Mutagenetix > Incidental Mutation

Incidental Mutation 'R6064:Rad51ap2'

483981

Institutional Source

Beutler Lab

Gene Symbol

Rad51ap2

Ensembl Gene

ENSMUSG00000086022

Gene Name

RAD51 associated protein 2

Synonyms

MMRRC Submission

044228-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6064 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11506080-11512929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11507418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 447 (Y447N)

Ref Sequence

ENSEMBL: ENSMUSP00000128854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124065]

AlphaFold

G3UW63

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124065
AA Change: Y447N

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: Y447N

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: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	C	T	5: 50,117,667 (GRCm39)	D1294N	probably damaging	Het
Atf1	A	G	15: 100,150,029 (GRCm39)	T92A	probably benign	Het
Bach1	A	G	16: 87,526,752 (GRCm39)	D738G	probably damaging	Het
Catsper3	T	C	13: 55,954,065 (GRCm39)	F278L	probably damaging	Het
Chsy3	GT	G	18: 59,309,238 (GRCm39)	163	probably null	Het
Cmya5	T	A	13: 93,226,157 (GRCm39)	N2977I	probably damaging	Het
Cnbd1	T	A	4: 18,895,084 (GRCm39)	E219D	probably benign	Het
Dst	A	G	1: 34,233,132 (GRCm39)	D3556G	probably damaging	Het
Duox1	A	G	2: 122,151,243 (GRCm39)	E306G	probably benign	Het
Fstl5	T	A	3: 76,229,605 (GRCm39)	F135L	probably benign	Het
Fyb1	A	C	15: 6,668,349 (GRCm39)	K514T	probably damaging	Het
Gsap	T	A	5: 21,434,223 (GRCm39)	C280S	possibly damaging	Het
Lrig1	T	C	6: 94,603,428 (GRCm39)	E240G	probably damaging	Het
Macc1	A	T	12: 119,409,400 (GRCm39)	H56L	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,234,640 (GRCm39)	R696G	probably damaging	Het
Nup210	T	C	6: 91,032,273 (GRCm39)	I32V	probably benign	Het
Or52n2c	C	T	7: 104,574,599 (GRCm39)	R124H	probably benign	Het
Or5d16	A	G	2: 87,773,828 (GRCm39)	M48T	probably benign	Het
Or5h17	T	G	16: 58,820,186 (GRCm39)	I46S	probably damaging	Het
Ovch2	T	C	7: 107,395,779 (GRCm39)	T80A	probably damaging	Het
Rb1cc1	A	G	1: 6,319,958 (GRCm39)	T1126A	probably benign	Het
Scgb1b10	T	C	7: 31,800,627 (GRCm39)	L72S	probably damaging	Het
Slc25a33	A	G	4: 149,836,921 (GRCm39)	V141A	probably benign	Het
Tbx21	T	C	11: 97,005,737 (GRCm39)	Y76C	probably damaging	Het
Tmem235	T	C	11: 117,753,764 (GRCm39)	V107A	possibly damaging	Het
Vnn1	G	T	10: 23,770,807 (GRCm39)	A12S	probably benign	Het
Zfp606	T	G	7: 12,214,960 (GRCm39)	W63G	possibly damaging	Het
Zfp788	T	A	7: 41,297,878 (GRCm39)	F119L	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
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

Posted On

2017-07-14