Mutagenetix > Incidental Mutation

Incidental Mutation 'R0564:Rad51ap2'

46084

Institutional Source

Beutler Lab

Gene Symbol

Rad51ap2

Ensembl Gene

ENSMUSG00000086022

Gene Name

RAD51 associated protein 2

Synonyms

MMRRC Submission

038755-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0564 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11456079-11462928 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11457896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 606 (H606Q)

Ref Sequence

ENSEMBL: ENSMUSP00000128854 (fasta)

Gene Model

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

AlphaFold

G3UW63

Predicted Effect

probably benign
Transcript: ENSMUST00000124065
AA Change: H606Q

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: H606Q

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

0.1216

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,344,847	V127A	probably damaging	Het
Alox12	T	A	11: 70,252,836	D202V	probably damaging	Het
Ankib1	A	G	5: 3,729,655	Y405H	probably damaging	Het
Apbb2	A	T	5: 66,452,250	M18K	probably damaging	Het
Atad2	C	A	15: 58,125,833		probably benign	Het
BC117090	A	T	16: 36,322,984	Y34*	probably null	Het
Birc6	T	A	17: 74,625,243		probably benign	Het
Ccdc126	T	C	6: 49,334,142	M28T	possibly damaging	Het
Cdc16	A	T	8: 13,781,618	D617V	probably damaging	Het
Cep135	G	A	5: 76,615,710	E516K	probably damaging	Het
Cep135	G	T	5: 76,638,949	M1081I	probably benign	Het
Col6a3	A	C	1: 90,807,734	V731G	probably damaging	Het
Cwc27	C	A	13: 104,661,357	E365*	probably null	Het
D230025D16Rik	T	A	8: 105,239,971		probably benign	Het
Dip2b	C	A	15: 100,162,719	Y258*	probably null	Het
Dnah17	A	G	11: 118,082,981	V1900A	probably damaging	Het
Dpysl2	A	T	14: 66,805,446		probably benign	Het
Dync2h1	A	T	9: 7,139,432	L1401Q	probably damaging	Het
Esf1	A	T	2: 140,158,586	Y427N	possibly damaging	Het
Fbln1	T	A	15: 85,227,107	V154D	probably benign	Het
Frem2	A	G	3: 53,656,109	F326L	probably damaging	Het
Gm4922	T	A	10: 18,784,065	N303I	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Iigp1	G	A	18: 60,390,451	V214M	probably damaging	Het
Luzp2	A	G	7: 54,835,962	K2E	probably damaging	Het
Mcc	A	G	18: 44,468,507	L410P	probably damaging	Het
Mfn2	A	G	4: 147,883,255	F452S	probably damaging	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Micu2	A	G	14: 57,919,374	F335L	possibly damaging	Het
Mpp3	T	G	11: 102,005,347	K450T	possibly damaging	Het
Mtmr4	T	A	11: 87,598,888	V79E	probably damaging	Het
Nlrp4b	A	G	7: 10,714,658	I263V	probably benign	Het
Olfr551	T	C	7: 102,588,531	I71V	probably benign	Het
Olfr809	T	G	10: 129,776,136	V74G	probably damaging	Het
Pdk1	G	A	2: 71,880,039	W113*	probably null	Het
Phxr4	A	T	9: 13,431,697		probably benign	Het
Ralgapa1	A	T	12: 55,782,885	I187K	possibly damaging	Het
Rps27	A	G	3: 90,212,923		probably benign	Het
Sema3e	T	A	5: 14,236,085		probably null	Het
Sh2d3c	G	A	2: 32,753,052	C749Y	probably damaging	Het
Siah2	T	C	3: 58,676,235	D210G	probably benign	Het
Smap2	G	A	4: 120,976,977	P155S	probably benign	Het
Snrk	C	T	9: 122,166,544	T463M	possibly damaging	Het
Tm9sf3	A	G	19: 41,245,525		probably benign	Het
Tmem132d	C	T	5: 127,784,778	E760K	probably damaging	Het
Tmem184c	A	T	8: 77,606,160		probably null	Het
Tmem235	A	T	11: 117,860,848	I33F	possibly damaging	Het
Tmem267	A	T	13: 119,492,639		probably null	Het
Top1	G	A	2: 160,714,265	R548Q	probably damaging	Het
Trio	T	C	15: 27,805,822	N527D	probably damaging	Het
Upf3a	A	G	8: 13,795,656	K252E	probably benign	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
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
R5932:Rad51ap2	UTSW	12	11458386	missense	probably damaging	1.00
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
R8879:Rad51ap2	UTSW	12	11457400	missense	possibly damaging	0.55
R8963:Rad51ap2	UTSW	12	11456254	missense	possibly damaging	0.91
R9010:Rad51ap2	UTSW	12	11458674	missense	probably benign	0.01
R9328:Rad51ap2	UTSW	12	11457771	missense	probably benign	0.03
R9691:Rad51ap2	UTSW	12	11459412	missense	possibly damaging	0.70
R9712:Rad51ap2	UTSW	12	11457592	missense	possibly damaging	0.95
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'- CCCCTTTAATGGGTTTTGATAACACGGA -3'
(R):5'- AGCTGACTGCACTGAAGACATTCC -3'

Sequencing Primer
(F):5'- CTAGTTATGAGAGTACAAGATGTGCC -3'
(R):5'- TCCGTCCATTGTGGGAAAAC -3'

Posted On

2013-06-11