Incidental Mutation 'R7105:Rad51ap2'
ID |
551128 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad51ap2
|
Ensembl Gene |
ENSMUSG00000086022 |
Gene Name |
RAD51 associated protein 2 |
Synonyms |
|
MMRRC Submission |
045197-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7105 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
11506080-11512929 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 11508278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 733
(D733E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124065]
|
AlphaFold |
G3UW63 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124065
AA Change: D733E
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000128854 Gene: ENSMUSG00000086022 AA Change: D733E
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
96% (65/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,347,842 (GRCm39) |
I3565N |
probably damaging |
Het |
Adam8 |
T |
C |
7: 139,569,968 (GRCm39) |
E99G |
probably benign |
Het |
Adnp2 |
A |
C |
18: 80,171,366 (GRCm39) |
H1014Q |
possibly damaging |
Het |
Agbl4 |
T |
A |
4: 111,423,920 (GRCm39) |
N315K |
probably benign |
Het |
Ankrd33b |
G |
T |
15: 31,305,214 (GRCm39) |
N183K |
probably damaging |
Het |
Arhgef39 |
A |
G |
4: 43,498,913 (GRCm39) |
S113P |
possibly damaging |
Het |
Bdp1 |
G |
A |
13: 100,206,689 (GRCm39) |
P618S |
probably damaging |
Het |
Bhlhe40 |
C |
T |
6: 108,641,997 (GRCm39) |
P314S |
possibly damaging |
Het |
Birc2 |
A |
C |
9: 7,819,442 (GRCm39) |
I490S |
probably damaging |
Het |
Blm |
T |
C |
7: 80,149,516 (GRCm39) |
I698V |
probably benign |
Het |
C4b |
G |
A |
17: 34,949,885 (GRCm39) |
T1433M |
possibly damaging |
Het |
Car12 |
A |
G |
9: 66,659,688 (GRCm39) |
T238A |
probably damaging |
Het |
Cend1 |
G |
A |
7: 141,007,565 (GRCm39) |
P85L |
probably benign |
Het |
Cftr |
A |
T |
6: 18,318,971 (GRCm39) |
D1337V |
probably damaging |
Het |
Chsy3 |
T |
A |
18: 59,309,491 (GRCm39) |
M248K |
probably damaging |
Het |
Chtf8 |
A |
G |
8: 107,611,883 (GRCm39) |
F352S |
probably damaging |
Het |
Cimip4 |
T |
A |
15: 78,270,318 (GRCm39) |
D150V |
possibly damaging |
Het |
Csf2ra |
T |
C |
19: 61,213,458 (GRCm39) |
D384G |
possibly damaging |
Het |
Ctnnbip1 |
T |
C |
4: 149,630,937 (GRCm39) |
S59P |
probably benign |
Het |
Cyth3 |
A |
G |
5: 143,693,027 (GRCm39) |
N312D |
probably benign |
Het |
Dtnb |
T |
C |
12: 3,698,391 (GRCm39) |
|
probably null |
Het |
Duox2 |
A |
G |
2: 122,120,033 (GRCm39) |
S826P |
possibly damaging |
Het |
Enthd1 |
C |
T |
15: 80,393,410 (GRCm39) |
A273T |
probably benign |
Het |
Gm3138 |
T |
C |
14: 15,632,304 (GRCm39) |
V159A |
possibly damaging |
Het |
Hhip |
T |
C |
8: 80,701,638 (GRCm39) |
D632G |
probably benign |
Het |
Igfn1 |
A |
T |
1: 135,911,956 (GRCm39) |
C114S |
probably benign |
Het |
Islr2 |
T |
C |
9: 58,105,097 (GRCm39) |
D765G |
probably damaging |
Het |
Klf14 |
TCCCC |
TCCC |
6: 30,935,476 (GRCm39) |
|
probably null |
Het |
Mapk12 |
G |
A |
15: 89,015,361 (GRCm39) |
P362L |
probably benign |
Het |
Msi1 |
T |
G |
5: 115,571,929 (GRCm39) |
F96V |
probably damaging |
Het |
Mthfd1l |
T |
C |
10: 4,053,261 (GRCm39) |
V870A |
probably benign |
Het |
Nfat5 |
T |
C |
8: 108,095,823 (GRCm39) |
S1355P |
possibly damaging |
Het |
Oplah |
T |
C |
15: 76,181,887 (GRCm39) |
N1079D |
probably damaging |
Het |
Or2ah1 |
G |
T |
2: 85,654,224 (GRCm39) |
R303M |
probably benign |
Het |
Osbpl1a |
T |
A |
18: 12,900,020 (GRCm39) |
I645F |
probably benign |
Het |
Pank4 |
T |
C |
4: 155,064,624 (GRCm39) |
S728P |
probably benign |
Het |
Parp2 |
TTGCCATAAGTGCTAAATGAAGCC |
T |
14: 51,047,521 (GRCm39) |
|
probably null |
Het |
Piezo1 |
A |
G |
8: 123,208,857 (GRCm39) |
I2503T |
unknown |
Het |
Plekhg6 |
A |
G |
6: 125,355,768 (GRCm39) |
L12P |
probably damaging |
Het |
Plekhs1 |
T |
A |
19: 56,465,647 (GRCm39) |
F204Y |
probably damaging |
Het |
Pramel26 |
T |
C |
4: 143,537,341 (GRCm39) |
N330S |
probably benign |
Het |
Pramel32 |
G |
A |
4: 88,548,339 (GRCm39) |
S22F |
probably damaging |
Het |
Prep |
T |
A |
10: 45,002,159 (GRCm39) |
I438N |
probably benign |
Het |
Prss58 |
T |
C |
6: 40,874,700 (GRCm39) |
H47R |
probably damaging |
Het |
Robo1 |
A |
T |
16: 72,539,049 (GRCm39) |
I31F |
probably damaging |
Het |
Setd2 |
A |
G |
9: 110,377,328 (GRCm39) |
Y381C |
probably damaging |
Het |
Slc47a2 |
A |
G |
11: 61,233,269 (GRCm39) |
V87A |
probably benign |
Het |
Slc5a9 |
T |
C |
4: 111,755,892 (GRCm39) |
N2S |
probably benign |
Het |
Spata13 |
A |
G |
14: 60,991,319 (GRCm39) |
D1024G |
probably damaging |
Het |
Stat1 |
T |
G |
1: 52,190,408 (GRCm39) |
N554K |
probably benign |
Het |
Suclg2 |
T |
C |
6: 95,572,635 (GRCm39) |
D110G |
possibly damaging |
Het |
Sult1c2 |
T |
A |
17: 54,280,917 (GRCm39) |
|
probably null |
Het |
Taf5l |
A |
G |
8: 124,729,951 (GRCm39) |
I246T |
probably damaging |
Het |
Tcof1 |
A |
T |
18: 60,976,368 (GRCm39) |
D80E |
probably damaging |
Het |
Tmem233 |
T |
C |
5: 116,221,057 (GRCm39) |
Y63C |
probably damaging |
Het |
Tshz3 |
A |
G |
7: 36,469,181 (GRCm39) |
E390G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,560,610 (GRCm39) |
T29264A |
possibly damaging |
Het |
Ubr5 |
T |
C |
15: 38,009,019 (GRCm39) |
T1065A |
|
Het |
Vcp |
A |
G |
4: 42,985,991 (GRCm39) |
V341A |
probably damaging |
Het |
Vmn1r176 |
A |
T |
7: 23,534,748 (GRCm39) |
L135* |
probably null |
Het |
Vmn1r57 |
T |
A |
7: 5,223,499 (GRCm39) |
I8N |
probably damaging |
Het |
Ythdc2 |
C |
T |
18: 44,967,630 (GRCm39) |
P209S |
probably damaging |
Het |
Zfp213 |
A |
T |
17: 23,777,178 (GRCm39) |
V288D |
probably benign |
Het |
Zfp362 |
T |
C |
4: 128,668,319 (GRCm39) |
I418V |
probably damaging |
Het |
Zfp707 |
C |
A |
15: 75,846,595 (GRCm39) |
T215K |
|
Het |
Zfp957 |
G |
C |
14: 79,450,402 (GRCm39) |
R466G |
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 |
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 |
|
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'- ACTCTGAAGATCAGCTTGGAG -3'
(R):5'- TGTCATCCTGGTACTTGGAATTTC -3'
Sequencing Primer
(F):5'- CTCTGAAGATCAGCTTGGAGAATCTG -3'
(R):5'- CATGAAACATTCGAAGTTCTTCAAG -3'
|
Posted On |
2019-05-15 |