Incidental Mutation 'R5611:Dpyd'
ID |
438011 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpyd
|
Ensembl Gene |
ENSMUSG00000033308 |
Gene Name |
dihydropyrimidine dehydrogenase |
Synonyms |
E330028L06Rik, DPD |
MMRRC Submission |
043273-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5611 (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 118987942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 704
(V704I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
AlphaFold |
Q8CHR6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039177
AA Change: V704I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000039429 Gene: ENSMUSG00000033308 AA Change: V704I
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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
G |
C |
11: 48,910,828 (GRCm39) |
T535R |
possibly damaging |
Het |
Adam34 |
A |
T |
8: 44,104,749 (GRCm39) |
F299I |
probably benign |
Het |
Adamts20 |
A |
G |
15: 94,171,161 (GRCm39) |
M1854T |
possibly damaging |
Het |
Adrm1b |
G |
A |
3: 92,335,758 (GRCm39) |
P315S |
probably damaging |
Het |
Apbb1 |
A |
G |
7: 105,208,690 (GRCm39) |
V581A |
probably damaging |
Het |
Apol6 |
T |
A |
15: 76,935,240 (GRCm39) |
|
probably null |
Het |
Arhgef37 |
T |
C |
18: 61,640,334 (GRCm39) |
T242A |
probably benign |
Het |
Asxl2 |
T |
C |
12: 3,534,598 (GRCm39) |
V265A |
probably damaging |
Het |
Bicd1 |
A |
T |
6: 149,414,954 (GRCm39) |
R556* |
probably null |
Het |
C2 |
A |
G |
17: 35,091,360 (GRCm39) |
I101T |
probably damaging |
Het |
Cd22 |
T |
A |
7: 30,577,575 (GRCm39) |
|
probably benign |
Het |
Cd33 |
T |
C |
7: 43,181,542 (GRCm39) |
H206R |
probably damaging |
Het |
Cd5l |
G |
A |
3: 87,275,082 (GRCm39) |
G207D |
possibly damaging |
Het |
Chrd |
A |
T |
16: 20,557,724 (GRCm39) |
D774V |
probably damaging |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Csn1s1 |
A |
T |
5: 87,825,503 (GRCm39) |
|
probably null |
Het |
Dscc1 |
C |
A |
15: 54,945,569 (GRCm39) |
Q312H |
probably benign |
Het |
Dysf |
A |
T |
6: 84,041,860 (GRCm39) |
T154S |
probably damaging |
Het |
Foxi2 |
T |
C |
7: 135,013,433 (GRCm39) |
V221A |
probably benign |
Het |
Gabbr2 |
A |
T |
4: 46,804,105 (GRCm39) |
I250N |
probably damaging |
Het |
Gfap |
T |
A |
11: 102,787,895 (GRCm39) |
T17S |
probably benign |
Het |
Hcrtr2 |
A |
G |
9: 76,230,596 (GRCm39) |
V64A |
probably damaging |
Het |
Igkv4-86 |
A |
G |
6: 68,887,659 (GRCm39) |
S27P |
probably damaging |
Het |
Kalrn |
G |
T |
16: 33,996,150 (GRCm39) |
F903L |
probably damaging |
Het |
Lrrc31 |
A |
G |
3: 30,745,304 (GRCm39) |
|
probably null |
Het |
Mlh3 |
T |
C |
12: 85,314,219 (GRCm39) |
T656A |
probably benign |
Het |
Mss51 |
G |
T |
14: 20,533,174 (GRCm39) |
S432R |
possibly damaging |
Het |
Mzf1 |
A |
G |
7: 12,778,554 (GRCm39) |
|
probably benign |
Het |
Nop58 |
T |
A |
1: 59,749,672 (GRCm39) |
|
probably benign |
Het |
Or10al5 |
A |
T |
17: 38,062,975 (GRCm39) |
I77F |
possibly damaging |
Het |
Otogl |
T |
C |
10: 107,622,630 (GRCm39) |
E1652G |
probably damaging |
Het |
Pikfyve |
C |
A |
1: 65,295,247 (GRCm39) |
N1459K |
probably damaging |
Het |
Pkn3 |
G |
A |
2: 29,969,673 (GRCm39) |
G61D |
probably damaging |
Het |
Plekha4 |
T |
C |
7: 45,203,065 (GRCm39) |
S581P |
probably benign |
Het |
Ppm1g |
A |
G |
5: 31,363,441 (GRCm39) |
F256L |
probably damaging |
Het |
Proser1 |
A |
G |
3: 53,386,296 (GRCm39) |
N726S |
probably benign |
Het |
Rapgef1 |
A |
G |
2: 29,592,448 (GRCm39) |
D480G |
probably damaging |
Het |
Reln |
G |
A |
5: 22,244,663 (GRCm39) |
Q772* |
probably null |
Het |
Sh3gl2 |
T |
C |
4: 85,273,568 (GRCm39) |
V40A |
probably benign |
Het |
Slc22a23 |
G |
A |
13: 34,489,222 (GRCm39) |
T221I |
probably benign |
Het |
Slc22a28 |
T |
A |
19: 8,040,698 (GRCm39) |
T518S |
probably damaging |
Het |
Slc4a1ap |
A |
G |
5: 31,711,173 (GRCm39) |
|
probably benign |
Het |
St8sia4 |
T |
C |
1: 95,555,409 (GRCm39) |
D207G |
probably damaging |
Het |
Syde1 |
T |
A |
10: 78,421,725 (GRCm39) |
T609S |
probably benign |
Het |
Tbc1d5 |
A |
G |
17: 51,042,995 (GRCm39) |
I831T |
probably damaging |
Het |
Tle4 |
T |
C |
19: 14,427,159 (GRCm39) |
D754G |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,562,869 (GRCm39) |
W26949* |
probably null |
Het |
Vmn1r222 |
A |
C |
13: 23,416,743 (GRCm39) |
S157A |
probably damaging |
Het |
Vmn1r51 |
T |
A |
6: 90,106,692 (GRCm39) |
L203M |
probably benign |
Het |
Vmn1r6 |
T |
C |
6: 56,979,362 (GRCm39) |
L8P |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,013,904 (GRCm39) |
D232G |
probably damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,576,030 (GRCm39) |
D300E |
probably damaging |
Het |
Vmn2r66 |
T |
A |
7: 84,654,951 (GRCm39) |
K453* |
probably null |
Het |
Vps13a |
A |
T |
19: 16,702,936 (GRCm39) |
D672E |
probably damaging |
Het |
Vps54 |
A |
G |
11: 21,261,130 (GRCm39) |
N599S |
possibly damaging |
Het |
Zc3h13 |
A |
T |
14: 75,568,348 (GRCm39) |
N1214Y |
probably benign |
Het |
Zc3h18 |
T |
G |
8: 123,135,109 (GRCm39) |
|
probably null |
Het |
Zfp51 |
A |
G |
17: 21,684,354 (GRCm39) |
E323G |
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 |
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'- CTGCAGAGTGTATCAGGCAG -3'
(R):5'- GCGTGTTAAGATGTATAAAACCAGG -3'
Sequencing Primer
(F):5'- ATCAGGCAGTTTCTGGTCAAC -3'
(R):5'- CACTGTGGAAGCATTGGT -3'
|
Posted On |
2016-10-26 |