Incidental Mutation 'R3011:Upp2'
| ID |
257497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Upp2
|
| Ensembl Gene |
ENSMUSG00000026839 |
| Gene Name |
uridine phosphorylase 2 |
| Synonyms |
UPASE2, UP2, UDRPASE2, 1700124F02Rik |
| MMRRC Submission |
040533-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R3011 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
58457310-58682983 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58680107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 293
(V293A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059102]
[ENSMUST00000071543]
[ENSMUST00000102755]
[ENSMUST00000229923]
[ENSMUST00000230627]
|
| AlphaFold |
Q8CGR7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059102
AA Change: V311A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000060437
Gene: ENSMUSG00000026839
AA Change: V311A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
78 |
328 |
6.4e-28 |
PFAM |
|
| Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000102755
AA Change: V293A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099816
Gene: ENSMUSG00000026839
AA Change: V293A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
60 |
310 |
4.2e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229923
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230627
AA Change: V259A
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1920 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
A |
C |
16: 38,422,269 (GRCm39) |
C1266G |
possibly damaging |
Het |
| Brme1 |
C |
A |
8: 84,893,539 (GRCm39) |
Y235* |
probably null |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,730,581 (GRCm39) |
T905M |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,428,975 (GRCm39) |
N469S |
probably benign |
Het |
| Commd3 |
T |
A |
2: 18,679,499 (GRCm39) |
V128D |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,088,695 (GRCm39) |
T253A |
probably damaging |
Het |
| Dnajc5b |
A |
T |
3: 19,600,966 (GRCm39) |
Y21F |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,373,720 (GRCm39) |
L660Q |
probably damaging |
Het |
| Gm14403 |
A |
G |
2: 177,200,786 (GRCm39) |
D244G |
probably benign |
Het |
| Gm5414 |
T |
C |
15: 101,534,047 (GRCm39) |
D312G |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,579,217 (GRCm39) |
S543G |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,604,262 (GRCm39) |
I50N |
probably damaging |
Het |
| Lct |
C |
T |
1: 128,229,109 (GRCm39) |
V795I |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,503,929 (GRCm39) |
T504S |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,453,771 (GRCm39) |
D887G |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,469,846 (GRCm39) |
D66V |
possibly damaging |
Het |
| Nqo1 |
C |
T |
8: 108,115,743 (GRCm39) |
R178H |
probably benign |
Het |
| Or13e8 |
G |
T |
4: 43,696,624 (GRCm39) |
A183E |
probably damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,350 (GRCm39) |
V31A |
probably benign |
Het |
| Otof |
G |
A |
5: 30,540,184 (GRCm39) |
A999V |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,129,946 (GRCm39) |
D506G |
probably benign |
Het |
| Pth2r |
C |
T |
1: 65,376,147 (GRCm39) |
H97Y |
probably benign |
Het |
| Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| Srgap2 |
T |
A |
1: 131,238,329 (GRCm39) |
Q520L |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tlr4 |
A |
T |
4: 66,757,491 (GRCm39) |
K95* |
probably null |
Het |
| Tmem59l |
A |
T |
8: 70,938,887 (GRCm39) |
C96S |
probably damaging |
Het |
| Tmtc3 |
G |
T |
10: 100,283,444 (GRCm39) |
P704T |
possibly damaging |
Het |
| Vps72 |
A |
G |
3: 95,026,585 (GRCm39) |
K177E |
probably damaging |
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 |
|
IGL03072:Upp2
|
APN |
2 |
58,645,435 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCGATTGCGTCTACATTAC -3'
(R):5'- ACTCGTTCCAAAATGGGATTTG -3'
Sequencing Primer
(F):5'- CGATTGCGTCTACATTACAGGGAAAC -3'
(R):5'- CCAAAATGGGATTTGAATTTCGC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation