Incidental Mutation 'R4257:Upp2'
ID |
321848 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Upp2
|
Ensembl Gene |
ENSMUSG00000026839 |
Gene Name |
uridine phosphorylase 2 |
Synonyms |
UPASE2, UP2, UDRPASE2, 1700124F02Rik |
MMRRC Submission |
041070-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R4257 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
58457310-58682983 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58670106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 219
(I219F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059102]
[ENSMUST00000071543]
[ENSMUST00000102755]
[ENSMUST00000229923]
[ENSMUST00000230627]
|
AlphaFold |
Q8CGR7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059102
AA Change: I271F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060437 Gene: ENSMUSG00000026839 AA Change: I271F
Domain | Start | End | E-Value | Type |
Pfam:PNP_UDP_1
|
78 |
328 |
6.4e-28 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071543
AA Change: I291F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071474 Gene: ENSMUSG00000026839 AA Change: I291F
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: I253F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099816 Gene: ENSMUSG00000026839 AA Change: I253F
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 damaging
Transcript: ENSMUST00000229923
AA Change: I253F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230627
AA Change: I219F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.5781 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930451I11Rik |
C |
T |
7: 126,430,662 (GRCm39) |
|
probably benign |
Het |
4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
Akap13 |
T |
A |
7: 75,261,033 (GRCm39) |
I1219K |
probably damaging |
Het |
Arfgef1 |
T |
C |
1: 10,229,771 (GRCm39) |
|
probably benign |
Het |
Arhgap24 |
A |
G |
5: 102,811,983 (GRCm39) |
E70G |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Babam2 |
T |
C |
5: 31,859,414 (GRCm39) |
S40P |
possibly damaging |
Het |
Brwd1 |
A |
G |
16: 95,824,696 (GRCm39) |
V1190A |
probably damaging |
Het |
Ccpg1 |
A |
G |
9: 72,919,909 (GRCm39) |
E508G |
probably damaging |
Het |
Ckm |
T |
C |
7: 19,155,279 (GRCm39) |
S372P |
probably benign |
Het |
Egflam |
T |
A |
15: 7,283,907 (GRCm39) |
|
probably null |
Het |
Farp1 |
G |
A |
14: 121,492,891 (GRCm39) |
V498M |
probably benign |
Het |
Galnt14 |
T |
A |
17: 73,811,899 (GRCm39) |
I441F |
probably benign |
Het |
Gm5414 |
A |
G |
15: 101,533,107 (GRCm39) |
L440P |
probably damaging |
Het |
Gm6563 |
A |
G |
19: 23,653,339 (GRCm39) |
E43G |
possibly damaging |
Het |
Gm9755 |
A |
T |
8: 67,967,129 (GRCm39) |
|
noncoding transcript |
Het |
Gmds |
A |
G |
13: 32,004,172 (GRCm39) |
S337P |
possibly damaging |
Het |
L3mbtl3 |
T |
A |
10: 26,156,020 (GRCm39) |
Q754L |
unknown |
Het |
Ltk |
G |
A |
2: 119,583,485 (GRCm39) |
T300I |
possibly damaging |
Het |
Or5d46 |
A |
C |
2: 88,170,621 (GRCm39) |
K237N |
probably damaging |
Het |
Pbx2 |
C |
A |
17: 34,813,619 (GRCm39) |
H184Q |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,327,083 (GRCm39) |
F339S |
probably damaging |
Het |
Prkaa2 |
A |
T |
4: 104,897,153 (GRCm39) |
D353E |
probably benign |
Het |
Prss36 |
G |
A |
7: 127,532,010 (GRCm39) |
|
probably benign |
Het |
Rimbp2 |
A |
G |
5: 128,851,324 (GRCm39) |
V874A |
probably damaging |
Het |
Rspo2 |
C |
A |
15: 42,939,307 (GRCm39) |
R161L |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,781,875 (GRCm39) |
D2038G |
possibly damaging |
Het |
Stkld1 |
A |
G |
2: 26,833,146 (GRCm39) |
M111V |
probably benign |
Het |
Tprn |
A |
G |
2: 25,154,494 (GRCm39) |
I599V |
probably damaging |
Het |
Vmn2r94 |
A |
T |
17: 18,464,433 (GRCm39) |
F619Y |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,346,383 (GRCm39) |
T2875A |
probably benign |
Het |
Zfp64 |
A |
G |
2: 168,768,298 (GRCm39) |
L438P |
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 |
|
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 |
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'- AAGCAGACAGCCTTCTGAGG -3'
(R):5'- TGATGGGAGCAGTGTCCTAC -3'
Sequencing Primer
(F):5'- AGCCTTCTGAGGATGCTTCTGC -3'
(R):5'- TACCCGCTCACAAATCTCTATGAG -3'
|
Posted On |
2015-06-20 |