Incidental Mutation 'R5116:Upp2'
| ID |
394175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Upp2
|
| Ensembl Gene |
ENSMUSG00000026839 |
| Gene Name |
uridine phosphorylase 2 |
| Synonyms |
UPASE2, UP2, UDRPASE2, 1700124F02Rik |
| MMRRC Submission |
042704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R5116 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
58457310-58682983 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58661554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 67
(Y67C)
|
| 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: Y119C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060437
Gene: ENSMUSG00000026839
AA Change: Y119C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
78 |
328 |
6.4e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071543
AA Change: Y139C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071474
Gene: ENSMUSG00000026839
AA Change: Y139C
| 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: Y101C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099816
Gene: ENSMUSG00000026839
AA Change: Y101C
| 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: Y101C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230627
AA Change: Y67C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.7947 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.5%
|
| Validation Efficiency |
97% (59/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,216,930 (GRCm39) |
H429R |
probably damaging |
Het |
| Adam39 |
G |
T |
8: 41,278,038 (GRCm39) |
C143F |
probably damaging |
Het |
| Adamts19 |
T |
C |
18: 59,036,066 (GRCm39) |
V417A |
possibly damaging |
Het |
| Adcy10 |
C |
A |
1: 165,347,069 (GRCm39) |
A362E |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,188,298 (GRCm39) |
E1904G |
probably benign |
Het |
| Aldh18a1 |
A |
G |
19: 40,541,949 (GRCm39) |
M89T |
probably benign |
Het |
| Alyref |
G |
T |
11: 120,488,554 (GRCm39) |
F91L |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,315,773 (GRCm39) |
M248I |
probably benign |
Het |
| Catsper4 |
A |
T |
4: 133,953,991 (GRCm39) |
I56N |
probably damaging |
Het |
| Cckbr |
T |
A |
7: 105,082,862 (GRCm39) |
I75N |
probably damaging |
Het |
| Ccr8 |
T |
C |
9: 119,923,095 (GRCm39) |
I70T |
probably benign |
Het |
| Cdh24 |
T |
C |
14: 54,873,870 (GRCm39) |
D428G |
probably benign |
Het |
| Cdk5rap2 |
G |
T |
4: 70,225,475 (GRCm39) |
Q557K |
possibly damaging |
Het |
| Clip1 |
C |
T |
5: 123,768,770 (GRCm39) |
A610T |
probably benign |
Het |
| Dnajc16 |
A |
T |
4: 141,495,280 (GRCm39) |
Y479* |
probably null |
Het |
| Fpr-rs3 |
A |
G |
17: 20,844,562 (GRCm39) |
V193A |
probably benign |
Het |
| Gm29125 |
T |
C |
1: 80,361,690 (GRCm39) |
|
noncoding transcript |
Het |
| H1f4 |
A |
G |
13: 23,806,270 (GRCm39) |
Y71H |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,505,549 (GRCm39) |
|
probably benign |
Het |
| Immp1l |
G |
A |
2: 105,795,640 (GRCm39) |
R155H |
probably benign |
Het |
| Itgad |
C |
A |
7: 127,803,065 (GRCm39) |
T7K |
probably damaging |
Het |
| Itgb3 |
T |
C |
11: 104,531,903 (GRCm39) |
V370A |
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,012,310 (GRCm39) |
I1053T |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,080,521 (GRCm39) |
R572G |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,994,556 (GRCm39) |
D1784E |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,856,511 (GRCm39) |
V651D |
probably damaging |
Het |
| Mrpl47 |
A |
G |
3: 32,787,750 (GRCm39) |
L100S |
probably damaging |
Het |
| Mx1 |
T |
G |
16: 97,258,679 (GRCm39) |
N6T |
possibly damaging |
Het |
| Nde1 |
T |
A |
16: 14,001,351 (GRCm39) |
M133K |
probably benign |
Het |
| Nlrc5 |
T |
C |
8: 95,208,488 (GRCm39) |
L778P |
probably damaging |
Het |
| Odad3 |
A |
G |
9: 21,901,424 (GRCm39) |
*595Q |
probably null |
Het |
| Or52e19b |
G |
A |
7: 103,033,071 (GRCm39) |
T46I |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,779,873 (GRCm39) |
R235C |
probably benign |
Het |
| Or6c3b |
A |
G |
10: 129,527,266 (GRCm39) |
S215P |
probably damaging |
Het |
| Or7g32 |
A |
G |
9: 19,389,094 (GRCm39) |
S151P |
possibly damaging |
Het |
| Or8b38 |
T |
C |
9: 37,972,634 (GRCm39) |
V6A |
probably benign |
Het |
| Otog |
T |
C |
7: 45,923,191 (GRCm39) |
V1022A |
probably benign |
Het |
| Pcdhac1 |
G |
A |
18: 37,224,500 (GRCm39) |
V438M |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,440,798 (GRCm39) |
S1264F |
possibly damaging |
Het |
| Pfas |
T |
C |
11: 68,881,816 (GRCm39) |
|
probably benign |
Het |
| Pigr |
T |
A |
1: 130,776,768 (GRCm39) |
F648I |
probably benign |
Het |
| Pla2r1 |
A |
C |
2: 60,279,250 (GRCm39) |
Y777D |
probably damaging |
Het |
| Pnpla7 |
G |
T |
2: 24,911,982 (GRCm39) |
G716V |
probably damaging |
Het |
| Rab11fip5 |
C |
T |
6: 85,325,789 (GRCm39) |
E206K |
probably damaging |
Het |
| S100a10 |
A |
G |
3: 93,468,247 (GRCm39) |
|
probably null |
Het |
| Slc35f1 |
T |
C |
10: 52,897,991 (GRCm39) |
I134T |
probably benign |
Het |
| Smarcd1 |
C |
T |
15: 99,600,369 (GRCm39) |
A56V |
probably benign |
Het |
| Snrk |
A |
G |
9: 121,989,396 (GRCm39) |
T247A |
probably benign |
Het |
| Srgap1 |
A |
G |
10: 121,628,284 (GRCm39) |
L896P |
possibly damaging |
Het |
| Tmem19 |
A |
T |
10: 115,179,651 (GRCm39) |
F167I |
probably benign |
Het |
| Tmprss11f |
T |
C |
5: 86,687,555 (GRCm39) |
S118G |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,885,452 (GRCm39) |
|
probably null |
Het |
| Trem3 |
T |
C |
17: 48,556,580 (GRCm39) |
L17P |
probably benign |
Het |
| Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
probably benign |
Het |
| Zfp932 |
T |
A |
5: 110,157,242 (GRCm39) |
D280E |
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 |
|
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 |
|
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 |
|
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'- CGTTAGAACTGAATGCTACCCC -3'
(R):5'- AAGGAAGTAGTGACCCTGCG -3'
Sequencing Primer
(F):5'- AGAACTGAATGCTACCCCCTTTG -3'
(R):5'- AAGTAGTGACCCTGCGTGCTC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation