Incidental Mutation 'R6488:Rad51ap2'
ID |
522552 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad51ap2
|
Ensembl Gene |
ENSMUSG00000086022 |
Gene Name |
RAD51 associated protein 2 |
Synonyms |
|
MMRRC Submission |
044620-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6488 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
11506080-11512929 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 11508161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 694
(S694R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124065]
|
AlphaFold |
G3UW63 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124065
AA Change: S694R
PolyPhen 2
Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000128854 Gene: ENSMUSG00000086022 AA Change: S694R
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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
Validation Efficiency |
96% (65/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
C |
T |
7: 41,275,298 (GRCm39) |
Q334* |
probably null |
Het |
Abhd15 |
T |
C |
11: 77,406,848 (GRCm39) |
F275S |
possibly damaging |
Het |
Adamts7 |
A |
G |
9: 90,053,535 (GRCm39) |
T27A |
probably benign |
Het |
Ankar |
A |
G |
1: 72,720,967 (GRCm39) |
|
probably null |
Het |
Ap2a2 |
T |
C |
7: 141,182,220 (GRCm39) |
V183A |
probably benign |
Het |
Arhgef37 |
G |
A |
18: 61,651,123 (GRCm39) |
A134V |
probably benign |
Het |
Col3a1 |
C |
A |
1: 45,370,694 (GRCm39) |
|
probably benign |
Het |
Cplx3 |
A |
G |
9: 57,527,926 (GRCm39) |
S10P |
possibly damaging |
Het |
Cxcr5 |
A |
G |
9: 44,425,276 (GRCm39) |
V127A |
probably damaging |
Het |
Eif4b |
T |
A |
15: 102,001,422 (GRCm39) |
|
probably benign |
Het |
Ext2 |
A |
G |
2: 93,636,430 (GRCm39) |
V228A |
probably damaging |
Het |
Fam83h |
T |
C |
15: 75,873,902 (GRCm39) |
E1145G |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,792,963 (GRCm39) |
D989G |
probably damaging |
Het |
Fchsd1 |
T |
C |
18: 38,100,321 (GRCm39) |
|
probably null |
Het |
Fcnb |
T |
C |
2: 27,968,301 (GRCm39) |
K219E |
probably damaging |
Het |
Fndc7 |
T |
C |
3: 108,777,891 (GRCm39) |
E355G |
probably damaging |
Het |
Glis3 |
T |
C |
19: 28,276,253 (GRCm39) |
H746R |
probably benign |
Het |
Glod4 |
A |
G |
11: 76,128,611 (GRCm39) |
V74A |
probably damaging |
Het |
Gpc6 |
T |
C |
14: 118,202,125 (GRCm39) |
I445T |
possibly damaging |
Het |
Hdlbp |
T |
C |
1: 93,355,946 (GRCm39) |
D337G |
probably damaging |
Het |
Hnf1a |
T |
C |
5: 115,094,020 (GRCm39) |
T190A |
probably benign |
Het |
Iqgap1 |
G |
C |
7: 80,380,074 (GRCm39) |
T1129R |
probably benign |
Het |
Kcnc3 |
T |
C |
7: 44,244,606 (GRCm39) |
F299L |
possibly damaging |
Het |
Kif26b |
T |
C |
1: 178,357,138 (GRCm39) |
V4A |
unknown |
Het |
Kifbp |
C |
A |
10: 62,395,437 (GRCm39) |
|
probably null |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Krtap4-1 |
G |
T |
11: 99,518,903 (GRCm39) |
R36S |
unknown |
Het |
Lrpprc |
T |
C |
17: 85,058,781 (GRCm39) |
N693S |
probably damaging |
Het |
Lrrc49 |
A |
T |
9: 60,509,916 (GRCm39) |
F157L |
probably damaging |
Het |
Mettl22 |
T |
C |
16: 8,305,225 (GRCm39) |
F293L |
probably damaging |
Het |
Mga |
T |
A |
2: 119,791,388 (GRCm39) |
N2424K |
probably damaging |
Het |
Mgat4f |
T |
A |
1: 134,318,626 (GRCm39) |
V466D |
probably damaging |
Het |
Mpdz |
G |
T |
4: 81,205,970 (GRCm39) |
A1784E |
probably benign |
Het |
Mpv17l |
G |
A |
16: 13,764,452 (GRCm39) |
|
probably null |
Het |
Mtus1 |
G |
A |
8: 41,494,545 (GRCm39) |
S29L |
possibly damaging |
Het |
Myo15a |
A |
T |
11: 60,369,313 (GRCm39) |
H691L |
possibly damaging |
Het |
Nbea |
T |
C |
3: 55,625,264 (GRCm39) |
T2276A |
probably damaging |
Het |
Npas4 |
A |
G |
19: 5,036,011 (GRCm39) |
S718P |
probably damaging |
Het |
Ntrk2 |
T |
A |
13: 59,009,170 (GRCm39) |
N320K |
possibly damaging |
Het |
Nup214 |
T |
A |
2: 31,881,384 (GRCm39) |
I414N |
possibly damaging |
Het |
Oas2 |
A |
G |
5: 120,876,428 (GRCm39) |
F15S |
probably damaging |
Het |
Or52z15 |
T |
C |
7: 103,332,285 (GRCm39) |
I110T |
probably damaging |
Het |
Or5b118 |
T |
C |
19: 13,448,981 (GRCm39) |
Y216H |
probably damaging |
Het |
Pabpc6 |
A |
G |
17: 9,888,528 (GRCm39) |
Y8H |
probably damaging |
Het |
Pbx1 |
T |
A |
1: 168,018,964 (GRCm39) |
N294Y |
probably damaging |
Het |
Pcyt1a |
T |
C |
16: 32,285,899 (GRCm39) |
M190T |
probably damaging |
Het |
Pogk |
T |
C |
1: 166,226,991 (GRCm39) |
I387V |
possibly damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,152,741 (GRCm39) |
L294P |
probably benign |
Het |
Pramel51 |
T |
C |
12: 88,144,357 (GRCm39) |
H152R |
possibly damaging |
Het |
Ptprn2 |
T |
A |
12: 116,835,658 (GRCm39) |
I331K |
probably benign |
Het |
Ptpro |
T |
G |
6: 137,370,673 (GRCm39) |
Y591* |
probably null |
Het |
Ptprz1 |
T |
A |
6: 23,001,516 (GRCm39) |
L1202* |
probably null |
Het |
Rab37 |
A |
G |
11: 115,048,789 (GRCm39) |
T73A |
probably benign |
Het |
Rb1cc1 |
T |
A |
1: 6,340,951 (GRCm39) |
D148E |
probably damaging |
Het |
Rraga |
G |
A |
4: 86,494,565 (GRCm39) |
R137H |
probably damaging |
Het |
Serpinf2 |
A |
G |
11: 75,328,329 (GRCm39) |
V73A |
probably benign |
Het |
Siglec1 |
T |
C |
2: 130,923,227 (GRCm39) |
N506S |
probably damaging |
Het |
Slc35e4 |
T |
C |
11: 3,862,602 (GRCm39) |
T196A |
possibly damaging |
Het |
St6galnac3 |
C |
T |
3: 153,117,394 (GRCm39) |
A110T |
probably damaging |
Het |
Thsd1 |
T |
C |
8: 22,733,733 (GRCm39) |
V260A |
probably benign |
Het |
Tpbg |
T |
A |
9: 85,726,538 (GRCm39) |
V169D |
possibly damaging |
Het |
Trav16n |
A |
G |
14: 53,589,042 (GRCm39) |
E106G |
probably benign |
Het |
Vmn1r219 |
T |
C |
13: 23,347,135 (GRCm39) |
I108T |
probably benign |
Het |
Vmn2r50 |
T |
C |
7: 9,771,644 (GRCm39) |
I686V |
probably damaging |
Het |
Zdhhc20 |
C |
T |
14: 58,078,289 (GRCm39) |
R329K |
probably benign |
Het |
Zfp64 |
A |
G |
2: 168,777,129 (GRCm39) |
|
probably null |
Het |
Zfp941 |
C |
T |
7: 140,392,663 (GRCm39) |
R232H |
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 |
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'- TCACACAGTGACCAGATTAATGC -3'
(R):5'- CCCACTTGAGTCACTTTCAAATTG -3'
Sequencing Primer
(F):5'- CTATGGCGATAACTCTGAAGATCAGC -3'
(R):5'- AATGCAGACTCATTCTTTGGATG -3'
|
Posted On |
2018-06-06 |