Incidental Mutation 'R0094:Rpa2'
| ID |
63998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpa2
|
| Ensembl Gene |
ENSMUSG00000028884 |
| Gene Name |
replication protein A2 |
| Synonyms |
RPA34, 30-kDa protein, Rf-A2 |
| MMRRC Submission |
038380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R0094 (G1)
|
| Quality Score |
107 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
132495671-132506057 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132497893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 52
(S52P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102561]
[ENSMUST00000156968]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102561
AA Change: S52P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099621
Gene: ENSMUSG00000028884
AA Change: S52P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
Pfam:RPA_C
|
166 |
262 |
1.7e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130090
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130444
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133415
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153046
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156968
|
| SMART Domains |
Protein: ENSMUSP00000123780
Gene: ENSMUSG00000028884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPA_C
|
1 |
70 |
3.6e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.1634 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
T |
A |
9: 46,218,184 (GRCm39) |
T185S |
possibly damaging |
Het |
| Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
| Ap5z1 |
G |
A |
5: 142,462,567 (GRCm39) |
V626M |
probably benign |
Het |
| Cacna2d3 |
C |
T |
14: 28,892,460 (GRCm39) |
|
probably null |
Het |
| Cfap77 |
A |
T |
2: 28,874,446 (GRCm39) |
V128D |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,075,802 (GRCm39) |
V483A |
probably damaging |
Het |
| Dcdc2b |
T |
C |
4: 129,504,104 (GRCm39) |
|
probably null |
Het |
| Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
| Dtx1 |
A |
G |
5: 120,820,689 (GRCm39) |
Y455H |
probably damaging |
Het |
| Frmpd1 |
C |
A |
4: 45,284,899 (GRCm39) |
S1240* |
probably null |
Het |
| Gypa |
T |
A |
8: 81,227,560 (GRCm39) |
H69Q |
unknown |
Het |
| Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
| Mroh7 |
C |
T |
4: 106,560,381 (GRCm39) |
G641E |
probably damaging |
Het |
| Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
| Pigs |
T |
A |
11: 78,230,864 (GRCm39) |
N370K |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
| Rfc4 |
G |
T |
16: 22,934,178 (GRCm39) |
Q208K |
probably benign |
Het |
| Sirpb1c |
G |
T |
3: 15,892,922 (GRCm39) |
T94K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,828,770 (GRCm39) |
N1136K |
probably damaging |
Het |
| Spp2 |
T |
A |
1: 88,348,402 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,819 (GRCm39) |
H134R |
probably damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,661,722 (GRCm39) |
R698G |
probably benign |
Het |
|
| Other mutations in Rpa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01986:Rpa2
|
APN |
4 |
132,499,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01986:Rpa2
|
APN |
4 |
132,499,191 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03011:Rpa2
|
APN |
4 |
132,502,358 (GRCm39) |
missense |
probably benign |
|
|
R0062:Rpa2
|
UTSW |
4 |
132,505,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Rpa2
|
UTSW |
4 |
132,505,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0094:Rpa2
|
UTSW |
4 |
132,497,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Rpa2
|
UTSW |
4 |
132,499,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1812:Rpa2
|
UTSW |
4 |
132,495,996 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2126:Rpa2
|
UTSW |
4 |
132,496,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3051:Rpa2
|
UTSW |
4 |
132,502,437 (GRCm39) |
splice site |
probably null |
|
|
R4010:Rpa2
|
UTSW |
4 |
132,497,960 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4223:Rpa2
|
UTSW |
4 |
132,504,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Rpa2
|
UTSW |
4 |
132,505,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5406:Rpa2
|
UTSW |
4 |
132,503,559 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6190:Rpa2
|
UTSW |
4 |
132,502,331 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6413:Rpa2
|
UTSW |
4 |
132,501,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7572:Rpa2
|
UTSW |
4 |
132,496,014 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8503:Rpa2
|
UTSW |
4 |
132,501,180 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8555:Rpa2
|
UTSW |
4 |
132,499,481 (GRCm39) |
splice site |
probably null |
|
|
R9021:Rpa2
|
UTSW |
4 |
132,499,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9024:Rpa2
|
UTSW |
4 |
132,499,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCCGTGTATAGTAGCACACACTC -3'
(R):5'- ATGAGCAATGCCCTTGCTGGAG -3'
Sequencing Primer
(F):5'- ggagggagaggaagatgaaac -3'
(R):5'- acaggacccaggggaag -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation