Incidental Mutation 'R5786:Dpyd'
| ID |
448001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpyd
|
| Ensembl Gene |
ENSMUSG00000033308 |
| Gene Name |
dihydropyrimidine dehydrogenase |
| Synonyms |
E330028L06Rik, DPD |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5786 (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 T
at 119220886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 952
(M952I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
| AlphaFold |
Q8CHR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039177
AA Change: M952I
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: M952I
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
A |
6: 40,945,122 (GRCm39) |
D200E |
probably damaging |
Het |
| 4930578I06Rik |
C |
A |
14: 64,210,691 (GRCm39) |
R179L |
probably damaging |
Het |
| Abhd5 |
A |
G |
9: 122,192,868 (GRCm39) |
|
probably null |
Het |
| Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
| Ano5 |
G |
A |
7: 51,216,066 (GRCm39) |
D348N |
possibly damaging |
Het |
| Apob |
C |
T |
12: 8,065,304 (GRCm39) |
T4091I |
possibly damaging |
Het |
| Avil |
G |
A |
10: 126,852,368 (GRCm39) |
|
probably null |
Het |
| Cacna1a |
T |
C |
8: 85,142,350 (GRCm39) |
|
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,082,102 (GRCm39) |
L436P |
probably damaging |
Het |
| Ccdc33 |
A |
G |
9: 57,937,235 (GRCm39) |
S655P |
possibly damaging |
Het |
| Ccr6 |
T |
C |
17: 8,475,244 (GRCm39) |
S150P |
probably damaging |
Het |
| Cd1d1 |
T |
C |
3: 86,906,095 (GRCm39) |
N60S |
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,446,641 (GRCm39) |
|
probably null |
Het |
| Col15a1 |
A |
G |
4: 47,280,865 (GRCm39) |
E753G |
possibly damaging |
Het |
| Col1a2 |
C |
T |
6: 4,530,223 (GRCm39) |
R699W |
unknown |
Het |
| Cracd |
T |
C |
5: 77,014,043 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
T |
C |
15: 78,233,155 (GRCm39) |
Y821H |
probably damaging |
Het |
| Cyp3a11 |
A |
G |
5: 145,799,284 (GRCm39) |
I301T |
possibly damaging |
Het |
| Dpp3 |
C |
T |
19: 4,968,350 (GRCm39) |
G241R |
possibly damaging |
Het |
| Dsg3 |
A |
T |
18: 20,654,628 (GRCm39) |
I111L |
possibly damaging |
Het |
| Ect2 |
A |
G |
3: 27,201,102 (GRCm39) |
F123L |
probably damaging |
Het |
| Ehmt2 |
G |
C |
17: 35,129,719 (GRCm39) |
D961H |
probably damaging |
Het |
| Esp1 |
A |
G |
17: 41,041,809 (GRCm39) |
I34V |
probably benign |
Het |
| Fam171b |
G |
A |
2: 83,708,580 (GRCm39) |
V361I |
probably benign |
Het |
| Flnc |
T |
A |
6: 29,459,536 (GRCm39) |
Y2545* |
probably null |
Het |
| Fmo4 |
C |
T |
1: 162,631,286 (GRCm39) |
G227D |
probably benign |
Het |
| Grn |
C |
T |
11: 102,324,869 (GRCm39) |
Q153* |
probably null |
Het |
| H2-DMb1 |
T |
G |
17: 34,372,408 (GRCm39) |
S12R |
possibly damaging |
Het |
| Ica1 |
G |
T |
6: 8,672,391 (GRCm39) |
N203K |
possibly damaging |
Het |
| Kdm4c |
C |
A |
4: 74,277,722 (GRCm39) |
T792K |
probably damaging |
Het |
| Kif19a |
T |
A |
11: 114,670,049 (GRCm39) |
Y81* |
probably null |
Het |
| Kifc2 |
G |
T |
15: 76,548,578 (GRCm39) |
C440F |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,537,268 (GRCm39) |
T234A |
probably benign |
Het |
| Lysmd2 |
C |
A |
9: 75,542,885 (GRCm39) |
P164Q |
probably benign |
Het |
| Maea |
T |
A |
5: 33,526,027 (GRCm39) |
D234E |
probably benign |
Het |
| Map4k1 |
T |
A |
7: 28,699,445 (GRCm39) |
V572E |
probably damaging |
Het |
| Med6 |
C |
T |
12: 81,620,733 (GRCm39) |
G166R |
probably null |
Het |
| Mtmr10 |
T |
C |
7: 63,987,458 (GRCm39) |
I666T |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,262,887 (GRCm39) |
K1777M |
probably benign |
Het |
| Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,923,517 (GRCm39) |
S6461P |
probably damaging |
Het |
| Or1j4 |
T |
C |
2: 36,740,061 (GRCm39) |
M1T |
probably null |
Het |
| Osbpl7 |
T |
A |
11: 96,956,658 (GRCm39) |
V567E |
probably damaging |
Het |
| Rad51ap2 |
A |
T |
12: 11,506,921 (GRCm39) |
D281V |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpl24 |
C |
A |
16: 55,787,516 (GRCm39) |
H59N |
possibly damaging |
Het |
| Rtl1 |
G |
A |
12: 109,559,053 (GRCm39) |
L929F |
possibly damaging |
Het |
| Runx3 |
C |
T |
4: 134,890,575 (GRCm39) |
T159I |
probably damaging |
Het |
| Serpine2 |
T |
C |
1: 79,794,637 (GRCm39) |
I99V |
probably benign |
Het |
| Slc12a6 |
C |
A |
2: 112,115,067 (GRCm39) |
P12Q |
probably benign |
Het |
| Slc25a18 |
T |
C |
6: 120,769,035 (GRCm39) |
L184P |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,812,120 (GRCm39) |
D57G |
probably benign |
Het |
| Spdye4c |
T |
A |
2: 128,438,761 (GRCm39) |
*340K |
probably null |
Het |
| Srsf5 |
G |
A |
12: 80,996,311 (GRCm39) |
E162K |
possibly damaging |
Het |
| Ssc5d |
T |
C |
7: 4,939,817 (GRCm39) |
V751A |
probably benign |
Het |
| Tcf3 |
T |
C |
10: 80,255,333 (GRCm39) |
N157S |
probably benign |
Het |
| Tdrd7 |
T |
C |
4: 45,989,082 (GRCm39) |
V71A |
probably benign |
Het |
| Tex14 |
T |
C |
11: 87,405,121 (GRCm39) |
C678R |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,868,704 (GRCm39) |
K214* |
probably null |
Het |
| Vps53 |
A |
G |
11: 75,953,833 (GRCm39) |
I659T |
probably benign |
Het |
| Zfp597 |
A |
T |
16: 3,684,023 (GRCm39) |
C244* |
probably null |
Het |
| Zfp933 |
T |
A |
4: 147,912,864 (GRCm39) |
|
probably null |
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 |
|
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'- GCTCTGTAAGTAAACACAATACGG -3'
(R):5'- CACCAGTGCATTGTAAGCACC -3'
Sequencing Primer
(F):5'- CAATACGGTGTGAGGTCAAATTG -3'
(R):5'- GCATTGTAAGCACCTGTAATATGGAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation