Mutagenetix > Incidental Mutation

Incidental Mutation 'R6282:Rad51ap2'

508011

Institutional Source

Beutler Lab

Gene Symbol

Rad51ap2

Ensembl Gene

ENSMUSG00000086022

Gene Name

RAD51 associated protein 2

Synonyms

MMRRC Submission

044452-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11506080-11512929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11507560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 494 (H494L)

Ref Sequence

ENSEMBL: ENSMUSP00000128854 (fasta)

Gene Model

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

AlphaFold

G3UW63

Predicted Effect

probably benign
Transcript: ENSMUST00000124065
AA Change: H494L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: H494L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,690,781 (GRCm39)	L185Q	possibly damaging	Het
Abca6	A	T	11: 110,099,650 (GRCm39)	C966S	probably damaging	Het
Atp13a4	A	T	16: 29,252,822 (GRCm39)	I708N	probably benign	Het
Axin1	C	G	17: 26,362,011 (GRCm39)	D118E	probably damaging	Het
Bace2	A	T	16: 97,216,297 (GRCm39)	I297F	probably damaging	Het
Ccdc30	T	A	4: 119,181,214 (GRCm39)	D649V	probably damaging	Het
Cd180	G	A	13: 102,830,265 (GRCm39)	A20T	possibly damaging	Het
Cdk18	T	C	1: 132,047,758 (GRCm39)	D112G	probably damaging	Het
Cuedc1	A	G	11: 88,074,228 (GRCm39)	N254S	probably damaging	Het
Dnah7a	T	C	1: 53,542,760 (GRCm39)	H2470R	probably damaging	Het
Drap1	G	A	19: 5,474,464 (GRCm39)		probably null	Het
Fbxo5	T	A	10: 5,751,216 (GRCm39)	K257M	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm12790	A	G	4: 101,824,713 (GRCm39)	V185A	possibly damaging	Het
Gm7361	A	G	5: 26,465,411 (GRCm39)	N136S	probably benign	Het
Il10ra	C	A	9: 45,171,703 (GRCm39)	C255F	probably damaging	Het
Insyn2b	A	G	11: 34,352,819 (GRCm39)	D287G	possibly damaging	Het
Itgam	A	T	7: 127,684,114 (GRCm39)	T340S	probably benign	Het
Ktn1	A	T	14: 47,901,428 (GRCm39)	N62I	probably damaging	Het
Ldb2	A	G	5: 44,690,007 (GRCm39)	L204P	probably damaging	Het
Map2k4	T	C	11: 65,597,842 (GRCm39)	T90A	possibly damaging	Het
Mettl3	A	T	14: 52,535,428 (GRCm39)	D287E	probably benign	Het
Mier2	A	G	10: 79,380,576 (GRCm39)	F278S	probably damaging	Het
Mis18bp1	A	G	12: 65,195,937 (GRCm39)	M609T	probably benign	Het
Myo1d	A	T	11: 80,448,338 (GRCm39)	V929D	probably damaging	Het
Naprt	A	T	15: 75,763,828 (GRCm39)	M364K	probably benign	Het
Nod2	T	A	8: 89,397,088 (GRCm39)	C833S	probably benign	Het
Nrip3	C	T	7: 109,362,686 (GRCm39)		probably null	Het
Ntsr2	A	G	12: 16,708,426 (GRCm39)	Y320C	probably damaging	Het
Or14j8	G	A	17: 38,263,315 (GRCm39)	S200F	possibly damaging	Het
Or4p7	C	A	2: 88,221,877 (GRCm39)	C95*	probably null	Het
Or51h1	G	A	7: 102,308,854 (GRCm39)	M275I	probably benign	Het
Osbpl3	A	T	6: 50,325,063 (GRCm39)		probably null	Het
Pcdhb3	C	T	18: 37,434,699 (GRCm39)	R222C	probably damaging	Het
Pik3cd	G	T	4: 149,744,200 (GRCm39)	R184S	probably benign	Het
Pramel32	T	C	4: 88,548,291 (GRCm39)	E38G	probably damaging	Het
Rad50	A	T	11: 53,560,597 (GRCm39)		probably null	Het
Rbm25	T	C	12: 83,722,863 (GRCm39)	M762T	probably damaging	Het
Sars1	G	T	3: 108,335,590 (GRCm39)	S338*	probably null	Het
Usp35	T	C	7: 96,975,155 (GRCm39)	E6G	probably damaging	Het
Vash2	T	C	1: 190,692,422 (GRCm39)	Y251C	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr20	T	A	12: 110,763,443 (GRCm39)		probably benign	Het
Wfdc1	G	A	8: 120,406,146 (GRCm39)	C87Y	probably damaging	Het
Zfp985	T	A	4: 147,667,805 (GRCm39)	H224Q	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
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'- TCAAAACTTGGACTGTGACAGATC -3'
(R):5'- GTAGTTTGGCACATCTTGTACTCTC -3'

Sequencing Primer
(F):5'- ACTTGGACTGTGACAGATCTATTTTG -3'
(R):5'- GGCACATCTTGTACTCTCATAACTAG -3'

Posted On

2018-03-15