Incidental Mutation 'R6495:Dusp3'
ID 520453
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
MMRRC Submission 044627-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6495 (G1)
Quality Score 145.008
Status Validated
Chromosome 11
Chromosomal Location 101861969-101877839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101872653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 48 (I48V)
Ref Sequence ENSEMBL: ENSMUSP00000135443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003612] [ENSMUST00000107172] [ENSMUST00000107173] [ENSMUST00000143177] [ENSMUST00000151678] [ENSMUST00000175972] [ENSMUST00000176261] [ENSMUST00000176722]
AlphaFold Q9D7X3
Predicted Effect probably benign
Transcript: ENSMUST00000003612
AA Change: I48V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003612
Gene: ENSMUSG00000003518
AA Change: I48V

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107172
AA Change: I48V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102790
Gene: ENSMUSG00000003518
AA Change: I48V

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107173
AA Change: I73V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102791
Gene: ENSMUSG00000003518
AA Change: I73V

DomainStartEndE-ValueType
DSPc 54 201 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125794
Predicted Effect probably benign
Transcript: ENSMUST00000143177
SMART Domains Protein: ENSMUSP00000135821
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
PDB:1J4X|A 2 55 1e-22 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000151678
SMART Domains Protein: ENSMUSP00000135384
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 3 108 6.99e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175972
Predicted Effect probably benign
Transcript: ENSMUST00000176261
AA Change: I48V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000135443
Gene: ENSMUSG00000003518
AA Change: I48V

DomainStartEndE-ValueType
Pfam:DSPc 37 126 1.5e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176722
SMART Domains Protein: ENSMUSP00000134890
Gene: ENSMUSG00000010841

DomainStartEndE-ValueType
Pfam:KIAA1430 1 80 4.8e-22 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 T A 12: 112,740,148 (GRCm39) E502V probably damaging Het
Apbb1ip T A 2: 22,743,132 (GRCm39) Y321* probably null Het
Apob A G 12: 8,040,394 (GRCm39) K577R probably null Het
Arfgef3 A G 10: 18,486,950 (GRCm39) probably null Het
Asap3 T A 4: 135,955,790 (GRCm39) probably null Het
Atp13a5 C T 16: 29,140,440 (GRCm39) probably null Het
Bcan C A 3: 87,903,904 (GRCm39) A194S possibly damaging Het
Cacybp T C 1: 160,036,093 (GRCm39) T32A probably benign Het
Cd82 A G 2: 93,260,357 (GRCm39) V90A probably benign Het
Chd5 C T 4: 152,451,829 (GRCm39) R714C probably damaging Het
Cpb2 T C 14: 75,512,519 (GRCm39) Y311H probably damaging Het
Cyp39a1 T C 17: 44,002,585 (GRCm39) Y267H probably benign Het
Dnajc6 C T 4: 101,492,262 (GRCm39) Q766* probably null Het
Eif3c A T 7: 126,146,672 (GRCm39) F809I probably damaging Het
Exosc10 C T 4: 148,647,329 (GRCm39) P213S probably benign Het
Galns C T 8: 123,327,349 (GRCm39) G141D probably damaging Het
Gm3233 A T 10: 77,594,886 (GRCm39) probably benign Het
Hadha A T 5: 30,325,048 (GRCm39) L714H probably benign Het
Map3k20 T C 2: 72,198,763 (GRCm39) M123T probably damaging Het
Nt5dc1 A G 10: 34,200,365 (GRCm39) L217P probably damaging Het
Nubp2 A T 17: 25,104,577 (GRCm39) D54E probably damaging Het
Onecut1 C T 9: 74,770,497 (GRCm39) R307C probably damaging Het
Or5b116 T A 19: 13,422,989 (GRCm39) D204E probably benign Het
Pcdhb17 A G 18: 37,618,720 (GRCm39) Y170C probably damaging Het
Pkd2 T A 5: 104,637,159 (GRCm39) C591S probably damaging Het
Pramel15 T C 4: 144,103,409 (GRCm39) N239S probably benign Het
Pwp2 A T 10: 78,012,961 (GRCm39) V549E probably damaging Het
Rapsn A T 2: 90,866,973 (GRCm39) S92C probably damaging Het
Rbm19 A G 5: 120,257,745 (GRCm39) S90G probably damaging Het
Rfc1 G A 5: 65,431,158 (GRCm39) probably null Het
Rims2 T A 15: 39,381,208 (GRCm39) F1046L probably benign Het
S100a16 C T 3: 90,449,735 (GRCm39) R73C probably benign Het
Shroom3 T C 5: 93,089,928 (GRCm39) Y893H possibly damaging Het
Stt3b T A 9: 115,096,388 (GRCm39) Y253F possibly damaging Het
Taar8b A G 10: 23,967,160 (GRCm39) *345Q probably null Het
Tas2r119 G A 15: 32,177,676 (GRCm39) V81I probably benign Het
Tas2r129 A G 6: 132,928,128 (GRCm39) I22V probably benign Het
Tbc1d19 T G 5: 54,046,555 (GRCm39) probably null Het
Tnip3 A T 6: 65,582,846 (GRCm39) I218F probably benign Het
Tnks A T 8: 35,307,120 (GRCm39) probably null Het
Ttc29 T C 8: 79,008,963 (GRCm39) Y278H possibly damaging Het
Tut7 T C 13: 59,947,753 (GRCm39) E454G possibly damaging Het
Uba7 T A 9: 107,854,213 (GRCm39) C214* probably null Het
Vmn2r115 A T 17: 23,578,572 (GRCm39) I682F probably benign Het
Vmn2r75 A T 7: 85,813,287 (GRCm39) M505K probably benign Het
Wdr19 A T 5: 65,415,466 (GRCm39) T1313S probably benign Het
Zbtb22 A G 17: 34,136,224 (GRCm39) D123G probably damaging Het
Zdhhc7 A G 8: 120,813,395 (GRCm39) I138T probably benign Het
Zfp706 T C 15: 37,004,045 (GRCm39) K7R unknown Het
Zkscan3 G A 13: 21,572,075 (GRCm39) P519L probably damaging 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
R2762:Dusp3 UTSW 11 101,865,661 (GRCm39) missense probably benign 0.00
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
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'- CAATGAAATCTGTGGCCCTTTC -3'
(R):5'- CGTGGGACCACAAGTCTATTTG -3'

Sequencing Primer
(F):5'- GTGGCCCTTTCAAAGTAAGC -3'
(R):5'- AGCTGCCGGTAACCGTATATG -3'
Posted On 2018-06-06