Incidental Mutation 'R1554:Dpyd'
ID |
170137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpyd
|
Ensembl Gene |
ENSMUSG00000033308 |
Gene Name |
dihydropyrimidine dehydrogenase |
Synonyms |
E330028L06Rik, DPD |
MMRRC Submission |
039593-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1554 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
118355778-119226573 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
A to T
at 118858695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
AlphaFold |
Q8CHR6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000039177
|
SMART Domains |
Protein: ENSMUSP00000039429 Gene: ENSMUSG00000033308
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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.0%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
A |
19: 31,886,302 (GRCm39) |
D70E |
possibly damaging |
Het |
Adamts7 |
A |
T |
9: 90,055,703 (GRCm39) |
D152V |
probably damaging |
Het |
Api5 |
T |
C |
2: 94,255,988 (GRCm39) |
D233G |
probably benign |
Het |
Btaf1 |
A |
G |
19: 36,973,998 (GRCm39) |
D1390G |
probably benign |
Het |
Cep135 |
G |
A |
5: 76,782,060 (GRCm39) |
W893* |
probably null |
Het |
Cgas |
A |
T |
9: 78,342,838 (GRCm39) |
S321R |
probably damaging |
Het |
Cmtm6 |
T |
A |
9: 114,575,550 (GRCm39) |
V153D |
possibly damaging |
Het |
Dnah11 |
C |
T |
12: 118,046,234 (GRCm39) |
V1735I |
possibly damaging |
Het |
Dnm1l |
T |
C |
16: 16,159,290 (GRCm39) |
N104S |
probably benign |
Het |
Dtx1 |
T |
C |
5: 120,821,386 (GRCm39) |
K387R |
probably damaging |
Het |
Ercc4 |
A |
G |
16: 12,965,486 (GRCm39) |
D706G |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,144,490 (GRCm39) |
N4128S |
probably benign |
Het |
Gm42669 |
T |
A |
5: 107,655,653 (GRCm39) |
C639S |
possibly damaging |
Het |
Grk3 |
T |
A |
5: 113,117,135 (GRCm39) |
I89L |
possibly damaging |
Het |
Grm8 |
A |
T |
6: 28,125,852 (GRCm39) |
D91E |
probably benign |
Het |
Havcr1 |
C |
A |
11: 46,643,334 (GRCm39) |
H85N |
probably benign |
Het |
Il12rb1 |
G |
A |
8: 71,266,016 (GRCm39) |
|
probably null |
Het |
Kif3a |
A |
G |
11: 53,489,154 (GRCm39) |
K117E |
probably damaging |
Het |
Kitl |
T |
A |
10: 99,923,300 (GRCm39) |
F15L |
probably benign |
Het |
Ktn1 |
T |
G |
14: 47,932,964 (GRCm39) |
L706R |
probably damaging |
Het |
Lipg |
T |
C |
18: 75,081,118 (GRCm39) |
Y321C |
probably damaging |
Het |
Mapk8ip3 |
T |
C |
17: 25,122,033 (GRCm39) |
D710G |
probably benign |
Het |
Mchr1 |
A |
G |
15: 81,120,021 (GRCm39) |
N16S |
probably benign |
Het |
Myadml2 |
A |
T |
11: 120,538,553 (GRCm39) |
L94* |
probably null |
Het |
Npr3 |
C |
A |
15: 11,848,649 (GRCm39) |
M439I |
probably benign |
Het |
Obscn |
A |
G |
11: 58,894,474 (GRCm39) |
I6677T |
unknown |
Het |
Ogn |
A |
C |
13: 49,774,520 (GRCm39) |
D221A |
probably benign |
Het |
Or8b40 |
T |
C |
9: 38,027,230 (GRCm39) |
I46T |
probably benign |
Het |
Pard3b |
C |
A |
1: 62,677,053 (GRCm39) |
Q1195K |
probably damaging |
Het |
Pcsk4 |
T |
C |
10: 80,157,785 (GRCm39) |
E608G |
probably benign |
Het |
Pdlim1 |
T |
C |
19: 40,211,516 (GRCm39) |
D259G |
probably benign |
Het |
Per1 |
T |
C |
11: 68,994,453 (GRCm39) |
S526P |
probably damaging |
Het |
Pfkfb2 |
A |
G |
1: 130,634,209 (GRCm39) |
V156A |
probably damaging |
Het |
Ppp4r3a |
A |
T |
12: 101,022,081 (GRCm39) |
D307E |
probably damaging |
Het |
Rims4 |
T |
C |
2: 163,721,042 (GRCm39) |
S70G |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,332,665 (GRCm39) |
F2625L |
probably benign |
Het |
Sap130 |
T |
C |
18: 31,799,525 (GRCm39) |
L334P |
probably damaging |
Het |
Slc16a10 |
T |
C |
10: 39,952,796 (GRCm39) |
I233V |
probably benign |
Het |
Slc16a7 |
A |
C |
10: 125,066,791 (GRCm39) |
F283V |
possibly damaging |
Het |
Slc25a24 |
T |
C |
3: 109,043,586 (GRCm39) |
M81T |
probably benign |
Het |
Slc30a9 |
A |
G |
5: 67,484,264 (GRCm39) |
R134G |
probably damaging |
Het |
Slc35d3 |
G |
T |
10: 19,726,483 (GRCm39) |
L96M |
probably damaging |
Het |
Slc7a11 |
C |
T |
3: 50,336,345 (GRCm39) |
G333D |
probably damaging |
Het |
Stam |
T |
C |
2: 14,146,639 (GRCm39) |
S446P |
probably benign |
Het |
Stk38 |
T |
A |
17: 29,198,206 (GRCm39) |
N248I |
possibly damaging |
Het |
Tasor2 |
A |
G |
13: 3,626,374 (GRCm39) |
V1192A |
possibly damaging |
Het |
Tle6 |
A |
C |
10: 81,431,219 (GRCm39) |
S221A |
probably benign |
Het |
Tmprss11b |
G |
A |
5: 86,809,490 (GRCm39) |
T334I |
probably benign |
Het |
Tmprss11c |
T |
A |
5: 86,437,119 (GRCm39) |
M1L |
possibly damaging |
Het |
Tpm1 |
T |
C |
9: 66,930,711 (GRCm39) |
H262R |
probably benign |
Het |
Tspan33 |
T |
C |
6: 29,711,081 (GRCm39) |
S118P |
possibly damaging |
Het |
Tyk2 |
A |
G |
9: 21,019,218 (GRCm39) |
V1068A |
probably damaging |
Het |
Ubr2 |
T |
C |
17: 47,283,877 (GRCm39) |
I591V |
probably benign |
Het |
Utp20 |
A |
T |
10: 88,600,599 (GRCm39) |
Y38* |
probably null |
Het |
Vmn1r217 |
A |
T |
13: 23,298,464 (GRCm39) |
I146N |
possibly damaging |
Het |
Zfp608 |
T |
C |
18: 55,031,126 (GRCm39) |
Y938C |
probably damaging |
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 |
R0523:Dpyd
|
UTSW |
3 |
118,692,852 (GRCm39) |
missense |
probably benign |
|
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 |
|
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'- GGACATCGTGACAAACGTCTCACC -3'
(R):5'- TAGAGACTTCTTCCATGCGCCCAG -3'
Sequencing Primer
(F):5'- CCAAGAATCATCCGGGGGAC -3'
(R):5'- TATAACAAAGCCTCACATTGGGAG -3'
|
Posted On |
2014-04-13 |