Incidental Mutation 'IGL02372:Dpys'
ID 290958
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 # IGL02372
Quality Score
Status
Chromosome 15
Chromosomal Location 39631883-39720866 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 39656667 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9EQF5
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
Alyref A G 11: 120,485,701 (GRCm39) probably benign Het
Ankrd27 A G 7: 35,332,461 (GRCm39) probably null Het
Arc A G 15: 74,543,954 (GRCm39) S90P probably damaging Het
Atp6v1e1 T A 6: 120,778,084 (GRCm39) K150N probably benign Het
Atrn T C 2: 130,844,674 (GRCm39) probably benign Het
Ccnb1 A G 13: 100,917,824 (GRCm39) Y259H probably damaging Het
Celsr1 A G 15: 85,814,108 (GRCm39) V1938A probably benign Het
Ckmt2 A G 13: 92,013,343 (GRCm39) V37A probably benign Het
Ehbp1l1 T C 19: 5,760,862 (GRCm39) T1535A possibly damaging Het
Eif4enif1 T C 11: 3,179,986 (GRCm39) L302P probably benign Het
Faf1 T G 4: 109,792,779 (GRCm39) F584V probably benign Het
Glb1l2 G A 9: 26,707,772 (GRCm39) R72C probably damaging Het
Gm9892 T C 8: 52,649,871 (GRCm39) noncoding transcript Het
Hecw1 G T 13: 14,438,706 (GRCm39) D892E probably damaging Het
Hr A G 14: 70,795,790 (GRCm39) E474G possibly damaging Het
Ltbp1 T G 17: 75,559,401 (GRCm39) F297V probably damaging Het
Myc A G 15: 61,859,707 (GRCm39) N127D probably damaging Het
Nbn T A 4: 15,986,613 (GRCm39) N671K probably benign Het
Nup210l C A 3: 90,109,278 (GRCm39) T1607N possibly damaging Het
Or8s8 A T 15: 98,354,709 (GRCm39) T173S probably damaging Het
Osbpl1a T A 18: 12,974,370 (GRCm39) K22* probably null Het
Phf20l1 T C 15: 66,513,650 (GRCm39) L942P probably damaging Het
Plekhg5 C T 4: 152,186,537 (GRCm39) R40W probably damaging Het
Pomt2 C T 12: 87,169,609 (GRCm39) probably benign Het
Rab3gap1 A G 1: 127,847,298 (GRCm39) probably benign Het
Sbk1 T C 7: 125,890,230 (GRCm39) L81P probably damaging Het
Scrib G A 15: 75,920,104 (GRCm39) P1524S probably damaging Het
Smpdl3a T A 10: 57,683,611 (GRCm39) N240K probably benign Het
Smyd4 A T 11: 75,281,111 (GRCm39) K195* probably null Het
Spmap1 A T 11: 97,666,525 (GRCm39) Y54N probably damaging Het
Tulp3 A T 6: 128,304,561 (GRCm39) M231K possibly damaging Het
Zfp87 A G 13: 67,668,739 (GRCm39) probably benign Het
Other mutations in Dpys
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Dpys APN 15 39,710,045 (GRCm39) missense probably damaging 1.00
IGL01408:Dpys APN 15 39,656,702 (GRCm39) missense possibly damaging 0.74
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 2015-04-16