Incidental Mutation 'R2038:Rad51ap2'
| ID |
225342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad51ap2
|
| Ensembl Gene |
ENSMUSG00000086022 |
| Gene Name |
RAD51 associated protein 2 |
| Synonyms |
|
| MMRRC Submission |
040045-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2038 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
11506080-11512929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11507025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 316
(S316P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124065]
|
| AlphaFold |
G3UW63 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124065
AA Change: S316P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: S316P
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
T |
C |
8: 125,389,762 (GRCm39) |
Y54C |
probably damaging |
Het |
| Adgrf4 |
A |
T |
17: 42,978,754 (GRCm39) |
H196Q |
probably damaging |
Het |
| Astn1 |
T |
G |
1: 158,484,690 (GRCm39) |
S918A |
probably benign |
Het |
| Cd79a |
A |
T |
7: 24,598,782 (GRCm39) |
K110N |
probably benign |
Het |
| Cdc34b |
C |
T |
11: 94,633,114 (GRCm39) |
Q105* |
probably null |
Het |
| Cdh23 |
T |
C |
10: 60,148,366 (GRCm39) |
D2667G |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,224,775 (GRCm39) |
G168R |
probably damaging |
Het |
| Col8a2 |
T |
C |
4: 126,205,108 (GRCm39) |
|
probably benign |
Het |
| Ddx27 |
G |
A |
2: 166,875,675 (GRCm39) |
E669K |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,977,255 (GRCm39) |
I2898F |
probably damaging |
Het |
| Dus2 |
T |
C |
8: 106,775,294 (GRCm39) |
Y274H |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 6,967,226 (GRCm39) |
S4073P |
probably damaging |
Het |
| Dynlrb2 |
G |
A |
8: 117,241,549 (GRCm39) |
R31Q |
possibly damaging |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Fhdc1 |
A |
T |
3: 84,351,868 (GRCm39) |
L1119Q |
probably benign |
Het |
| H2-T10 |
T |
C |
17: 36,430,317 (GRCm39) |
K212E |
probably benign |
Het |
| H60b |
A |
T |
10: 22,162,114 (GRCm39) |
N113I |
probably benign |
Het |
| Hace1 |
A |
C |
10: 45,576,721 (GRCm39) |
K798Q |
probably benign |
Het |
| Hdac7 |
C |
T |
15: 97,696,151 (GRCm39) |
R631H |
probably damaging |
Het |
| Kat7 |
T |
A |
11: 95,190,928 (GRCm39) |
I153F |
probably benign |
Het |
| Lman1 |
T |
C |
18: 66,131,681 (GRCm39) |
T101A |
probably benign |
Het |
| Mapk8 |
A |
T |
14: 33,110,893 (GRCm39) |
C245* |
probably null |
Het |
| Mfhas1 |
T |
A |
8: 36,058,431 (GRCm39) |
W969R |
probably damaging |
Het |
| Mlxipl |
A |
T |
5: 135,135,853 (GRCm39) |
D26V |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,265,016 (GRCm39) |
V53A |
probably benign |
Het |
| Msl2 |
C |
A |
9: 100,979,183 (GRCm39) |
A519D |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,245,503 (GRCm39) |
S176G |
probably benign |
Het |
| Ninl |
T |
A |
2: 150,817,763 (GRCm39) |
K134* |
probably null |
Het |
| Or10d1 |
A |
G |
9: 39,484,283 (GRCm39) |
S91P |
probably damaging |
Het |
| Or1e25 |
T |
A |
11: 73,494,239 (GRCm39) |
Y278N |
probably damaging |
Het |
| Or4a68 |
C |
A |
2: 89,269,689 (GRCm39) |
M311I |
probably benign |
Het |
| Pabpn1 |
T |
G |
14: 55,134,609 (GRCm39) |
I250S |
probably damaging |
Het |
| Ppp4r4 |
G |
A |
12: 103,542,539 (GRCm39) |
|
probably null |
Het |
| Scn7a |
C |
A |
2: 66,567,780 (GRCm39) |
W271C |
probably damaging |
Het |
| Set |
T |
C |
2: 29,960,212 (GRCm39) |
S182P |
probably benign |
Het |
| Sez6l |
T |
C |
5: 112,620,618 (GRCm39) |
T321A |
possibly damaging |
Het |
| Sfpq |
A |
T |
4: 126,915,295 (GRCm39) |
H29L |
unknown |
Het |
| Slc33a1 |
A |
G |
3: 63,855,577 (GRCm39) |
L356P |
probably damaging |
Het |
| Sptbn1 |
C |
G |
11: 30,109,293 (GRCm39) |
|
probably null |
Het |
| Srrd |
C |
T |
5: 112,486,316 (GRCm39) |
G179D |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,940,456 (GRCm39) |
S312P |
probably damaging |
Het |
| Tgfbrap1 |
A |
T |
1: 43,093,794 (GRCm39) |
L566* |
probably null |
Het |
| Tln2 |
T |
A |
9: 67,304,935 (GRCm39) |
M1L |
probably benign |
Het |
| Ttc27 |
T |
C |
17: 75,163,497 (GRCm39) |
F702L |
probably benign |
Het |
| Vmn2r54 |
C |
T |
7: 12,363,637 (GRCm39) |
G419R |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,884,887 (GRCm39) |
S3187G |
probably damaging |
Het |
| Vps13d |
C |
A |
4: 144,907,685 (GRCm39) |
|
probably null |
Het |
| Vps35l |
T |
C |
7: 118,411,097 (GRCm39) |
F677L |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 29,688,507 (GRCm39) |
E23V |
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 |
|
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 |
|
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'- GCCAAACCTAGCTATTTTAGAGATAGC -3'
(R):5'- AGATCTGTCACAGTCCAAGTTTTG -3'
Sequencing Primer
(F):5'- CAAGGGATTTAAATAGCAACATGTCC -3'
(R):5'- CTGTCACAGTCCAAGTTTTGAAATTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation