Incidental Mutation 'R5421:Rad51ap2'
ID |
426586 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad51ap2
|
Ensembl Gene |
ENSMUSG00000086022 |
Gene Name |
RAD51 associated protein 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5421 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
11506080-11512929 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 11509368 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 915
(K915*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124065]
|
AlphaFold |
G3UW63 |
Predicted Effect |
probably null
Transcript: ENSMUST00000124065
AA Change: K915*
|
SMART Domains |
Protein: ENSMUSP00000128854 Gene: ENSMUSG00000086022 AA Change: K915*
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: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
A |
T |
15: 74,421,876 (GRCm39) |
Q882L |
probably damaging |
Het |
Afdn |
T |
C |
17: 14,052,668 (GRCm39) |
V525A |
probably benign |
Het |
AI987944 |
T |
C |
7: 41,024,200 (GRCm39) |
T263A |
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,363,271 (GRCm39) |
S31G |
probably damaging |
Het |
Asxl1 |
T |
C |
2: 153,241,504 (GRCm39) |
S685P |
probably benign |
Het |
Blnk |
C |
A |
19: 40,956,967 (GRCm39) |
V47F |
probably damaging |
Het |
Bmp4 |
T |
A |
14: 46,623,355 (GRCm39) |
M64L |
probably damaging |
Het |
Bmpr2 |
T |
A |
1: 59,909,577 (GRCm39) |
V1017E |
possibly damaging |
Het |
C1ra |
C |
T |
6: 124,499,749 (GRCm39) |
P645L |
probably benign |
Het |
Cadm2 |
A |
T |
16: 66,568,513 (GRCm39) |
C248* |
probably null |
Het |
Cdk6 |
T |
C |
5: 3,523,120 (GRCm39) |
V180A |
probably damaging |
Het |
Colec12 |
A |
T |
18: 9,858,580 (GRCm39) |
R454S |
probably damaging |
Het |
Dennd3 |
T |
C |
15: 73,438,964 (GRCm39) |
S1111P |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 49,996,186 (GRCm39) |
|
probably null |
Het |
Dnah2 |
G |
A |
11: 69,326,462 (GRCm39) |
T3613I |
probably damaging |
Het |
Elp6 |
A |
G |
9: 110,143,132 (GRCm39) |
Q115R |
probably benign |
Het |
Enpp1 |
A |
G |
10: 24,545,655 (GRCm39) |
Y262H |
probably damaging |
Het |
Far2 |
A |
G |
6: 148,047,690 (GRCm39) |
|
probably null |
Het |
Flnb |
C |
T |
14: 7,926,494 (GRCm38) |
T1846I |
probably damaging |
Het |
Folr2 |
C |
T |
7: 101,489,851 (GRCm39) |
R139H |
probably benign |
Het |
Fxn |
A |
T |
19: 24,254,649 (GRCm39) |
|
probably null |
Het |
Galnt13 |
A |
C |
2: 54,747,908 (GRCm39) |
N263T |
probably damaging |
Het |
Gje1 |
G |
A |
10: 14,592,428 (GRCm39) |
S118L |
probably damaging |
Het |
Htr5a |
G |
T |
5: 28,055,985 (GRCm39) |
W325C |
possibly damaging |
Het |
Itga4 |
T |
A |
2: 79,146,385 (GRCm39) |
Y772* |
probably null |
Het |
Kif12 |
T |
C |
4: 63,089,665 (GRCm39) |
S59G |
probably benign |
Het |
Kifc3 |
C |
T |
8: 95,836,473 (GRCm39) |
R96Q |
probably damaging |
Het |
Klrd1 |
T |
C |
6: 129,575,406 (GRCm39) |
Y191H |
probably damaging |
Het |
Ndst3 |
A |
T |
3: 123,428,008 (GRCm39) |
|
probably null |
Het |
Nek1 |
A |
C |
8: 61,459,711 (GRCm39) |
R6S |
possibly damaging |
Het |
Or4b13 |
G |
A |
2: 90,083,089 (GRCm39) |
T81I |
probably benign |
Het |
Or5p68 |
G |
C |
7: 107,946,182 (GRCm39) |
A2G |
probably benign |
Het |
Or6k8-ps1 |
C |
T |
1: 173,979,861 (GRCm39) |
R260* |
probably null |
Het |
Palld |
C |
T |
8: 61,969,584 (GRCm39) |
E1005K |
probably damaging |
Het |
Ppp2r1a |
T |
A |
17: 21,176,968 (GRCm39) |
Y169N |
probably benign |
Het |
Rad50 |
T |
C |
11: 53,565,773 (GRCm39) |
D960G |
probably benign |
Het |
Rasal2 |
T |
C |
1: 157,126,711 (GRCm39) |
K109R |
probably benign |
Het |
Rc3h1 |
G |
A |
1: 160,779,400 (GRCm39) |
|
probably null |
Het |
Rnf6 |
C |
T |
5: 146,147,339 (GRCm39) |
V560I |
probably benign |
Het |
Samd8 |
A |
G |
14: 21,842,563 (GRCm39) |
D295G |
probably damaging |
Het |
Scart1 |
T |
C |
7: 139,803,813 (GRCm39) |
L337P |
probably damaging |
Het |
Serpinb2 |
T |
C |
1: 107,451,581 (GRCm39) |
Y245H |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc28a3 |
A |
T |
13: 58,722,079 (GRCm39) |
F268L |
possibly damaging |
Het |
Slc7a14 |
T |
C |
3: 31,278,346 (GRCm39) |
T420A |
probably damaging |
Het |
Speer4f2 |
A |
T |
5: 17,579,356 (GRCm39) |
T52S |
possibly damaging |
Het |
Spta1 |
A |
G |
1: 174,043,095 (GRCm39) |
N1414D |
probably damaging |
Het |
Sptbn5 |
A |
G |
2: 119,911,261 (GRCm39) |
|
noncoding transcript |
Het |
Syt9 |
T |
C |
7: 107,024,563 (GRCm39) |
V152A |
probably benign |
Het |
Thoc2l |
A |
T |
5: 104,666,261 (GRCm39) |
N261I |
probably benign |
Het |
Tln1 |
G |
A |
4: 43,533,609 (GRCm39) |
A2315V |
possibly damaging |
Het |
Tox |
C |
A |
4: 6,842,409 (GRCm39) |
M40I |
possibly damaging |
Het |
Ucp1 |
G |
A |
8: 84,017,320 (GRCm39) |
A37T |
probably benign |
Het |
Vapa |
A |
G |
17: 65,902,031 (GRCm39) |
V33A |
possibly damaging |
Het |
Vmn2r110 |
A |
G |
17: 20,803,882 (GRCm39) |
L231S |
probably damaging |
Het |
Vmn2r15 |
C |
T |
5: 109,434,401 (GRCm39) |
A768T |
probably damaging |
Het |
Vmn2r86 |
T |
C |
10: 130,282,805 (GRCm39) |
T604A |
probably benign |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Wnk1 |
A |
G |
6: 119,929,779 (GRCm39) |
V1246A |
probably damaging |
Het |
Wwc1 |
T |
G |
11: 35,766,890 (GRCm39) |
D455A |
possibly damaging |
Het |
Wwc1 |
C |
T |
11: 35,801,123 (GRCm39) |
E105K |
possibly damaging |
Het |
Zfp426 |
G |
A |
9: 20,382,015 (GRCm39) |
A309V |
probably damaging |
Het |
Zfp626 |
T |
A |
7: 27,517,335 (GRCm39) |
N105K |
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 |
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 |
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'- GAGAAAGCTCAGGAGTCTTATTTAAG -3'
(R):5'- CTGTTCAGAGGACACCTTCC -3'
Sequencing Primer
(F):5'- AGCTCAGGAGTCTTATTTAAGTTTTC -3'
(R):5'- CAAGGTAGTTTCACCATGC -3'
|
Posted On |
2016-09-01 |