Incidental Mutation 'R4933:Mapk7'
ID 380730
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 042533-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4933 (G1)
Quality Score 155
Status Validated
Chromosome 11
Chromosomal Location 61379638-61385101 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to T at 61384734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079080] [ENSMUST00000101085] [ENSMUST00000108714] [ENSMUST00000153441]
AlphaFold Q9WVS8
Predicted Effect probably benign
Transcript: ENSMUST00000079080
SMART Domains Protein: ENSMUSP00000078087
Gene: ENSMUSG00000001034

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 noncoding transcript
Transcript: ENSMUST00000123360
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139932
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency 97% (73/75)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,276,226 (GRCm39) E643G probably damaging Het
Abca2 T C 2: 25,334,839 (GRCm39) V1937A probably benign Het
Acot10 A T 15: 20,666,416 (GRCm39) N108K possibly damaging Het
Agtpbp1 A T 13: 59,648,386 (GRCm39) M478K probably benign Het
Akirin1 G A 4: 123,630,651 (GRCm39) S191F probably damaging Het
Aoc1l3 T C 6: 48,964,426 (GRCm39) S145P probably damaging Het
Aurkb T C 11: 68,938,970 (GRCm39) probably benign Het
Cabyr T C 18: 12,877,549 (GRCm39) probably benign Het
Ccp110 A G 7: 118,324,542 (GRCm39) E688G probably damaging Het
Champ1 T A 8: 13,929,137 (GRCm39) S432T probably benign Het
Crybg1 T A 10: 43,875,209 (GRCm39) N633I probably damaging Het
Dagla A T 19: 10,247,079 (GRCm39) probably null Het
Dkkl1 A T 7: 44,860,949 (GRCm39) L10Q probably null Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Fndc7 G T 3: 108,783,986 (GRCm39) Q208K probably benign Het
Gins4 A T 8: 23,724,796 (GRCm39) C53S probably damaging Het
Gja8 T A 3: 96,826,351 (GRCm39) probably benign Het
Golph3l T A 3: 95,524,734 (GRCm39) N328K probably benign Het
Haus6 A C 4: 86,503,524 (GRCm39) probably benign Het
Hdac5 A G 11: 102,091,389 (GRCm39) probably benign Het
Ide A G 19: 37,255,155 (GRCm39) Y883H unknown Het
Igf2r A G 17: 12,910,764 (GRCm39) probably null Het
Kdm3b T C 18: 34,943,446 (GRCm39) Y723H probably damaging Het
Kif21b G A 1: 136,079,063 (GRCm39) probably null Het
Lancl1 A T 1: 67,060,193 (GRCm39) N77K probably benign Het
Lyst T A 13: 13,812,349 (GRCm39) N920K probably damaging Het
Lyst G A 13: 13,933,963 (GRCm39) V3554I probably benign Het
Map1a G A 2: 121,136,386 (GRCm39) A2163T probably damaging Het
Myo10 C A 15: 25,781,204 (GRCm39) Q154K probably damaging Het
Or2a7 C T 6: 43,151,255 (GRCm39) L112F probably benign Het
Or2h15 A G 17: 38,441,441 (GRCm39) I214T probably damaging Het
Pcdhgb2 G A 18: 37,825,267 (GRCm39) V753M probably benign Het
Pnn T A 12: 59,117,013 (GRCm39) L195Q probably damaging Het
Pot1a A G 6: 25,771,540 (GRCm39) V227A possibly damaging Het
Ppp1r21 T A 17: 88,855,049 (GRCm39) D109E probably benign Het
Prr15l G A 11: 96,825,588 (GRCm39) G73S probably damaging Het
Rnf148 A G 6: 23,654,339 (GRCm39) F219S probably benign Het
Rnpep C A 1: 135,194,764 (GRCm39) probably benign Het
Ryr1 T C 7: 28,803,723 (GRCm39) T643A probably damaging Het
Ryr2 A T 13: 11,960,831 (GRCm39) C36S probably damaging Het
Shc3 G T 13: 51,596,805 (GRCm39) T406N probably benign Het
Slit3 G T 11: 35,579,420 (GRCm39) G1199V probably damaging Het
Spata6l G T 19: 28,919,175 (GRCm39) H195N possibly damaging Het
Sptbn5 G A 2: 119,880,601 (GRCm39) noncoding transcript Het
St8sia6 T C 2: 13,670,253 (GRCm39) N236D probably damaging Het
Stpg1 A T 4: 135,233,727 (GRCm39) Q3L probably benign Het
Sult3a1 T A 10: 33,742,550 (GRCm39) I59N probably damaging Het
Vmn1r208 T G 13: 22,956,958 (GRCm39) I180L probably benign Het
Vmn2r51 A T 7: 9,832,247 (GRCm39) N446K probably damaging Het
Vmn2r63 A T 7: 42,553,402 (GRCm39) I618N probably damaging Het
Wrn T C 8: 33,812,371 (GRCm39) N182S probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp764l1 A G 7: 126,992,521 (GRCm39) Y30H probably damaging Het
Zmynd8 A G 2: 165,676,871 (GRCm39) V249A possibly damaging Het
Zswim2 A G 2: 83,755,571 (GRCm39) L110P 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
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
R9243:Mapk7 UTSW 11 61,384,535 (GRCm39) missense possibly damaging 0.94
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'- GTCAAAGGTCACGTCGAAGG -3'
(R):5'- TTGGCAAGACTCAGGAATCC -3'

Sequencing Primer
(F):5'- TCACGTCGAAGGAGCGG -3'
(R):5'- TCCCAAATTCCCGAGGAGG -3'
Posted On 2016-04-15