Incidental Mutation 'R8879:Rad51ap2'
| ID |
676788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad51ap2
|
| Ensembl Gene |
ENSMUSG00000086022 |
| Gene Name |
RAD51 associated protein 2 |
| Synonyms |
|
| MMRRC Submission |
068747-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8879 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
11506080-11512929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11507401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 441
(E441V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124065]
|
| AlphaFold |
G3UW63 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124065
AA Change: E441V
PolyPhen 2
Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: E441V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
C |
T |
15: 57,885,905 (GRCm39) |
V326M |
probably damaging |
Het |
| Adap2 |
T |
A |
11: 80,047,785 (GRCm39) |
H80Q |
probably benign |
Het |
| Ang4 |
T |
C |
14: 52,001,943 (GRCm39) |
T2A |
probably benign |
Het |
| Arf2 |
T |
C |
11: 103,870,585 (GRCm39) |
|
probably null |
Het |
| B3gnt4 |
A |
G |
5: 123,649,211 (GRCm39) |
D192G |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,102,103 (GRCm39) |
I54V |
probably benign |
Het |
| Catsper3 |
A |
G |
13: 55,952,708 (GRCm39) |
T202A |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,965,862 (GRCm39) |
D2113E |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,602,773 (GRCm39) |
V191A |
probably benign |
Het |
| Col5a1 |
G |
T |
2: 27,904,170 (GRCm39) |
A1356S |
unknown |
Het |
| Cuzd1 |
A |
G |
7: 130,910,577 (GRCm39) |
S573P |
probably damaging |
Het |
| Cyp1a2 |
C |
A |
9: 57,589,168 (GRCm39) |
M215I |
possibly damaging |
Het |
| Dcaf17 |
T |
A |
2: 70,893,746 (GRCm39) |
I122K |
possibly damaging |
Het |
| Dhcr24 |
A |
G |
4: 106,431,006 (GRCm39) |
I232V |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,895,181 (GRCm39) |
E3570G |
probably damaging |
Het |
| Dnaja4 |
A |
T |
9: 54,621,988 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,581,781 (GRCm39) |
I41T |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,348,354 (GRCm39) |
D444G |
probably damaging |
Het |
| Ehmt1 |
T |
A |
2: 24,726,488 (GRCm39) |
M766L |
possibly damaging |
Het |
| Eno4 |
A |
G |
19: 58,959,154 (GRCm39) |
I613M |
probably benign |
Het |
| Exoc3l |
A |
T |
8: 106,017,181 (GRCm39) |
M602K |
|
Het |
| Fam107a |
C |
T |
14: 8,301,352 (GRCm38) |
|
probably null |
Het |
| Frem3 |
A |
T |
8: 81,339,777 (GRCm39) |
D690V |
probably damaging |
Het |
| Gm19410 |
A |
T |
8: 36,239,022 (GRCm39) |
D97V |
probably damaging |
Het |
| Grik5 |
T |
A |
7: 24,722,489 (GRCm39) |
D540V |
possibly damaging |
Het |
| Hint1 |
T |
A |
11: 54,760,769 (GRCm39) |
D69E |
probably benign |
Het |
| Krt13 |
T |
C |
11: 100,010,211 (GRCm39) |
T257A |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,549,749 (GRCm39) |
L676P |
probably damaging |
Het |
| Lrguk |
A |
G |
6: 34,006,618 (GRCm39) |
E76G |
probably benign |
Het |
| Lrrc8a |
A |
G |
2: 30,146,310 (GRCm39) |
M375V |
probably benign |
Het |
| Lrrtm3 |
T |
C |
10: 63,925,017 (GRCm39) |
Q50R |
possibly damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,953,513 (GRCm39) |
