Incidental Mutation 'R0751:Dusp3'
ID 70345
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 038931-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0751 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 101861969-101877839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101872554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 106 (S106T)
Ref Sequence ENSEMBL: ENSMUSP00000102791 (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: S81T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000003612
Gene: ENSMUSG00000003518
AA Change: S81T

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107172
AA Change: S81T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102790
Gene: ENSMUSG00000003518
AA Change: S81T

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107173
AA Change: S106T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102791
Gene: ENSMUSG00000003518
AA Change: S106T

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
AA Change: S13T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135384
Gene: ENSMUSG00000003518
AA Change: S13T

DomainStartEndE-ValueType
DSPc 3 108 6.99e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175972
Predicted Effect probably benign
Transcript: ENSMUST00000176261
AA Change: S81T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135443
Gene: ENSMUSG00000003518
AA Change: S81T

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
Meta Mutation Damage Score 0.0853 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.4%
Validation Efficiency 99% (73/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 T A 4: 132,792,707 (GRCm39) M1316K probably benign Het
Alox12 T C 11: 70,137,776 (GRCm39) I455V probably benign Het
Ankrd28 A G 14: 31,486,225 (GRCm39) L89P probably damaging Het
Aqp9 A T 9: 71,045,487 (GRCm39) C41S probably damaging Het
Arhgap17 T C 7: 122,913,913 (GRCm39) Y199C probably damaging Het
Aspm A T 1: 139,384,636 (GRCm39) probably benign Het
Cacfd1 T C 2: 26,908,993 (GRCm39) probably null Het
Cd33 T C 7: 43,181,545 (GRCm39) D205G probably damaging Het
Chadl T C 15: 81,577,258 (GRCm39) S198G probably benign Het
Chtf8 A G 8: 107,613,109 (GRCm39) probably null Het
Clec4a4 G T 6: 122,989,671 (GRCm39) W104L probably benign Het
Clock A T 5: 76,377,208 (GRCm39) I696K possibly damaging Het
Crtc2 T A 3: 90,169,940 (GRCm39) Y445* probably null Het
Dapk1 A T 13: 60,844,112 (GRCm39) I44F probably damaging Het
Dcbld2 T A 16: 58,270,204 (GRCm39) probably null Het
Derl2 T C 11: 70,905,373 (GRCm39) probably null Het
Dnah7c A G 1: 46,505,065 (GRCm39) T154A probably benign Het
Dnmt3b T A 2: 153,516,762 (GRCm39) probably null Het
Eftud2 A G 11: 102,730,079 (GRCm39) V897A probably damaging Het
Eif3l T A 15: 78,959,966 (GRCm39) probably null Het
Fbxo33 A C 12: 59,265,878 (GRCm39) F130V probably damaging Het
Ffar3 T A 7: 30,554,529 (GRCm39) N264Y probably damaging Het
Fig4 T C 10: 41,148,978 (GRCm39) D158G probably damaging Het
Fyco1 A G 9: 123,648,218 (GRCm39) F1239L probably damaging Het
Gabra2 A G 5: 71,249,442 (GRCm39) probably benign Het
Gabra6 C A 11: 42,205,844 (GRCm39) R336S probably benign Het
Hkdc1 T C 10: 62,234,452 (GRCm39) D581G probably damaging Het
Ift70a2 C T 2: 75,808,375 (GRCm39) A46T probably damaging Het
Iqgap1 A G 7: 80,375,321 (GRCm39) probably benign Het
Larp4b T C 13: 9,216,345 (GRCm39) probably benign Het
Lcp1 A T 14: 75,436,827 (GRCm39) M58L probably benign Het
Lrrc8a T C 2: 30,146,362 (GRCm39) V392A possibly damaging Het
Mavs A T 2: 131,088,684 (GRCm39) Y496F probably damaging Het
Mpi A T 9: 57,457,897 (GRCm39) S102T probably damaging Het
Mroh9 G A 1: 162,893,693 (GRCm39) R161W possibly damaging Het
Myo1h A T 5: 114,458,747 (GRCm39) S161C probably damaging Het
Napg T G 18: 63,127,409 (GRCm39) H204Q probably benign Het
Nelfcd C A 2: 174,264,807 (GRCm39) A182D probably benign Het
Ntsr2 G T 12: 16,704,031 (GRCm39) K91N probably damaging Het
Obscn A G 11: 58,972,645 (GRCm39) S2134P probably damaging Het
Ogfod2 G A 5: 124,251,539 (GRCm39) probably benign Het
Or13a19 G A 7: 139,903,238 (GRCm39) V209I probably benign Het
Or1e26 G T 11: 73,479,970 (GRCm39) T198K probably benign Het
Pcdha8 T C 18: 37,127,123 (GRCm39) V535A probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pik3r1 T C 13: 101,822,866 (GRCm39) probably null Het
Pimreg C A 11: 71,933,939 (GRCm39) Q22K probably benign Het
Pld5 A G 1: 175,872,462 (GRCm39) I225T probably damaging Het
Plxnc1 T C 10: 94,667,195 (GRCm39) probably benign Het
Ppip5k2 A T 1: 97,677,377 (GRCm39) C306* probably null Het
Ptprc A G 1: 138,020,668 (GRCm39) Y588H probably damaging Het
Rac2 T G 15: 78,450,145 (GRCm39) D65A possibly damaging Het
Rgl3 A G 9: 21,888,676 (GRCm39) probably null Het
Serpinb1a T C 13: 33,027,199 (GRCm39) K248E probably benign Het
Serpinb9e A C 13: 33,443,757 (GRCm39) E259A probably benign Het
Slc12a4 A T 8: 106,678,532 (GRCm39) V266E probably damaging Het
Slc8b1 A G 5: 120,662,260 (GRCm39) probably benign Het
Spink6 T C 18: 44,204,605 (GRCm39) probably benign Het
Spta1 G A 1: 174,012,256 (GRCm39) R354H probably damaging Het
Ssb T A 2: 69,700,909 (GRCm39) S330T probably benign Het
Stard9 G T 2: 120,527,966 (GRCm39) V1408F probably benign Het
Sumf2 A T 5: 129,878,846 (GRCm39) T61S probably benign Het
Sypl2 T C 3: 108,124,072 (GRCm39) T157A probably damaging Het
Tgfbr3 A T 5: 107,287,749 (GRCm39) D483E probably damaging Het
Tnrc6a A G 7: 122,769,563 (GRCm39) N451S possibly damaging Het
Tradd T C 8: 105,986,403 (GRCm39) E123G probably damaging Het
Trim36 T C 18: 46,329,318 (GRCm39) T41A probably damaging Het
Ttll7 C T 3: 146,645,746 (GRCm39) P535S probably damaging Het
Ubr4 C T 4: 139,164,509 (GRCm39) probably benign Het
Uqcc5 G T 14: 30,810,953 (GRCm39) probably benign Het
Vmn1r195 A G 13: 22,463,181 (GRCm39) Y217C probably damaging Het
Vmn2r63 A C 7: 42,577,459 (GRCm39) F360V probably damaging Het
Vmn2r78 G A 7: 86,603,588 (GRCm39) V589M possibly damaging Het
Vmn2r-ps158 A G 7: 42,696,833 (GRCm39) Y630C probably damaging Het
Vrk2 A G 11: 26,433,331 (GRCm39) probably benign 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
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
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'- GGGAAAGGAGCACAGCTACCTAACTC -3'
(R):5'- ACAAGTCTATTTGGGGAAGCTGCC -3'

Sequencing Primer
(F):5'- atgcagtggcccccatc -3'
(R):5'- CCTTATTGCCAAGAGGCTCG -3'
Posted On 2013-09-30