Incidental Mutation 'IGL01545:Dusp2'
ID90312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dusp2
Ensembl Gene ENSMUSG00000027368
Gene Namedual specificity phosphatase 2
SynonymsPAC1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01545
Quality Score
Status
Chromosome2
Chromosomal Location127336159-127338376 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127337775 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 313 (T313A)
Ref Sequence ENSEMBL: ENSMUSP00000028846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028846] [ENSMUST00000059839] [ENSMUST00000089673] [ENSMUST00000156747] [ENSMUST00000179618]
Predicted Effect probably benign
Transcript: ENSMUST00000028846
AA Change: T313A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000028846
Gene: ENSMUSG00000027368
AA Change: T313A

DomainStartEndE-ValueType
RHOD 17 145 6.72e-10 SMART
DSPc 176 314 1.49e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000059839
SMART Domains Protein: ENSMUSP00000054456
Gene: ENSMUSG00000050468

DomainStartEndE-ValueType
Blast:ZnMc 31 60 4e-8 BLAST
ZnMc 69 213 1.13e-39 SMART
low complexity region 292 308 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089673
SMART Domains Protein: ENSMUSP00000087102
Gene: ENSMUSG00000050468

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Blast:ZnMc 52 81 5e-8 BLAST
ZnMc 90 234 1.13e-39 SMART
low complexity region 313 329 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146479
Predicted Effect probably benign
Transcript: ENSMUST00000156747
SMART Domains Protein: ENSMUSP00000116771
Gene: ENSMUSG00000050468

DomainStartEndE-ValueType
Blast:ZnMc 31 60 6e-9 BLAST
ZnMc 69 193 4.02e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179618
SMART Domains Protein: ENSMUSP00000135987
Gene: ENSMUSG00000050468

DomainStartEndE-ValueType
Blast:ZnMc 31 60 4e-8 BLAST
ZnMc 69 213 1.13e-39 SMART
low complexity region 292 308 N/A INTRINSIC
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 member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1 and ERK2, is predominantly expressed in hematopoietic tissues, and is localized in the nucleus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced inflammatory responses in induced rheumatoid arthritis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik G A 11: 30,426,228 S213L probably benign Het
Adgrv1 A G 13: 81,466,184 I4030T possibly damaging Het
Ap4b1 G A 3: 103,812,827 R55H probably benign Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Atp6v1h T A 1: 5,089,059 M55K probably benign Het
B3galt4 A C 17: 33,951,213 V17G probably benign Het
Cd79a A T 7: 24,901,266 M172L probably benign Het
Cry1 A T 10: 85,184,362 L37H possibly damaging Het
D430042O09Rik A G 7: 125,752,971 probably null Het
D5Ertd615e A T 5: 45,169,413 noncoding transcript Het
Dnah17 A T 11: 118,119,568 L308Q probably damaging Het
Dnah7a C T 1: 53,518,782 A2158T probably benign Het
Fam110c T C 12: 31,074,983 S315P probably damaging Het
Fcer2a G A 8: 3,683,598 R198* probably null Het
Fryl G A 5: 73,054,597 T2359M probably damaging Het
Gm14221 G A 2: 160,568,383 noncoding transcript Het
Gpc6 T G 14: 117,964,830 L484R probably damaging Het
Igdcc3 G A 9: 65,180,073 V298M probably damaging Het
Impg2 T A 16: 56,225,717 probably benign Het
Iqca T A 1: 90,045,642 M803L probably benign Het
Itga4 T C 2: 79,315,970 probably benign Het
Kidins220 T C 12: 25,040,460 F1141S possibly damaging Het
Kif7 A G 7: 79,702,278 I912T probably damaging Het
Klhl38 G A 15: 58,322,458 R292W probably damaging Het
Lama3 A G 18: 12,441,131 D590G probably benign Het
Map4k4 T C 1: 40,014,229 probably benign Het
Mbd4 A T 6: 115,850,797 D39E probably damaging Het
Mrm2 A G 5: 140,331,255 V8A probably benign Het
Myod1 A T 7: 46,377,115 E148V probably damaging Het
Olfr74 A C 2: 87,974,551 I38S probably benign Het
Pdcd10 A T 3: 75,541,168 F30I possibly damaging Het
Ptcd1 T A 5: 145,159,536 H249L probably damaging Het
Ptcd3 A T 6: 71,888,577 D451E probably benign Het
Rab44 C A 17: 29,147,377 S680R unknown Het
Rad21l A T 2: 151,655,164 D340E probably benign Het
Ranbp2 T C 10: 58,478,881 F1808L possibly damaging Het
Rnf122 T C 8: 31,128,602 V126A probably damaging Het
Slc25a47 G T 12: 108,854,216 V49L probably benign Het
Slc36a2 T C 11: 55,184,807 probably null Het
Sorl1 G A 9: 42,043,956 R668W probably damaging Het
Tbx19 T A 1: 165,139,156 N383I possibly damaging Het
Tenm4 A G 7: 96,874,303 H1676R probably benign Het
Tgm5 G T 2: 121,052,808 R351S probably damaging Het
Tmem106b A G 6: 13,071,843 S34G probably benign Het
Trmo C T 4: 46,386,169 G119R probably damaging Het
Ubr4 G A 4: 139,442,829 probably benign Het
Wfdc11 A G 2: 164,665,445 probably null Het
Xrn2 T A 2: 147,038,179 I474K probably benign Het
Zfp827 A G 8: 79,070,434 K383R probably damaging Het
Other mutations in Dusp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4353:Dusp2 UTSW 2 127337336 missense probably damaging 1.00
R5973:Dusp2 UTSW 2 127337288 missense probably damaging 1.00
Posted On2013-12-03