Incidental Mutation 'R2260:Dusp12'
ID 243698
Institutional Source Beutler Lab
Gene Symbol Dusp12
Ensembl Gene ENSMUSG00000026659
Gene Name dual specificity phosphatase 12
Synonyms T-DSP4, LMW-DSP4, VH1, 1190004O14Rik, ESTM36, mVH1
MMRRC Submission 040260-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2260 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 170701756-170713109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 170708580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 120 (R120H)
Ref Sequence ENSEMBL: ENSMUSP00000044320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027970] [ENSMUST00000046476] [ENSMUST00000163252] [ENSMUST00000170420] [ENSMUST00000180542] [ENSMUST00000172042]
AlphaFold Q9D0T2
Predicted Effect probably damaging
Transcript: ENSMUST00000027970
AA Change: R120H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027970
Gene: ENSMUSG00000026659
AA Change: R120H

DomainStartEndE-ValueType
DSPc 26 167 1.23e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000046476
AA Change: R120H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044320
Gene: ENSMUSG00000026659
AA Change: R120H

DomainStartEndE-ValueType
DSPc 26 157 5.96e-20 SMART
Predicted Effect silent
Transcript: ENSMUST00000163252
SMART Domains Protein: ENSMUSP00000126676
Gene: ENSMUSG00000026659

DomainStartEndE-ValueType
Pfam:DSPc 30 115 2e-8 PFAM
Predicted Effect silent
Transcript: ENSMUST00000166393
SMART Domains Protein: ENSMUSP00000130507
Gene: ENSMUSG00000026659

DomainStartEndE-ValueType
Pfam:DSPc 31 121 8.5e-9 PFAM
Predicted Effect silent
Transcript: ENSMUST00000170420
SMART Domains Protein: ENSMUSP00000129515
Gene: ENSMUSG00000026659

DomainStartEndE-ValueType
PTPc_DSPc 26 136 4e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000171447
AA Change: R50H
SMART Domains Protein: ENSMUSP00000130683
Gene: ENSMUSG00000026659
AA Change: R50H

DomainStartEndE-ValueType
Pfam:DSPc 3 98 6.9e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171747
Predicted Effect probably benign
Transcript: ENSMUST00000180542
Predicted Effect probably benign
Transcript: ENSMUST00000172042
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.7%
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 is 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 is the human ortholog of the Saccharomyces cerevisiae YVH1 protein tyrosine phosphatase. It is localized predominantly in the nucleus, and is novel in that it contains, and is regulated by a zinc finger domain. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,354,978 (GRCm39) N1252I probably damaging Het
Acot5 A T 12: 84,122,643 (GRCm39) H409L possibly damaging Het
Adgrv1 A T 13: 81,716,493 (GRCm39) V840E probably damaging Het
Adnp2 A T 18: 80,171,664 (GRCm39) M915K probably benign Het
Cd101 G C 3: 100,924,261 (GRCm39) L393V possibly damaging Het
Cd177 A G 7: 24,455,661 (GRCm39) V287A possibly damaging Het
Cdc37l1 A T 19: 28,984,448 (GRCm39) K194N probably benign Het
Cep126 T C 9: 8,101,749 (GRCm39) T262A possibly damaging Het
Chit1 A G 1: 134,078,865 (GRCm39) S392G probably benign Het
Col11a2 A G 17: 34,258,651 (GRCm39) H8R probably benign Het
Eln C A 5: 134,758,508 (GRCm39) A126S unknown Het
Entpd2 C T 2: 25,288,099 (GRCm39) P108S probably damaging Het
Fkbp6 C T 5: 135,366,468 (GRCm39) probably null Het
Ftcd T A 10: 76,423,893 (GRCm39) probably null Het
Gdf10 T C 14: 33,654,234 (GRCm39) L247P probably damaging Het
Gigyf1 C A 5: 137,518,594 (GRCm39) A215E possibly damaging Het
Gja4 C A 4: 127,206,623 (GRCm39) D47Y probably damaging Het
Gsn G A 2: 35,180,349 (GRCm39) G130E probably damaging Het
Hrc C A 7: 44,986,105 (GRCm39) R419S possibly damaging Het
Itfg1 C T 8: 86,449,306 (GRCm39) C576Y probably damaging Het
Lama1 G T 17: 68,044,502 (GRCm39) A134S probably damaging Het
Larp4 T G 15: 99,895,277 (GRCm39) F283L possibly damaging Het
Marveld2 A G 13: 100,748,978 (GRCm39) S34P probably benign Het
Mettl18 T A 1: 163,824,394 (GRCm39) D238E probably benign Het
Mfn1 G T 3: 32,617,575 (GRCm39) E74* probably null Het
Mfn2 C A 4: 147,979,063 (GRCm39) E90* probably null Het
Mill2 T A 7: 18,590,413 (GRCm39) D164E probably benign Het
Ncapd3 A G 9: 26,967,368 (GRCm39) D568G probably benign Het
Nt5c1b A T 12: 10,424,965 (GRCm39) R170S probably damaging Het
Or10ak11 T C 4: 118,687,359 (GRCm39) I93V probably damaging Het
Or4c100 G A 2: 88,356,730 (GRCm39) V268I possibly damaging Het
Or5bw2 A T 7: 6,573,022 (GRCm39) I11F probably damaging Het
Or8d1b T C 9: 38,887,296 (GRCm39) V108A probably benign Het
Pald1 G A 10: 61,188,750 (GRCm39) R87W probably damaging Het
Paox T A 7: 139,713,967 (GRCm39) Y242* probably null Het
Pde2a A T 7: 101,133,774 (GRCm39) D85V probably damaging Het
Pitrm1 C T 13: 6,610,161 (GRCm39) T411I probably damaging Het
Pkd1l3 A G 8: 110,350,268 (GRCm39) Q371R probably benign Het
Plaat5 C T 19: 7,590,111 (GRCm39) R46C probably damaging Het
Ptprk A G 10: 28,082,145 (GRCm39) D38G possibly damaging Het
Rag2 G A 2: 101,460,583 (GRCm39) E298K probably benign Het
Rbm12b2 G A 4: 12,095,061 (GRCm39) R640H probably benign Het
Rcsd1 C T 1: 165,486,998 (GRCm39) A72T probably benign Het
Rims2 G T 15: 39,341,962 (GRCm39) E604* probably null Het
Rin2 A G 2: 145,720,824 (GRCm39) D719G probably damaging Het
Sash1 G A 10: 8,662,142 (GRCm39) Q155* probably null Het
Tacr1 A T 6: 82,380,756 (GRCm39) I56F probably damaging Het
Tbc1d4 G A 14: 101,731,847 (GRCm39) T455M probably damaging Het
Tex24 C T 8: 27,834,883 (GRCm39) T137I probably damaging Het
Tmem200a A C 10: 25,869,313 (GRCm39) S319A probably benign Het
Tmem242 G T 17: 5,483,745 (GRCm39) A99E probably damaging Het
Tmem30a C T 9: 79,681,446 (GRCm39) R277H probably benign Het
Tmprss11f G A 5: 86,739,269 (GRCm39) A4V probably benign Het
Triobp T G 15: 78,875,640 (GRCm39) probably null Het
Tshz2 A T 2: 169,728,326 (GRCm39) Q505L probably benign Het
Ttyh1 T C 7: 4,131,183 (GRCm39) V218A probably damaging Het
Vmn2r11 A T 5: 109,201,657 (GRCm39) Y282* probably null Het
Vps13c A G 9: 67,861,142 (GRCm39) N2891S probably benign Het
Xpo5 C T 17: 46,551,822 (GRCm39) Q1050* probably null Het
Other mutations in Dusp12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:Dusp12 APN 1 170,702,042 (GRCm39) missense probably damaging 1.00
IGL02718:Dusp12 APN 1 170,708,226 (GRCm39) missense probably damaging 1.00
P0028:Dusp12 UTSW 1 170,707,386 (GRCm39) nonsense probably null
R0040:Dusp12 UTSW 1 170,708,226 (GRCm39) missense probably damaging 1.00
R0040:Dusp12 UTSW 1 170,708,226 (GRCm39) missense probably damaging 1.00
R1114:Dusp12 UTSW 1 170,708,586 (GRCm39) missense probably damaging 1.00
R1833:Dusp12 UTSW 1 170,702,022 (GRCm39) missense probably benign
R1850:Dusp12 UTSW 1 170,708,198 (GRCm39) missense probably benign 0.12
R2138:Dusp12 UTSW 1 170,708,166 (GRCm39) nonsense probably null
R3972:Dusp12 UTSW 1 170,707,344 (GRCm39) missense probably damaging 0.98
R4298:Dusp12 UTSW 1 170,708,198 (GRCm39) missense probably benign 0.12
R4803:Dusp12 UTSW 1 170,708,175 (GRCm39) missense possibly damaging 0.51
R6639:Dusp12 UTSW 1 170,708,243 (GRCm39) missense probably damaging 1.00
R6674:Dusp12 UTSW 1 170,707,317 (GRCm39) missense probably benign 0.13
R6981:Dusp12 UTSW 1 170,708,530 (GRCm39) missense probably damaging 1.00
R7432:Dusp12 UTSW 1 170,707,345 (GRCm39) nonsense probably null
R7861:Dusp12 UTSW 1 170,702,095 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTTGGCCAATGGAAGTGCAGG -3'
(R):5'- ACTTTACCATTAGCAGGCAGC -3'

Sequencing Primer
(F):5'- GTGCAGGGACACACACC -3'
(R):5'- GTCACTCTGGACTCACTGTGTAGAC -3'
Posted On 2014-10-16