Incidental Mutation 'IGL01986:Rpa2'
ID |
181896 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rpa2
|
Ensembl Gene |
ENSMUSG00000028884 |
Gene Name |
replication protein A2 |
Synonyms |
RPA34, 30-kDa protein, Rf-A2 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.960)
|
Stock # |
IGL01986
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
132495671-132506057 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 132499191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 87
(P87S)
|
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: P87S
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000099621 Gene: ENSMUSG00000028884 AA Change: P87S
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
T |
2: 152,282,956 (GRCm39) |
I245F |
possibly damaging |
Het |
Abca3 |
G |
A |
17: 24,627,088 (GRCm39) |
G1263D |
probably damaging |
Het |
Arap2 |
A |
T |
5: 62,779,265 (GRCm39) |
S1442T |
probably damaging |
Het |
Arl15 |
C |
A |
13: 114,058,902 (GRCm39) |
S56R |
possibly damaging |
Het |
Ccdc38 |
A |
T |
10: 93,415,705 (GRCm39) |
N415Y |
probably damaging |
Het |
Ccny |
G |
A |
18: 9,377,817 (GRCm39) |
R81C |
probably damaging |
Het |
Cracd |
T |
A |
5: 77,006,457 (GRCm39) |
S939R |
unknown |
Het |
Csmd3 |
T |
C |
15: 47,522,591 (GRCm39) |
T2693A |
possibly damaging |
Het |
Fancm |
C |
T |
12: 65,173,429 (GRCm39) |
Q1914* |
probably null |
Het |
Fcsk |
T |
C |
8: 111,609,889 (GRCm39) |
T1042A |
probably benign |
Het |
Gm18856 |
G |
A |
13: 14,139,413 (GRCm39) |
|
probably benign |
Het |
Gramd1a |
A |
T |
7: 30,833,434 (GRCm39) |
L610Q |
possibly damaging |
Het |
Hsd17b4 |
C |
A |
18: 50,293,193 (GRCm39) |
|
probably benign |
Het |
Hspa12a |
A |
G |
19: 58,787,834 (GRCm39) |
S663P |
probably benign |
Het |
Insr |
C |
T |
8: 3,208,817 (GRCm39) |
V1215I |
probably damaging |
Het |
Kdr |
A |
G |
5: 76,113,519 (GRCm39) |
V783A |
probably benign |
Het |
Klhl9 |
T |
C |
4: 88,640,016 (GRCm39) |
D75G |
probably damaging |
Het |
Lmntd1 |
A |
G |
6: 145,365,533 (GRCm39) |
S53P |
probably damaging |
Het |
Lrrc41 |
T |
A |
4: 115,946,519 (GRCm39) |
F411L |
probably benign |
Het |
Lyst |
G |
A |
13: 13,950,212 (GRCm39) |
|
probably null |
Het |
Mmp17 |
A |
G |
5: 129,673,692 (GRCm39) |
H257R |
probably damaging |
Het |
Nkiras1 |
G |
A |
14: 18,280,071 (GRCm38) |
R154Q |
probably damaging |
Het |
Or10ag2 |
A |
G |
2: 87,248,880 (GRCm39) |
I163V |
probably benign |
Het |
Or2b4 |
A |
G |
17: 38,116,957 (GRCm39) |
K307R |
probably damaging |
Het |
Or4p21 |
C |
T |
2: 88,276,839 (GRCm39) |
V148I |
probably benign |
Het |
Or8s16 |
T |
C |
15: 98,210,660 (GRCm39) |
Y257C |
probably damaging |
Het |
Pcsk6 |
G |
A |
7: 65,577,625 (GRCm39) |
R60H |
probably damaging |
Het |
Polk |
T |
C |
13: 96,620,331 (GRCm39) |
D623G |
probably benign |
Het |
Rlf |
A |
T |
4: 121,005,303 (GRCm39) |
C1226S |
probably damaging |
Het |
Sema5a |
T |
C |
15: 32,682,506 (GRCm39) |
|
probably benign |
Het |
Sis |
A |
T |
3: 72,852,545 (GRCm39) |
M529K |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,460,237 (GRCm39) |
M3375T |
probably benign |
Het |
Syne3 |
A |
T |
12: 104,934,259 (GRCm39) |
L83Q |
probably damaging |
Het |
Tec |
A |
T |
5: 72,939,348 (GRCm39) |
Y222* |
probably null |
Het |
Tfap2d |
C |
T |
1: 19,189,383 (GRCm39) |
|
probably benign |
Het |
Trak1 |
G |
A |
9: 121,302,033 (GRCm39) |
A930T |
probably benign |
Het |
Ugt2b34 |
G |
T |
5: 87,049,111 (GRCm39) |
H305N |
probably benign |
Het |
Vmn2r95 |
A |
G |
17: 18,660,473 (GRCm39) |
N295S |
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 |
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 |
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 |
|
Posted On |
2014-05-07 |