Incidental Mutation 'IGL03292:Rad52'
| ID |
415945 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rad52
|
| Ensembl Gene |
ENSMUSG00000030166 |
| Gene Name |
RAD52 homolog, DNA repair protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
IGL03292
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
119879659-119899789 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119895934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 265
(L265P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032269]
[ENSMUST00000060043]
[ENSMUST00000088644]
[ENSMUST00000161045]
[ENSMUST00000162461]
[ENSMUST00000177761]
|
| AlphaFold |
P43352 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032269
AA Change: L265P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032269
Gene: ENSMUSG00000030166
AA Change: L265P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad52_Rad22
|
36 |
185 |
2.4e-56 |
PFAM |
|
low complexity region
|
262 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
301 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060043
|
| SMART Domains |
Protein: ENSMUSP00000063001
Gene: ENSMUSG00000045962
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
101 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
193 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
221 |
477 |
1.5e-44 |
PFAM |
|
Pfam:Pkinase
|
221 |
479 |
4.4e-58 |
PFAM |
|
Pfam:OSR1_C
|
500 |
537 |
2e-22 |
PFAM |
|
coiled coil region
|
563 |
597 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
746 |
N/A |
INTRINSIC |
|
low complexity region
|
865 |
876 |
N/A |
INTRINSIC |
|
low complexity region
|
1018 |
1028 |
N/A |
INTRINSIC |
|
low complexity region
|
1042 |
1058 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1136 |
1178 |
2.15e-5 |
PROSPERO |
|
low complexity region
|
1289 |
1305 |
N/A |
INTRINSIC |
|
low complexity region
|
1345 |
1357 |
N/A |
INTRINSIC |
|
low complexity region
|
1379 |
1396 |
N/A |
INTRINSIC |
|
low complexity region
|
1398 |
1428 |
N/A |
INTRINSIC |
|
low complexity region
|
1429 |
1454 |
N/A |
INTRINSIC |
|
low complexity region
|
1496 |
1515 |
N/A |
INTRINSIC |
|
low complexity region
|
1542 |
1556 |
N/A |
INTRINSIC |
|
low complexity region
|
1586 |
1609 |
N/A |
INTRINSIC |
|
low complexity region
|
1670 |
1691 |
N/A |
INTRINSIC |
|
low complexity region
|
1698 |
1712 |
N/A |
INTRINSIC |
|
low complexity region
|
1738 |
1764 |
N/A |
INTRINSIC |
|
low complexity region
|
1882 |
1900 |
N/A |
INTRINSIC |
|
coiled coil region
|
2065 |
2092 |
N/A |
INTRINSIC |
|
low complexity region
|
2103 |
2114 |
N/A |
INTRINSIC |
|
low complexity region
|
2116 |
2140 |
N/A |
INTRINSIC |
|
low complexity region
|
2208 |
2232 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088644
|
| SMART Domains |
Protein: ENSMUSP00000086017
Gene: ENSMUSG00000045962
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
101 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
193 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
221 |
477 |
5.5e-44 |
PFAM |
|
Pfam:Pkinase
|
221 |
479 |
4.3e-56 |
PFAM |
|
Pfam:OSR1_C
|
500 |
537 |
1.9e-22 |
PFAM |
|
coiled coil region
|
563 |
597 |
N/A |
INTRINSIC |
|
low complexity region
|
742 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
919 |
935 |
N/A |
INTRINSIC |
|
low complexity region
|
1050 |
1063 |
N/A |
INTRINSIC |
|
low complexity region
|
1067 |
1076 |
N/A |
INTRINSIC |
|
low complexity region
|
1146 |
1158 |
N/A |
INTRINSIC |
|
low complexity region
|
1276 |
1286 |
N/A |
INTRINSIC |
|
low complexity region
|
1300 |
1316 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1394 |
1436 |
2.19e-5 |
PROSPERO |
|
low complexity region
|
1547 |
1563 |
N/A |
INTRINSIC |
|
low complexity region
|
1603 |
1615 |
N/A |
INTRINSIC |
|
low complexity region
|
1637 |
1654 |
N/A |
INTRINSIC |
|
low complexity region
|
1656 |
1686 |
N/A |
INTRINSIC |
|
low complexity region
|
1687 |
1712 |
N/A |
INTRINSIC |
|
low complexity region
|
1754 |
1773 |
N/A |
INTRINSIC |
|
low complexity region
|
1800 |
1814 |
N/A |
INTRINSIC |
|
low complexity region
|
1844 |
1867 |
N/A |
INTRINSIC |
|
low complexity region
|
1928 |
1949 |
N/A |
INTRINSIC |
|
low complexity region
|
1956 |
1970 |
N/A |
INTRINSIC |
|
low complexity region
|
1996 |
2022 |
N/A |
INTRINSIC |
|
low complexity region
|
2140 |
2158 |
N/A |
INTRINSIC |
|
coiled coil region
|
2323 |
2350 |
N/A |
INTRINSIC |
|
low complexity region
|
2361 |
2372 |
N/A |
INTRINSIC |
|
low complexity region
|
2374 |
2398 |
N/A |
INTRINSIC |
|
low complexity region
|
2466 |
2490 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160558
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161045
|
| SMART Domains |
Protein: ENSMUSP00000125559
Gene: ENSMUSG00000030166
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1H2I|V
|
1 |
64 |
2e-26 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162461
AA Change: L265P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125502
Gene: ENSMUSG00000030166
AA Change: L265P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad52_Rad22
|
36 |
184 |
6.6e-51 |
PFAM |
|
low complexity region
|
262 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
301 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162205
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204319
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177761
|
| SMART Domains |
Protein: ENSMUSP00000136777
Gene: ENSMUSG00000045962
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
101 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
193 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
221 |
477 |
1.7e-44 |
PFAM |
|
Pfam:Pkinase
|
221 |
479 |
5.1e-58 |
PFAM |
|
Pfam:OSR1_C
|
500 |
537 |
2.2e-22 |
PFAM |
|
coiled coil region
|
563 |
597 |
N/A |
INTRINSIC |
|
low complexity region
|
710 |
722 |
N/A |
INTRINSIC |
|
low complexity region
|
828 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
1005 |
1021 |
N/A |
INTRINSIC |
|
low complexity region
|
1136 |
1149 |
N/A |
INTRINSIC |
|
low complexity region
|
1153 |
1162 |
N/A |
INTRINSIC |
|
low complexity region
|
1232 |
1244 |
N/A |
INTRINSIC |
|
low complexity region
|
1291 |
1307 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1385 |
1427 |
1.91e-5 |
PROSPERO |
|
low complexity region
|
1538 |
1554 |
N/A |
INTRINSIC |
|
low complexity region
|
1594 |
1606 |
N/A |
INTRINSIC |
|
low complexity region
|
1628 |
1645 |
N/A |
INTRINSIC |
|
low complexity region
|
1647 |
1677 |
N/A |
INTRINSIC |
|
low complexity region
|
1678 |
1703 |
N/A |
INTRINSIC |
|
low complexity region
|
1745 |
1764 |
N/A |
INTRINSIC |
|
low complexity region
|
1791 |
1805 |
N/A |
INTRINSIC |
|
low complexity region
|
1835 |
1858 |
N/A |
INTRINSIC |
|
low complexity region
|
1919 |
1940 |
N/A |
INTRINSIC |
|
low complexity region
|
1947 |
1961 |
N/A |
INTRINSIC |
|
low complexity region
|
1987 |
2013 |
N/A |
INTRINSIC |
|
low complexity region
|
2131 |
2149 |
N/A |
INTRINSIC |
|
coiled coil region
|
2314 |
2341 |
N/A |
INTRINSIC |
|
low complexity region
|
2352 |
2363 |
N/A |
INTRINSIC |
|
low complexity region
|
2365 |
2389 |
N/A |
INTRINSIC |
|
low complexity region
|
2457 |
2481 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit normal reproductive and immune systems. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,765,827 (GRCm39) |
C713Y |
possibly damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,856,803 (GRCm39) |
N205S |
probably benign |
Het |
| Arhgef5 |
T |
G |
6: 43,257,180 (GRCm39) |
F1244V |
probably damaging |
Het |
| Bbs2 |
A |
G |
8: 94,801,749 (GRCm39) |
|
probably null |
Het |
| Chsy1 |
A |
C |
7: 65,775,120 (GRCm39) |
M150L |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,632,989 (GRCm39) |
|
probably null |
Het |
| Efhc1 |
T |
C |
1: 21,030,496 (GRCm39) |
I143T |
possibly damaging |
Het |
| Elf4 |
A |
C |
X: 47,503,583 (GRCm39) |
F642C |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 26,047,771 (GRCm39) |
D128G |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,855,350 (GRCm39) |
I1953N |
probably damaging |
Het |
| Frmpd4 |
A |
T |
X: 166,260,586 (GRCm39) |
I1052K |
probably benign |
Het |
| Ift52 |
T |
A |
2: 162,865,320 (GRCm39) |
I57N |
probably damaging |
Het |
| Lilrb4a |
G |
A |
10: 51,370,942 (GRCm39) |
|
probably null |
Het |
| Mob3a |
A |
T |
10: 80,526,920 (GRCm39) |
I135N |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,613,437 (GRCm39) |
I799N |
probably damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,362,009 (GRCm39) |
Q155L |
possibly damaging |
Het |
| Taok1 |
A |
T |
11: 77,430,962 (GRCm39) |
M821K |
probably benign |
Het |
| Tars1 |
T |
A |
15: 11,384,107 (GRCm39) |
E720V |
probably benign |
Het |
| Tec |
T |
C |
5: 72,914,707 (GRCm39) |
E603G |
probably null |
Het |
| Timp1 |
A |
G |
X: 20,739,057 (GRCm39) |
T56A |
probably benign |
Het |
| Txnrd2 |
C |
A |
16: 18,296,479 (GRCm39) |
H511Q |
possibly damaging |
Het |
| Ubr4 |
A |
T |
4: 139,167,746 (GRCm39) |
D2743V |
probably damaging |
Het |
| Vmn1r211 |
C |
T |
13: 23,036,613 (GRCm39) |
G18D |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,476,840 (GRCm39) |
Q3127* |
probably null |
Het |
|
| Other mutations in Rad52 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Rad52
|
APN |
6 |
119,895,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02376:Rad52
|
APN |
6 |
119,892,191 (GRCm39) |
splice site |
probably benign |
|
|
IGL02572:Rad52
|
APN |
6 |
119,892,188 (GRCm39) |
splice site |
probably benign |
|
|
R1693:Rad52
|
UTSW |
6 |
119,892,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Rad52
|
UTSW |
6 |
119,888,040 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2110:Rad52
|
UTSW |
6 |
119,897,855 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4753:Rad52
|
UTSW |
6 |
119,889,946 (GRCm39) |
intron |
probably benign |
|
|
R5857:Rad52
|
UTSW |
6 |
119,887,968 (GRCm39) |
splice site |
probably null |
|
|
R5866:Rad52
|
UTSW |
6 |
119,889,907 (GRCm39) |
intron |
probably benign |
|
|
R6193:Rad52
|
UTSW |
6 |
119,897,143 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6369:Rad52
|
UTSW |
6 |
119,891,168 (GRCm39) |
missense |
unknown |
|
|
R8886:Rad52
|
UTSW |
6 |
119,890,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8888:Rad52
|
UTSW |
6 |
119,890,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8889:Rad52
|
UTSW |
6 |
119,890,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9321:Rad52
|
UTSW |
6 |
119,889,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation