Incidental Mutation 'R0078:Mapk3'
ID 44145
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 038365-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0078 (G1)
Quality Score 127
Status Validated
Chromosome 7
Chromosomal Location 126358798-126364988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126358977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 54 (Y54H)
Ref Sequence ENSEMBL: ENSMUSP00000101969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050201] [ENSMUST00000057669] [ENSMUST00000091328]
AlphaFold Q63844
Predicted Effect probably damaging
Transcript: ENSMUST00000050201
AA Change: Y54H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101969
Gene: ENSMUSG00000063065
AA Change: Y54H

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: Y54H
SMART Domains Protein: ENSMUSP00000051619
Gene: ENSMUSG00000063065
AA Change: Y54H

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 benign
Transcript: ENSMUST00000091328
SMART Domains Protein: ENSMUSP00000088880
Gene: ENSMUSG00000063065

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: ENSMUST00000205657
AA Change: Y52H
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206875
Predicted Effect probably benign
Transcript: ENSMUST00000206272
Meta Mutation Damage Score 0.5888 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.2%
Validation Efficiency 81% (203/250)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,891,129 (GRCm39) Q456L probably benign Het
Abcf1 A G 17: 36,268,954 (GRCm39) probably benign Het
Adamts7 A T 9: 90,061,464 (GRCm39) S357C probably damaging Het
Ankrd26 A G 6: 118,512,030 (GRCm39) probably benign Het
Asb17 T A 3: 153,550,301 (GRCm39) V111E probably damaging Het
C1qtnf4 C A 2: 90,719,893 (GRCm39) N55K probably damaging Het
Cacng5 G T 11: 107,768,259 (GRCm39) D249E probably benign Het
Camkk2 C A 5: 122,895,622 (GRCm39) probably null Het
Ccdc27 T G 4: 154,120,195 (GRCm39) probably benign Het
Cfap251 G A 5: 123,436,633 (GRCm39) R1054H probably benign Het
Cngb1 T A 8: 95,991,173 (GRCm39) probably null Het
Col7a1 A G 9: 108,803,981 (GRCm39) probably benign Het
Corin T A 5: 72,611,816 (GRCm39) D148V possibly damaging Het
Cstdc1 T A 2: 148,627,745 (GRCm39) *131K probably null Het
Defb26 A C 2: 152,349,988 (GRCm39) D97E possibly damaging Het
Dgkb A G 12: 38,186,540 (GRCm39) N237D probably benign Het
Dsp A G 13: 38,379,993 (GRCm39) N1647S probably benign Het
Dtna G A 18: 23,754,499 (GRCm39) A438T probably damaging Het
Erbb3 G T 10: 128,419,310 (GRCm39) F219L probably damaging Het
EU599041 G A 7: 42,875,275 (GRCm39) noncoding transcript Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Fat4 T C 3: 38,943,080 (GRCm39) S658P probably benign Het
Fgfr2 C T 7: 129,802,805 (GRCm39) D168N possibly damaging Het
Fstl5 T A 3: 76,566,952 (GRCm39) probably benign Het
Glmn C T 5: 107,705,836 (GRCm39) V451I probably benign Het
Gm9938 T A 19: 23,701,988 (GRCm39) probably benign Het
Gpat2 T C 2: 127,270,169 (GRCm39) S61P probably damaging Het
Gpr22 T A 12: 31,761,640 (GRCm39) M6L probably benign Het
Grm5 T C 7: 87,724,185 (GRCm39) L825P probably damaging Het
Gstz1 A T 12: 87,206,477 (GRCm39) I66F probably benign Het
H2-T22 A G 17: 36,351,501 (GRCm39) V243A probably damaging Het
H2-T5 A T 17: 36,476,353 (GRCm39) S304T possibly damaging Het
Hivep1 C T 13: 42,309,517 (GRCm39) L586F probably damaging Het
Hmcn2 T G 2: 31,278,356 (GRCm39) L1686R probably damaging Het
Ice1 T C 13: 70,751,467 (GRCm39) R1540G probably damaging Het
Igha T A 12: 113,223,547 (GRCm39) probably benign Het
Kif3a C A 11: 53,469,812 (GRCm39) T141K probably benign Het
Knl1 G A 2: 118,900,373 (GRCm39) M691I probably benign Het
L3mbtl1 T C 2: 162,789,146 (GRCm39) V13A probably benign Het
Lamc1 T A 1: 153,104,936 (GRCm39) N1282I probably damaging Het
Lemd2 G T 17: 27,422,702 (GRCm39) L231I probably benign Het
Lrrk2 G A 15: 91,618,212 (GRCm39) V904M probably benign Het
Lyzl6 C T 11: 103,524,795 (GRCm39) S103N probably benign Het
Macf1 T A 4: 123,367,661 (GRCm39) R2367W probably damaging Het
Mlh3 A T 12: 85,315,592 (GRCm39) V198D probably damaging Het
Myocd T C 11: 65,078,290 (GRCm39) S374G possibly damaging Het
Ngef T C 1: 87,468,387 (GRCm39) E124G probably benign Het
Nhsl3 T C 4: 129,121,516 (GRCm39) probably null Het
Nr4a2 T C 2: 57,002,240 (GRCm39) Y8C probably damaging Het
Nynrin T A 14: 56,100,789 (GRCm39) V193D probably damaging Het
Or10ak9 T A 4: 118,726,424 (GRCm39) S148T probably benign Het
Or10w1 G T 19: 13,632,179 (GRCm39) V129F probably benign Het
Or1p1 A T 11: 74,180,092 (GRCm39) I207F probably damaging Het
Or4k36 A T 2: 111,146,249 (GRCm39) I142F probably benign Het
Or6d15 A G 6: 116,559,701 (GRCm39) S69P probably damaging Het
Pcdh18 T C 3: 49,710,793 (GRCm39) Y174C probably damaging Het
Pcf11 T C 7: 92,318,767 (GRCm39) D21G possibly damaging Het
Pdia4 A C 6: 47,775,344 (GRCm39) F489V possibly damaging Het
Pitrm1 C T 13: 6,625,068 (GRCm39) P849S probably damaging Het
Plcz1 T C 6: 139,935,510 (GRCm39) Y644C probably damaging Het
Ppp5c T C 7: 16,761,650 (GRCm39) E28G probably benign Het
Prkcb A G 7: 122,189,393 (GRCm39) Y507C probably damaging Het
Rims2 A G 15: 39,398,251 (GRCm39) D1072G probably benign Het
Scarf1 A G 11: 75,405,988 (GRCm39) probably benign Het
Scoc T A 8: 84,184,887 (GRCm39) probably null Het
Sh2d4a A T 8: 68,734,973 (GRCm39) M31L probably damaging Het
Spta1 T A 1: 174,034,598 (GRCm39) probably benign Het
Stard7 A G 2: 127,134,127 (GRCm39) Y270C probably damaging Het
Svs3b T C 2: 164,097,881 (GRCm39) T147A probably benign Het
Tmtc3 A G 10: 100,284,823 (GRCm39) L604P probably damaging Het
Trim30b A T 7: 104,015,102 (GRCm39) N95K probably benign Het
Trpm8 C A 1: 88,255,870 (GRCm39) probably benign Het
Tspan9 T C 6: 127,943,448 (GRCm39) probably null Het
Tubgcp5 C T 7: 55,468,643 (GRCm39) R713C probably damaging Het
Tyro3 A T 2: 119,647,487 (GRCm39) Q872L probably damaging Het
Vmn1r204 G A 13: 22,740,379 (GRCm39) M3I probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Wdfy3 A G 5: 102,035,971 (GRCm39) I2149T possibly damaging Het
Zfp668 A T 7: 127,467,210 (GRCm39) M122K possibly damaging Het
Zkscan1 A T 5: 138,091,363 (GRCm39) D32V probably 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
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
R5408:Mapk3 UTSW 7 126,363,007 (GRCm39) missense probably damaging 1.00
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'- TGGCAGACTAAAGTACCCTAGTGGC -3'
(R):5'- CCCTCCCTTAACAATACAAGGTGGC -3'

Sequencing Primer
(F):5'- cggtgacagggcggtag -3'
(R):5'- AAGGTGGCTTCAAAGCCTC -3'
Posted On 2013-06-11