Mutagenetix > Incidental Mutations

Incidental Mutation 'R5932:Rad51ap2'

461952

Institutional Source

Beutler Lab

Gene Symbol

Rad51ap2

Ensembl Gene

ENSMUSG00000086022

Gene Name

RAD51 associated protein 2

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11456079-11462928 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11458386 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 770 (N770D)

Ref Sequence

ENSEMBL: ENSMUSP00000128854 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000124065
AA Change: N770D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: N770D

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: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,244,595		probably null	Het
A1cf	T	A	19: 31,893,118	S7T	possibly damaging	Het
A530099J19Rik	C	A	13: 19,729,476		noncoding transcript	Het
Aatk	C	T	11: 120,021,533	G29S	probably damaging	Het
Akap1	A	G	11: 88,831,759	L890P	probably damaging	Het
Akap13	T	A	7: 75,610,184	M49K	probably damaging	Het
Ankrd17	A	T	5: 90,265,436	N1206K	probably damaging	Het
Bbs7	G	A	3: 36,582,698	T480I	probably benign	Het
Bbs9	A	G	9: 22,812,331	E769G	probably damaging	Het
BC027072	T	C	17: 71,751,753	R310G	probably damaging	Het
Bpgm	T	A	6: 34,487,925	S192R	probably damaging	Het
Brinp1	C	A	4: 68,792,941	K343N	probably benign	Het
Cabyr	T	G	18: 12,754,350	V185G	probably damaging	Het
Cadm1	C	A	9: 47,799,451	D217E	probably damaging	Het
Camk1g	T	A	1: 193,354,039	E171V	probably benign	Het
Casz1	T	A	4: 148,939,113	M825K	possibly damaging	Het
Ccdc27	A	G	4: 154,026,774	V627A	probably benign	Het
Ccdc40	T	G	11: 119,251,012	I808R	probably damaging	Het
Cdh23	G	A	10: 60,392,984	R1140C	probably damaging	Het
Celsr1	A	G	15: 86,032,704	V356A	probably damaging	Het
Cep126	T	A	9: 8,103,508	D167V	probably damaging	Het
Chmp4b	C	T	2: 154,691,281	T147I	probably benign	Het
Clstn3	A	T	6: 124,438,332	M728K	probably benign	Het
Col7a1	A	T	9: 108,980,211	E2618V	unknown	Het
Crls1	T	A	2: 132,864,167	Y170*	probably null	Het
Epas1	T	G	17: 86,827,646	I569S	possibly damaging	Het
Fhl3	T	C	4: 124,705,727	Y32H	probably damaging	Het
Fibp	G	A	19: 5,464,425	G333D	probably benign	Het
Frmd4a	C	T	2: 4,529,839	T156I	probably damaging	Het
Gcn1l1	T	C	5: 115,592,376	L873P	possibly damaging	Het
Hectd3	G	A	4: 117,002,273	R698H	possibly damaging	Het
Il17a	T	C	1: 20,733,753	V124A	probably damaging	Het
Kif14	A	T	1: 136,516,390	E1373D	probably benign	Het
Klra4	C	T	6: 130,053,053	V190M	possibly damaging	Het
Kmt2a	T	C	9: 44,820,647		probably benign	Het
L3mbtl1	GGCCG	GG	2: 162,967,336		probably benign	Het
Lamb2	T	C	9: 108,480,611	I111T	probably damaging	Het
Lrch3	A	T	16: 32,975,736	D204V	probably damaging	Het
Mansc1	C	A	6: 134,610,515	R233L	possibly damaging	Het
Mkrn3	A	G	7: 62,418,907	C379R	probably damaging	Het
Ncoa3	T	A	2: 166,070,125		probably null	Het
Neu3	A	T	7: 99,813,318	C399*	probably null	Het
Olfr287	T	G	15: 98,207,415	*323S	probably null	Het
Olfr671	G	A	7: 104,975,655	T114M	probably damaging	Het
Pde5a	T	C	3: 122,841,044	F713L	probably benign	Het
Pdk1	T	A	2: 71,883,416		probably null	Het
Plin4	A	G	17: 56,106,356	V423A	possibly damaging	Het
Pstpip1	T	A	9: 56,125,930	Y249N	probably damaging	Het
Ptprf	A	T	4: 118,211,767	C1673S	probably benign	Het
Pum1	A	G	4: 130,730,366	T230A	probably benign	Het
Qsox1	A	T	1: 155,789,333	D287E	probably benign	Het
Rtp3	T	A	9: 110,986,692	I202F	probably benign	Het
Slc26a4	C	T	12: 31,535,249		probably null	Het
Spata48	A	G	11: 11,488,513		probably benign	Het
Sptbn1	C	G	11: 30,136,136	V1191L	probably damaging	Het
St5	G	A	7: 109,570,016	T24M	probably damaging	Het
Tead2	T	C	7: 45,232,899	Y121H	probably benign	Het
Thsd7b	T	C	1: 129,430,838	L3P	probably benign	Het
Trim24	T	C	6: 37,957,075	I651T	probably damaging	Het
Usp2	A	G	9: 44,092,333	I481V	probably benign	Het
Vps13d	C	A	4: 145,045,041	V4056F	possibly damaging	Het
Yeats2	A	G	16: 20,193,163	E496G	probably benign	Het
Zap70	A	G	1: 36,781,146	K503E	probably damaging	Het
Zbtb46	A	G	2: 181,411,920	L333P	probably benign	Het
Zfc3h1	A	T	10: 115,400,910	T430S	probably benign	Het
Zfp618	C	T	4: 63,118,566	R368*	probably null	Het

Other mutations in Rad51ap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01879:Rad51ap2	APN	12	11458138	missense	probably benign	0.10
IGL01908:Rad51ap2	APN	12	11458591	missense	probably damaging	1.00
IGL02415:Rad51ap2	APN	12	11456929	missense	possibly damaging	0.91
IGL02731:Rad51ap2	APN	12	11456896	missense	probably damaging	0.99
IGL03407:Rad51ap2	APN	12	11457197	missense	possibly damaging	0.96
R0190:Rad51ap2	UTSW	12	11458539	missense	probably benign	0.01
R0281:Rad51ap2	UTSW	12	11457042	missense	possibly damaging	0.93
R0564:Rad51ap2	UTSW	12	11457896	missense	probably benign	0.20
R0674:Rad51ap2	UTSW	12	11458817	critical splice donor site	probably null
R0699:Rad51ap2	UTSW	12	11457600	missense	probably benign	0.03
R1033:Rad51ap2	UTSW	12	11456251	missense	probably damaging	0.98
R1255:Rad51ap2	UTSW	12	11458094	missense	possibly damaging	0.54
R1572:Rad51ap2	UTSW	12	11457112	missense	probably damaging	0.99
R1746:Rad51ap2	UTSW	12	11457775	missense	probably benign
R1882:Rad51ap2	UTSW	12	11456250	missense	possibly damaging	0.85
R2038:Rad51ap2	UTSW	12	11457024	missense	possibly damaging	0.73
R2151:Rad51ap2	UTSW	12	11457985	missense	probably benign	0.02
R2152:Rad51ap2	UTSW	12	11457985	missense	probably benign	0.02
R2154:Rad51ap2	UTSW	12	11457985	missense	probably benign	0.02
R2159:Rad51ap2	UTSW	12	11457751	missense	possibly damaging	0.87
R2321:Rad51ap2	UTSW	12	11457057	missense	probably damaging	1.00
R2355:Rad51ap2	UTSW	12	11457108	missense	probably benign
R2393:Rad51ap2	UTSW	12	11457797	missense	probably damaging	0.98
R2407:Rad51ap2	UTSW	12	11458501	missense	probably damaging	0.99
R2518:Rad51ap2	UTSW	12	11457067	missense	probably damaging	0.99
R2929:Rad51ap2	UTSW	12	11457184	missense	probably benign	0.07
R3085:Rad51ap2	UTSW	12	11456757	missense	possibly damaging	0.53
R4009:Rad51ap2	UTSW	12	11457051	missense	probably benign	0.33
R4108:Rad51ap2	UTSW	12	11458395	missense	probably damaging	1.00
R4282:Rad51ap2	UTSW	12	11456464	missense	probably benign	0.01
R4536:Rad51ap2	UTSW	12	11457849	missense	possibly damaging	0.90
R4594:Rad51ap2	UTSW	12	11457880	missense	probably benign	0.01
R4678:Rad51ap2	UTSW	12	11456551	missense	probably damaging	0.96
R4679:Rad51ap2	UTSW	12	11456551	missense	probably damaging	0.96
R4810:Rad51ap2	UTSW	12	11457405	missense	probably damaging	1.00
R5151:Rad51ap2	UTSW	12	11457515	missense	probably benign	0.09
R5421:Rad51ap2	UTSW	12	11459367	nonsense	probably null
R5517:Rad51ap2	UTSW	12	11458312	missense	probably benign	0.19
R5786:Rad51ap2	UTSW	12	11456920	missense	probably damaging	1.00
R5884:Rad51ap2	UTSW	12	11457533	small deletion	probably benign
R6022:Rad51ap2	UTSW	12	11458522	missense	probably damaging	1.00
R6064:Rad51ap2	UTSW	12	11457417	missense	possibly damaging	0.80
R6112:Rad51ap2	UTSW	12	11457289	missense	probably benign	0.01
R6235:Rad51ap2	UTSW	12	11457516	missense	possibly damaging	0.70
R6282:Rad51ap2	UTSW	12	11457559	missense	probably benign	0.12
R6488:Rad51ap2	UTSW	12	11458160	missense	possibly damaging	0.56
R6668:Rad51ap2	UTSW	12	11457646	missense	probably benign	0.17
R6759:Rad51ap2	UTSW	12	11457144	missense	possibly damaging	0.91
R7030:Rad51ap2	UTSW	12	11457431	missense	possibly damaging	0.93
R7080:Rad51ap2	UTSW	12	11456365	missense	probably benign
R7105:Rad51ap2	UTSW	12	11458277	missense	possibly damaging	0.84
R7269:Rad51ap2	UTSW	12	11456806	missense	possibly damaging	0.67
R7286:Rad51ap2	UTSW	12	11457691	missense	probably benign	0.19
R7305:Rad51ap2	UTSW	12	11457343	missense	possibly damaging	0.68
R7451:Rad51ap2	UTSW	12	11457981	missense	probably benign	0.05
R7632:Rad51ap2	UTSW	12	11457115	missense	possibly damaging	0.85
R7833:Rad51ap2	UTSW	12	11456655	missense	probably benign
R7839:Rad51ap2	UTSW	12	11457237	missense	possibly damaging	0.83
R7953:Rad51ap2	UTSW	12	11462592	nonsense	probably null
R8040:Rad51ap2	UTSW	12	11458791	missense	probably benign	0.03
RF023:Rad51ap2	UTSW	12	11458075	missense	possibly damaging	0.94
X0026:Rad51ap2	UTSW	12	11458096	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CAGCTTCGCTAGTGAGTAAGAG -3'
(R):5'- ACCTGCCTTCACATCACAGG -3'

Sequencing Primer
(F):5'- CGCTAGTGAGTAAGAGCATAAATATG -3'
(R):5'- AAAAAGGTGCATTTCTTGTGTTG -3'

Posted On

2017-02-28