Incidental Mutation 'R6413:Rpa2'
| ID |
514806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpa2
|
| Ensembl Gene |
ENSMUSG00000028884 |
| Gene Name |
replication protein A2 |
| Synonyms |
RPA34, 30-kDa protein, Rf-A2 |
| MMRRC Submission |
044555-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R6413 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
132495671-132506057 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 132501156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 118
(A118S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102561]
[ENSMUST00000156968]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102561
AA Change: A118S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099621
Gene: ENSMUSG00000028884
AA Change: A118S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
C |
A |
13: 119,624,647 (GRCm39) |
|
probably benign |
Het |
| Agtpbp1 |
A |
G |
13: 59,647,834 (GRCm39) |
V662A |
possibly damaging |
Het |
| Ambra1 |
T |
G |
2: 91,599,429 (GRCm39) |
V183G |
possibly damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,377,290 (GRCm39) |
S208P |
probably damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,417,654 (GRCm39) |
V133I |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,592,129 (GRCm39) |
K805R |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,182,583 (GRCm39) |
Q270R |
probably benign |
Het |
| Cabp2 |
G |
A |
19: 4,135,698 (GRCm39) |
|
probably null |
Het |
| Ccnt1 |
A |
G |
15: 98,441,850 (GRCm39) |
S473P |
probably benign |
Het |
| Cenpt |
G |
A |
8: 106,572,973 (GRCm39) |
P373S |
possibly damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,731,254 (GRCm39) |
D182V |
probably damaging |
Het |
| Ddx54 |
A |
G |
5: 120,765,127 (GRCm39) |
T799A |
probably benign |
Het |
| Dtna |
T |
A |
18: 23,755,071 (GRCm39) |
D464E |
probably damaging |
Het |
| E030025P04Rik |
T |
C |
11: 109,030,425 (GRCm39) |
Y154C |
unknown |
Het |
| Ephb2 |
C |
A |
4: 136,498,433 (GRCm39) |
E215D |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,992,724 (GRCm39) |
D445G |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,127,683 (GRCm39) |
L2198F |
unknown |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Klhl22 |
T |
C |
16: 17,607,181 (GRCm39) |
F496L |
probably benign |
Het |
| Numa1 |
A |
T |
7: 101,639,778 (GRCm39) |
|
probably null |
Het |
| Papola |
T |
C |
12: 105,772,763 (GRCm39) |
|
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,607,440 (GRCm39) |
E1255G |
probably damaging |
Het |
| Rgs8 |
A |
T |
1: 153,568,619 (GRCm39) |
D168V |
probably damaging |
Het |
| Rlf |
A |
G |
4: 121,004,522 (GRCm39) |
V1486A |
probably damaging |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Serpina1f |
T |
A |
12: 103,659,953 (GRCm39) |
I110F |
probably damaging |
Het |
| Serpini2 |
T |
C |
3: 75,166,921 (GRCm39) |
Y112C |
probably damaging |
Het |
| Sh2b3 |
A |
G |
5: 121,966,986 (GRCm39) |
Y43H |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,963,955 (GRCm39) |
E514G |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,963,387 (GRCm39) |
F388S |
probably benign |
Het |
| Spmip6 |
A |
T |
4: 41,505,135 (GRCm39) |
V196D |
possibly damaging |
Het |
| Tmem176b |
T |
C |
6: 48,815,266 (GRCm39) |
N9S |
possibly damaging |
Het |
| Trip11 |
T |
A |
12: 101,851,790 (GRCm39) |
Q758L |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,720,856 (GRCm39) |
I231N |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,730,397 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,870,973 (GRCm39) |
N770S |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,519,544 (GRCm39) |
Y471* |
probably null |
Het |
| Vmn2r8 |
T |
G |
5: 108,949,589 (GRCm39) |
E419D |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,689,604 (GRCm39) |
L2818F |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,308,205 (GRCm39) |
Y477F |
probably damaging |
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 |
|
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 |
|
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'- GCACACGTACAAAATGCAGG -3'
(R):5'- CTGTGAGCTCCAGGGGCT -3'
Sequencing Primer
(F):5'- CTCCGGCACCAAATAAGTTGTGTG -3'
(R):5'- CTCCAGGGGCTGCTCCG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation