Incidental Mutation 'R5418:Mapk14'
ID 427892
Institutional Source Beutler Lab
Gene Symbol Mapk14
Ensembl Gene ENSMUSG00000053436
Gene Name mitogen-activated protein kinase 14
Synonyms p38 MAP Kinase, Mxi2, CSBP2, p38 MAP kinase alpha, p38alpha, p38-alpha, p38, Csbp1, Crk1, p38a, p38 MAPK, p38 alpha, p38MAPK
MMRRC Submission 042986-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5418 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 28910303-28967380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28960817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 196 (V196A)
Ref Sequence ENSEMBL: ENSMUSP00000110402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004990] [ENSMUST00000062694] [ENSMUST00000114752] [ENSMUST00000114754] [ENSMUST00000114758]
AlphaFold P47811
Predicted Effect possibly damaging
Transcript: ENSMUST00000004990
AA Change: V273A

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000004990
Gene: ENSMUSG00000053436
AA Change: V273A

DomainStartEndE-ValueType
S_TKc 24 308 3.46e-91 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000062694
AA Change: V273A

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000061958
Gene: ENSMUSG00000053436
AA Change: V273A

DomainStartEndE-ValueType
S_TKc 24 308 7.42e-91 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114752
AA Change: V196A

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110400
Gene: ENSMUSG00000053436
AA Change: V196A

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 193 7.3e-22 PFAM
Pfam:Pkinase 1 231 1.9e-55 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114754
AA Change: V196A

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110402
Gene: ENSMUSG00000053436
AA Change: V196A

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 193 7.3e-22 PFAM
Pfam:Pkinase 1 231 1.9e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114758
SMART Domains Protein: ENSMUSP00000110406
Gene: ENSMUSG00000053436

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 24 242 3.8e-32 PFAM
Pfam:Pkinase 24 257 9.4e-65 PFAM
Pfam:Kdo 40 181 3e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151613
Meta Mutation Damage Score 0.1588 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (81/82)
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 activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for various null mutations are embryonic to perinatal lethal showing multiple organ system defects. Mice homozygous for a knock-out mutation exhibit abnormal myoblast differentiation and delayed myofiber growth and maturation. [provided by MGI curators]
Allele List at MGI

All alleles(20) : Targeted, knock-out(4) Targeted, other(9) Gene trapped(7)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A G 2: 35,244,738 (GRCm39) S205P probably damaging Het
Abcc1 T C 16: 14,278,996 (GRCm39) V1102A probably benign Het
Acad8 A T 9: 26,896,853 (GRCm39) M202K probably damaging Het
Acoxl T A 2: 127,719,722 (GRCm39) M161K probably benign Het
Adamts4 T A 1: 171,080,143 (GRCm39) V35E probably damaging Het
Add2 A G 6: 86,087,894 (GRCm39) S614G probably benign Het
Adgrv1 T A 13: 81,567,427 (GRCm39) I5249L probably benign Het
Agps A G 2: 75,689,248 (GRCm39) T252A probably damaging Het
Alms1-ps1 G A 6: 85,732,584 (GRCm39) noncoding transcript Het
Ankrd24 T A 10: 81,480,776 (GRCm39) probably benign Het
Bcl9l A G 9: 44,416,733 (GRCm39) Q218R possibly damaging Het
Bin2 T C 15: 100,547,027 (GRCm39) Y232C probably damaging Het
Bptf A G 11: 107,002,120 (GRCm39) Y331H probably damaging Het
Ccr10 C T 11: 101,064,904 (GRCm39) V209M probably benign Het
Cflar A T 1: 58,791,810 (GRCm39) D371V possibly damaging Het
Col1a2 A G 6: 4,516,931 (GRCm39) probably benign Het
Crlf2 A G 5: 109,704,899 (GRCm39) V104A probably benign Het
Dennd1c CCGCCCCTCGCTGACAGC CC 17: 57,373,755 (GRCm39) probably null Het
Dmxl2 A G 9: 54,281,935 (GRCm39) probably null Het
Dnah17 C A 11: 117,985,810 (GRCm39) E1422D probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Efcab11 A G 12: 99,821,877 (GRCm39) L80S possibly damaging Het
Emc8 G A 8: 121,385,342 (GRCm39) T130M probably damaging Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
Erc2 A G 14: 27,688,467 (GRCm39) M196V probably benign Het
Etnk2 T C 1: 133,300,995 (GRCm39) I254T probably damaging Het
Fam120b C T 17: 15,622,061 (GRCm39) T13M probably damaging Het
Fam234b A G 6: 135,203,966 (GRCm39) K423E probably benign Het
Fcgbp G A 7: 27,784,738 (GRCm39) G266D probably damaging Het
Fndc4 A T 5: 31,451,978 (GRCm39) S146R probably benign Het
Frmd3 G A 4: 74,079,935 (GRCm39) probably null Het
Glrx2 C A 1: 143,615,446 (GRCm39) S16R possibly damaging Het
Gm26526 T G 7: 39,238,358 (GRCm39) noncoding transcript Het
Hc C T 2: 34,898,195 (GRCm39) probably null Het
Herc2 T C 7: 55,787,313 (GRCm39) C1695R probably damaging Het
Hic1 A G 11: 75,057,425 (GRCm39) probably null Het
Igkv4-92 A T 6: 68,732,564 (GRCm39) V5E possibly damaging Het
Irs1 G A 1: 82,266,491 (GRCm39) T575I probably damaging Het
Kcp A T 6: 29,504,283 (GRCm39) Y143* probably null Het
Klb A G 5: 65,540,813 (GRCm39) N969D probably benign Het
Klra6 T A 6: 129,990,393 (GRCm39) L239F probably damaging Het
Lhx6 A G 2: 35,977,378 (GRCm39) probably null Het
Lrrc34 G A 3: 30,696,923 (GRCm39) P116S possibly damaging Het
Map3k9 T A 12: 81,790,591 (GRCm39) K321* probably null Het
Matcap2 G T 9: 22,343,066 (GRCm39) R187L probably damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mtmr12 T C 15: 12,270,045 (GRCm39) L711P probably damaging Het
Mylk T C 16: 34,732,600 (GRCm39) S627P probably benign Het
Nbea A T 3: 55,553,410 (GRCm39) Y2631N possibly damaging Het
Ncoa7 A G 10: 30,524,035 (GRCm39) V153A probably damaging Het
Or4a79 T C 2: 89,552,343 (GRCm39) I37M probably benign Het
Pax6 A T 2: 105,521,910 (GRCm39) D175V probably benign Het
Piezo1 A G 8: 123,213,519 (GRCm39) L1793P probably damaging Het
Pkp4 T C 2: 59,140,506 (GRCm39) V404A probably benign Het
Plxnb2 A G 15: 89,050,694 (GRCm39) Y421H probably benign Het
Prkdc T G 16: 15,612,961 (GRCm39) V3173G probably benign Het
Prss40 A T 1: 34,599,840 (GRCm39) I49N probably benign Het
Prx T A 7: 27,216,699 (GRCm39) V400E probably damaging Het
Rbm11 A C 16: 75,393,423 (GRCm39) T40P probably damaging Het
Resf1 T C 6: 149,227,634 (GRCm39) Y227H probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Sema3f A G 9: 107,569,820 (GRCm39) Y70H probably damaging Het
Senp6 G A 9: 80,029,151 (GRCm39) E505K possibly damaging Het
Slc25a3 T C 10: 90,955,398 (GRCm39) I147M probably benign Het
Slc4a7 T A 14: 14,760,280 (GRCm38) S572T probably benign Het
Smarcal1 C T 1: 72,638,068 (GRCm39) P501S probably benign Het
Sox7 C T 14: 64,185,396 (GRCm39) T144M probably benign Het
Taar1 T C 10: 23,797,214 (GRCm39) F304S possibly damaging Het
Tcf3 A G 10: 80,263,517 (GRCm39) F46L probably damaging Het
Tmem184c A G 8: 78,324,449 (GRCm39) V347A probably damaging Het
Tpcn2 C T 7: 144,832,518 (GRCm39) E113K probably damaging Het
Vmn1r232 T A 17: 21,134,378 (GRCm39) Y74F possibly damaging Het
Vmn2r102 C T 17: 19,914,415 (GRCm39) T660I probably damaging Het
Zdhhc3 A G 9: 122,909,456 (GRCm39) M234T probably damaging Het
Zfp960 T A 17: 17,307,805 (GRCm39) L173H probably damaging Het
Other mutations in Mapk14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Mapk14 APN 17 28,944,820 (GRCm39) critical splice donor site probably null
IGL03013:Mapk14 APN 17 28,947,323 (GRCm39) splice site probably benign
Hanzhou UTSW 17 28,964,052 (GRCm39) missense probably damaging 0.99
Wanzhou UTSW 17 28,943,798 (GRCm39) missense probably damaging 1.00
D4043:Mapk14 UTSW 17 28,964,124 (GRCm39) missense probably damaging 1.00
R0418:Mapk14 UTSW 17 28,910,763 (GRCm39) missense probably benign
R4513:Mapk14 UTSW 17 28,943,798 (GRCm39) missense probably damaging 1.00
R4514:Mapk14 UTSW 17 28,943,798 (GRCm39) missense probably damaging 1.00
R4674:Mapk14 UTSW 17 28,963,996 (GRCm39) splice site probably null
R4981:Mapk14 UTSW 17 28,960,765 (GRCm39) missense probably damaging 1.00
R7477:Mapk14 UTSW 17 28,964,052 (GRCm39) missense probably damaging 0.99
R7792:Mapk14 UTSW 17 28,965,271 (GRCm39) missense probably damaging 0.99
R7915:Mapk14 UTSW 17 28,947,928 (GRCm39) missense probably benign 0.00
R8208:Mapk14 UTSW 17 28,943,807 (GRCm39) missense probably damaging 1.00
R8241:Mapk14 UTSW 17 28,934,374 (GRCm39) missense possibly damaging 0.89
R8407:Mapk14 UTSW 17 28,963,983 (GRCm39) missense probably benign
R9048:Mapk14 UTSW 17 28,947,358 (GRCm39) missense probably benign
R9095:Mapk14 UTSW 17 28,934,413 (GRCm39) missense probably benign 0.00
R9169:Mapk14 UTSW 17 28,960,814 (GRCm39) missense probably benign
R9549:Mapk14 UTSW 17 28,934,415 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCTGAATTGAGCATCCCAG -3'
(R):5'- TGTGACAATACAGACAGACAGTAAC -3'

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