Incidental Mutation 'R0315:Dpys'
ID 25417
Institutional Source Beutler Lab
Gene Symbol Dpys
Ensembl Gene ENSMUSG00000022304
Gene Name dihydropyrimidinase
Synonyms 1300004I01Rik, 1200017I10Rik, DHPase
MMRRC Submission 038525-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # R0315 (G1)
Quality Score 222
Status Validated
Chromosome 15
Chromosomal Location 39631883-39720866 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 39720734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 9 (I9L)
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: I9L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000022915
Gene: ENSMUSG00000022304
AA Change: I9L

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: I9L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000105935
Gene: ENSMUSG00000022304
AA Change: I9L

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: ENSMUST00000150196
Meta Mutation Damage Score 0.5170 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.9%
  • 20x: 88.9%
Validation Efficiency 100% (42/42)
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
Aars2 G A 17: 45,826,378 (GRCm39) R409Q possibly damaging Het
Ank3 A T 10: 69,838,347 (GRCm39) Q825L probably damaging Het
Ap1g1 A G 8: 110,545,667 (GRCm39) I107V probably benign Het
Bub1b A T 2: 118,457,457 (GRCm39) probably benign Het
Cd86 C T 16: 36,441,306 (GRCm39) V54I possibly damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Flg2 G T 3: 93,122,029 (GRCm39) G1400C unknown Het
Gm28042 T C 2: 119,869,538 (GRCm39) L634P probably damaging Het
Gm6712 G A 17: 17,536,380 (GRCm39) noncoding transcript Het
Gpbp1 T G 13: 111,573,072 (GRCm39) E360A possibly damaging Het
Hmgn1 A C 16: 95,926,017 (GRCm39) I52R probably benign Het
Ing2 A C 8: 48,122,125 (GRCm39) M141R probably benign Het
Klhl2 A T 8: 65,196,053 (GRCm39) Y563* probably null Het
Lrrc9 A G 12: 72,502,802 (GRCm39) T258A probably damaging Het
Map1b A T 13: 99,567,624 (GRCm39) I1699N unknown Het
Map2k5 A T 9: 63,210,433 (GRCm39) H185Q probably damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Mroh1 C T 15: 76,311,800 (GRCm39) A511V possibly damaging Het
Nop53 T C 7: 15,679,235 (GRCm39) D90G probably damaging Het
Or10k2 T C 8: 84,268,001 (GRCm39) V76A possibly damaging Het
Or5b97 A T 19: 12,878,598 (GRCm39) V182D possibly damaging Het
Or5w20 A T 2: 87,727,410 (GRCm39) Y289F probably damaging Het
Or6c209 T A 10: 129,483,366 (GRCm39) I123N probably damaging Het
Pkd2 T A 5: 104,607,716 (GRCm39) S72T possibly damaging Het
Prc1 T C 7: 79,963,284 (GRCm39) S587P probably damaging Het
Rdh7 G T 10: 127,724,265 (GRCm39) T73K possibly damaging Het
Runx1 T C 16: 92,402,655 (GRCm39) N429S probably damaging Het
Skint7 G A 4: 111,845,315 (GRCm39) A376T possibly damaging Het
Slc16a14 T C 1: 84,890,217 (GRCm39) I363V possibly damaging Het
Smarcal1 C T 1: 72,634,970 (GRCm39) Q350* probably null Het
Soat1 T A 1: 156,268,083 (GRCm39) K275* probably null Het
Speg T C 1: 75,391,780 (GRCm39) V1571A possibly damaging Het
Stat5b G C 11: 100,679,286 (GRCm39) D605E probably benign Het
Susd4 G A 1: 182,686,077 (GRCm39) R209H probably benign Het
Tlr1 T G 5: 65,084,271 (GRCm39) D102A probably damaging Het
Tm4sf5 A G 11: 70,401,462 (GRCm39) N154D probably damaging Het
Tmigd3 T A 3: 105,824,085 (GRCm39) M18K probably damaging Het
Ube2h A T 6: 30,241,412 (GRCm39) V86E probably damaging Het
Utp20 A G 10: 88,643,283 (GRCm39) L613P probably damaging Het
Vmn2r117 G A 17: 23,679,139 (GRCm39) S695L probably benign Het
Washc5 T C 15: 59,213,825 (GRCm39) D427G probably damaging Het
Zfp462 T A 4: 55,079,314 (GRCm39) F2403I probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TAGAAGTCGTCCACTGACTGCGAG -3'
(R):5'- TGCAGCTTTCAAATTCCAAGACCCC -3'

Sequencing Primer
(F):5'- TGACTGCGAGCCCATGAAC -3'
(R):5'- CTCTGTGGACTCATAAACTCAGTGG -3'
Posted On 2013-04-16