Incidental Mutation 'R5517:Rad51ap2'
ID |
431367 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad51ap2
|
Ensembl Gene |
ENSMUSG00000086022 |
Gene Name |
RAD51 associated protein 2 |
Synonyms |
|
MMRRC Submission |
043076-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5517 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
11506080-11512929 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 11508313 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 745
(S745L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124065]
|
AlphaFold |
G3UW63 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000124065
AA Change: S745L
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000128854 Gene: ENSMUSG00000086022 AA Change: S745L
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
low complexity region
|
428 |
438 |
N/A |
INTRINSIC |
low complexity region
|
702 |
713 |
N/A |
INTRINSIC |
Pfam:RAD51_interact
|
937 |
975 |
1.3e-20 |
PFAM |
|
Meta Mutation Damage Score |
0.0750 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.5%
|
Validation Efficiency |
99% (67/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
C |
T |
17: 36,269,233 (GRCm39) |
R675K |
possibly damaging |
Het |
Aire |
A |
T |
10: 77,875,525 (GRCm39) |
S282T |
probably benign |
Het |
Ak9 |
A |
G |
10: 41,216,887 (GRCm39) |
E283G |
probably benign |
Het |
Akap9 |
T |
A |
5: 4,051,665 (GRCm39) |
D1477E |
possibly damaging |
Het |
Ap2a1 |
T |
C |
7: 44,556,405 (GRCm39) |
D273G |
possibly damaging |
Het |
Apob |
T |
C |
12: 8,040,906 (GRCm39) |
L664P |
probably damaging |
Het |
Arhgap35 |
A |
T |
7: 16,297,414 (GRCm39) |
F550L |
probably damaging |
Het |
Armc2 |
T |
C |
10: 41,839,846 (GRCm39) |
E373G |
probably benign |
Het |
Atp8b2 |
C |
A |
3: 89,853,338 (GRCm39) |
A726S |
probably benign |
Het |
C030048H21Rik |
T |
A |
2: 26,145,899 (GRCm39) |
Q87L |
probably damaging |
Het |
Cd244a |
T |
A |
1: 171,405,542 (GRCm39) |
|
probably benign |
Het |
Cdk10 |
T |
A |
8: 123,957,326 (GRCm39) |
|
probably null |
Het |
Cenpe |
C |
A |
3: 134,929,026 (GRCm39) |
P310Q |
probably damaging |
Het |
Chuk |
T |
A |
19: 44,085,972 (GRCm39) |
|
probably null |
Het |
Crebl2 |
T |
C |
6: 134,828,139 (GRCm39) |
S104P |
probably benign |
Het |
Ddo |
A |
G |
10: 40,523,726 (GRCm39) |
K239E |
probably benign |
Het |
Defb5 |
A |
G |
8: 19,300,868 (GRCm39) |
|
probably null |
Het |
Dhx35 |
T |
A |
2: 158,676,832 (GRCm39) |
M422K |
probably damaging |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Gatm |
G |
A |
2: 122,426,024 (GRCm39) |
T409I |
probably damaging |
Het |
Gdpd1 |
A |
T |
11: 86,950,332 (GRCm39) |
D80E |
probably damaging |
Het |
Gspt1 |
C |
A |
16: 11,071,843 (GRCm39) |
G7C |
unknown |
Het |
Hells |
G |
A |
19: 38,943,244 (GRCm39) |
S516N |
probably benign |
Het |
Ints1 |
A |
G |
5: 139,738,542 (GRCm39) |
S2069P |
possibly damaging |
Het |
Kank4 |
G |
A |
4: 98,663,118 (GRCm39) |
T690M |
probably damaging |
Het |
Kcnq4 |
T |
C |
4: 120,573,006 (GRCm39) |
N265S |
possibly damaging |
Het |
Kif5b |
C |
A |
18: 6,220,954 (GRCm39) |
A385S |
probably benign |
Het |
Map2 |
T |
C |
1: 66,454,415 (GRCm39) |
S1102P |
probably benign |
Het |
Mcm7 |
A |
G |
5: 138,163,133 (GRCm39) |
S340P |
possibly damaging |
Het |
Mcrs1 |
C |
T |
15: 99,144,876 (GRCm39) |
R246H |
possibly damaging |
Het |
Myo16 |
T |
A |
8: 10,610,226 (GRCm39) |
M1189K |
probably benign |
Het |
Or4d2 |
A |
T |
11: 87,783,892 (GRCm39) |
I286N |
probably damaging |
Het |
Or4k52 |
G |
T |
2: 111,610,804 (GRCm39) |
M46I |
probably benign |
Het |
Or7g29 |
G |
A |
9: 19,287,063 (GRCm39) |
T38I |
probably damaging |
Het |
Otog |
A |
G |
7: 45,923,995 (GRCm39) |
N1118S |
probably damaging |
Het |
Pakap |
T |
C |
4: 57,855,987 (GRCm39) |
Y439H |
probably damaging |
Het |
Pcdhb7 |
G |
T |
18: 37,474,846 (GRCm39) |
|
probably benign |
Het |
Picalm |
C |
T |
7: 89,819,806 (GRCm39) |
T189I |
possibly damaging |
Het |
Ptx4 |
T |
A |
17: 25,343,760 (GRCm39) |
S337T |
possibly damaging |
Het |
Rspry1 |
G |
A |
8: 95,363,388 (GRCm39) |
|
probably null |
Het |
Scn5a |
T |
G |
9: 119,324,779 (GRCm39) |
I1350L |
probably damaging |
Het |
Sgk2 |
T |
C |
2: 162,839,755 (GRCm39) |
L121P |
probably damaging |
Het |
Slc17a1 |
A |
T |
13: 24,056,575 (GRCm39) |
|
probably benign |
Het |
Slc6a12 |
A |
G |
6: 121,331,298 (GRCm39) |
N183S |
probably benign |
Het |
Smg9 |
C |
A |
7: 24,114,338 (GRCm39) |
|
probably benign |
Het |
Spred1 |
G |
A |
2: 117,008,195 (GRCm39) |
S367N |
probably damaging |
Het |
Srpra |
T |
C |
9: 35,122,646 (GRCm39) |
V21A |
probably benign |
Het |
Taar2 |
A |
T |
10: 23,816,627 (GRCm39) |
I56F |
possibly damaging |
Het |
Taf1a |
T |
G |
1: 183,177,323 (GRCm39) |
L67R |
probably damaging |
Het |
Tbc1d10b |
C |
A |
7: 126,797,779 (GRCm39) |
R787S |
possibly damaging |
Het |
Topbp1 |
T |
A |
9: 103,213,313 (GRCm39) |
N1044K |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,232,871 (GRCm39) |
T886A |
probably benign |
Het |
Vmn2r26 |
A |
G |
6: 124,027,676 (GRCm39) |
D472G |
probably damaging |
Het |
Zyg11a |
T |
C |
4: 108,061,943 (GRCm39) |
N286S |
possibly damaging |
Het |
|
Other mutations in Rad51ap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01879:Rad51ap2
|
APN |
12 |
11,508,139 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01908:Rad51ap2
|
APN |
12 |
11,508,592 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02415:Rad51ap2
|
APN |
12 |
11,506,930 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02731:Rad51ap2
|
APN |
12 |
11,506,897 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03407:Rad51ap2
|
APN |
12 |
11,507,198 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0190:Rad51ap2
|
UTSW |
12 |
11,508,540 (GRCm39) |
missense |
probably benign |
0.01 |
R0281:Rad51ap2
|
UTSW |
12 |
11,507,043 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0564:Rad51ap2
|
UTSW |
12 |
11,507,897 (GRCm39) |
missense |
probably benign |
0.20 |
R0674:Rad51ap2
|
UTSW |
12 |
11,508,818 (GRCm39) |
critical splice donor site |
probably null |
|
R0699:Rad51ap2
|
UTSW |
12 |
11,507,601 (GRCm39) |
missense |
probably benign |
0.03 |
R1033:Rad51ap2
|
UTSW |
12 |
11,506,252 (GRCm39) |
missense |
probably damaging |
0.98 |
R1255:Rad51ap2
|
UTSW |
12 |
11,508,095 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1572:Rad51ap2
|
UTSW |
12 |
11,507,113 (GRCm39) |
missense |
probably damaging |
0.99 |
R1746:Rad51ap2
|
UTSW |
12 |
11,507,776 (GRCm39) |
missense |
probably benign |
|
R1882:Rad51ap2
|
UTSW |
12 |
11,506,251 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2038:Rad51ap2
|
UTSW |
12 |
11,507,025 (GRCm39) |
missense |
possibly damaging |
0.73 |
R2151:Rad51ap2
|
UTSW |
12 |
11,507,986 (GRCm39) |
missense |
probably benign |
0.02 |
R2152:Rad51ap2
|
UTSW |
12 |
11,507,986 (GRCm39) |
missense |
probably benign |
0.02 |
R2154:Rad51ap2
|
UTSW |
12 |
11,507,986 (GRCm39) |
missense |
probably benign |
0.02 |
R2159:Rad51ap2
|
UTSW |
12 |
11,507,752 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2321:Rad51ap2
|
UTSW |
12 |
11,507,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R2355:Rad51ap2
|
UTSW |
12 |
11,507,109 (GRCm39) |
missense |
probably benign |
|
R2393:Rad51ap2
|
UTSW |
12 |
11,507,798 (GRCm39) |
missense |
probably damaging |
0.98 |
R2407:Rad51ap2
|
UTSW |
12 |
11,508,502 (GRCm39) |
missense |
probably damaging |
0.99 |
R2518:Rad51ap2
|
UTSW |
12 |
11,507,068 (GRCm39) |
missense |
probably damaging |
0.99 |
R2929:Rad51ap2
|
UTSW |
12 |
11,507,185 (GRCm39) |
missense |
probably benign |
0.07 |
R3085:Rad51ap2
|
UTSW |
12 |
11,506,758 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4009:Rad51ap2
