Incidental Mutation 'R2762:Dusp3'
ID 254111
Institutional Source Beutler Lab
Gene Symbol Dusp3
Ensembl Gene ENSMUSG00000003518
Gene Name dual specificity phosphatase 3 (vaccinia virus phosphatase VH1-related)
Synonyms 2210015O03Rik, 5031436O03Rik, VHR, T-DSP11
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2762 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 101861969-101877839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101865661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 178 (T178A)
Ref Sequence ENSEMBL: ENSMUSP00000102791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003612] [ENSMUST00000107172] [ENSMUST00000107173] [ENSMUST00000143177] [ENSMUST00000151678]
AlphaFold Q9D7X3
Predicted Effect probably benign
Transcript: ENSMUST00000003612
AA Change: T153A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003612
Gene: ENSMUSG00000003518
AA Change: T153A

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107172
AA Change: T153A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102790
Gene: ENSMUSG00000003518
AA Change: T153A

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107173
AA Change: T178A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102791
Gene: ENSMUSG00000003518
AA Change: T178A

DomainStartEndE-ValueType
DSPc 54 201 8.04e-58 SMART
Predicted Effect unknown
Transcript: ENSMUST00000125794
AA Change: T59A
Predicted Effect unknown
Transcript: ENSMUST00000143177
AA Change: Y77C
SMART Domains Protein: ENSMUSP00000135821
Gene: ENSMUSG00000003518
AA Change: Y77C

DomainStartEndE-ValueType
PDB:1J4X|A 2 55 1e-22 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000151678
AA Change: T85A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135384
Gene: ENSMUSG00000003518
AA Change: T85A

DomainStartEndE-ValueType
DSPc 3 108 6.99e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176599
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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 maps in a region that contains the BRCA1 locus which confers susceptibility to breast and ovarian cancer. Although DUSP3 is expressed in both breast and ovarian tissues, mutation screening in breast cancer pedigrees and in sporadic tumors was negative, leading to the conclusion that this gene is not BRCA1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased hemoglobin content and angiogenesis in Matrigel plugs and aortic explants. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 T A 12: 112,748,984 (GRCm39) T288S probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Baiap3 A G 17: 25,463,549 (GRCm39) L909P probably damaging Het
Bicd1 C T 6: 149,421,901 (GRCm39) A874V probably damaging Het
En2 T C 5: 28,375,419 (GRCm39) S321P probably damaging Het
Ext1 G A 15: 53,208,323 (GRCm39) S146L probably benign Het
Gm9923 C A 10: 72,145,460 (GRCm39) H104N probably benign Het
Igtp A G 11: 58,096,891 (GRCm39) M21V possibly damaging Het
Irs2 T C 8: 11,056,408 (GRCm39) S675G probably damaging Het
Klhl36 T A 8: 120,596,713 (GRCm39) L138Q probably damaging Het
Kmt2d T C 15: 98,749,936 (GRCm39) probably benign Het
Nox3 A G 17: 3,746,433 (GRCm39) V35A probably benign Het
Osbpl1a T C 18: 12,899,956 (GRCm39) D274G possibly damaging Het
Plec C T 15: 76,056,486 (GRCm39) G4349S probably damaging Het
Ppip5k2 A C 1: 97,645,234 (GRCm39) S1073R probably damaging Het
Prkcq A G 2: 11,237,451 (GRCm39) K77E possibly damaging Het
Prss1 T C 6: 41,440,215 (GRCm39) V184A possibly damaging Het
Rnf111 T A 9: 70,383,327 (GRCm39) H202L possibly damaging Het
S100pbp G A 4: 129,049,219 (GRCm39) R308* probably null Het
Sgcb A T 5: 73,793,052 (GRCm39) probably null Het
Spam1 T C 6: 24,796,642 (GRCm39) F198L possibly damaging Het
Tbc1d4 A C 14: 101,731,797 (GRCm39) C472G probably damaging Het
Tonsl T C 15: 76,514,820 (GRCm39) N1128S probably damaging Het
Ttn C T 2: 76,628,447 (GRCm39) R14571Q probably damaging Het
Tubb4a T A 17: 57,387,974 (GRCm39) T351S probably benign Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Wasl T C 6: 24,619,500 (GRCm39) Y340C unknown Het
Other mutations in Dusp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Dusp3 APN 11 101,875,470 (GRCm39) missense probably benign 0.37
R0189:Dusp3 UTSW 11 101,872,547 (GRCm39) missense probably damaging 1.00
R0751:Dusp3 UTSW 11 101,872,554 (GRCm39) missense probably benign 0.00
R1771:Dusp3 UTSW 11 101,875,561 (GRCm39) start codon destroyed probably null 0.95
R2220:Dusp3 UTSW 11 101,865,631 (GRCm39) missense probably damaging 1.00
R4591:Dusp3 UTSW 11 101,864,446 (GRCm39) utr 3 prime probably benign
R5373:Dusp3 UTSW 11 101,875,451 (GRCm39) missense possibly damaging 0.69
R5374:Dusp3 UTSW 11 101,875,451 (GRCm39) missense possibly damaging 0.69
R6119:Dusp3 UTSW 11 101,871,495 (GRCm39) unclassified probably benign
R6318:Dusp3 UTSW 11 101,877,697 (GRCm39) missense probably benign 0.32
R6495:Dusp3 UTSW 11 101,872,653 (GRCm39) missense probably benign 0.00
R8785:Dusp3 UTSW 11 101,872,560 (GRCm39) missense probably benign 0.00
R9550:Dusp3 UTSW 11 101,872,668 (GRCm39) missense probably benign 0.01
X0020:Dusp3 UTSW 11 101,865,604 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- GTGGGTATACTGTGTTTCCTAAAC -3'
(R):5'- AGAACCTCTTGACACCCTGC -3'

Sequencing Primer
(F):5'- GTTTCCTAAACATGGCTGCCAGG -3'
(R):5'- CTGTCCCTGGTCATTCTGGG -3'
Posted On 2014-12-04