L598Q |
probably damaging |
Het |
| Mrs2 |
A |
G |
13: 25,185,767 (GRCm39) |
I135T |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,125,592 (GRCm39) |
D475G |
|
Het |
| Notch2 |
A |
G |
3: 98,042,915 (GRCm39) |
S1427G |
possibly damaging |
Het |
| Odad4 |
G |
T |
11: 100,457,752 (GRCm39) |
E452* |
probably null |
Het |
| Opcml |
T |
C |
9: 28,813,447 (GRCm39) |
F246S |
probably damaging |
Het |
| Or10al2 |
C |
A |
17: 37,983,302 (GRCm39) |
Y129* |
probably null |
Het |
| Or2ag1b |
A |
T |
7: 106,288,296 (GRCm39) |
I214N |
probably damaging |
Het |
| Or56a42-ps1 |
A |
G |
7: 104,775,893 (GRCm39) |
V195A |
probably benign |
Het |
| Or6c69 |
A |
G |
10: 129,747,731 (GRCm39) |
C139R |
probably damaging |
Het |
| Or8g33 |
A |
C |
9: 39,337,515 (GRCm39) |
V284G |
possibly damaging |
Het |
| Pdzd2 |
C |
A |
15: 12,402,405 (GRCm39) |
V729F |
probably damaging |
Het |
| Pias2 |
C |
T |
18: 77,234,464 (GRCm39) |
Q565* |
probably null |
Het |
| Pnp |
T |
A |
14: 51,188,177 (GRCm39) |
|
probably null |
Het |
| Ptpn18 |
T |
C |
1: 34,502,211 (GRCm39) |
S76P |
probably benign |
Het |
| Qtrt2 |
A |
T |
16: 43,683,560 (GRCm39) |
L304Q |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,313,711 (GRCm39) |
V1477E |
probably benign |
Het |
| Repin1 |
C |
T |
6: 48,574,367 (GRCm39) |
T432I |
possibly damaging |
Het |
| Rest |
G |
A |
5: 77,430,358 (GRCm39) |
G926R |
probably benign |
Het |
| Rnft1 |
T |
A |
11: 86,377,516 (GRCm39) |
F143L |
possibly damaging |
Het |
| Sema3e |
A |
T |
5: 14,282,108 (GRCm39) |
I415L |
probably benign |
Het |
| Slc10a1 |
T |
A |
12: 81,014,369 (GRCm39) |
N117I |
probably damaging |
Het |
| Slc25a23 |
G |
A |
17: 57,366,709 (GRCm39) |
|
probably benign |
Het |
| Slc2a2 |
T |
C |
3: 28,767,951 (GRCm39) |
S160P |
possibly damaging |
Het |
| Srrd |
A |
G |
5: 112,486,322 (GRCm39) |
V178A |
possibly damaging |
Het |
| Tmigd3 |
G |
T |
3: 105,829,277 (GRCm39) |
G198C |
probably benign |
Het |
| Trbv28 |
G |
A |
6: 41,248,339 (GRCm39) |
M1I |
probably null |
Het |
| Tril |
A |
G |
6: 53,796,569 (GRCm39) |
S218P |
probably damaging |
Het |
| Trip11 |
T |
C |
12: 101,828,857 (GRCm39) |
K1749R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,660,995 (GRCm39) |
V12011A |
|
Het |
| Ubr4 |
T |
G |
4: 139,137,829 (GRCm39) |
F1093V |
probably benign |
Het |
| Urb2 |
C |
A |
8: 124,755,142 (GRCm39) |
A283E |
probably benign |
Het |
| Usp43 |
T |
A |
11: 67,789,707 (GRCm39) |
|
probably benign |
Het |
| Vmn1r28 |
A |
T |
6: 58,242,669 (GRCm39) |
I171F |
probably benign |
Het |
| Vps33a |
G |
A |
5: 123,671,962 (GRCm39) |
R469W |
probably damaging |
Het |
| Zfp202 |
G |
A |
9: 40,123,053 (GRCm39) |
R605Q |
probably damaging |
Het |
| Zpbp2 |
A |
T |
11: 98,445,446 (GRCm39) |
H158L |
probably benign |
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 |
|
|
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 |
|
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'- CTCTAACACTAGAAGTTGCAAATTGCG -3'
(R):5'- CCGTTGAAGAACATGTTCCG -3'
Sequencing Primer
(F):5'- CAAAACTTGGACTGTGACAGATC -3'
(R):5'- AACATGTTCCGTTTTAAATAGTTTCC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation