Incidental Mutation 'R3831:Mapk7'
ID 274016
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 040777-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3831 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 61379638-61385101 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61380680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 641 (S641P)
Ref Sequence ENSEMBL: ENSMUSP00000104354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040522] [ENSMUST00000064783] [ENSMUST00000079080] [ENSMUST00000101085] [ENSMUST00000108714] [ENSMUST00000153441]
AlphaFold Q9WVS8
Predicted Effect probably benign
Transcript: ENSMUST00000040522
SMART Domains Protein: ENSMUSP00000038971
Gene: ENSMUSG00000042436

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
FBG 38 280 5.6e-119 SMART
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: S710P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000078087
Gene: ENSMUSG00000001034
AA Change: S710P

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 possibly damaging
Transcript: ENSMUST00000101085
AA Change: S607P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000098646
Gene: ENSMUSG00000001034
AA Change: S607P

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 possibly damaging
Transcript: ENSMUST00000108714
AA Change: S641P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104354
Gene: ENSMUSG00000001034
AA Change: S641P

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 unknown
Transcript: ENSMUST00000153441
AA Change: S189P
SMART Domains Protein: ENSMUSP00000116084
Gene: ENSMUSG00000001034
AA Change: S189P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139932
Meta Mutation Damage Score 0.0759 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
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 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
4930563M21Rik T C 9: 55,880,992 (GRCm39) T527A unknown Het
Bcat1 T A 6: 144,955,834 (GRCm39) D349V probably damaging Het
Cacna1c A G 6: 118,581,424 (GRCm39) S1727P probably benign Het
Cacnb2 A T 2: 14,986,236 (GRCm39) I338F probably damaging Het
Cemip2 T G 19: 21,825,315 (GRCm39) S1204R probably damaging Het
Cibar2 T A 8: 120,901,633 (GRCm39) Y24F probably damaging Het
Cyb5d2 G T 11: 72,686,349 (GRCm39) S80R possibly damaging Het
Cyfip2 T C 11: 46,152,333 (GRCm39) D485G probably benign Het
Cyp27b1 G T 10: 126,886,929 (GRCm39) V382L probably damaging Het
Dpp9 A T 17: 56,506,113 (GRCm39) F429I possibly damaging Het
Frmd4b T A 6: 97,389,486 (GRCm39) K73* probably null Het
Hao1 A T 2: 134,364,925 (GRCm39) V234D probably damaging Het
Hkdc1 T C 10: 62,235,991 (GRCm39) Y517C probably benign Het
Iglv2 A T 16: 19,079,593 (GRCm39) M1K probably null Het
Inpp5j T C 11: 3,450,229 (GRCm39) D228G probably damaging Het
Itih5 A G 2: 10,256,081 (GRCm39) D849G possibly damaging Het
Itpkb T C 1: 180,161,260 (GRCm39) V462A probably benign Het
Kif26b GAAA GAA 1: 178,744,181 (GRCm39) probably null Het
Kremen1 G GGGC 11: 5,151,794 (GRCm39) probably benign Het
Lzic G C 4: 149,573,185 (GRCm39) E112D probably null Het
Mageh1 A T X: 151,820,004 (GRCm39) W111R probably damaging Het
Mapt A T 11: 104,177,961 (GRCm39) Q38L possibly damaging Het
Med12 C A X: 100,339,498 (GRCm39) P2037Q possibly damaging Het
Med22 A G 2: 26,800,379 (GRCm39) S17P probably damaging Het
Melk C A 4: 44,345,021 (GRCm39) Q384K probably benign Het
Morc2b C T 17: 33,356,233 (GRCm39) S513N probably benign Het
Nap1l3 A G X: 121,305,995 (GRCm39) V241A possibly damaging Het
Or2t45 T A 11: 58,669,571 (GRCm39) probably null Het
Or56a4 A G 7: 104,806,589 (GRCm39) F100S probably damaging Het
Or9e1 T G 11: 58,732,686 (GRCm39) F249V probably damaging Het
Pdgfd T C 9: 6,359,762 (GRCm39) S278P probably damaging Het
Pgc C A 17: 48,040,236 (GRCm39) F93L probably null Het
Phf14 A G 6: 11,933,873 (GRCm39) probably null Het
Pja2 T C 17: 64,616,397 (GRCm39) D166G probably benign Het
Rgs5 A G 1: 169,504,470 (GRCm39) Y40C probably benign Het
Rsad1 A G 11: 94,434,130 (GRCm39) V366A probably benign Het
S100a10 T C 3: 93,471,680 (GRCm39) V88A probably damaging Het
Scarf1 T C 11: 75,406,078 (GRCm39) C121R probably damaging Het
Scn7a A G 2: 66,528,028 (GRCm39) S821P probably damaging Het
Sco1 T C 11: 66,944,605 (GRCm39) V76A probably damaging Het
Selp T A 1: 163,959,849 (GRCm39) C368* probably null Het
Sema3e T A 5: 14,276,496 (GRCm39) C294S probably damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Smarca5 A T 8: 81,455,123 (GRCm39) N199K probably damaging Het
Sorbs2 A T 8: 46,248,132 (GRCm39) D442V probably damaging Het
Specc1 T A 11: 62,008,793 (GRCm39) I183N probably damaging Het
Tcerg1 G T 18: 42,701,554 (GRCm39) R872L probably damaging Het
Tekt1 T C 11: 72,245,645 (GRCm39) N170S probably benign Het
Thsd1 T G 8: 22,733,132 (GRCm39) S60A possibly damaging Het
Usp24 T C 4: 106,219,209 (GRCm39) probably null Het
Usp28 A G 9: 48,946,938 (GRCm39) T505A probably benign Het
Zcchc17 T C 4: 130,232,317 (GRCm39) D62G probably benign Het
Zfp445 T G 9: 122,681,541 (GRCm39) E800A probably damaging Het
Zranb1 C T 7: 132,584,505 (GRCm39) A591V 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
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
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'- TTCCAACAGGCTCTCCACTG -3'
(R):5'- AGTCTACTGGTCCTCTACAGC -3'

Sequencing Primer
(F):5'- GGCCTTCTATGTTCCCTCTATGAG -3'
(R):5'- AGGCTCTATTCCGGGTCCTG -3'
Posted On 2015-04-02