Incidental Mutation 'R5932:Rad51ap2'
| ID |
461952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad51ap2
|
| Ensembl Gene |
ENSMUSG00000086022 |
| Gene Name |
RAD51 associated protein 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5932 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
11506080-11512929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11508387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 770
(N770D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124065]
|
| AlphaFold |
G3UW63 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124065
AA Change: N770D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: N770D
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
A |
19: 31,870,518 (GRCm39) |
S7T |
possibly damaging |
Het |
| Aatk |
C |
T |
11: 119,912,359 (GRCm39) |
G29S |
probably damaging |
Het |
| Akap1 |
A |
G |
11: 88,722,585 (GRCm39) |
L890P |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,259,932 (GRCm39) |
M49K |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,413,295 (GRCm39) |
N1206K |
probably damaging |
Het |
| Bbs7 |
G |
A |
3: 36,636,847 (GRCm39) |
T480I |
probably benign |
Het |
| Bbs9 |
A |
G |
9: 22,723,627 (GRCm39) |
E769G |
probably damaging |
Het |
| Bpgm |
T |
A |
6: 34,464,860 (GRCm39) |
S192R |
probably damaging |
Het |
| Brinp1 |
C |
A |
4: 68,711,178 (GRCm39) |
K343N |
probably benign |
Het |
| Cabyr |
T |
G |
18: 12,887,407 (GRCm39) |
V185G |
probably damaging |
Het |
| Cadm1 |
C |
A |
9: 47,710,749 (GRCm39) |
D217E |
probably damaging |
Het |
| Camk1g |
T |
A |
1: 193,036,347 (GRCm39) |
E171V |
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,023,570 (GRCm39) |
M825K |
possibly damaging |
Het |
| Ccdc27 |
A |
G |
4: 154,111,231 (GRCm39) |
V627A |
probably benign |
Het |
| Ccdc40 |
T |
G |
11: 119,141,838 (GRCm39) |
I808R |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,228,763 (GRCm39) |
R1140C |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,916,905 (GRCm39) |
V356A |
probably damaging |
Het |
| Cep126 |
T |
A |
9: 8,103,509 (GRCm39) |
D167V |
probably damaging |
Het |
| Chmp4b |
C |
T |
2: 154,533,201 (GRCm39) |
T147I |
probably benign |
Het |
| Clstn3 |
A |
T |
6: 124,415,291 (GRCm39) |
M728K |
probably benign |
Het |
| Col7a1 |
A |
T |
9: 108,809,279 (GRCm39) |
E2618V |
unknown |
Het |
| Cplane1 |
T |
A |
15: 8,274,079 (GRCm39) |
|
probably null |
Het |
| Crls1 |
T |
A |
2: 132,706,087 (GRCm39) |
Y170* |
probably null |
Het |
| Dennd2b |
G |
A |
7: 109,169,223 (GRCm39) |
T24M |
probably damaging |
Het |
| Epas1 |
T |
G |
17: 87,135,074 (GRCm39) |
I569S |
possibly damaging |
Het |
| Fhl3 |
T |
C |
4: 124,599,520 (GRCm39) |
Y32H |
probably damaging |
Het |
| Fibp |
G |
A |
19: 5,514,453 (GRCm39) |
G333D |
probably benign |
Het |
| Frmd4a |
C |
T |
2: 4,534,650 (GRCm39) |
T156I |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,730,435 (GRCm39) |
L873P |
possibly damaging |
Het |
| Gpr141b |
C |
A |
13: 19,913,646 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd3 |
G |
A |
4: 116,859,470 (GRCm39) |
R698H |
possibly damaging |
Het |
| Il17a |
T |
C |
1: 20,803,977 (GRCm39) |
V124A |
probably damaging |
Het |
| Kif14 |
A |
T |
1: 136,444,128 (GRCm39) |
E1373D |
probably benign |
Het |
| Klra4 |
C |
T |
6: 130,030,016 (GRCm39) |
V190M |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,944 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
GGCCG |
GG |
2: 162,809,256 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,357,810 (GRCm39) |
I111T |
probably damaging |
Het |
| Lrch3 |
A |
T |
16: 32,796,106 (GRCm39) |
D204V |
probably damaging |
Het |
| Mansc1 |
C |
A |
6: 134,587,478 (GRCm39) |
R233L |
possibly damaging |
Het |
| Mkrn3 |
A |
G |
7: 62,068,655 (GRCm39) |
C379R |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 165,912,045 (GRCm39) |
|
probably null |
Het |
| Neu3 |
A |
T |
7: 99,462,525 (GRCm39) |
C399* |
probably null |
Het |
| Or10ad1 |
T |
G |
15: 98,105,296 (GRCm39) |
*323S |
probably null |
Het |
| Or52e8 |
G |
A |
7: 104,624,862 (GRCm39) |
T114M |
probably damaging |
Het |
| Pcare |
T |
C |
17: 72,058,748 (GRCm39) |
R310G |
probably damaging |
Het |
| Pde5a |
T |
C |
3: 122,634,693 (GRCm39) |
F713L |
probably benign |
Het |
| Pdk1 |
T |
A |
2: 71,713,760 (GRCm39) |
|
probably null |
Het |
| Plin4 |
A |
G |
17: 56,413,356 (GRCm39) |
V423A |
possibly damaging |
Het |
| Pstpip1 |
T |
A |
9: 56,033,214 (GRCm39) |
Y249N |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,068,964 (GRCm39) |
C1673S |
probably benign |
Het |
| Pum1 |
A |
G |
4: 130,457,677 (GRCm39) |
T230A |
probably benign |
Het |
| Qsox1 |
A |
T |
1: 155,665,079 (GRCm39) |
D287E |
probably benign |
Het |
| Rtp3 |
T |
A |
9: 110,815,760 (GRCm39) |
I202F |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,585,248 (GRCm39) |
|
probably null |
Het |
| Spmip7 |
A |
G |
11: 11,438,513 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
C |
G |
11: 30,086,136 (GRCm39) |
V1191L |
probably damaging |
Het |
| Tead2 |
T |
C |
7: 44,882,323 (GRCm39) |
Y121H |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,358,575 (GRCm39) |
L3P |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,934,010 (GRCm39) |
I651T |
probably damaging |
Het |
| Usp2 |
A |
G |
9: 44,003,630 (GRCm39) |
I481V |
probably benign |
Het |
| Vps13d |
C |
A |
4: 144,771,611 (GRCm39) |
V4056F |
possibly damaging |
Het |
| Yeats2 |
A |
G |
16: 20,011,913 (GRCm39) |
E496G |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,820,227 (GRCm39) |
K503E |
probably damaging |
Het |
| Zbtb46 |
A |
G |
2: 181,053,713 (GRCm39) |
L333P |
probably benign |
Het |
| Zfc3h1 |
A |
T |
10: 115,236,815 (GRCm39) |
T430S |
probably benign |
Het |
| Zfp618 |
C |
T |
4: 63,036,803 (GRCm39) |
R368* |
probably null |
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 |
|
|
R5517:Rad51ap2
|
UTSW |
12 |
11,508,313 (GRCm39) |
missense |
probably benign |
0.19 |
|
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 |
|
|
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'- CAGCTTCGCTAGTGAGTAAGAG -3'
(R):5'- ACCTGCCTTCACATCACAGG -3'
Sequencing Primer
(F):5'- CGCTAGTGAGTAAGAGCATAAATATG -3'
(R):5'- AAAAAGGTGCATTTCTTGTGTTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation