Incidental Mutation 'R6046:Dpyd'
| ID |
483270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpyd
|
| Ensembl Gene |
ENSMUSG00000033308 |
| Gene Name |
dihydropyrimidine dehydrogenase |
| Synonyms |
E330028L06Rik, DPD |
| MMRRC Submission |
044214-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6046 (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 119225224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 999
(M999K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
| AlphaFold |
Q8CHR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039177
AA Change: M999K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: M999K
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (78/78) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
T |
C |
10: 85,223,947 (GRCm39) |
V252A |
unknown |
Het |
| Actn4 |
T |
C |
7: 28,604,044 (GRCm39) |
I406V |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Ank1 |
T |
A |
8: 23,606,114 (GRCm39) |
F1124I |
probably damaging |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Atp9a |
C |
A |
2: 168,476,790 (GRCm39) |
V1000L |
probably benign |
Het |
| Bnip3 |
A |
G |
7: 138,511,033 (GRCm39) |
|
probably benign |
Het |
| Btnl6 |
T |
A |
17: 34,727,371 (GRCm39) |
R386S |
probably damaging |
Het |
| Calcrl |
A |
G |
2: 84,205,658 (GRCm39) |
V11A |
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,863,571 (GRCm39) |
A597D |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,714,350 (GRCm39) |
T1960A |
probably benign |
Het |
| Cfb |
T |
A |
17: 35,081,078 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
G |
14: 52,458,528 (GRCm39) |
I860T |
possibly damaging |
Het |
| Col28a1 |
A |
G |
6: 8,168,102 (GRCm39) |
|
probably null |
Het |
| Crhr2 |
T |
A |
6: 55,068,277 (GRCm39) |
T428S |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,819,388 (GRCm39) |
I1753F |
probably damaging |
Het |
| Ctsq |
A |
T |
13: 61,186,955 (GRCm39) |
V46E |
probably benign |
Het |
| Cxcr1 |
T |
C |
1: 74,231,440 (GRCm39) |
E194G |
probably damaging |
Het |
| Dop1a |
A |
T |
9: 86,397,396 (GRCm39) |
H900L |
probably damaging |
Het |
| Gbp3 |
A |
C |
3: 142,273,560 (GRCm39) |
D369A |
possibly damaging |
Het |
| Glmp |
A |
G |
3: 88,232,495 (GRCm39) |
E36G |
probably damaging |
Het |
| Gm10113 |
T |
C |
13: 46,330,919 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6486 |
T |
A |
5: 3,120,846 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
T |
G |
1: 59,671,509 (GRCm39) |
L891R |
unknown |
Het |
| Heatr3 |
C |
T |
8: 88,866,582 (GRCm39) |
T8M |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,352,831 (GRCm39) |
M2106V |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,509 (GRCm39) |
|
probably null |
Het |
| Hspa14 |
A |
G |
2: 3,490,801 (GRCm39) |
V462A |
possibly damaging |
Het |
| Hspa5 |
C |
A |
2: 34,665,761 (GRCm39) |
T535K |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,274,563 (GRCm39) |
D745G |
probably benign |
Het |
| Ift27 |
A |
T |
15: 78,057,981 (GRCm39) |
C8S |
possibly damaging |
Het |
| Irak1bp1 |
G |
A |
9: 82,728,616 (GRCm39) |
W182* |
probably null |
Het |
| Itga3 |
A |
G |
11: 94,953,541 (GRCm39) |
I236T |
probably benign |
Het |
| Kctd15 |
T |
A |
7: 34,349,547 (GRCm39) |
N26Y |
possibly damaging |
Het |
| Kdm1b |
T |
C |
13: 47,232,729 (GRCm39) |
V733A |
possibly damaging |
Het |
| Lhx8 |
A |
T |
3: 154,027,340 (GRCm39) |
L234H |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,337,098 (GRCm39) |
T1225S |
probably damaging |
Het |
| Lrrn1 |
G |
A |
6: 107,545,488 (GRCm39) |
D429N |
probably benign |
Het |
| Mettl3 |
A |
T |
14: 52,536,243 (GRCm39) |
N200K |
possibly damaging |
Het |
| Mixl1 |
G |
T |
1: 180,524,336 (GRCm39) |
A81D |
possibly damaging |
Het |
| Mroh2b |
T |
C |
15: 4,980,763 (GRCm39) |
I1444T |
probably benign |
Het |
| Muc15 |
T |
A |
2: 110,561,786 (GRCm39) |
L74* |
probably null |
Het |
| Olfm2 |
T |
A |
9: 20,579,824 (GRCm39) |
Y317F |
probably damaging |
Het |
| Or52a33 |
C |
T |
7: 103,288,886 (GRCm39) |
V154M |
probably benign |
Het |
| Or5b114-ps1 |
G |
A |
19: 13,352,698 (GRCm39) |
S124N |
probably benign |
Het |
| Or5p54 |
T |
A |
7: 107,554,001 (GRCm39) |
I51N |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,763,302 (GRCm39) |
Y3925F |
unknown |
Het |
| Pik3c2g |
A |
T |
6: 139,599,137 (GRCm39) |
R84S |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,842,518 (GRCm39) |
Q449R |
probably damaging |
Het |
| Psg28 |
T |
C |
7: 18,160,305 (GRCm39) |
E297G |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,337,832 (GRCm39) |
|
probably benign |
Het |
| Rgs9 |
A |
G |
11: 109,130,386 (GRCm39) |
I363T |
probably damaging |
Het |
| Rnpepl1 |
A |
G |
1: 92,844,543 (GRCm39) |
D345G |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,658,023 (GRCm39) |
F726I |
probably damaging |
Het |
| Sart3 |
A |
T |
5: 113,893,507 (GRCm39) |
I330N |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,391,440 (GRCm39) |
D84G |
probably damaging |
Het |
| Sema4a |
T |
C |
3: 88,348,008 (GRCm39) |
T438A |
probably damaging |
Het |
| Sfxn1 |
A |
C |
13: 54,242,961 (GRCm39) |
Y73S |
probably benign |
Het |
| Slc24a2 |
A |
G |
4: 86,914,882 (GRCm39) |
M585T |
probably damaging |
Het |
| Slc26a7 |
A |
G |
4: 14,505,471 (GRCm39) |
V656A |
probably benign |
Het |
| Smok2a |
T |
G |
17: 13,445,021 (GRCm39) |
D199E |
probably benign |
Het |
| Tbc1d10c |
T |
C |
19: 4,235,030 (GRCm39) |
I344V |
probably benign |
Het |
| Tll1 |
A |
T |
8: 64,506,925 (GRCm39) |
Y605* |
probably null |
Het |
| Trim75 |
G |
A |
8: 65,435,535 (GRCm39) |
P305L |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,838,166 (GRCm39) |
N895S |
probably benign |
Het |
| Vmn2r25 |
A |
T |
6: 123,799,876 (GRCm39) |
I822N |
probably damaging |
Het |
| Wasf3 |
T |
G |
5: 146,407,166 (GRCm39) |
D495E |
unknown |
Het |
| Wdhd1 |
T |
A |
14: 47,510,667 (GRCm39) |
K119* |
probably null |
Het |
| Wnt2b |
T |
A |
3: 104,858,339 (GRCm39) |
D310V |
probably damaging |
Het |
| Zfat |
G |
T |
15: 68,052,626 (GRCm39) |
D389E |
probably damaging |
Het |
| Zfp282 |
G |
A |
6: 47,857,102 (GRCm39) |
V112M |
probably damaging |
Het |
| Zfp617 |
A |
T |
8: 72,687,257 (GRCm39) |
K529I |
probably damaging |
Het |
| Zfp866 |
A |
T |
8: 70,218,373 (GRCm39) |
C416S |
probably damaging |
Het |
| Zfp991 |
G |
A |
4: 147,264,222 (GRCm39) |
G533D |
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 |
|
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 |
|
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'- CTGTCATTGCATCCGTGTGG -3'
(R):5'- CACTGGCATTAGACATTGTTTTCC -3'
Sequencing Primer
(F):5'- ATTTGGTACTCTCCATGACTGG -3'
(R):5'- TGGAAAGAACTGATCATAATGA -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation