Incidental Mutation 'R5262:Dpyd'
ID |
401483 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpyd
|
Ensembl Gene |
ENSMUSG00000033308 |
Gene Name |
dihydropyrimidine dehydrogenase |
Synonyms |
E330028L06Rik, DPD |
MMRRC Submission |
042857-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5262 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
118355778-119226573 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 118591071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 186
(Y186*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
AlphaFold |
Q8CHR6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000039177
AA Change: Y186*
|
SMART Domains |
Protein: ENSMUSP00000039429 Gene: ENSMUSG00000033308 AA Change: Y186*
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: ENSMUST00000126254
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
Validation Efficiency |
98% (61/62) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago4 |
T |
A |
4: 126,390,557 (GRCm39) |
D821V |
possibly damaging |
Het |
Ankdd1b |
C |
A |
13: 96,557,281 (GRCm39) |
R384L |
probably damaging |
Het |
Ces1e |
A |
G |
8: 93,950,586 (GRCm39) |
F65S |
probably damaging |
Het |
Cfap53 |
A |
C |
18: 74,462,530 (GRCm39) |
S425R |
probably benign |
Het |
Corin |
A |
G |
5: 72,462,298 (GRCm39) |
V837A |
probably damaging |
Het |
Cyp2d34 |
A |
T |
15: 82,502,572 (GRCm39) |
V188E |
probably damaging |
Het |
Defb26 |
A |
T |
2: 152,349,878 (GRCm39) |
M134K |
unknown |
Het |
Dnah10 |
A |
C |
5: 124,862,220 (GRCm39) |
K2158N |
probably damaging |
Het |
Dnah9 |
C |
T |
11: 66,003,159 (GRCm39) |
V882M |
probably benign |
Het |
Elovl1 |
G |
A |
4: 118,288,124 (GRCm39) |
|
probably benign |
Het |
Fars2 |
T |
A |
13: 36,526,001 (GRCm39) |
I329N |
probably damaging |
Het |
Gstm1 |
T |
A |
3: 107,923,679 (GRCm39) |
M109L |
probably benign |
Het |
Gtf2e1 |
T |
C |
16: 37,356,293 (GRCm39) |
T80A |
probably damaging |
Het |
Gtf2h2 |
A |
G |
13: 100,618,356 (GRCm39) |
|
probably benign |
Het |
Hrh4 |
G |
T |
18: 13,148,870 (GRCm39) |
L77F |
probably damaging |
Het |
Ifi47 |
A |
G |
11: 48,986,559 (GRCm39) |
T109A |
probably benign |
Het |
Igsf5 |
G |
T |
16: 96,192,237 (GRCm39) |
E179* |
probably null |
Het |
Ints8 |
A |
G |
4: 11,211,916 (GRCm39) |
I885T |
probably damaging |
Het |
Iqgap1 |
T |
G |
7: 80,376,490 (GRCm39) |
I1341L |
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,269,219 (GRCm39) |
L2567P |
probably damaging |
Het |
Lilrb4a |
T |
C |
10: 51,369,303 (GRCm39) |
|
probably null |
Het |
Maip1 |
G |
A |
1: 57,446,131 (GRCm39) |
R67H |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,237,375 (GRCm39) |
I254F |
possibly damaging |
Het |
Nfkb1 |
A |
T |
3: 135,318,173 (GRCm39) |
|
probably null |
Het |
Nlrp4a |
T |
C |
7: 26,159,236 (GRCm39) |
|
probably null |
Het |
Nrap |
A |
T |
19: 56,308,655 (GRCm39) |
I1477N |
possibly damaging |
Het |
Pdgfa |
A |
G |
5: 138,979,049 (GRCm39) |
S52P |
probably benign |
Het |
Pou1f1 |
G |
T |
16: 65,328,868 (GRCm39) |
E196* |
probably null |
Het |
Ppp2r5e |
G |
A |
12: 75,640,045 (GRCm39) |
R19W |
probably damaging |
Het |
Ptn |
T |
A |
6: 36,721,419 (GRCm39) |
Q7L |
probably benign |
Het |
Rbp3 |
G |
T |
14: 33,676,807 (GRCm39) |
A252S |
probably damaging |
Het |
Rcor2 |
G |
T |
19: 7,251,426 (GRCm39) |
V313L |
probably damaging |
Het |
Rtp3 |
A |
T |
9: 110,815,195 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,787,323 (GRCm39) |
T1017A |
probably damaging |
Het |
Scgb2b11 |
T |
C |
7: 31,908,776 (GRCm39) |
N108S |
probably benign |
Het |
Sgo2b |
C |
A |
8: 64,396,171 (GRCm39) |
L28F |
probably damaging |
Het |
Shroom3 |
A |
G |
5: 93,112,432 (GRCm39) |
E1850G |
probably damaging |
Het |
Slc16a14 |
A |
G |
1: 84,890,612 (GRCm39) |
L231P |
probably benign |
Het |
Slfn5 |
A |
G |
11: 82,847,496 (GRCm39) |
E127G |
possibly damaging |
Het |
Snx16 |
C |
T |
3: 10,502,892 (GRCm39) |
M118I |
probably damaging |
Het |
Snx21 |
T |
C |
2: 164,633,741 (GRCm39) |
F176L |
probably damaging |
Het |
Tap2 |
A |
G |
17: 34,432,990 (GRCm39) |
N424S |
probably benign |
Het |
Tcf7l1 |
T |
C |
6: 72,613,449 (GRCm39) |
|
probably benign |
Het |
Trappc8 |
C |
T |
18: 20,951,247 (GRCm39) |
V1400I |
probably benign |
Het |
Trim58 |
T |
C |
11: 58,542,494 (GRCm39) |
Y485H |
possibly damaging |
Het |
U2af1l4 |
C |
T |
7: 30,263,638 (GRCm39) |
T65I |
probably benign |
Het |
Ufl1 |
G |
T |
4: 25,251,294 (GRCm39) |
|
probably benign |
Het |
Usp8 |
A |
G |
2: 126,593,031 (GRCm39) |
N762S |
probably damaging |
Het |
Virma |
A |
T |
4: 11,539,926 (GRCm39) |
D1465V |
probably benign |
Het |
Vmn1r48 |
A |
T |
6: 90,013,016 (GRCm39) |
S270T |
probably benign |
Het |
Vrk2 |
T |
A |
11: 26,541,697 (GRCm39) |
Y9F |
possibly damaging |
Het |
Wwp1 |
A |
G |
4: 19,631,057 (GRCm39) |
F659L |
probably damaging |
Het |
Zbtb24 |
C |
T |
10: 41,340,556 (GRCm39) |
Q529* |
probably null |
Het |
Zranb1 |
CTGATGATGATG |
CTGATGATGATGATG |
7: 132,584,556 (GRCm39) |
|
probably benign |
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 |
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'- TCAGAGGTTCAGAATAGTCAGTC -3'
(R):5'- CACCAGGGACAGTTTTACCTC -3'
Sequencing Primer
(F):5'- ACAACTCTGTCTTCTTTATGTGGAAC -3'
(R):5'- GGGACAGTTTTACCTCAATATTTTTG -3'
|
Posted On |
2016-07-06 |