Incidental Mutation 'R8735:Dpyd'
ID |
662959 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpyd
|
Ensembl Gene |
ENSMUSG00000033308 |
Gene Name |
dihydropyrimidine dehydrogenase |
Synonyms |
E330028L06Rik, DPD |
MMRRC Submission |
068583-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8735 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
118355778-119226573 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 118935565 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 663
(D663E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
AlphaFold |
Q8CHR6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039177
AA Change: D663E
PolyPhen 2
Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000039429 Gene: ENSMUSG00000033308 AA Change: D663E
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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
99% (76/77) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430550D23Rik |
A |
G |
2: 155,845,731 (GRCm39) |
F9S |
unknown |
Het |
Abhd10 |
A |
G |
16: 45,557,997 (GRCm39) |
F101L |
probably damaging |
Het |
Acp2 |
A |
G |
2: 91,034,651 (GRCm39) |
T93A |
probably benign |
Het |
Adamts9 |
C |
T |
6: 92,837,048 (GRCm39) |
|
probably benign |
Het |
Aknad1 |
T |
A |
3: 108,682,615 (GRCm39) |
|
probably benign |
Het |
Ank3 |
A |
T |
10: 69,822,785 (GRCm39) |
T485S |
probably benign |
Het |
Caly |
G |
A |
7: 139,652,503 (GRCm39) |
R82C |
probably damaging |
Het |
Cfhr2 |
A |
G |
1: 139,786,343 (GRCm39) |
L8P |
probably damaging |
Het |
Cpeb2 |
T |
A |
5: 43,438,775 (GRCm39) |
L869* |
probably null |
Het |
Cxxc1 |
A |
G |
18: 74,350,331 (GRCm39) |
K33E |
possibly damaging |
Het |
Cyp17a1 |
T |
C |
19: 46,659,533 (GRCm39) |
|
probably null |
Het |
Cyp4a30b |
G |
A |
4: 115,309,976 (GRCm39) |
W59* |
probably null |
Het |
Dennd4b |
T |
C |
3: 90,185,172 (GRCm39) |
V1204A |
probably damaging |
Het |
Esrrg |
A |
T |
1: 187,933,205 (GRCm39) |
|
probably benign |
Het |
Exoc2 |
A |
C |
13: 31,090,822 (GRCm39) |
L261V |
probably damaging |
Het |
Exosc9 |
T |
C |
3: 36,609,662 (GRCm39) |
L185S |
probably damaging |
Het |
Gcnt3 |
T |
C |
9: 69,941,728 (GRCm39) |
K280R |
probably benign |
Het |
Ighv1-64 |
A |
T |
12: 115,471,217 (GRCm39) |
M100K |
probably benign |
Het |
Impdh2 |
G |
A |
9: 108,441,978 (GRCm39) |
|
probably null |
Het |
Itsn2 |
T |
A |
12: 4,721,474 (GRCm39) |
I1068K |
probably damaging |
Het |
Kif5c |
T |
C |
2: 49,584,783 (GRCm39) |
C169R |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,490,130 (GRCm39) |
S211G |
probably benign |
Het |
Lama2 |
T |
A |
10: 27,066,530 (GRCm39) |
E1117V |
probably damaging |
Het |
Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
Lsg1 |
T |
A |
16: 30,399,865 (GRCm39) |
|
probably null |
Het |
Mab21l4 |
C |
T |
1: 93,082,208 (GRCm39) |
|
probably null |
Het |
Msh3 |
A |
G |
13: 92,411,374 (GRCm39) |
S608P |
possibly damaging |
Het |
Mslnl |
T |
A |
17: 25,964,062 (GRCm39) |
F464I |
probably benign |
Het |
Mycbp2 |
T |
A |
14: 103,460,586 (GRCm39) |
K1493N |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,401,679 (GRCm39) |
|
probably null |
Het |
Myo1b |
A |
T |
1: 51,794,896 (GRCm39) |
F1065I |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,345,136 (GRCm39) |
|
probably benign |
Het |
Nup153 |
C |
A |
13: 46,881,027 (GRCm39) |
|
probably benign |
Het |
Or4f4-ps1 |
T |
A |
2: 111,330,497 (GRCm39) |
I300K |
probably damaging |
Het |
Or5b97 |
A |
G |
19: 12,878,274 (GRCm39) |
V290A |
possibly damaging |
Het |
Osbpl7 |
A |
G |
11: 96,943,194 (GRCm39) |
T149A |
probably benign |
Het |
Parp1 |
A |
G |
1: 180,396,690 (GRCm39) |
D31G |
probably benign |
Het |
Pcdha6 |
T |
A |
18: 37,101,203 (GRCm39) |
V132E |
possibly damaging |
Het |
Pcdhb8 |
T |
A |
18: 37,489,975 (GRCm39) |
L551Q |
possibly damaging |
Het |
Pcsk9 |
T |
A |
4: 106,311,808 (GRCm39) |
T190S |
probably damaging |
Het |
Pdgfrb |
A |
T |
18: 61,197,049 (GRCm39) |
T162S |
probably benign |
Het |
Pi4ka |
C |
T |
16: 17,136,234 (GRCm39) |
R908Q |
|
Het |
Pnpla8 |
A |
G |
12: 44,330,222 (GRCm39) |
E258G |
probably benign |
Het |
Prrc2c |
A |
T |
1: 162,537,127 (GRCm39) |
S643T |
unknown |
Het |
Rnf20 |
T |
G |
4: 49,655,964 (GRCm39) |
I970S |
possibly damaging |
Het |
Robo2 |
A |
T |
16: 73,755,247 (GRCm39) |
V758D |
probably damaging |
Het |
Robo4 |
G |
A |
9: 37,319,577 (GRCm39) |
S609N |
possibly damaging |
Het |
Rrbp1 |
G |
A |
2: 143,830,920 (GRCm39) |
Q416* |
probably null |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
C |
A |
13: 11,701,833 (GRCm39) |
E2941D |
probably damaging |
Het |
Scd2 |
G |
T |
19: 44,289,743 (GRCm39) |
C246F |
probably benign |
Het |
Sh3rf1 |
G |
A |
8: 61,825,687 (GRCm39) |
V561I |
probably benign |
Het |
Slc4a4 |
T |
A |
5: 89,280,301 (GRCm39) |
D366E |
probably damaging |
Het |
Slfn14 |
T |
G |
11: 83,174,715 (GRCm39) |
Q92P |
probably damaging |
Het |
Slfn4 |
A |
T |
11: 83,077,770 (GRCm39) |
Y186F |
probably damaging |
Het |
Smpd4 |
T |
C |
16: 17,453,410 (GRCm39) |
L309P |
possibly damaging |
Het |
Smyd3 |
G |
T |
1: 178,920,482 (GRCm39) |
N217K |
probably benign |
Het |
Spen |
T |
C |
4: 141,197,129 (GRCm39) |
T3547A |
probably benign |
Het |
Suclg1 |
A |
T |
6: 73,253,729 (GRCm39) |
I126F |
unknown |
Het |
Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
Tmprss15 |
A |
T |
16: 78,798,702 (GRCm39) |
I660N |
possibly damaging |
Het |
Trf |
A |
T |
9: 103,087,723 (GRCm39) |
V677D |
probably damaging |
Het |
Trim36 |
T |
C |
18: 46,302,452 (GRCm39) |
N532S |
probably benign |
Het |
Trim37 |
T |
C |
11: 87,037,885 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,570,454 (GRCm39) |
N26813S |
probably benign |
Het |
Vmn1r199 |
T |
A |
13: 22,567,537 (GRCm39) |
V277D |
probably damaging |
Het |
Wdfy3 |
T |
C |
5: 102,077,951 (GRCm39) |
D873G |
probably benign |
Het |
Wdr27 |
T |
C |
17: 15,103,929 (GRCm39) |
T726A |
probably damaging |
Het |
Wdr97 |
T |
C |
15: 76,240,775 (GRCm39) |
Y488H |
|
Het |
Wdtc1 |
A |
T |
4: 133,031,511 (GRCm39) |
C236* |
probably null |
Het |
Wnk4 |
A |
C |
11: 101,167,092 (GRCm39) |
S1083R |
unknown |
Het |
Wwc1 |
A |
T |
11: 35,774,234 (GRCm39) |
I342N |
probably damaging |
Het |
Zbtb40 |
A |
G |
4: 136,725,957 (GRCm39) |
L534P |
probably damaging |
Het |
Zfp62 |
T |
C |
11: 49,108,227 (GRCm39) |
C773R |
probably damaging |
Het |
Zfp709 |
T |
A |
8: 72,643,027 (GRCm39) |
I152N |
probably benign |
Het |
Zfp738 |
T |
C |
13: 67,819,550 (GRCm39) |
Y147C |
probably damaging |
Het |
Zscan18 |
A |
C |
7: 12,503,625 (GRCm39) |
S645A |
probably benign |
Het |
Zw10 |
A |
G |
9: 48,988,861 (GRCm39) |
Y709C |
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 |
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'- AGAGCAGTTTCTACAGAAGTCGAAG -3'
(R):5'- CGTCTTCAGCCAGTCATCAG -3'
Sequencing Primer
(F):5'- TTCTACAGAAGTCGAAGCTATGTAGG -3'
(R):5'- TCTTCAGCCAGTCATCAGATCCAC -3'
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Posted On |
2021-03-08 |