Incidental Mutation 'IGL02949:Dpys'
ID364870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpys
Ensembl Gene ENSMUSG00000022304
Gene Namedihydropyrimidinase
Synonyms1300004I01Rik, DHPase, 1200017I10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL02949
Quality Score
Status
Chromosome15
Chromosomal Location39768487-39857470 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 39826883 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 358 (V358A)
Ref Sequence ENSEMBL: ENSMUSP00000105935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022915] [ENSMUST00000110306]
Predicted Effect probably damaging
Transcript: ENSMUST00000022915
AA Change: V358A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022915
Gene: ENSMUSG00000022304
AA Change: V358A

DomainStartEndE-ValueType
Pfam:Amidohydro_1 58 447 1.2e-39 PFAM
Pfam:Amidohydro_3 310 448 6.4e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110306
AA Change: V358A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105935
Gene: ENSMUSG00000022304
AA Change: V358A

DomainStartEndE-ValueType
Pfam:Amidohydro_5 25 98 8.3e-14 PFAM
Pfam:Amidohydro_4 53 404 4e-22 PFAM
Pfam:Amidohydro_1 58 407 1e-26 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,617,920 V89I probably damaging Het
Abhd5 T C 9: 122,377,915 F89L possibly damaging Het
Akr1c13 T A 13: 4,198,594 V266E probably damaging Het
B4galt2 C T 4: 117,881,405 A72T probably benign Het
Ccdc141 T C 2: 77,027,594 Y1081C probably damaging Het
Coq8b T C 7: 27,256,613 V405A possibly damaging Het
Ddah2 A G 17: 35,061,800 K251E probably damaging Het
Dnah5 T C 15: 28,272,185 V1045A probably benign Het
Dpy19l1 A T 9: 24,421,180 M662K probably benign Het
H2-D1 A G 17: 35,264,088 N198S probably benign Het
Hnrnpa1 T C 15: 103,242,111 V163A probably damaging Het
Hr C T 14: 70,559,785 R543C possibly damaging Het
Lct C T 1: 128,313,132 V245M probably benign Het
Lpl G A 8: 68,892,748 V135M probably damaging Het
Mblac1 T A 5: 138,194,857 C154S probably benign Het
Mmp9 T C 2: 164,951,119 F396S probably damaging Het
Mroh1 A T 15: 76,408,968 H314L probably damaging Het
Msantd4 T A 9: 4,385,196 L307Q probably damaging Het
Nol8 A G 13: 49,662,402 D662G probably benign Het
Nynrin G A 14: 55,872,380 S1648N probably damaging Het
Olfr243 A G 7: 103,717,220 I209V probably benign Het
Plcb2 C T 2: 118,719,109 probably null Het
Scyl2 T A 10: 89,660,301 N229I possibly damaging Het
Spryd3 C T 15: 102,118,109 E376K probably benign Het
Srr T G 11: 74,908,737 E304A probably benign Het
Srsf1 A G 11: 88,049,526 probably benign Het
Txnrd2 T G 16: 18,477,706 S473A probably benign Het
Wdr18 T A 10: 79,965,055 C151S probably benign Het
Zfp282 C T 6: 47,897,914 T351I probably damaging Het
Other mutations in Dpys
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Dpys APN 15 39846649 missense probably damaging 1.00
IGL01408:Dpys APN 15 39793306 missense possibly damaging 0.74
IGL02372:Dpys APN 15 39793271 missense probably benign 0.17
IGL03357:Dpys APN 15 39824216 missense probably damaging 1.00
IGL02837:Dpys UTSW 15 39857305 missense probably damaging 1.00
PIT4468001:Dpys UTSW 15 39857205 missense probably damaging 0.96
R0315:Dpys UTSW 15 39857338 missense probably benign 0.01
R1252:Dpys UTSW 15 39824240 missense probably damaging 1.00
R2314:Dpys UTSW 15 39828090 missense possibly damaging 0.76
R2381:Dpys UTSW 15 39842054 missense probably damaging 1.00
R2961:Dpys UTSW 15 39784614 missense probably benign
R4653:Dpys UTSW 15 39793246 missense probably damaging 0.97
R4702:Dpys UTSW 15 39793402 missense possibly damaging 0.69
R4978:Dpys UTSW 15 39826936 missense possibly damaging 0.94
R5640:Dpys UTSW 15 39842066 missense probably damaging 1.00
R5714:Dpys UTSW 15 39857157 missense probably damaging 0.98
R5758:Dpys UTSW 15 39826999 missense possibly damaging 0.67
R6017:Dpys UTSW 15 39846718 missense probably null 0.04
R6482:Dpys UTSW 15 39841973 missense probably damaging 1.00
R6788:Dpys UTSW 15 39857163 missense probably damaging 1.00
R7090:Dpys UTSW 15 39826883 missense probably damaging 0.97
R7098:Dpys UTSW 15 39793331 missense probably damaging 1.00
Posted On2015-12-18