Incidental Mutation 'R7398:Dusp6'
ID 573977
Institutional Source Beutler Lab
Gene Symbol Dusp6
Ensembl Gene ENSMUSG00000019960
Gene Name dual specificity phosphatase 6
Synonyms 1300019I03Rik, MKP-3, PYST1, MKP3
MMRRC Submission 045480-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.423) question?
Stock # R7398 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 99099093-99103351 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99100740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 245 (N245K)
Ref Sequence ENSEMBL: ENSMUSP00000020118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020118] [ENSMUST00000220291]
AlphaFold Q9DBB1
Predicted Effect probably damaging
Transcript: ENSMUST00000020118
AA Change: N245K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020118
Gene: ENSMUSG00000019960
AA Change: N245K

DomainStartEndE-ValueType
RHOD 20 145 3.06e-13 SMART
low complexity region 151 187 N/A INTRINSIC
DSPc 206 346 5.51e-65 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220291
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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 product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous or heterozygous for a null mutation display partial penetrance of postnatal lethality, reduced body weight, and abnormal growth plate morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 T A 2: 31,680,811 (GRCm39) S368T probably damaging Het
Acmsd A G 1: 127,657,172 (GRCm39) probably benign Het
Arid3b A T 9: 57,703,495 (GRCm39) S445T probably benign Het
Brinp1 A G 4: 68,759,591 (GRCm39) V91A probably benign Het
Ccne1 A G 7: 37,805,702 (GRCm39) probably null Het
Col3a1 A T 1: 45,366,973 (GRCm39) I249F unknown Het
Crybg3 T C 16: 59,377,688 (GRCm39) I1189V probably benign Het
Cyp2d34 A T 15: 82,500,964 (GRCm39) D389E probably benign Het
D130043K22Rik A C 13: 25,077,360 (GRCm39) I998L probably damaging Het
Dgkq A G 5: 108,803,056 (GRCm39) I298T possibly damaging Het
Dnah17 T C 11: 117,971,550 (GRCm39) E2161G probably damaging Het
Dnajc25 T C 4: 59,017,824 (GRCm39) probably null Het
Dpp9 G A 17: 56,496,405 (GRCm39) R768* probably null Het
Eea1 C A 10: 95,831,493 (GRCm39) H195N probably benign Het
Efhc1 A G 1: 21,059,744 (GRCm39) E598G probably benign Het
Epb41l1 T C 2: 156,376,682 (GRCm39) V809A probably damaging Het
Gas8 T A 8: 124,245,690 (GRCm39) M1K probably null Het
Gcm1 G A 9: 77,971,961 (GRCm39) V301I probably benign Het
Gm11554 T A 11: 99,695,085 (GRCm39) S43C unknown Het
Gm7298 A G 6: 121,758,912 (GRCm39) I1177V probably benign Het
Gm8011 A G 14: 42,285,918 (GRCm39) T27A Het
Hmcn1 A G 1: 150,522,421 (GRCm39) I3493T probably benign Het
Insrr T G 3: 87,716,039 (GRCm39) I578S probably damaging Het
Kif13b A G 14: 64,994,972 (GRCm39) D908G probably null Het
Lhcgr G C 17: 89,079,474 (GRCm39) Q71E probably benign Het
Lrrc34 T C 3: 30,697,491 (GRCm39) D80G probably damaging Het
Lrrc7 C A 3: 157,997,595 (GRCm39) E156* probably null Het
Lrrc9 A G 12: 72,547,590 (GRCm39) D1255G probably damaging Het
Mcidas A G 13: 113,133,416 (GRCm39) N116D probably benign Het
Mmp7 A G 9: 7,697,594 (GRCm39) N210D probably damaging Het
Morc3 A G 16: 93,671,748 (GRCm39) D926G probably damaging Het
Mrgpra9 A G 7: 46,885,385 (GRCm39) I94T possibly damaging Het
Muc16 C A 9: 18,549,038 (GRCm39) V5752F possibly damaging Het
Myo16 A T 8: 10,612,183 (GRCm39) D1276V unknown Het
Nlrc4 T G 17: 74,753,537 (GRCm39) E282A probably damaging Het
Nos2 T A 11: 78,827,297 (GRCm39) Y227* probably null Het
Obox5 A C 7: 15,492,713 (GRCm39) M223L probably benign Het
Or10ak13 C A 4: 118,638,896 (GRCm39) L295F possibly damaging Het
Pygm G A 19: 6,435,966 (GRCm39) R139H probably damaging Het
Ranbp2 C A 10: 58,303,099 (GRCm39) P789T probably damaging Het
Riok2 T G 17: 17,607,501 (GRCm39) S350A probably benign Het
Rnf214 C T 9: 45,778,845 (GRCm39) V445I possibly damaging Het
Skida1 C T 2: 18,051,083 (GRCm39) V603I unknown Het
Skint6 T A 4: 112,755,335 (GRCm39) R747S probably benign Het
Slc24a5 G A 2: 124,927,694 (GRCm39) W331* probably null Het
Slc5a10 A T 11: 61,564,405 (GRCm39) C525S probably benign Het
Styxl2 A G 1: 165,928,044 (GRCm39) S523P probably damaging Het
Sult2b1 T C 7: 45,380,718 (GRCm39) Y288C probably damaging Het
Tagln3 G T 16: 45,543,440 (GRCm39) N67K probably damaging Het
Trav21-dv12 A T 14: 54,114,162 (GRCm39) H94L probably benign Het
Tshz2 A G 2: 169,726,094 (GRCm39) E230G probably damaging Het
Usb1 T A 8: 96,071,931 (GRCm39) H210Q probably damaging Het
Vill C T 9: 118,899,716 (GRCm39) P767L probably benign Het
Vmn2r94 A T 17: 18,477,603 (GRCm39) N269K probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Dusp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02272:Dusp6 APN 10 99,101,881 (GRCm39) missense probably damaging 1.00
IGL02687:Dusp6 APN 10 99,102,044 (GRCm39) missense probably damaging 0.97
IGL02996:Dusp6 APN 10 99,100,628 (GRCm39) missense possibly damaging 0.52
IGL03024:Dusp6 APN 10 99,102,156 (GRCm39) missense probably damaging 0.97
R1134:Dusp6 UTSW 10 99,100,816 (GRCm39) missense probably damaging 0.98
R1695:Dusp6 UTSW 10 99,099,555 (GRCm39) start codon destroyed probably null 0.99
R2078:Dusp6 UTSW 10 99,099,686 (GRCm39) missense probably damaging 1.00
R2899:Dusp6 UTSW 10 99,099,707 (GRCm39) missense probably damaging 1.00
R3162:Dusp6 UTSW 10 99,099,944 (GRCm39) missense probably damaging 1.00
R3162:Dusp6 UTSW 10 99,099,944 (GRCm39) missense probably damaging 1.00
R4413:Dusp6 UTSW 10 99,099,786 (GRCm39) missense probably damaging 1.00
R4501:Dusp6 UTSW 10 99,100,457 (GRCm39) missense probably benign 0.41
R5175:Dusp6 UTSW 10 99,099,864 (GRCm39) missense possibly damaging 0.91
R5381:Dusp6 UTSW 10 99,102,129 (GRCm39) missense possibly damaging 0.46
R5560:Dusp6 UTSW 10 99,102,103 (GRCm39) missense probably damaging 0.97
R5820:Dusp6 UTSW 10 99,099,864 (GRCm39) missense possibly damaging 0.91
R7359:Dusp6 UTSW 10 99,099,927 (GRCm39) missense probably benign 0.01
R8075:Dusp6 UTSW 10 99,100,810 (GRCm39) missense possibly damaging 0.63
R8491:Dusp6 UTSW 10 99,102,081 (GRCm39) missense possibly damaging 0.66
R8826:Dusp6 UTSW 10 99,099,469 (GRCm39) start gained probably benign
R9084:Dusp6 UTSW 10 99,099,692 (GRCm39) missense probably benign 0.13
R9125:Dusp6 UTSW 10 99,102,074 (GRCm39) nonsense probably null
R9389:Dusp6 UTSW 10 99,099,839 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ACTCTTCCTCGGACATTGAGTC -3'
(R):5'- AGACAGTAGAAGACCTGCAGTC -3'

Sequencing Primer
(F):5'- ATTGAGTCTGACCTTGACCGAGAC -3'
(R):5'- GCAGTCCAGCAAAACAGCCTG -3'
Posted On 2019-09-13