Incidental Mutation 'IGL03072:Upp2'
| ID |
417563 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Upp2
|
| Ensembl Gene |
ENSMUSG00000026839 |
| Gene Name |
uridine phosphorylase 2 |
| Synonyms |
UPASE2, UP2, UDRPASE2, 1700124F02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
IGL03072
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
58457310-58682983 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 58645435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059102]
[ENSMUST00000071543]
[ENSMUST00000102755]
[ENSMUST00000229923]
[ENSMUST00000230627]
|
| AlphaFold |
Q8CGR7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000059102
|
| SMART Domains |
Protein: ENSMUSP00000060437
Gene: ENSMUSG00000026839
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
78 |
328 |
6.4e-28 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000071543
|
| SMART Domains |
Protein: ENSMUSP00000071474
Gene: ENSMUSG00000026839
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:PNP_UDP_1
|
98 |
316 |
7.1e-26 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102755
|
| SMART Domains |
Protein: ENSMUSP00000099816
Gene: ENSMUSG00000026839
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
60 |
310 |
4.2e-29 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229923
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230627
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
G |
A |
13: 77,408,116 (GRCm39) |
V148I |
probably benign |
Het |
| Ahcyl2 |
T |
C |
6: 29,906,500 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,983,872 (GRCm39) |
S1719P |
probably benign |
Het |
| C2cd5 |
A |
G |
6: 143,025,609 (GRCm39) |
I196T |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,874,474 (GRCm39) |
I849V |
probably benign |
Het |
| Cpsf3 |
A |
G |
12: 21,345,089 (GRCm39) |
K134E |
possibly damaging |
Het |
| Dnai1 |
A |
G |
4: 41,602,979 (GRCm39) |
T161A |
probably benign |
Het |
| Gm17093 |
G |
T |
14: 44,758,129 (GRCm39) |
|
probably benign |
Het |
| Igf2bp2 |
A |
G |
16: 21,886,891 (GRCm39) |
|
probably null |
Het |
| Lcor |
T |
C |
19: 41,547,253 (GRCm39) |
V279A |
possibly damaging |
Het |
| Myo9a |
C |
A |
9: 59,716,725 (GRCm39) |
T475K |
possibly damaging |
Het |
| Nat8f4 |
A |
G |
6: 85,877,836 (GRCm39) |
|
probably benign |
Het |
| Neto1 |
A |
G |
18: 86,516,714 (GRCm39) |
T344A |
probably benign |
Het |
| Or6c203 |
A |
T |
10: 129,010,358 (GRCm39) |
D177E |
probably damaging |
Het |
| Or7c19 |
A |
G |
8: 85,957,139 (GRCm39) |
N5S |
probably benign |
Het |
| Or8k17 |
A |
T |
2: 86,066,804 (GRCm39) |
M118K |
probably damaging |
Het |
| Pde8a |
A |
T |
7: 80,958,557 (GRCm39) |
I312F |
probably damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,581,793 (GRCm39) |
I74T |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,216,004 (GRCm39) |
|
probably benign |
Het |
| Psg29 |
T |
C |
7: 16,942,719 (GRCm39) |
V240A |
probably benign |
Het |
| Reep4 |
T |
C |
14: 70,785,675 (GRCm39) |
S238P |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tmprss5 |
T |
A |
9: 49,020,318 (GRCm39) |
N99K |
possibly damaging |
Het |
| Tph1 |
G |
A |
7: 46,302,283 (GRCm39) |
T313M |
probably damaging |
Het |
| Tprn |
T |
C |
2: 25,154,530 (GRCm39) |
S611P |
probably damaging |
Het |
| Vezt |
C |
A |
10: 93,809,895 (GRCm39) |
A549S |
probably damaging |
Het |
| Zfp786 |
A |
G |
6: 47,798,177 (GRCm39) |
Y254H |
probably benign |
Het |
|
| Other mutations in Upp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00863:Upp2
|
APN |
2 |
58,680,076 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01716:Upp2
|
APN |
2 |
58,680,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02069:Upp2
|
APN |
2 |
58,661,429 (GRCm39) |
splice site |
probably benign |
|
|
IGL02349:Upp2
|
APN |
2 |
58,667,898 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0815:Upp2
|
UTSW |
2 |
58,661,568 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1164:Upp2
|
UTSW |
2 |
58,653,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1400:Upp2
|
UTSW |
2 |
58,680,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Upp2
|
UTSW |
2 |
58,680,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Upp2
|
UTSW |
2 |
58,664,177 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1674:Upp2
|
UTSW |
2 |
58,680,076 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1702:Upp2
|
UTSW |
2 |
58,661,562 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1902:Upp2
|
UTSW |
2 |
58,661,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2351:Upp2
|
UTSW |
2 |
58,653,674 (GRCm39) |
splice site |
probably null |
|
|
R3011:Upp2
|
UTSW |
2 |
58,680,107 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3622:Upp2
|
UTSW |
2 |
58,680,128 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3623:Upp2
|
UTSW |
2 |
58,680,128 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3731:Upp2
|
UTSW |
2 |
58,645,379 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4257:Upp2
|
UTSW |
2 |
58,670,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4296:Upp2
|
UTSW |
2 |
58,668,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4768:Upp2
|
UTSW |
2 |
58,667,907 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5116:Upp2
|
UTSW |
2 |
58,661,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5638:Upp2
|
UTSW |
2 |
58,680,107 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7100:Upp2
|
UTSW |
2 |
58,681,817 (GRCm39) |
missense |
probably benign |
|
|
R7421:Upp2
|
UTSW |
2 |
58,661,586 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7727:Upp2
|
UTSW |
2 |
58,664,160 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7840:Upp2
|
UTSW |
2 |
58,664,127 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8033:Upp2
|
UTSW |
2 |
58,670,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8359:Upp2
|
UTSW |
2 |
58,667,955 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8461:Upp2
|
UTSW |
2 |
58,670,068 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8510:Upp2
|
UTSW |
2 |
58,670,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Upp2
|
UTSW |
2 |
58,457,454 (GRCm39) |
unclassified |
probably benign |
|
|
R9086:Upp2
|
UTSW |
2 |
58,680,177 (GRCm39) |
nonsense |
probably null |
|
|
R9099:Upp2
|
UTSW |
2 |
58,457,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9130:Upp2
|
UTSW |
2 |
58,668,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9159:Upp2
|
UTSW |
2 |
58,667,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9209:Upp2
|
UTSW |
2 |
58,668,022 (GRCm39) |
nonsense |
probably null |
|
|
R9215:Upp2
|
UTSW |
2 |
58,670,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9293:Upp2
|
UTSW |
2 |
58,457,443 (GRCm39) |
missense |
unknown |
|
|
R9343:Upp2
|
UTSW |
2 |
58,645,339 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Upp2
|
UTSW |
2 |
58,670,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation