Incidental Mutation 'R5408:Mapk3'
ID 426392
Institutional Source Beutler Lab
Gene Symbol Mapk3
Ensembl Gene ENSMUSG00000063065
Gene Name mitogen-activated protein kinase 3
Synonyms p44 MAP kinase, p44erk1, Erk1, Prkm3, Erk-1, Mtap2k, p44mapk, Esrk1
MMRRC Submission 042977-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5408 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 126358798-126364988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126363007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 253 (D253G)
Ref Sequence ENSEMBL: ENSMUSP00000101969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032944] [ENSMUST00000050201] [ENSMUST00000057669] [ENSMUST00000091328]
AlphaFold Q63844
Predicted Effect probably benign
Transcript: ENSMUST00000032944
SMART Domains Protein: ENSMUSP00000032944
Gene: ENSMUSG00000030703

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
Pfam:GDPD 44 202 1.1e-23 PFAM
low complexity region 208 216 N/A INTRINSIC
low complexity region 311 321 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000050201
AA Change: D253G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101969
Gene: ENSMUSG00000063065
AA Change: D253G

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
S_TKc 43 331 3.3e-97 SMART
Predicted Effect unknown
Transcript: ENSMUST00000057669
AA Change: D253G
SMART Domains Protein: ENSMUSP00000051619
Gene: ENSMUSG00000063065
AA Change: D253G

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
S_TKc 43 331 3.3e-97 SMART
Blast:S_TKc 335 372 1e-15 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000091328
AA Change: D138G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000088880
Gene: ENSMUSG00000063065
AA Change: D138G

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 213 2.5e-24 PFAM
Pfam:Pkinase 1 216 2.2e-58 PFAM
Pfam:APH 17 108 7.6e-7 PFAM
Blast:S_TKc 220 257 4e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145965
Predicted Effect unknown
Transcript: ENSMUST00000206272
AA Change: D150G
Predicted Effect unknown
Transcript: ENSMUST00000205657
AA Change: D251G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206350
Meta Mutation Damage Score 0.4153 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (74/75)
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, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are hyperactive with impaired T cell maturation and proliferation. Mice homozygous for a knock-out allele on a CD-1 background exhibit normal Mendelian ratios, growth, and no obvious abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,054,979 (GRCm39) noncoding transcript Het
Actn2 T C 13: 12,285,681 (GRCm39) I837V probably benign Het
Adora1 T A 1: 134,130,901 (GRCm39) T257S probably benign Het
Akap9 T A 5: 4,108,458 (GRCm39) M2954K possibly damaging Het
Akr1c13 G T 13: 4,244,715 (GRCm39) A98S probably benign Het
Aldh2 C T 5: 121,708,620 (GRCm39) probably benign Het
Ank1 A G 8: 23,572,209 (GRCm39) N48D probably damaging Het
Ash1l A G 3: 88,889,701 (GRCm39) T527A probably damaging Het
Atp13a1 T C 8: 70,249,490 (GRCm39) V251A probably benign Het
Baz1a A T 12: 54,969,835 (GRCm39) D608E probably damaging Het
Bend5 A T 4: 111,311,280 (GRCm39) probably null Het
Blm T G 7: 80,152,370 (GRCm39) T526P probably benign Het
Cacna1a T C 8: 85,276,336 (GRCm39) V559A probably damaging Het
Cacna2d4 A G 6: 119,325,752 (GRCm39) D1042G probably damaging Het
Cadps T C 14: 12,705,759 (GRCm38) H212R possibly damaging Het
Cdh3 T C 8: 107,263,269 (GRCm39) I106T probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cfap68 T C 9: 50,676,057 (GRCm39) N87S probably damaging Het
Col16a1 A T 4: 129,986,898 (GRCm39) probably benign Het
Dctn6 C T 8: 34,562,056 (GRCm39) V89I possibly damaging Het
Dgkz C A 2: 91,766,168 (GRCm39) G798W possibly damaging Het
Epb41l2 A T 10: 25,343,992 (GRCm39) probably null Het
Fam171a2 T C 11: 102,328,344 (GRCm39) K805R possibly damaging Het
Fam89b G T 19: 5,779,421 (GRCm39) Y45* probably null Het
Fchsd2 A G 7: 100,920,781 (GRCm39) N462S possibly damaging Het
Fyco1 T G 9: 123,658,568 (GRCm39) H536P probably damaging Het
Galnt12 A T 4: 47,104,169 (GRCm39) E142D probably damaging Het
Gspt1 C T 16: 11,071,719 (GRCm39) G48D probably benign Het
H6pd A G 4: 150,067,322 (GRCm39) S355P probably damaging Het
Hectd2 T C 19: 36,532,296 (GRCm39) V38A possibly damaging Het
Jup C T 11: 100,267,607 (GRCm39) R572Q probably damaging Het
Kcng3 T C 17: 83,938,434 (GRCm39) D205G probably benign Het
Kif13b A T 14: 65,017,138 (GRCm39) probably null Het
Methig1 A T 15: 100,281,635 (GRCm39) Y253F possibly damaging Het
Mmp3 T C 9: 7,449,904 (GRCm39) S263P probably damaging Het
Mpo T A 11: 87,691,851 (GRCm39) probably null Het
Nbeal2 C A 9: 110,466,588 (GRCm39) G772W possibly damaging Het
Nr1d1 T A 11: 98,661,087 (GRCm39) H393L probably benign Het
Obscn A G 11: 58,942,437 (GRCm39) V4915A probably damaging Het
Olfml2b T A 1: 170,472,545 (GRCm39) W19R probably damaging Het
Or13p4 T C 4: 118,547,641 (GRCm39) T3A probably benign Het
Or56b1b C T 7: 108,164,376 (GRCm39) A209T probably damaging Het
Padi6 G A 4: 140,454,996 (GRCm39) T647I probably damaging Het
Pcyox1 A G 6: 86,369,280 (GRCm39) L113S probably damaging Het
Pde4dip T A 3: 97,704,052 (GRCm39) T192S probably benign Het
Pip4k2a T C 2: 18,911,119 (GRCm39) H87R probably benign Het
Pkd1l3 C A 8: 110,393,684 (GRCm39) T2004N probably damaging Het
Prex1 CGTTGTTGTTGT CGTTGTTGTTGTTGT 2: 166,417,573 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,002,599 (GRCm39) T1563I probably damaging Het
Reg3b T C 6: 78,350,215 (GRCm39) V165A probably benign Het
Rreb1 A G 13: 38,115,320 (GRCm39) D893G probably benign Het
Sap18 A T 14: 58,039,431 (GRCm39) M78L probably benign Het
Scaper A T 9: 55,493,508 (GRCm39) F1226I probably damaging Het
Scyl3 A T 1: 163,782,245 (GRCm39) probably null Het
Shoc2 A G 19: 53,976,556 (GRCm39) M149V probably benign Het
Slc7a2 G A 8: 41,368,042 (GRCm39) R602K probably damaging Het
Sox30 A G 11: 45,882,694 (GRCm39) I575V possibly damaging Het
Trim14 A T 4: 46,507,134 (GRCm39) C361S possibly damaging Het
Ttn T C 2: 76,731,272 (GRCm39) probably benign Het
Uncx A T 5: 139,530,245 (GRCm39) K108* probably null Het
Usp54 A T 14: 20,600,501 (GRCm39) L1412Q probably damaging Het
Uty A G Y: 1,245,614 (GRCm39) V6A possibly damaging Het
Vmn1r30 C T 6: 58,412,029 (GRCm39) V268I probably benign Het
Wdsub1 T C 2: 59,691,887 (GRCm39) probably benign Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Xcr1 T A 9: 123,685,631 (GRCm39) I44F probably benign Het
Zfp687 T C 3: 94,916,586 (GRCm39) probably benign Het
Zfp729b A T 13: 67,739,563 (GRCm39) S901T probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zswim9 T C 7: 12,994,753 (GRCm39) K468E possibly damaging Het
Other mutations in Mapk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Mapk3 APN 7 126,363,946 (GRCm39) nonsense probably null
IGL02412:Mapk3 APN 7 126,362,210 (GRCm39) nonsense probably null
wabasha UTSW 7 126,362,684 (GRCm39) nonsense probably null
R0078:Mapk3 UTSW 7 126,358,977 (GRCm39) missense probably damaging 1.00
R0532:Mapk3 UTSW 7 126,362,558 (GRCm39) intron probably benign
R1549:Mapk3 UTSW 7 126,362,684 (GRCm39) nonsense probably null
R2913:Mapk3 UTSW 7 126,359,978 (GRCm39) nonsense probably null
R5220:Mapk3 UTSW 7 126,363,408 (GRCm39) missense probably benign
R5729:Mapk3 UTSW 7 126,363,979 (GRCm39) missense probably benign 0.01
R5929:Mapk3 UTSW 7 126,359,030 (GRCm39) unclassified probably benign
R6307:Mapk3 UTSW 7 126,363,454 (GRCm39) missense probably benign 0.03
R6359:Mapk3 UTSW 7 126,359,928 (GRCm39) missense probably benign
R7356:Mapk3 UTSW 7 126,360,087 (GRCm39) critical splice donor site probably null
R7380:Mapk3 UTSW 7 126,363,967 (GRCm39) missense
R7384:Mapk3 UTSW 7 126,363,463 (GRCm39) missense
R8177:Mapk3 UTSW 7 126,362,937 (GRCm39) missense probably null
R9296:Mapk3 UTSW 7 126,363,518 (GRCm39) missense
R9362:Mapk3 UTSW 7 126,363,444 (GRCm39) missense
X0017:Mapk3 UTSW 7 126,363,420 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGAGAGTAGAGTTTTCCTCGGCTC -3'
(R):5'- TTCTCAGGGGTACGGCTTAG -3'

Sequencing Primer
(F):5'- AGATCTAAGTTGGATATGGTGCC -3'
(R):5'- GCTTAGCCTTGCTTTCCCCAG -3'
Posted On 2016-09-01