Het
Or8k40 A G 2: 86,584,282 (GRCm39) S267P possibly damaging Het
Pappa2 C A 1: 158,763,763 (GRCm39) V583L probably damaging Het
Parp1 T G 1: 180,415,680 (GRCm39) S500A probably benign Het
Pcdhb17 A G 18: 37,619,989 (GRCm39) D593G probably damaging Het
Pex19 GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC 1: 171,956,150 (GRCm39) probably null Het
Prrc1 C G 18: 57,496,271 (GRCm39) S74W possibly damaging Het
Rag2 G A 2: 101,460,419 (GRCm39) G243D probably damaging Het
Sgpp1 T C 12: 75,781,961 (GRCm39) E126G probably damaging Het
Skic2 G A 17: 35,064,198 (GRCm39) T496M probably benign Het
Slc17a1 C A 13: 24,064,432 (GRCm39) F329L probably benign Het
Slc52a3 G A 2: 151,846,512 (GRCm39) V158I probably benign Het
Slf1 T A 13: 77,273,575 (GRCm39) T75S possibly damaging Het
Smok2b G A 17: 13,453,637 (GRCm39) probably null Het
Tmem125 A T 4: 118,399,089 (GRCm39) V114E probably damaging Het
Ube2f A T 1: 91,181,980 (GRCm39) probably benign Het
Zdhhc19 T A 16: 32,315,992 (GRCm39) F30I probably damaging Het
Zfp236 T C 18: 82,662,050 (GRCm39) probably benign Het
Zfp462 C A 4: 55,009,595 (GRCm39) Y520* probably null Het
Zzz3 A G 3: 152,133,920 (GRCm39) D326G probably damaging Het
Other mutations in Mapk7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01510:Mapk7 APN 11 61,381,986 (GRCm39) missense probably damaging 1.00
IGL02289:Mapk7 APN 11 61,380,785 (GRCm39) splice site probably null
IGL03108:Mapk7 APN 11 61,382,498 (GRCm39) missense probably damaging 1.00
IGL03342:Mapk7 APN 11 61,382,216 (GRCm39) missense probably damaging 1.00
FR4340:Mapk7 UTSW 11 61,381,032 (GRCm39) intron probably benign
FR4589:Mapk7 UTSW 11 61,381,048 (GRCm39) intron probably benign
R1497:Mapk7 UTSW 11 61,384,689 (GRCm39) missense possibly damaging 0.53
R1866:Mapk7 UTSW 11 61,380,239 (GRCm39) missense probably benign 0.27
R2870:Mapk7 UTSW 11 61,381,038 (GRCm39) intron probably benign
R2871:Mapk7 UTSW 11 61,381,038 (GRCm39) intron probably benign
R2872:Mapk7 UTSW 11 61,381,038 (GRCm39) intron probably benign
R3831:Mapk7 UTSW 11 61,380,680 (GRCm39) missense possibly damaging 0.83
R3832:Mapk7 UTSW 11 61,380,680 (GRCm39) missense possibly damaging 0.83
R3833:Mapk7 UTSW 11 61,380,680 (GRCm39) missense possibly damaging 0.83
R4378:Mapk7 UTSW 11 61,384,493 (GRCm39) missense probably damaging 1.00
R4428:Mapk7 UTSW 11 61,380,055 (GRCm39) missense possibly damaging 0.90
R4642:Mapk7 UTSW 11 61,381,727 (GRCm39) missense probably damaging 0.99
R4692:Mapk7 UTSW 11 61,380,068 (GRCm39) missense possibly damaging 0.73
R4718:Mapk7 UTSW 11 61,380,080 (GRCm39) missense possibly damaging 0.73
R4755:Mapk7 UTSW 11 61,381,669 (GRCm39) missense probably damaging 1.00
R4916:Mapk7 UTSW 11 61,384,475 (GRCm39) missense probably damaging 0.97
R4933:Mapk7 UTSW 11 61,384,734 (GRCm39) unclassified probably benign
R5825:Mapk7 UTSW 11 61,381,207 (GRCm39) missense possibly damaging 0.66
R5875:Mapk7 UTSW 11 61,384,524 (GRCm39) missense probably benign 0.13
R5910:Mapk7 UTSW 11 61,384,447 (GRCm39) start codon destroyed probably benign 0.01
R7201:Mapk7 UTSW 11 61,379,998 (GRCm39) missense probably benign 0.33
R7465:Mapk7 UTSW 11 61,381,279 (GRCm39) missense probably damaging 1.00
R7797:Mapk7 UTSW 11 61,380,241 (GRCm39) missense possibly damaging 0.72
R8867:Mapk7 UTSW 11 61,384,632 (GRCm39) missense probably benign 0.41
R8953:Mapk7 UTSW 11 61,383,792 (GRCm39) missense possibly damaging 0.81
R9394:Mapk7 UTSW 11 61,381,858 (GRCm39) missense probably damaging 1.00
R9671:Mapk7 UTSW 11 61,382,498 (GRCm39) missense probably damaging 1.00
RF031:Mapk7 UTSW 11 61,381,060 (GRCm39) intron probably benign
Z1177:Mapk7 UTSW 11 61,382,188 (GRCm39) missense probably damaging 1.00
Z1186:Mapk7 UTSW 11 61,381,053 (GRCm39) intron probably benign
Z1186:Mapk7 UTSW 11 61,381,042 (GRCm39) intron probably benign
Z1186:Mapk7 UTSW 11 61,381,038 (GRCm39) intron probably benign
Z1187:Mapk7 UTSW 11 61,381,053 (GRCm39) intron probably benign
Z1187:Mapk7 UTSW 11 61,381,038 (GRCm39) intron probably benign
Z1188:Mapk7 UTSW 11 61,381,070 (GRCm39) intron probably benign
Z1188:Mapk7 UTSW 11 61,381,053 (GRCm39) intron probably benign
Z1188:Mapk7 UTSW 11 61,381,038 (GRCm39) intron probably benign
Z1189:Mapk7 UTSW 11 61,381,053 (GRCm39) intron probably benign
Z1190:Mapk7 UTSW 11 61,381,053 (GRCm39) intron probably benign
Z1191:Mapk7 UTSW 11 61,381,053 (GRCm39) intron probably benign
Z1191:Mapk7 UTSW 11 61,381,038 (GRCm39) intron probably benign
Z1192:Mapk7 UTSW 11 61,381,053 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TTTCCTAAGGAGAAAGTAGGCTG -3'
(R):5'- AGCGCTTCGTACAGACCATG -3'

Sequencing Primer
(F):5'- ACCTAGTCCGTAAGCGTGAGTG -3'
(R):5'- TTCGTACAGACCATGGCCGAAC -3'
Posted On 2022-03-25