Incidental Mutation 'IGL01408:Dpys'
ID 79865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpys
Ensembl Gene ENSMUSG00000022304
Gene Name dihydropyrimidinase
Synonyms 1300004I01Rik, 1200017I10Rik, DHPase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # IGL01408
Quality Score
Status
Chromosome 15
Chromosomal Location 39631883-39720866 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39656702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 455 (V455A)
Ref Sequence ENSEMBL: ENSMUSP00000105935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022915] [ENSMUST00000110306]
AlphaFold Q9EQF5
Predicted Effect possibly damaging
Transcript: ENSMUST00000022915
AA Change: V455A

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022915
Gene: ENSMUSG00000022304
AA Change: V455A

DomainStartEndE-ValueType
Pfam:Amidohydro_1 58 447 1.2e-39 PFAM
Pfam:Amidohydro_3 310 448 6.4e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110306
AA Change: V455A

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105935
Gene: ENSMUSG00000022304
AA Change: V455A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147378
Predicted Effect probably benign
Transcript: ENSMUST00000155859
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530068E07Rik A G 11: 52,294,193 (GRCm39) R145G probably damaging Het
Akr1c21 T A 13: 4,627,431 (GRCm39) M175K probably benign Het
Apol7a C T 15: 77,273,530 (GRCm39) A311T probably damaging Het
Atxn10 G T 15: 85,260,896 (GRCm39) E214* probably null Het
Bmp2k C T 5: 97,234,823 (GRCm39) Q749* probably null Het
Ccdc141 G A 2: 76,876,023 (GRCm39) A669V probably benign Het
Cndp2 A C 18: 84,689,036 (GRCm39) C249G probably benign Het
Cnr1 A G 4: 33,944,802 (GRCm39) I397V possibly damaging Het
Col19a1 T C 1: 24,345,331 (GRCm39) probably benign Het
Dbn1 T C 13: 55,630,117 (GRCm39) probably benign Het
Dmgdh C T 13: 93,845,803 (GRCm39) P486S probably damaging Het
Farp2 A G 1: 93,546,702 (GRCm39) N907S probably benign Het
Fndc3c1 C T X: 105,476,378 (GRCm39) E894K probably benign Het
Gm6685 A T 11: 28,289,473 (GRCm39) N114K probably damaging Het
Golga3 A T 5: 110,365,675 (GRCm39) probably null Het
Grin2c A G 11: 115,151,708 (GRCm39) L84P probably damaging Het
Gucy2c A G 6: 136,675,009 (GRCm39) F1001L probably benign Het
Hcn4 A G 9: 58,767,169 (GRCm39) H910R unknown Het
Kdm4b T C 17: 56,660,518 (GRCm39) probably benign Het
Lrrfip2 A G 9: 111,043,284 (GRCm39) T497A probably benign Het
Man2c1 A G 9: 57,048,884 (GRCm39) Y924C probably damaging Het
Nkain2 T A 10: 32,278,237 (GRCm39) T63S probably damaging Het
Nlrp1a T A 11: 71,013,742 (GRCm39) T503S probably benign Het
Or52n3 T C 7: 104,530,037 (GRCm39) V41A probably benign Het
Or52n4 T A 7: 104,294,136 (GRCm39) I146F possibly damaging Het
Pitrm1 T A 13: 6,623,078 (GRCm39) C780S probably damaging Het
Plekha5 C T 6: 140,516,042 (GRCm39) probably benign Het
Rapgef4 C T 2: 72,005,185 (GRCm39) R193* probably null Het
Rbm20 A G 19: 53,840,044 (GRCm39) E1011G possibly damaging Het
Rfx3 A T 19: 27,746,050 (GRCm39) D685E probably benign Het
Ror1 T C 4: 100,190,984 (GRCm39) S114P probably damaging Het
Slc17a6 A G 7: 51,318,863 (GRCm39) K502E probably benign Het
Spink2 A T 5: 77,359,174 (GRCm39) probably benign Het
Sptb A T 12: 76,659,921 (GRCm39) I993N possibly damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tes A T 6: 17,099,878 (GRCm39) Y291F probably damaging Het
Tmtc4 G T 14: 123,163,366 (GRCm39) probably benign Het
Trpa1 T C 1: 14,959,637 (GRCm39) E683G probably benign Het
Vmn2r73 T C 7: 85,521,455 (GRCm39) D171G probably benign Het
Wbp11 A G 6: 136,791,612 (GRCm39) probably benign Het
Wfdc12 A G 2: 164,031,581 (GRCm39) *86R probably null Het
Zfp281 T C 1: 136,553,853 (GRCm39) V277A probably damaging Het
Other mutations in Dpys
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Dpys APN 15 39,710,045 (GRCm39) missense probably damaging 1.00
IGL02372:Dpys APN 15 39,656,667 (GRCm39) missense probably benign 0.17
IGL02949:Dpys APN 15 39,690,279 (GRCm39) missense probably damaging 0.97
IGL03357:Dpys APN 15 39,687,612 (GRCm39) missense probably damaging 1.00
IGL02837:Dpys UTSW 15 39,720,701 (GRCm39) missense probably damaging 1.00
PIT4468001:Dpys UTSW 15 39,720,601 (GRCm39) missense probably damaging 0.96
R0315:Dpys UTSW 15 39,720,734 (GRCm39) missense probably benign 0.01
R1252:Dpys UTSW 15 39,687,636 (GRCm39) missense probably damaging 1.00
R2314:Dpys UTSW 15 39,691,486 (GRCm39) missense possibly damaging 0.76
R2381:Dpys UTSW 15 39,705,450 (GRCm39) missense probably damaging 1.00
R2961:Dpys UTSW 15 39,648,010 (GRCm39) missense probably benign
R4653:Dpys UTSW 15 39,656,642 (GRCm39) missense probably damaging 0.97
R4702:Dpys UTSW 15 39,656,798 (GRCm39) missense possibly damaging 0.69
R4978:Dpys UTSW 15 39,690,332 (GRCm39) missense possibly damaging 0.94
R5640:Dpys UTSW 15 39,705,462 (GRCm39) missense probably damaging 1.00
R5714:Dpys UTSW 15 39,720,553 (GRCm39) missense probably damaging 0.98
R5758:Dpys UTSW 15 39,690,395 (GRCm39) missense possibly damaging 0.67
R6017:Dpys UTSW 15 39,710,114 (GRCm39) missense probably null 0.04
R6482:Dpys UTSW 15 39,705,369 (GRCm39) missense probably damaging 1.00
R6788:Dpys UTSW 15 39,720,559 (GRCm39) missense probably damaging 1.00
R7090:Dpys UTSW 15 39,690,279 (GRCm39) missense probably damaging 0.97
R7098:Dpys UTSW 15 39,656,727 (GRCm39) missense probably damaging 1.00
R7869:Dpys UTSW 15 39,656,782 (GRCm39) missense probably damaging 1.00
R8030:Dpys UTSW 15 39,691,486 (GRCm39) missense possibly damaging 0.76
R8092:Dpys UTSW 15 39,710,010 (GRCm39) missense probably benign 0.00
R8318:Dpys UTSW 15 39,648,061 (GRCm39) missense probably benign
R8347:Dpys UTSW 15 39,720,709 (GRCm39) missense probably benign 0.03
R8352:Dpys UTSW 15 39,656,720 (GRCm39) missense possibly damaging 0.46
R8452:Dpys UTSW 15 39,656,720 (GRCm39) missense possibly damaging 0.46
R8914:Dpys UTSW 15 39,720,619 (GRCm39) missense probably benign
R9341:Dpys UTSW 15 39,656,748 (GRCm39) missense possibly damaging 0.88
R9343:Dpys UTSW 15 39,656,748 (GRCm39) missense possibly damaging 0.88
R9403:Dpys UTSW 15 39,691,467 (GRCm39) missense probably damaging 1.00
R9473:Dpys UTSW 15 39,687,583 (GRCm39) missense possibly damaging 0.82
R9723:Dpys UTSW 15 39,691,509 (GRCm39) missense probably damaging 1.00
Z1177:Dpys UTSW 15 39,705,495 (GRCm39) missense probably benign 0.11
Posted On 2013-11-05