Incidental Mutation 'R2220:Dusp3'
ID 241443
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 040222-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2220 (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 101865631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 95 (N95D)
Ref Sequence ENSEMBL: ENSMUSP00000135384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003612] [ENSMUST00000107172] [ENSMUST00000107173] [ENSMUST00000143177] [ENSMUST00000151678]
AlphaFold Q9D7X3
Predicted Effect probably damaging
Transcript: ENSMUST00000003612
AA Change: N163D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003612
Gene: ENSMUSG00000003518
AA Change: N163D

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107172
AA Change: N163D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102790
Gene: ENSMUSG00000003518
AA Change: N163D

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107173
AA Change: N188D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102791
Gene: ENSMUSG00000003518
AA Change: N188D

DomainStartEndE-ValueType
DSPc 54 201 8.04e-58 SMART
Predicted Effect unknown
Transcript: ENSMUST00000125794
AA Change: N69D
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 damaging
Transcript: ENSMUST00000151678
AA Change: N95D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135384
Gene: ENSMUSG00000003518
AA Change: N95D

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: 97.4%
  • 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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T C 4: 144,344,572 (GRCm39) I116T probably damaging Het
Aatk G T 11: 119,903,003 (GRCm39) F407L probably damaging Het
Abca8a A T 11: 109,917,681 (GRCm39) L1586Q probably damaging Het
Aox1 A G 1: 58,388,289 (GRCm39) probably null Het
Ap5m1 A G 14: 49,318,552 (GRCm39) D420G probably damaging Het
Bcl6 A T 16: 23,791,382 (GRCm39) L324* probably null Het
Bicc1 A G 10: 70,785,955 (GRCm39) S396P probably damaging Het
Bltp1 T C 3: 36,929,679 (GRCm39) probably null Het
Ccdc83 G A 7: 89,908,722 (GRCm39) S4L probably damaging Het
Cdkal1 T A 13: 29,538,741 (GRCm39) M473L probably benign Het
Cep85 T C 4: 133,881,178 (GRCm39) H363R probably damaging Het
Cfap61 G A 2: 145,878,736 (GRCm39) probably null Het
Cfap65 T C 1: 74,943,184 (GRCm39) I1614V probably damaging Het
Cluh T A 11: 74,557,947 (GRCm39) F1062I probably damaging Het
Cntnap5a A T 1: 116,508,369 (GRCm39) T1294S possibly damaging Het
Cops8 A C 1: 90,534,341 (GRCm39) N94T probably benign Het
Csmd1 T C 8: 16,042,641 (GRCm39) D2364G possibly damaging Het
Cyb5d1 T C 11: 69,285,871 (GRCm39) D55G probably benign Het
Cyp2c29 A T 19: 39,275,676 (GRCm39) I39F probably benign Het
Cyp2j8 T C 4: 96,332,862 (GRCm39) S495G probably benign Het
Dhx30 A G 9: 109,916,703 (GRCm39) L575P probably damaging Het
Dnah7a C T 1: 53,560,333 (GRCm39) V2113I probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fer1l4 T G 2: 155,873,684 (GRCm39) Y1207S probably damaging Het
Flg2 T G 3: 93,109,492 (GRCm39) S507A unknown Het
Gdf6 A G 4: 9,844,770 (GRCm39) H98R probably damaging Het
Ggnbp2 T C 11: 84,727,439 (GRCm39) N63S possibly damaging Het
Ggt7 A G 2: 155,337,639 (GRCm39) S504P probably damaging Het
Gtf2h5 G A 17: 6,134,853 (GRCm39) E48K probably benign Het
Hivep3 T G 4: 119,591,235 (GRCm39) V81G possibly damaging Het
Igsf21 A G 4: 139,755,425 (GRCm39) M410T probably damaging Het
Insrr T C 3: 87,716,725 (GRCm39) L651P probably damaging Het
Iqcb1 A T 16: 36,663,824 (GRCm39) probably null Het
Klhdc7a G A 4: 139,692,764 (GRCm39) R728C probably benign Het
Lars2 T C 9: 123,247,845 (GRCm39) L334P probably damaging Het
Mast3 T C 8: 71,233,607 (GRCm39) E994G probably damaging Het
Mertk T A 2: 128,643,392 (GRCm39) N930K probably benign Het
Mettl21a A T 1: 64,655,442 (GRCm39) V46E probably damaging Het
Nedd4 T A 9: 72,643,989 (GRCm39) C614S probably damaging Het
Or13a19 T C 7: 139,903,484 (GRCm39) S291P probably benign Het
Or2l13b A T 16: 19,348,895 (GRCm39) Y258* probably null Het
Or5k1 G T 16: 58,617,987 (GRCm39) A74D possibly damaging Het
Pard3b C T 1: 62,518,842 (GRCm39) R976* probably null Het
Pcdhb16 A G 18: 37,612,020 (GRCm39) T327A probably benign Het
Pira12 A T 7: 3,900,488 (GRCm39) N87K probably benign Het
Ppp1r37 C A 7: 19,266,371 (GRCm39) R465L probably null Het
Ppp3ca C A 3: 136,503,685 (GRCm39) T86K probably damaging Het
Ralgapa2 G A 2: 146,263,599 (GRCm39) T706I probably benign Het
Rnf213 T C 11: 119,327,254 (GRCm39) L1747P possibly damaging Het
Slc11a1 T A 1: 74,419,824 (GRCm39) F166I probably damaging Het
Slc25a18 G A 6: 120,770,518 (GRCm39) probably null Het
Stt3a A G 9: 36,660,847 (GRCm39) probably null Het
Supt16 G A 14: 52,409,601 (GRCm39) R770* probably null Het
Syde2 A G 3: 145,707,713 (GRCm39) I551V probably benign Het
Tasor2 A T 13: 3,631,872 (GRCm39) N876K probably benign Het
Tecta T C 9: 42,303,326 (GRCm39) D102G probably damaging Het
Tmc7 A T 7: 118,152,039 (GRCm39) I294N possibly damaging Het
Tmem174 T C 13: 98,773,767 (GRCm39) Y21C probably damaging Het
Tomm40l A T 1: 171,049,550 (GRCm39) L13* probably null Het
Trim30c A G 7: 104,032,474 (GRCm39) V284A probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Uggt2 A T 14: 119,312,749 (GRCm39) N353K probably damaging Het
Vps13d C T 4: 144,904,890 (GRCm39) V79M probably damaging Het
Wfdc18 C T 11: 83,600,739 (GRCm39) R45* probably null 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
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'- TCATGTGCTCCCTAAGGGTG -3'
(R):5'- TTGGGCTTCCACAGTTACC -3'

Sequencing Primer
(F):5'- ACAGATGTGGGCACGTGTC -3'
(R):5'- GGCTTCCACAGTTACCACGTC -3'
Posted On 2014-10-15