Incidental Mutation 'R0523:Dpyd'
ID |
48684 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpyd
|
Ensembl Gene |
ENSMUSG00000033308 |
Gene Name |
dihydropyrimidine dehydrogenase |
Synonyms |
E330028L06Rik, DPD |
MMRRC Submission |
038716-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0523 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
118355778-119226573 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 118692852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Lysine
at position 332
(R332K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
AlphaFold |
Q8CHR6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039177
AA Change: R332K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000039429 Gene: ENSMUSG00000033308 AA Change: R332K
Domain | Start | End | E-Value | Type |
Pfam:Fer4_20
|
55 |
168 |
4.6e-35 |
PFAM |
Pfam:Pyr_redox_2
|
188 |
499 |
1.5e-15 |
PFAM |
Pfam:NAD_binding_8
|
193 |
249 |
5.5e-8 |
PFAM |
Pfam:DHO_dh
|
532 |
838 |
8.1e-36 |
PFAM |
Pfam:Dus
|
617 |
822 |
7.5e-8 |
PFAM |
Pfam:Fer4_10
|
945 |
997 |
7.4e-9 |
PFAM |
Pfam:Fer4_21
|
946 |
1004 |
1.3e-26 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129148
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
|
Allele List at MGI |
All alleles(1) : Targeted, other(1) |
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,535,289 (GRCm39) |
D807G |
possibly damaging |
Het |
Actl9 |
T |
A |
17: 33,652,323 (GRCm39) |
W128R |
probably damaging |
Het |
Aggf1 |
T |
C |
13: 95,492,924 (GRCm39) |
I562V |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,715,200 (GRCm39) |
E79D |
probably benign |
Het |
Apobec1 |
T |
A |
6: 122,558,504 (GRCm39) |
I84F |
probably damaging |
Het |
Atp6v1b2 |
T |
C |
8: 69,562,637 (GRCm39) |
F458L |
possibly damaging |
Het |
Bco2 |
A |
T |
9: 50,445,926 (GRCm39) |
V490E |
probably damaging |
Het |
Catsperg1 |
G |
A |
7: 28,884,615 (GRCm39) |
|
probably benign |
Het |
Cdc37 |
T |
C |
9: 21,054,292 (GRCm39) |
K111R |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,744,745 (GRCm39) |
|
probably benign |
Het |
Cfap91 |
G |
A |
16: 38,148,736 (GRCm39) |
P231S |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,223,870 (GRCm39) |
Y878N |
probably damaging |
Het |
Cpox |
T |
A |
16: 58,495,608 (GRCm39) |
C308* |
probably null |
Het |
Cracdl |
A |
T |
1: 37,683,710 (GRCm39) |
M1K |
probably null |
Het |
Ctnna3 |
T |
G |
10: 64,511,688 (GRCm39) |
M626R |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,727,873 (GRCm39) |
E93G |
probably benign |
Het |
Cyp2s1 |
G |
A |
7: 25,505,475 (GRCm39) |
R330W |
probably damaging |
Het |
Diaph1 |
C |
T |
18: 37,989,553 (GRCm39) |
V860I |
possibly damaging |
Het |
Dicer1 |
A |
G |
12: 104,668,750 (GRCm39) |
S1311P |
probably damaging |
Het |
E130308A19Rik |
G |
A |
4: 59,719,716 (GRCm39) |
R416H |
probably damaging |
Het |
Eef1d |
T |
C |
15: 75,775,005 (GRCm39) |
D218G |
probably benign |
Het |
Eif2ak1 |
T |
C |
5: 143,818,984 (GRCm39) |
V215A |
probably damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,272,577 (GRCm39) |
|
probably null |
Het |
Fcrl5 |
T |
C |
3: 87,365,099 (GRCm39) |
S583P |
possibly damaging |
Het |
Garin5b |
A |
G |
7: 4,762,392 (GRCm39) |
S246P |
possibly damaging |
Het |
Grid2ip |
C |
A |
5: 143,358,798 (GRCm39) |
Q29K |
possibly damaging |
Het |
Htr1f |
A |
T |
16: 64,746,262 (GRCm39) |
N343K |
probably damaging |
Het |
Hvcn1 |
T |
C |
5: 122,354,428 (GRCm39) |
|
probably null |
