Incidental Mutation 'R4594:Rad51ap2'
| ID |
344277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad51ap2
|
| Ensembl Gene |
ENSMUSG00000086022 |
| Gene Name |
RAD51 associated protein 2 |
| Synonyms |
|
| MMRRC Submission |
041810-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4594 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
11506080-11512929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11507881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 601
(V601A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124065]
|
| AlphaFold |
G3UW63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124065
AA Change: V601A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: V601A
| 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 |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,625,754 (GRCm39) |
T64A |
probably damaging |
Het |
| 4933427I04Rik |
A |
T |
4: 123,754,331 (GRCm39) |
T82S |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,832,743 (GRCm39) |
I264N |
probably damaging |
Het |
| Alpk1 |
G |
A |
3: 127,477,203 (GRCm39) |
A285V |
probably damaging |
Het |
| Auh |
T |
C |
13: 53,067,002 (GRCm39) |
|
probably benign |
Het |
| Cacna2d3 |
A |
G |
14: 28,704,303 (GRCm39) |
F826S |
probably benign |
Het |
| Ccdc54 |
G |
T |
16: 50,410,380 (GRCm39) |
Y295* |
probably null |
Het |
| Ctnna3 |
G |
A |
10: 64,421,858 (GRCm39) |
V551I |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 87,223,473 (GRCm39) |
C347Y |
probably damaging |
Het |
| Dnajb5 |
A |
G |
4: 42,950,842 (GRCm39) |
|
probably benign |
Het |
| Dscam |
A |
T |
16: 96,519,196 (GRCm39) |
I847K |
possibly damaging |
Het |
| Fam8a1 |
T |
C |
13: 46,824,742 (GRCm39) |
F243S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,175,578 (GRCm39) |
I1712V |
possibly damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,063,852 (GRCm39) |
V793A |
probably damaging |
Het |
| Got2 |
T |
C |
8: 96,598,814 (GRCm39) |
E196G |
probably benign |
Het |
| Gsk3b |
G |
A |
16: 37,991,063 (GRCm39) |
C107Y |
possibly damaging |
Het |
| H2-M5 |
T |
C |
17: 37,298,697 (GRCm39) |
T250A |
possibly damaging |
Het |
| Il17f |
T |
A |
1: 20,848,026 (GRCm39) |
T151S |
probably damaging |
Het |
| Ints12 |
A |
G |
3: 132,814,629 (GRCm39) |
N279D |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kynu |
T |
A |
2: 43,569,902 (GRCm39) |
S395T |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,597,147 (GRCm39) |
T226I |
probably benign |
Het |
| Mael |
T |
A |
1: 166,063,056 (GRCm39) |
Q132L |
probably damaging |
Het |
| Mcpt1 |
A |
T |
14: 56,256,109 (GRCm39) |
R49S |
probably benign |
Het |
| Meioc |
G |
T |
11: 102,564,992 (GRCm39) |
G203C |
probably damaging |
Het |
| Mfsd4b1 |
A |
G |
10: 39,883,313 (GRCm39) |
S46P |
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Mx2 |
C |
A |
16: 97,348,632 (GRCm39) |
Y268* |
probably null |
Het |
| Myom1 |
A |
G |
17: 71,407,069 (GRCm39) |
D1064G |
possibly damaging |
Het |
| Nek11 |
A |
G |
9: 105,270,046 (GRCm39) |
|
probably null |
Het |
| Nfe2 |
A |
G |
15: 103,157,232 (GRCm39) |
L253S |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,173,424 (GRCm39) |
I478T |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,230,782 (GRCm39) |
D529G |
probably damaging |
Het |
| Oard1 |
T |
C |
17: 48,722,267 (GRCm39) |
S88P |
possibly damaging |
Het |
| Or11g25 |
A |
G |
14: 50,723,619 (GRCm39) |
R235G |
probably benign |
Het |
| Or2p2 |
C |
T |
13: 21,256,692 (GRCm39) |
V260I |
probably benign |
Het |
| Or4n4 |
G |
A |
14: 50,519,140 (GRCm39) |
T190I |
probably benign |
Het |
| Or51k1 |
T |
C |
7: 103,661,624 (GRCm39) |
D95G |
probably benign |
Het |
| Or52e5 |
T |
C |
7: 104,718,797 (GRCm39) |
V41A |
probably benign |
Het |
| Or6k6 |
G |
T |
1: 173,944,886 (GRCm39) |
T232N |
probably damaging |
Het |
| Or8b1 |
A |
C |
9: 38,400,057 (GRCm39) |
H244P |
probably damaging |
Het |
| Osgin1 |
C |
T |
8: 120,171,992 (GRCm39) |
T262I |
possibly damaging |
Het |
| Plcb4 |
A |
T |
2: 135,844,519 (GRCm39) |
M146L |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,585,830 (GRCm39) |
E2456V |
possibly damaging |
Het |
| Ptk2 |
G |
A |
15: 73,078,045 (GRCm39) |
A1004V |
probably damaging |
Het |
| Rab15 |
G |
A |
12: 76,847,445 (GRCm39) |
|
probably benign |
Het |
| Rasef |
T |
A |
4: 73,698,626 (GRCm39) |
I12F |
possibly damaging |
Het |
| Rdh14 |
T |
A |
12: 10,444,567 (GRCm39) |
N139K |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,391,717 (GRCm39) |
V46E |
probably damaging |
Het |
| Rskr |
T |
A |
11: 78,182,473 (GRCm39) |
V94D |
possibly damaging |
Het |
| Slmap |
A |
T |
14: 26,186,772 (GRCm39) |
L68H |
probably damaging |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Tmem132e |
T |
C |
11: 82,325,894 (GRCm39) |
I206T |
possibly damaging |
Het |
| Trappc8 |
A |
T |
18: 20,970,005 (GRCm39) |
V995E |
probably benign |
Het |
| Vmn2r12 |
A |
C |
5: 109,234,301 (GRCm39) |
I637S |
probably damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,294,231 (GRCm39) |
F773L |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,613,924 (GRCm39) |
D548V |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,336,620 (GRCm39) |
N1590D |
probably benign |
Het |
| Zbtb6 |
A |
T |
2: 37,319,054 (GRCm39) |
N291K |
possibly damaging |
Het |
| Zfp119a |
G |
A |
17: 56,173,325 (GRCm39) |
R173C |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,355,008 (GRCm39) |
L335P |
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 |
|
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 |
|
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'- GAGTACAAGATGTGCCAAACTAC -3'
(R):5'- CAATAGCGTTATGGGCTTGAAAAC -3'
Sequencing Primer
(F):5'- ATGTGGAGTCTGATCCTC -3'
(R):5'- AGCGTTATGGGCTTGAAAACTACTTG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation