Incidental Mutation 'IGL00938:Mapkapk5'
ID 27447
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapkapk5
Ensembl Gene ENSMUSG00000029454
Gene Name MAP kinase-activated protein kinase 5
Synonyms MK5, PRAK
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00938
Quality Score
Status
Chromosome 5
Chromosomal Location 121663114-121683955 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 121675166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031410] [ENSMUST00000111782] [ENSMUST00000111783] [ENSMUST00000111786] [ENSMUST00000125946] [ENSMUST00000196315] [ENSMUST00000200170]
AlphaFold O54992
Predicted Effect probably benign
Transcript: ENSMUST00000031410
SMART Domains Protein: ENSMUSP00000031410
Gene: ENSMUSG00000029454

DomainStartEndE-ValueType
S_TKc 22 304 8.22e-84 SMART
coiled coil region 409 434 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000111781
SMART Domains Protein: ENSMUSP00000107411
Gene: ENSMUSG00000029454

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 200 1.9e-15 PFAM
Pfam:Pkinase 1 203 1.2e-48 PFAM
coiled coil region 308 333 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111782
SMART Domains Protein: ENSMUSP00000107412
Gene: ENSMUSG00000029454

DomainStartEndE-ValueType
Pfam:Pkinase 6 155 3.7e-27 PFAM
coiled coil region 258 283 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111783
SMART Domains Protein: ENSMUSP00000107413
Gene: ENSMUSG00000029454

DomainStartEndE-ValueType
S_TKc 22 304 8.22e-84 SMART
coiled coil region 407 432 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111786
SMART Domains Protein: ENSMUSP00000107416
Gene: ENSMUSG00000029454

DomainStartEndE-ValueType
Pfam:Pkinase 6 155 3.8e-27 PFAM
coiled coil region 260 285 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125946
SMART Domains Protein: ENSMUSP00000142503
Gene: ENSMUSG00000105340

DomainStartEndE-ValueType
S_TKc 22 304 5.3e-84 SMART
coiled coil region 407 432 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131914
Predicted Effect probably benign
Transcript: ENSMUST00000196315
SMART Domains Protein: ENSMUSP00000142346
Gene: ENSMUSG00000029454

DomainStartEndE-ValueType
STYKc 22 179 4.1e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200170
SMART Domains Protein: ENSMUSP00000143668
Gene: ENSMUSG00000072647

DomainStartEndE-ValueType
S_TKc 22 304 8.22e-84 SMART
coiled coil region 407 432 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153763
SMART Domains Protein: ENSMUSP00000119182
Gene: ENSMUSG00000029454

DomainStartEndE-ValueType
S_TKc 22 304 8.22e-84 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151352
Coding Region Coverage
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 tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutant mice are viable, fertile, and show no overt abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A G 4: 86,260,515 (GRCm39) I909V possibly damaging Het
Alkal2 C A 12: 30,937,089 (GRCm39) H101N probably damaging Het
Camk2g C T 14: 20,787,398 (GRCm39) G500S probably damaging Het
Col4a1 G A 8: 11,286,456 (GRCm39) probably benign Het
Fry T A 5: 150,293,645 (GRCm39) V446E probably damaging Het
Gpc2 C A 5: 138,277,169 (GRCm39) R86L probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Krt16 A T 11: 100,139,543 (GRCm39) C58* probably null Het
Ltbp2 T C 12: 84,878,573 (GRCm39) R309G probably benign Het
Mpdz G A 4: 81,210,749 (GRCm39) A1665V probably damaging Het
Mpp7 T C 18: 7,353,297 (GRCm39) T470A probably benign Het
Mypn T A 10: 63,028,202 (GRCm39) D287V probably damaging Het
Nup160 T C 2: 90,563,171 (GRCm39) L1312P probably damaging Het
Or4a77 C T 2: 89,487,420 (GRCm39) V122M probably damaging Het
Or6k14 T C 1: 173,927,933 (GRCm39) M303T probably benign Het
Poln C A 5: 34,286,568 (GRCm39) C200F probably damaging Het
Pparg A G 6: 115,440,100 (GRCm39) I225V probably benign Het
Pspn T C 17: 57,306,629 (GRCm39) E100G probably benign Het
Slc12a8 G A 16: 33,361,267 (GRCm39) V50I probably damaging Het
Suz12 A G 11: 79,898,395 (GRCm39) probably benign Het
Ubiad1 A G 4: 148,520,814 (GRCm39) F270S probably benign Het
Vmn1r185 T C 7: 26,311,116 (GRCm39) I130V probably benign Het
Vmn1r210 A T 13: 23,011,538 (GRCm39) C249* probably null Het
Other mutations in Mapkapk5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1015:Mapkapk5 UTSW 5 121,671,425 (GRCm39) missense probably benign 0.17
R2180:Mapkapk5 UTSW 5 121,673,927 (GRCm39) splice site probably null
R4445:Mapkapk5 UTSW 5 121,663,291 (GRCm39) missense probably benign
R4539:Mapkapk5 UTSW 5 121,675,218 (GRCm39) missense possibly damaging 0.82
R5217:Mapkapk5 UTSW 5 121,672,492 (GRCm39) missense probably damaging 1.00
R5229:Mapkapk5 UTSW 5 121,671,454 (GRCm39) critical splice acceptor site probably null
R5422:Mapkapk5 UTSW 5 121,669,785 (GRCm39) critical splice acceptor site probably null
R5963:Mapkapk5 UTSW 5 121,676,544 (GRCm39) missense probably damaging 1.00
R6378:Mapkapk5 UTSW 5 121,677,233 (GRCm39) critical splice donor site probably null
R7021:Mapkapk5 UTSW 5 121,665,274 (GRCm39) missense probably benign 0.02
R7303:Mapkapk5 UTSW 5 121,678,637 (GRCm39) missense probably benign 0.02
R7360:Mapkapk5 UTSW 5 121,675,169 (GRCm39) splice site probably benign
R7432:Mapkapk5 UTSW 5 121,675,234 (GRCm39) missense possibly damaging 0.56
R7848:Mapkapk5 UTSW 5 121,683,232 (GRCm39) missense probably benign 0.01
R7973:Mapkapk5 UTSW 5 121,663,776 (GRCm39) missense possibly damaging 0.92
R8736:Mapkapk5 UTSW 5 121,665,241 (GRCm39) missense possibly damaging 0.50
R9561:Mapkapk5 UTSW 5 121,672,490 (GRCm39) missense probably benign 0.32
RF016:Mapkapk5 UTSW 5 121,671,379 (GRCm39) missense probably damaging 1.00
Z1088:Mapkapk5 UTSW 5 121,669,654 (GRCm39) missense probably benign 0.33
Posted On 2013-04-17