Incidental Mutation 'R4282:Rad51ap2'
ID |
322959 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad51ap2
|
Ensembl Gene |
ENSMUSG00000086022 |
Gene Name |
RAD51 associated protein 2 |
Synonyms |
|
MMRRC Submission |
041650-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4282 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
11506080-11512929 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 11506465 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 129
(V129D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124065]
|
AlphaFold |
G3UW63 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000124065
AA Change: V129D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000128854 Gene: ENSMUSG00000086022 AA Change: V129D
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (59/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700092K14Rik |
A |
C |
11: 114,089,970 (GRCm39) |
|
noncoding transcript |
Het |
Abca17 |
G |
T |
17: 24,518,034 (GRCm39) |
D758E |
possibly damaging |
Het |
Adam28 |
A |
G |
14: 68,885,155 (GRCm39) |
V65A |
possibly damaging |
Het |
Adgra2 |
T |
A |
8: 27,609,272 (GRCm39) |
M616K |
possibly damaging |
Het |
Aldh3b2 |
A |
G |
19: 4,027,636 (GRCm39) |
D59G |
probably benign |
Het |
Ankrd28 |
A |
G |
14: 31,467,182 (GRCm39) |
V260A |
possibly damaging |
Het |
Bbs7 |
A |
G |
3: 36,627,720 (GRCm39) |
V689A |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,302,296 (GRCm39) |
F1653S |
probably benign |
Het |
Cd55b |
T |
C |
1: 130,344,596 (GRCm39) |
D213G |
probably damaging |
Het |
Colgalt2 |
G |
A |
1: 152,344,282 (GRCm39) |
V115M |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,447,427 (GRCm39) |
V1138A |
probably damaging |
Het |
Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
Dus2 |
C |
T |
8: 106,775,286 (GRCm39) |
A271V |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
Fancg |
T |
C |
4: 43,003,830 (GRCm39) |
D533G |
probably damaging |
Het |
Frem3 |
T |
C |
8: 81,340,770 (GRCm39) |
V1021A |
probably benign |
Het |
Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
Hspb6 |
T |
C |
7: 30,252,889 (GRCm39) |
S44P |
possibly damaging |
Het |
Jsrp1 |
T |
C |
10: 80,646,190 (GRCm39) |
I50V |
probably benign |
Het |
Kansl1 |
T |
C |
11: 104,269,515 (GRCm39) |
N476S |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,722,946 (GRCm39) |
D810G |
probably damaging |
Het |
Magea14 |
T |
C |
X: 51,057,867 (GRCm39) |
Y273C |
probably damaging |
Het |
Maml2 |
C |
A |
9: 13,531,406 (GRCm39) |
L207I |
possibly damaging |
Het |
Myo3a |
A |
T |
2: 22,345,089 (GRCm39) |
E508D |
probably benign |
Het |
Nav1 |
T |
A |
1: 135,385,651 (GRCm39) |
|
probably benign |
Het |
Ndrg3 |
A |
T |
2: 156,790,214 (GRCm39) |
C90S |
possibly damaging |
Het |
Orc1 |
A |
G |
4: 108,463,471 (GRCm39) |
S663G |
probably benign |
Het |
Pcdhb14 |
T |
A |
18: 37,583,195 (GRCm39) |
L767H |
probably damaging |
Het |
Pcgf1 |
T |
A |
6: 83,056,714 (GRCm39) |
L90Q |
probably damaging |
Het |
Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
Por |
C |
A |
5: 135,744,815 (GRCm39) |
T26K |
possibly damaging |
Het |
Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
Qsox1 |
T |
A |
1: 155,662,671 (GRCm39) |
|
probably null |
Het |
Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
Rxfp2 |
T |
G |
5: 149,993,735 (GRCm39) |
V585G |
possibly damaging |
Het |
Sftpd |
G |
A |
14: 40,894,537 (GRCm39) |
T294I |
probably benign |
Het |
Sh3gl1 |
A |
G |
17: 56,343,456 (GRCm39) |
S2P |
probably damaging |
Het |
Slc38a10 |
A |
T |
11: 120,020,090 (GRCm39) |
F321I |
probably damaging |
Het |
Slc4a10 |
T |
A |
2: 62,074,687 (GRCm39) |
|
probably null |
Het |
Slco6b1 |
A |
G |
1: 96,925,115 (GRCm39) |
|
noncoding transcript |
Het |
Slit1 |
T |
C |
19: 41,602,856 (GRCm39) |
E985G |
probably benign |
Het |
Smurf1 |
C |
T |
5: 144,819,403 (GRCm39) |
E575K |
probably damaging |
Het |
Sned1 |
A |
T |
1: 93,213,577 (GRCm39) |
R426* |
probably null |
Het |
Tas2r123 |
G |
A |
6: 132,825,008 (GRCm39) |
V302I |
possibly damaging |
Het |
Tmem182 |
T |
C |
1: 40,877,530 (GRCm39) |
I135T |
probably damaging |
Het |
Tmem67 |
T |
C |
4: 12,073,922 (GRCm39) |
Y298C |
probably damaging |
Het |
Trappc9 |
A |
G |
15: 72,462,641 (GRCm39) |
C1026R |
probably damaging |
Het |
Troap |
A |
G |
15: 98,976,713 (GRCm39) |
D279G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,452 (GRCm39) |
T109A |
probably benign |
Het |
Vmn2r25 |
A |
T |
6: 123,800,606 (GRCm39) |
C579S |
probably damaging |
Het |
Zbtb18 |
A |
G |
1: 177,275,045 (GRCm39) |
D126G |
probably 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 |
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 |
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'- AAAAGTCTGGGAGTGGTCGC -3'
(R):5'- CATGTAATGCTGACTTAGTTTCCTC -3'
Sequencing Primer
(F):5'- GTCGCTCAGACCCTTCACAG -3'
(R):5'- GCTGACTTAGTTTCCTCAGAAAATGG -3'
|
Posted On |
2015-06-20 |