Het |
Igf2r |
T |
C |
17: 12,910,951 (GRCm39) |
I1956V |
probably benign |
Het |
Impdh2 |
A |
T |
9: 108,439,018 (GRCm39) |
|
probably null |
Het |
Impdh2 |
C |
T |
9: 108,439,019 (GRCm39) |
T96I |
possibly damaging |
Het |
Lactb |
C |
G |
9: 66,877,974 (GRCm39) |
G285A |
probably benign |
Het |
Lrrc43 |
T |
C |
5: 123,639,305 (GRCm39) |
S445P |
probably damaging |
Het |
Mapk12 |
T |
G |
15: 89,019,848 (GRCm39) |
M120L |
probably benign |
Het |
Mroh8 |
C |
G |
2: 157,065,956 (GRCm39) |
A669P |
probably damaging |
Het |
Mrpl38 |
A |
C |
11: 116,022,844 (GRCm39) |
H373Q |
probably benign |
Het |
Myocd |
A |
G |
11: 65,071,728 (GRCm39) |
V740A |
probably damaging |
Het |
Naprt |
A |
G |
15: 75,764,314 (GRCm39) |
F300S |
probably damaging |
Het |
Ncam2 |
T |
C |
16: 81,258,531 (GRCm39) |
I271T |
probably damaging |
Het |
Nek4 |
A |
G |
14: 30,701,995 (GRCm39) |
T582A |
probably benign |
Het |
Notch2 |
C |
T |
3: 97,978,286 (GRCm39) |
T89I |
probably benign |
Het |
Notch2 |
G |
A |
3: 98,018,914 (GRCm39) |
R692H |
probably benign |
Het |
Nt5c3 |
A |
T |
6: 56,860,666 (GRCm39) |
N296K |
probably damaging |
Het |
Nt5c3b |
T |
A |
11: 100,327,036 (GRCm39) |
I87F |
probably damaging |
Het |
Oas3 |
T |
C |
5: 120,904,209 (GRCm39) |
Q555R |
unknown |
Het |
Or2ag17 |
A |
G |
7: 106,389,533 (GRCm39) |
V225A |
probably damaging |
Het |
Or5p69 |
A |
T |
7: 107,967,438 (GRCm39) |
H247L |
probably damaging |
Het |
Or9g19 |
T |
A |
2: 85,600,273 (GRCm39) |
S43T |
probably benign |
Het |
P3h1 |
C |
A |
4: 119,098,727 (GRCm39) |
Q410K |
probably benign |
Het |
Pax3 |
A |
G |
1: 78,172,078 (GRCm39) |
V44A |
possibly damaging |
Het |
Pde1c |
T |
A |
6: 56,151,926 (GRCm39) |
L252F |
probably damaging |
Het |
Pdzd7 |
T |
A |
19: 45,024,529 (GRCm39) |
T497S |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,155,552 (GRCm39) |
T253A |
probably damaging |
Het |
Pipox |
T |
C |
11: 77,782,965 (GRCm39) |
E79G |
probably damaging |
Het |
Pole |
G |
T |
5: 110,451,459 (GRCm39) |
M829I |
probably damaging |
Het |
Ppp1r12c |
A |
T |
7: 4,492,771 (GRCm39) |
L156Q |
probably damaging |
Het |
Psme2b |
T |
G |
11: 48,836,609 (GRCm39) |
T113P |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,416,081 (GRCm39) |
I1739T |
possibly damaging |
Het |
Qser1 |
T |
C |
2: 104,620,021 (GRCm39) |
T174A |
probably damaging |
Het |
Rcor3 |
T |
G |
1: 191,814,736 (GRCm39) |
D81A |
probably damaging |
Het |
Rev3l |
T |
C |
10: 39,724,045 (GRCm39) |
V785A |
probably benign |
Het |
Rnf11 |
T |
C |
4: 109,314,119 (GRCm39) |
D90G |
probably benign |
Het |
Sh3tc1 |
GCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCC |
5: 35,881,410 (GRCm39) |
|
probably benign |
Het |
Smad2 |
T |
A |
18: 76,395,623 (GRCm39) |
S21T |
probably benign |
Het |
Smc4 |
A |
G |
3: 68,933,221 (GRCm39) |
D639G |
probably damaging |
Het |
Smtn |
A |
T |
11: 3,474,664 (GRCm39) |
S716T |
possibly damaging |
Het |
Smug1 |
G |
T |
15: 103,064,136 (GRCm39) |
Q262K |
probably benign |
Het |
Sspo |
G |
T |
6: 48,428,794 (GRCm39) |
G403V |
probably benign |
Het |
Tas2r131 |
A |
G |
6: 132,934,414 (GRCm39) |
F132L |
possibly damaging |
Het |
Tgm3 |
T |
C |
2: 129,886,582 (GRCm39) |
|
probably null |
Het |
Tigd2 |
C |
T |
6: 59,187,358 (GRCm39) |
T75M |
probably benign |
Het |
Tnfrsf13b |
T |
C |
11: 61,038,413 (GRCm39) |
V232A |
probably benign |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Trim47 |
A |
G |
11: 115,998,716 (GRCm39) |
L301S |
probably damaging |
Het |
Trim75 |
G |
A |
8: 65,436,442 (GRCm39) |
H3Y |
probably benign |
Het |
Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
Tsbp1 |
G |
T |
17: 34,664,473 (GRCm39) |
|
probably null |
Het |
Ttc29 |
G |
C |
8: 79,003,466 (GRCm39) |
L227F |
probably benign |
Het |
Ttc39d |
G |
A |
17: 80,523,886 (GRCm39) |
D182N |
possibly damaging |
Het |
Ttll10 |
T |
A |
4: 156,129,818 (GRCm39) |
R164* |
probably null |
Het |
Ufsp2 |
T |
A |
8: 46,449,780 (GRCm39) |
D447E |
probably benign |
Het |
Ugt2b37 |
T |
A |
5: 87,399,691 (GRCm39) |
L272F |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,472,196 (GRCm39) |
V833A |
probably benign |
Het |
Zbbx |
T |
C |
3: 74,989,165 (GRCm39) |
T308A |
probably benign |
Het |
Zfp933 |
G |
A |
4: 147,910,919 (GRCm39) |
Q226* |
probably null |
Het |
|
Other mutations in Dpyd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Dpyd
|
APN |
3 |
118,737,891 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00508:Dpyd
|
APN |
3 |
118,858,636 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02113:Dpyd
|
APN |
3 |
118,792,868 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02177:Dpyd
|
APN |
3 |
118,858,559 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL03001:Dpyd
|
APN |
3 |
118,710,891 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03106:Dpyd
|
APN |
3 |
118,988,783 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03399:Dpyd
|
APN |
3 |
119,108,426 (GRCm39) |
missense |
probably damaging |
0.98 |
F5770:Dpyd
|
UTSW |
3 |
118,690,775 (GRCm39) |
nonsense |
probably null |
|
F6893:Dpyd
|
UTSW |
3 |
118,597,783 (GRCm39) |
critical splice donor site |
probably null |
|
R0014:Dpyd
|
UTSW |
3 |
118,935,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R0081:Dpyd
|
UTSW |
3 |
118,737,904 (GRCm39) |
missense |
probably benign |
0.00 |
R0267:Dpyd
|
UTSW |
3 |
118,710,921 (GRCm39) |
missense |
probably benign |
|
R0349:Dpyd
|
UTSW |
3 |
118,710,748 (GRCm39) |
nonsense |
probably null |
|
R0387:Dpyd
|
UTSW |
3 |
119,220,875 (GRCm39) |
missense |
probably benign |
0.21 |
R0555:Dpyd
|
UTSW |
3 |
119,225,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R0652:Dpyd
|
UTSW |
3 |
119,220,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R0741:Dpyd
|
UTSW |
3 |
118,468,154 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1313:Dpyd
|
UTSW |
3 |
118,692,810 (GRCm39) |
splice site |
probably benign |
|
R1554:Dpyd
|
UTSW |
3 |
118,858,695 (GRCm39) |
splice site |
probably null |
|
R1610:Dpyd
|
UTSW |
3 |
118,858,655 (GRCm39) |
missense |
probably benign |
|
R1710:Dpyd
|
UTSW |
3 |
118,404,092 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1861:Dpyd
|
UTSW |
3 |
118,710,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R2103:Dpyd
|
UTSW |
3 |
118,858,601 (GRCm39) |
missense |
probably benign |
0.02 |
R2130:Dpyd
|
UTSW |
3 |
118,468,217 (GRCm39) |
missense |
probably benign |
|
R2131:Dpyd
|
UTSW |
3 |
118,468,217 (GRCm39) |
missense |
probably benign |
|
R2882:Dpyd
|
UTSW |
3 |
118,858,679 (GRCm39) |
missense |
probably damaging |
0.99 |
R3771:Dpyd
|
UTSW |
3 |
119,205,927 (GRCm39) |
critical splice donor site |
probably null |
|
R3978:Dpyd
|
UTSW |
3 |
118,690,738 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R3978:Dpyd
|
UTSW |
3 |
118,690,737 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R4030:Dpyd
|
UTSW |
3 |
118,690,815 (GRCm39) |
missense |
probably benign |
0.03 |
R4065:Dpyd
|
UTSW |
3 |
118,690,738 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R4066:Dpyd
|
UTSW |
3 |
118,690,738 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R4234:Dpyd
|
UTSW |
3 |
119,225,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R4502:Dpyd
|
UTSW |
3 |
118,591,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R4638:Dpyd
|
UTSW |
3 |
119,059,726 (GRCm39) |
missense |
probably benign |
0.03 |
R4980:Dpyd
|
UTSW |
3 |
118,710,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R5262:Dpyd
|
UTSW |
3 |
118,591,071 (GRCm39) |
nonsense |
probably null |
|
R5348:Dpyd
|
UTSW |
3 |
118,575,592 (GRCm39) |
missense |
probably benign |
|
R5587:Dpyd
|
UTSW |
3 |
118,858,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R5611:Dpyd
|
UTSW |
3 |
118,987,942 (GRCm39) |
missense |
probably benign |
|
R5665:Dpyd
|
UTSW |
3 |
118,710,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R5716:Dpyd
|
UTSW |
3 |
118,692,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R5786:Dpyd
|
UTSW |
3 |
119,220,886 (GRCm39) |
missense |
probably damaging |
0.97 |
R6046:Dpyd
|
UTSW |
3 |
119,225,224 (GRCm39) |
missense |
probably benign |
0.01 |
R6404:Dpyd
|
UTSW |
3 |
119,059,606 (GRCm39) |
missense |
probably benign |
0.02 |
R6703:Dpyd
|
UTSW |
3 |
118,690,849 (GRCm39) |
splice site |
probably null |
|
R7037:Dpyd
|
UTSW |
3 |
118,692,938 (GRCm39) |
missense |
probably benign |
0.00 |
R7215:Dpyd
|
UTSW |
3 |
119,059,681 (GRCm39) |
missense |
probably benign |
0.11 |
R7301:Dpyd
|
UTSW |
3 |
118,692,933 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7336:Dpyd
|
UTSW |
3 |
118,858,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R7714:Dpyd
|
UTSW |
3 |
118,597,780 (GRCm39) |
missense |
probably benign |
0.01 |
R8238:Dpyd
|
UTSW |
3 |
118,988,842 (GRCm39) |
splice site |
probably null |
|
R8306:Dpyd
|
UTSW |
3 |
119,205,822 (GRCm39) |
missense |
probably benign |
|
R8315:Dpyd
|
UTSW |
3 |
119,108,534 (GRCm39) |
missense |
probably benign |
0.09 |
R8321:Dpyd
|
UTSW |
3 |
118,575,573 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8342:Dpyd
|
UTSW |
3 |
119,108,452 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8735:Dpyd
|
UTSW |
3 |
118,935,565 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8750:Dpyd
|
UTSW |
3 |
118,935,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R8874:Dpyd
|
UTSW |
3 |
118,792,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R8910:Dpyd
|
UTSW |
3 |
118,404,167 (GRCm39) |
missense |
probably benign |
0.17 |
R8973:Dpyd
|
UTSW |
3 |
119,108,582 (GRCm39) |
critical splice donor site |
probably null |
|
R9070:Dpyd
|
UTSW |
3 |
118,792,892 (GRCm39) |
missense |
probably damaging |
0.98 |
R9132:Dpyd
|
UTSW |
3 |
118,710,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R9198:Dpyd
|
UTSW |
3 |
118,553,303 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9260:Dpyd
|
UTSW |
3 |
119,108,447 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9307:Dpyd
|
UTSW |
3 |
119,108,560 (GRCm39) |
missense |
probably benign |
|
V7581:Dpyd
|
UTSW |
3 |
118,690,775 (GRCm39) |
nonsense |
probably null |
|
V7582:Dpyd
|
UTSW |
3 |
118,690,775 (GRCm39) |
nonsense |
probably null |
|
V7583:Dpyd
|
UTSW |
3 |
118,690,775 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCCTGGAAAACTGCAAGATGCAA -3'
(R):5'- AGCTCTTTTAAAGTGCTCTGCTGCAA -3'
Sequencing Primer
(F):5'- CTGCAAGATGCAATTTTACAGTGC -3'
(R):5'- GCATATCAACAGTGTCATTGCC -3'
|
Posted On |
2013-06-12 |