|
UTSW |
12 |
11,507,052 (GRCm39) |
missense |
probably benign |
0.33 |
R4108:Rad51ap2
|
UTSW |
12 |
11,508,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R4282:Rad51ap2
|
UTSW |
12 |
11,506,465 (GRCm39) |
missense |
probably benign |
0.01 |
R4536:Rad51ap2
|
UTSW |
12 |
11,507,850 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4594:Rad51ap2
|
UTSW |
12 |
11,507,881 (GRCm39) |
missense |
probably benign |
0.01 |
R4678:Rad51ap2
|
UTSW |
12 |
11,506,552 (GRCm39) |
missense |
probably damaging |
0.96 |
R4679:Rad51ap2
|
UTSW |
12 |
11,506,552 (GRCm39) |
missense |
probably damaging |
0.96 |
R4810:Rad51ap2
|
UTSW |
12 |
11,507,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R5151:Rad51ap2
|
UTSW |
12 |
11,507,516 (GRCm39) |
missense |
probably benign |
0.09 |
R5421:Rad51ap2
|
UTSW |
12 |
11,509,368 (GRCm39) |
nonsense |
probably null |
|
R5786:Rad51ap2
|
UTSW |
12 |
11,506,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R5884:Rad51ap2
|
UTSW |
12 |
11,507,534 (GRCm39) |
small deletion |
probably benign |
|
R5932:Rad51ap2
|
UTSW |
12 |
11,508,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R6022:Rad51ap2
|
UTSW |
12 |
11,508,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R6064:Rad51ap2
|
UTSW |
12 |
11,507,418 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6112:Rad51ap2
|
UTSW |
12 |
11,507,290 (GRCm39) |
missense |
probably benign |
0.01 |
R6235:Rad51ap2
|
UTSW |
12 |
11,507,517 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6282:Rad51ap2
|
UTSW |
12 |
11,507,560 (GRCm39) |
missense |
probably benign |
0.12 |
R6488:Rad51ap2
|
UTSW |
12 |
11,508,161 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6668:Rad51ap2
|
UTSW |
12 |
11,507,647 (GRCm39) |
missense |
probably benign |
0.17 |
R6759:Rad51ap2
|
UTSW |
12 |
11,507,145 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7030:Rad51ap2
|
UTSW |
12 |
11,507,432 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7080:Rad51ap2
|
UTSW |
12 |
11,506,366 (GRCm39) |
missense |
probably benign |
|
R7105:Rad51ap2
|
UTSW |
12 |
11,508,278 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7269:Rad51ap2
|
UTSW |
12 |
11,506,807 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7286:Rad51ap2
|
UTSW |
12 |
11,507,692 (GRCm39) |
missense |
probably benign |
0.19 |
R7305:Rad51ap2
|
UTSW |
12 |
11,507,344 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7451:Rad51ap2
|
UTSW |
12 |
11,507,982 (GRCm39) |
missense |
probably benign |
0.05 |
R7632:Rad51ap2
|
UTSW |
12 |
11,507,116 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7833:Rad51ap2
|
UTSW |
12 |
11,506,656 (GRCm39) |
missense |
probably benign |
|
R7839:Rad51ap2
|
UTSW |
12 |
11,507,238 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7953:Rad51ap2
|
UTSW |
12 |
11,512,593 (GRCm39) |
nonsense |
probably null |
|
R8040:Rad51ap2
|
UTSW |
12 |
11,508,792 (GRCm39) |
missense |
probably benign |
0.03 |
R8879:Rad51ap2
|
UTSW |
12 |
11,507,401 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8963:Rad51ap2
|
UTSW |
12 |
11,506,255 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9010:Rad51ap2
|
UTSW |
12 |
11,508,675 (GRCm39) |
missense |
probably benign |
0.01 |
R9328:Rad51ap2
|
UTSW |
12 |
11,507,772 (GRCm39) |
missense |
probably benign |
0.03 |
R9691:Rad51ap2
|
UTSW |
12 |
11,509,413 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9712:Rad51ap2
|
UTSW |
12 |
11,507,593 (GRCm39) |
missense |
possibly damaging |
0.95 |
RF023:Rad51ap2
|
UTSW |
12 |
11,508,076 (GRCm39) |
missense |
possibly damaging |
0.94 |
X0026:Rad51ap2
|
UTSW |
12 |
11,508,097 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAGAAGGAAGAGGATAGTTTTCC -3'
(R):5'- TGTCATCCTGGTACTTGGAATTTC -3'
Sequencing Primer
(F):5'- AGTTTTCCCACAATGGACGG -3'
(R):5'- CATGAAACATTCGAAGTTCTTCAAG -3'
|
Posted On |
2016-10-05 |