Incidental Mutation 'R3085:Rad51ap2'
| ID |
265602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad51ap2
|
| Ensembl Gene |
ENSMUSG00000086022 |
| Gene Name |
RAD51 associated protein 2 |
| Synonyms |
|
| MMRRC Submission |
040574-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3085 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
11506080-11512929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 11506758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 227
(Q227K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124065]
|
| AlphaFold |
G3UW63 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124065
AA Change: Q227K
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: Q227K
| 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 |
0.0838 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,270,536 (GRCm39) |
|
probably benign |
Het |
| Adrm1 |
T |
C |
2: 179,816,094 (GRCm39) |
|
probably null |
Het |
| Aldh18a1 |
T |
C |
19: 40,562,813 (GRCm39) |
I76V |
probably benign |
Het |
| Atp1b2 |
T |
C |
11: 69,493,705 (GRCm39) |
K125E |
possibly damaging |
Het |
| Cabyr |
T |
C |
18: 12,884,023 (GRCm39) |
V170A |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,923,018 (GRCm39) |
T293A |
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,185,476 (GRCm39) |
V345D |
probably benign |
Het |
| Col4a3 |
A |
G |
1: 82,628,979 (GRCm39) |
E131G |
unknown |
Het |
| Col4a4 |
C |
T |
1: 82,507,285 (GRCm39) |
|
probably null |
Het |
| Creb3l1 |
G |
T |
2: 91,825,789 (GRCm39) |
|
probably null |
Het |
| Dhx9 |
T |
C |
1: 153,341,445 (GRCm39) |
D601G |
probably benign |
Het |
| Dipk1a |
G |
T |
5: 108,062,290 (GRCm39) |
D28E |
probably damaging |
Het |
| Dnaaf4 |
T |
A |
9: 72,879,688 (GRCm39) |
N289K |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,759,332 (GRCm39) |
E807G |
probably damaging |
Het |
| Exog |
C |
A |
9: 119,291,518 (GRCm39) |
T241K |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,344,314 (GRCm39) |
D109G |
probably benign |
Het |
| Fat2 |
C |
T |
11: 55,142,997 (GRCm39) |
R4284H |
possibly damaging |
Het |
| Fbxw13 |
C |
A |
9: 109,013,299 (GRCm39) |
G130* |
probably null |
Het |
| Fcrl5 |
A |
G |
3: 87,353,771 (GRCm39) |
Y372C |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,835,526 (GRCm39) |
S435P |
probably damaging |
Het |
| Gsg1l |
C |
T |
7: 125,490,852 (GRCm39) |
R284H |
probably benign |
Het |
| Havcr1 |
C |
T |
11: 46,647,052 (GRCm39) |
T162I |
probably damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,039,340 (GRCm39) |
F947S |
probably damaging |
Het |
| Irx1 |
G |
T |
13: 72,111,411 (GRCm39) |
A66E |
probably damaging |
Het |
| Klf11 |
T |
C |
12: 24,705,490 (GRCm39) |
S315P |
probably benign |
Het |
| Kynu |
A |
G |
2: 43,492,312 (GRCm39) |
M190V |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,297,479 (GRCm39) |
T3161A |
probably benign |
Het |
| Macrod1 |
G |
T |
19: 7,173,859 (GRCm39) |
A208S |
probably damaging |
Het |
| Mamdc2 |
G |
A |
19: 23,288,296 (GRCm39) |
H581Y |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,048,444 (GRCm39) |
Y1706N |
probably damaging |
Het |
| Mthfd1l |
G |
A |
10: 4,040,007 (GRCm39) |
R806H |
probably benign |
Het |
| Nags |
T |
A |
11: 102,036,810 (GRCm39) |
V133D |
probably damaging |
Het |
| Nrg3 |
C |
A |
14: 38,092,906 (GRCm39) |
D560Y |
probably damaging |
Het |
| Or4f60 |
C |
A |
2: 111,902,320 (GRCm39) |
G203* |
probably null |
Het |
| Or4k36 |
A |
G |
2: 111,146,461 (GRCm39) |
I212M |
probably benign |
Het |
| Or4p23 |
A |
G |
2: 88,576,488 (GRCm39) |
F248S |
probably damaging |
Het |
| Or5af2 |
T |
C |
11: 58,708,553 (GRCm39) |
S240P |
probably damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pde6d |
T |
C |
1: 86,475,248 (GRCm39) |
|
probably null |
Het |
| Plekhf1 |
T |
C |
7: 37,921,001 (GRCm39) |
E189G |
probably benign |
Het |
| Ppm1b |
A |
T |
17: 85,321,288 (GRCm39) |
I477L |
probably benign |
Het |
| Rnf125 |
T |
C |
18: 21,110,787 (GRCm39) |
V15A |
probably benign |
Het |
| Rnps1 |
C |
T |
17: 24,631,393 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,798,898 (GRCm39) |
I953V |
possibly damaging |
Het |
| Sash1 |
A |
T |
10: 8,618,186 (GRCm39) |
|
probably null |
Het |
| Smarcc2 |
T |
C |
10: 128,324,028 (GRCm39) |
|
probably benign |
Het |
| Stx12 |
T |
A |
4: 132,584,672 (GRCm39) |
E224V |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,221,356 (GRCm39) |
V357A |
probably benign |
Het |
| Synpo2l |
T |
C |
14: 20,712,248 (GRCm39) |
D350G |
probably damaging |
Het |
| Tex15 |
A |
T |
8: 34,064,913 (GRCm39) |
N1448Y |
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,273,227 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
A |
8: 66,965,858 (GRCm39) |
M472K |
possibly damaging |
Het |
| Tmem40 |
T |
C |
6: 115,718,576 (GRCm39) |
D43G |
possibly damaging |
Het |
| Tshz2 |
T |
A |
2: 169,725,871 (GRCm39) |
C156S |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,809,077 (GRCm39) |
|
probably null |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,081 (GRCm39) |
M419V |
probably benign |
Het |
| Wdr73 |
G |
A |
7: 80,550,990 (GRCm39) |
|
probably benign |
Het |
| Zc3hc1 |
C |
T |
6: 30,374,763 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
T |
C |
8: 109,682,664 (GRCm39) |
Y3368H |
unknown |
Het |
| Zfp263 |
G |
A |
16: 3,567,580 (GRCm39) |
E632K |
probably damaging |
Het |
| Zfp266 |
A |
G |
9: 20,412,240 (GRCm39) |
L111P |
probably damaging |
Het |
| Zfp626 |
T |
A |
7: 27,517,587 (GRCm39) |
S189R |
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,206,699 (GRCm39) |
R331G |
possibly damaging |
Het |
| Zkscan5 |
G |
A |
5: 145,157,889 (GRCm39) |
C797Y |
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 |
|
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 |
|
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'- AGGAGCCTGAAGAACTTCCTG -3'
(R):5'- GGTCTATTTTGGGACGAGAAAATG -3'
Sequencing Primer
(F):5'- TCCTGAGAAGGAAACTATTCTGAAAG -3'
(R):5'- GACGAGAAAATGTTTGTGAAATCCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation