Incidental Mutation 'IGL02372:Dpys'
ID290958
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: 0.158) question?
Stock #IGL02372
Quality Score
Status
Chromosome15
Chromosomal Location39768487-39857470 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 39793271 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 467 (P467T)
Ref Sequence ENSEMBL: ENSMUSP00000105935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022915] [ENSMUST00000110306]
Predicted Effect probably benign
Transcript: ENSMUST00000022915
AA Change: P467T

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022915
Gene: ENSMUSG00000022304
AA Change: P467T

DomainStartEndE-ValueType
Pfam:Amidohydro_1 58 447 1.2e-39 PFAM
Pfam:Amidohydro_3 310 448 6.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110306
AA Change: P467T

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105935
Gene: ENSMUSG00000022304
AA Change: P467T

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001P01Rik A T 11: 97,775,699 Y54N probably damaging Het
Alyref A G 11: 120,594,875 probably benign Het
Ankrd27 A G 7: 35,633,036 probably null Het
Arc A G 15: 74,672,105 S90P probably damaging Het
Atp6v1e1 T A 6: 120,801,123 K150N probably benign Het
Atrn T C 2: 131,002,754 probably benign Het
Ccnb1 A G 13: 100,781,316 Y259H probably damaging Het
Celsr1 A G 15: 85,929,907 V1938A probably benign Het
Ckmt2 A G 13: 91,865,224 V37A probably benign Het
Ehbp1l1 T C 19: 5,710,834 T1535A possibly damaging Het
Eif4enif1 T C 11: 3,229,986 L302P probably benign Het
Faf1 T G 4: 109,935,582 F584V probably benign Het
Glb1l2 G A 9: 26,796,476 R72C probably damaging Het
Gm9892 T C 8: 52,196,836 noncoding transcript Het
Hecw1 G T 13: 14,264,121 D892E probably damaging Het
Hr A G 14: 70,558,350 E474G possibly damaging Het
Ltbp1 T G 17: 75,252,406 F297V probably damaging Het
Myc A G 15: 61,987,858 N127D probably damaging Het
Nbn T A 4: 15,986,613 N671K probably benign Het
Nup210l C A 3: 90,201,971 T1607N possibly damaging Het
Olfr281 A T 15: 98,456,828 T173S probably damaging Het
Osbpl1a T A 18: 12,841,313 K22* probably null Het
Phf20l1 T C 15: 66,641,801 L942P probably damaging Het
Plekhg5 C T 4: 152,102,080 R40W probably damaging Het
Pomt2 C T 12: 87,122,835 probably benign Het
Rab3gap1 A G 1: 127,919,561 probably benign Het
Sbk1 T C 7: 126,291,058 L81P probably damaging Het
Scrib G A 15: 76,048,255 P1524S probably damaging Het
Smpdl3a T A 10: 57,807,515 N240K probably benign Het
Smyd4 A T 11: 75,390,285 K195* probably null Het
Tulp3 A T 6: 128,327,598 M231K possibly damaging Het
Zfp87 A G 13: 67,520,620 probably benign 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
IGL02949:Dpys APN 15 39826883 missense probably damaging 0.97
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
R7869:Dpys UTSW 15 39793386 missense probably damaging 1.00
R8030:Dpys UTSW 15 39828090 missense possibly damaging 0.76
R8092:Dpys UTSW 15 39846614 missense probably benign 0.00
R8318:Dpys UTSW 15 39784665 missense probably benign
R8347:Dpys UTSW 15 39857313 missense probably benign 0.03
R8352:Dpys UTSW 15 39793324 missense possibly damaging 0.46
R8452:Dpys UTSW 15 39793324 missense possibly damaging 0.46
Z1177:Dpys UTSW 15 39842099 missense probably benign 0.11
Posted On2015-04-16