Incidental Mutation 'R0267:Dpyd'
ID |
34980 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpyd
|
Ensembl Gene |
ENSMUSG00000033308 |
Gene Name |
dihydropyrimidine dehydrogenase |
Synonyms |
E330028L06Rik, DPD |
MMRRC Submission |
038493-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0267 (G1)
|
Quality Score |
188 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
118355778-119226573 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 118710921 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 443
(E443G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
AlphaFold |
Q8CHR6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039177
AA Change: E443G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000039429 Gene: ENSMUSG00000033308 AA Change: E443G
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: 98.6%
- 3x: 97.7%
- 10x: 96.2%
- 20x: 94.0%
|
Validation Efficiency |
97% (64/66) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,046,105 (GRCm39) |
F1721S |
probably damaging |
Het |
Adgrb1 |
G |
A |
15: 74,401,238 (GRCm39) |
R78H |
probably damaging |
Het |
Adgrd1 |
G |
A |
5: 129,216,658 (GRCm39) |
A342T |
probably benign |
Het |
Adrb1 |
A |
T |
19: 56,711,923 (GRCm39) |
K374* |
probably null |
Het |
Aldh18a1 |
C |
A |
19: 40,562,233 (GRCm39) |
V264F |
probably benign |
Het |
Aldh1l2 |
C |
T |
10: 83,358,551 (GRCm39) |
|
probably benign |
Het |
Alox15 |
T |
A |
11: 70,236,979 (GRCm39) |
H393L |
probably damaging |
Het |
Aox1 |
A |
G |
1: 58,378,605 (GRCm39) |
|
probably benign |
Het |
Appbp2 |
T |
C |
11: 85,092,288 (GRCm39) |
Y297C |
probably damaging |
Het |
Atxn2l |
T |
G |
7: 126,092,379 (GRCm39) |
Q950P |
probably damaging |
Het |
Bicd1 |
A |
T |
6: 149,418,540 (GRCm39) |
D737V |
probably damaging |
Het |
C9 |
T |
C |
15: 6,496,939 (GRCm39) |
I212T |
probably benign |
Het |
Ccdc63 |
A |
T |
5: 122,255,107 (GRCm39) |
|
probably benign |
Het |
Chst1 |
C |
A |
2: 92,443,951 (GRCm39) |
P141Q |
probably damaging |
Het |
Cped1 |
T |
A |
6: 22,119,475 (GRCm39) |
F311L |
probably damaging |
Het |
D6Wsu163e |
T |
A |
6: 126,923,454 (GRCm39) |
H113Q |
probably benign |
Het |
Dcn |
A |
T |
10: 97,342,345 (GRCm39) |
|
probably benign |
Het |
Dmbx1 |
C |
T |
4: 115,775,309 (GRCm39) |
A324T |
probably benign |
Het |
Dock10 |
G |
T |
1: 80,490,171 (GRCm39) |
Q1618K |
probably damaging |
Het |
Espl1 |
T |
C |
15: 102,221,452 (GRCm39) |
V953A |
possibly damaging |
Het |
Exosc10 |
T |
C |
4: 148,647,213 (GRCm39) |
L174P |
probably damaging |
Het |
Foxg1 |
A |
G |
12: 49,432,365 (GRCm39) |
Y366C |
probably damaging |
Het |
Fxyd3 |
T |
C |
7: 30,770,159 (GRCm39) |
|
probably benign |
Het |
Gbp2 |
T |
C |
3: 142,335,867 (GRCm39) |
V189A |
probably benign |
Het |
Gins4 |
T |
C |
8: 23,719,426 (GRCm39) |
|
probably benign |
Het |
Gm12789 |
A |
G |
4: 101,845,319 (GRCm39) |
T3A |
probably benign |
Het |
Gnb1l |
T |
C |
16: 18,366,839 (GRCm39) |
|
probably benign |
Het |
Gtpbp3 |
T |
C |
8: 71,944,141 (GRCm39) |
L295S |
probably damaging |
Het |
Hrh4 |
C |
A |
18: 13,155,455 (GRCm39) |
Y331* |
probably null |
Het |
Hsd11b1 |
A |
T |
1: 192,923,705 (GRCm39) |
Y52N |
probably damaging |
Het |
Jam3 |
A |
G |
9: 27,017,701 (GRCm39) |
I29T |
probably benign |
Het |
Kctd16 |
T |
A |
18: 40,663,930 (GRCm39) |
I353N |
probably benign |
Het |
Lama4 |
G |
T |
10: 38,904,635 (GRCm39) |
G246C |
probably damaging |
Het |
Lhx3 |
T |
A |
2: 26,093,040 (GRCm39) |
M137L |
probably benign |
Het |
Morc2a |
T |
C |
11: 3,628,567 (GRCm39) |
I340T |
probably benign |
Het |
Myo7a |
A |
C |
7: 97,703,831 (GRCm39) |
I1969S |
probably benign |
Het |
Or14a258 |
T |
C |
7: 86,035,475 (GRCm39) |
E131G |
possibly damaging |
Het |
Or5b116 |
T |
A |
19: 13,422,792 (GRCm39) |
C139S |
probably damaging |
Het |
Or6n1 |
A |
G |
1: 173,916,732 (GRCm39) |
N42S |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,731,194 (GRCm39) |
L3232P |
unknown |
Het |
Polr1a |
T |
G |
6: 71,951,123 (GRCm39) |
I1407M |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,656,722 (GRCm39) |
V817A |
probably damaging |
Het |
Rbfox3 |
T |
C |
11: 118,386,066 (GRCm39) |
T280A |
probably benign |
Het |
Rfx3 |
T |
C |
19: 27,771,188 (GRCm39) |
D521G |
probably benign |
Het |
Scn5a |
C |
T |
9: 119,372,201 (GRCm39) |
V223I |
probably damaging |
Het |
Sgsm3 |
T |
G |
15: 80,890,803 (GRCm39) |
M119R |
probably damaging |
Het |
Slc6a7 |
T |
A |
18: 61,129,783 (GRCm39) |
M608L |
probably benign |
Het |
Slit2 |
A |
G |
5: 48,339,673 (GRCm39) |
|
probably benign |
Het |
Steap2 |
T |
A |
5: 5,723,561 (GRCm39) |
I440F |
probably benign |
Het |
Syn2 |
T |
G |
6: 115,231,111 (GRCm39) |
|
probably benign |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Tfb2m |
G |
A |
1: 179,361,203 (GRCm39) |
H262Y |
probably benign |
Het |
Trmt1l |
A |
G |
1: 151,333,426 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
C |
A |
19: 18,800,742 (GRCm39) |
P819T |
probably benign |
Het |
Ttn |
G |
A |
2: 76,574,033 (GRCm39) |
A25620V |
probably damaging |
Het |
Ubn2 |
T |
C |
6: 38,459,553 (GRCm39) |
|
probably null |
Het |
Vars1 |
T |
C |
17: 35,230,572 (GRCm39) |
|
probably benign |
Het |
Vip |
A |
T |
10: 5,594,004 (GRCm39) |
D119V |
possibly damaging |
Het |
Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
Vps33b |
T |
C |
7: 79,935,802 (GRCm39) |
I405T |
possibly damaging |
Het |
Zbtb21 |
T |
A |
16: 97,753,300 (GRCm39) |
S356C |
probably damaging |
Het |
Zdhhc6 |
A |
T |
19: 55,297,362 (GRCm39) |
S237T |
probably benign |
Het |
Zfp142 |
G |
A |
1: 74,615,223 (GRCm39) |
A427V |
probably benign |
Het |
Zfp692 |
T |
A |
11: 58,205,140 (GRCm39) |
V463E |
possibly damaging |
Het |
Zmynd8 |
A |
T |
2: 165,670,322 (GRCm39) |
I384N |
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 |
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 |
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'- GCAAGCAGATAATGCCTGAAACTCATC -3'
(R):5'- AGACCTTTTGAATCAAAATCGCTCGC -3'
Sequencing Primer
(F):5'- CCTGAAACTCATCTATGGTGGAAAAG -3'
(R):5'- TCGCTCGCAGTACATACAAG -3'
|
Posted On |
2013-05-09 |