Incidental Mutation 'R9198:Dpyd'
ID |
698029 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpyd
|
Ensembl Gene |
ENSMUSG00000033308 |
Gene Name |
dihydropyrimidine dehydrogenase |
Synonyms |
E330028L06Rik, DPD |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9198 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
118355778-119226573 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 118553303 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: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.5%
|
Validation Efficiency |
97% (61/63) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
A |
G |
5: 8,167,583 (GRCm39) |
|
probably null |
Het |
Adamts9 |
A |
T |
6: 92,837,170 (GRCm39) |
S1164T |
probably benign |
Het |
Bcat1 |
A |
T |
6: 144,985,222 (GRCm39) |
I140N |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,957,129 (GRCm39) |
T2832A |
probably benign |
Het |
Brca2 |
A |
T |
5: 150,459,977 (GRCm39) |
E417D |
possibly damaging |
Het |
Ccdc88b |
T |
C |
19: 6,831,268 (GRCm39) |
D558G |
possibly damaging |
Het |
Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Cenpf |
G |
T |
1: 189,388,987 (GRCm39) |
T1615K |
probably damaging |
Het |
Cep250 |
T |
C |
2: 155,830,354 (GRCm39) |
|
probably null |
Het |
Clec4d |
T |
C |
6: 123,251,757 (GRCm39) |
F213S |
probably damaging |
Het |
Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
Csmd1 |
G |
A |
8: 15,962,430 (GRCm39) |
R3255W |
probably damaging |
Het |
Ctsm |
T |
C |
13: 61,687,612 (GRCm39) |
D82G |
probably damaging |
Het |
Cyp26a1 |
A |
G |
19: 37,686,790 (GRCm39) |
T81A |
probably damaging |
Het |
Dld |
A |
G |
12: 31,390,885 (GRCm39) |
V187A |
probably benign |
Het |
Dmrt2 |
T |
A |
19: 25,655,477 (GRCm39) |
Y359N |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,846,570 (GRCm39) |
N2914S |
probably benign |
Het |
Fgl2 |
A |
C |
5: 21,577,920 (GRCm39) |
Q69P |
probably damaging |
Het |
Gadd45gip1 |
A |
T |
8: 85,560,780 (GRCm39) |
I132F |
probably damaging |
Het |
Gm15446 |
T |
C |
5: 110,090,743 (GRCm39) |
C332R |
probably damaging |
Het |
Gm15737 |
A |
T |
6: 92,856,640 (GRCm39) |
E23V |
unknown |
Het |
Gm5111 |
A |
G |
6: 48,567,037 (GRCm39) |
H84R |
unknown |
Het |
Golga3 |
G |
A |
5: 110,355,619 (GRCm39) |
S991N |
probably benign |
Het |
H2-M10.3 |
A |
G |
17: 36,678,919 (GRCm39) |
Y50H |
probably damaging |
Het |
Hivep2 |
C |
T |
10: 14,005,621 (GRCm39) |
H740Y |
probably benign |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Ints7 |
T |
A |
1: 191,351,872 (GRCm39) |
S860R |
probably benign |
Het |
Lipi |
T |
A |
16: 75,362,461 (GRCm39) |
T217S |
possibly damaging |
Het |
Lrrc2 |
G |
T |
9: 110,791,722 (GRCm39) |
C158F |
probably benign |
Het |
Lrrc30 |
T |
C |
17: 67,938,854 (GRCm39) |
D242G |
probably benign |
Het |
Map1a |
A |
T |
2: 121,133,854 (GRCm39) |
M1557L |
probably benign |
Het |
Matn2 |
A |
G |
15: 34,423,924 (GRCm39) |
E594G |
probably damaging |
Het |
Mfsd12 |
T |
C |
10: 81,198,544 (GRCm39) |
L345P |
probably damaging |
Het |
Mmp24 |
A |
G |
2: 155,640,041 (GRCm39) |
R124G |
probably benign |
Het |
Ngef |
T |
A |
1: 87,406,797 (GRCm39) |
H240L |
unknown |
Het |
Nmur1 |
T |
G |
1: 86,315,256 (GRCm39) |
D203A |
probably benign |
Het |
Nt5c3 |
T |
C |
6: 56,859,955 (GRCm39) |
Q328R |
probably benign |
Het |
Ogfr |
T |
C |
2: 180,232,850 (GRCm39) |
|
probably null |
Het |
Or4k1 |
A |
T |
14: 50,377,990 (GRCm39) |
Y35* |
probably null |
Het |
Or52ac1 |
T |
A |
7: 104,245,635 (GRCm39) |
Y251F |
probably damaging |
Het |
Or5h19 |
A |
G |
16: 58,856,263 (GRCm39) |
V279A |
probably benign |
Het |
Osbpl10 |
G |
A |
9: 115,061,211 (GRCm39) |
W588* |
probably null |
Het |
Pask |
A |
T |
1: 93,265,205 (GRCm39) |
S17T |
possibly damaging |
Het |
Pfkfb3 |
C |
T |
2: 11,491,084 (GRCm39) |
R170K |
probably damaging |
Het |
Plec |
A |
G |
15: 76,069,937 (GRCm39) |
C960R |
unknown |
Het |
Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
Rfx7 |
T |
C |
9: 72,524,163 (GRCm39) |
L451P |
probably damaging |
Het |
Rimbp2 |
T |
A |
5: 128,883,552 (GRCm39) |
E76V |
probably damaging |
Het |
Rock2 |
A |
G |
12: 17,015,557 (GRCm39) |
N818S |
probably benign |
Het |
Ryk |
A |
T |
9: 102,758,854 (GRCm39) |
I248F |
possibly damaging |
Het |
Setd2 |
A |
G |
9: 110,378,168 (GRCm39) |
Q661R |
possibly damaging |
Het |
Siae |
T |
C |
9: 37,539,105 (GRCm39) |
V172A |
probably benign |
Het |
Slc35f4 |
A |
G |
14: 49,556,377 (GRCm39) |
S9P |
unknown |
Het |
Smg1 |
T |
C |
7: 117,795,179 (GRCm39) |
E456G |
unknown |
Het |
Srgap3 |
C |
T |
6: 112,743,865 (GRCm39) |
A458T |
probably damaging |
Het |
Tgfbrap1 |
T |
A |
1: 43,093,799 (GRCm39) |
R564S |
probably damaging |
Het |
Usp15 |
A |
G |
10: 123,004,143 (GRCm39) |
Y204H |
probably damaging |
Het |
Usp35 |
A |
G |
7: 96,962,276 (GRCm39) |
Y527H |
probably damaging |
Het |
Usp8 |
T |
A |
2: 126,600,524 (GRCm39) |
*1092K |
probably null |
Het |
Vmn2r73 |
A |
T |
7: 85,518,987 (GRCm39) |
M545K |
probably benign |
Het |
Ylpm1 |
A |
T |
12: 85,080,689 (GRCm39) |
|
probably null |
Het |
Zscan22 |
G |
T |
7: 12,641,130 (GRCm39) |
R458L |
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 |
|
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 |
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'- CCATTATTCCACATATTGCAAGAGG -3'
(R):5'- AATGCTAATGTCCTGCCCCTAC -3'
Sequencing Primer
(F):5'- CCACATATTGCAAGAGGTATAAAAAC -3'
(R):5'- TGTGGCAACTTGAGATCCAC -3'
|
Posted On |
2022-02-07 |