Mutagenetix > Incidental Mutation

Incidental Mutation 'R7632:Rad51ap2'

589716

Institutional Source

Beutler Lab

Gene Symbol

Rad51ap2

Ensembl Gene

ENSMUSG00000086022

Gene Name

RAD51 associated protein 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7632 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11456079-11462928 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11457115 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 346 (V346A)

Ref Sequence

ENSEMBL: ENSMUSP00000128854 (fasta)

Gene Model

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

AlphaFold

G3UW63

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124065
AA Change: V346A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: V346A

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: 99.8%
20x: 99.5%

Validation Efficiency

95% (63/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2a2	A	G	7: 141,631,323	D924G	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atrnl1	A	G	19: 57,630,306	D152G	probably damaging	Het
B3gnt8	A	G	7: 25,628,435	I97V	possibly damaging	Het
Bach1	A	G	16: 87,720,143	D524G	probably benign	Het
BC067074	C	A	13: 113,320,886	S1155R		Het
Caprin2	T	C	6: 148,883,456	S107G	probably damaging	Het
Ccnb1	A	G	13: 100,781,701	I207T	probably benign	Het
Cdh11	T	C	8: 102,673,883	D151G	probably damaging	Het
Cdh9	A	G	15: 16,851,029		probably null	Het
Cep83	A	T	10: 94,750,640	R433W	probably damaging	Het
D3Ertd751e	A	G	3: 41,753,728	E100G	probably benign	Het
Dchs2	C	T	3: 83,348,050	A2351V	probably benign	Het
Dhx40	T	C	11: 86,799,437	T253A	probably benign	Het
Dqx1	A	G	6: 83,059,699	D228G	probably benign	Het
Dync1h1	T	C	12: 110,660,893	M4002T	probably benign	Het
Flcn	C	T	11: 59,795,799	W376*	probably null	Het
Flnc	A	T	6: 29,446,985	Y1037F	probably damaging	Het
Fut11	T	A	14: 20,695,028	V9E	probably benign	Het
Fv1	T	A	4: 147,869,935	N319K	possibly damaging	Het
Ghrhr	G	T	6: 55,384,742	G298V	probably benign	Het
Gm5800	T	A	14: 51,716,448		probably null	Het
Grin2b	A	G	6: 135,732,555	M1331T	probably benign	Het
Hyou1	A	G	9: 44,381,136		probably null	Het
Igkv1-117	C	A	6: 68,121,808	Q114K	probably damaging	Het
Igkv4-68	A	G	6: 69,305,064	V41A	possibly damaging	Het
Inpp4b	A	G	8: 82,046,339	N754S	probably damaging	Het
Isl2	G	A	9: 55,541,156		probably null	Het
Kat2a	G	A	11: 100,708,596	Q523*	probably null	Het
Lypd3	T	C	7: 24,638,440	F77S	possibly damaging	Het
Map4k2	T	C	19: 6,344,054	L297P	probably benign	Het
Naca	T	C	10: 128,040,506	V469A	unknown	Het
Notch3	C	T	17: 32,158,506	V199I	probably benign	Het
Olfr1294	T	C	2: 111,538,176	I38V	possibly damaging	Het
Olfr1475	T	C	19: 13,479,431	M256V	possibly damaging	Het
Pabpc1	TGTACCTGTTGCATGGTA	TGTA	15: 36,597,968		probably null	Het
Pcdhb8	A	T	18: 37,355,595	I109L	probably benign	Het
Pde2a	A	G	7: 101,484,594	D104G	possibly damaging	Het
Phip	A	G	9: 82,903,190	V824A	probably benign	Het
Plekhg4	T	C	8: 105,380,150	Y853H	probably damaging	Het
Plod1	T	C	4: 147,927,024	K248R	probably damaging	Het
Plxnd1	A	T	6: 115,976,639	Y656N	probably benign	Het
Pogz	G	A	3: 94,856,206		probably null	Het
Ppp1r3e	T	A	14: 54,877,069	S79C	probably damaging	Het
Pprc1	T	A	19: 46,072,282	D1595E	probably damaging	Het
Ptprq	A	G	10: 107,711,922	V205A	probably benign	Het
Rgs12	T	A	5: 34,965,590	L239H	probably damaging	Het
Rrp8	T	C	7: 105,736,520		probably benign	Het
Rsf1	GGCG	GGCGACCGCCGCG	7: 97,579,906		probably benign	Het
Scaf1	A	T	7: 45,007,079	V792D	unknown	Het
Scrn2	G	T	11: 97,033,142	R284L	possibly damaging	Het
Sgsm1	T	A	5: 113,276,082	Q461L	possibly damaging	Het
Slc18b1	A	G	10: 23,826,182	T434A	probably benign	Het
Sltm	C	G	9: 70,586,673	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067		probably benign	Het
Snx33	A	T	9: 56,926,418	D122E	probably damaging	Het
Srebf2	G	T	15: 82,185,296	V680L	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Tecpr1	C	T	5: 144,218,726	V5M	probably benign	Het
Tfg	A	G	16: 56,712,634	V54A	possibly damaging	Het
Tmem237	C	T	1: 59,116,901	C30Y	probably benign	Het
Tmem245	T	C	4: 56,916,787	K444R	probably benign	Het
Trim25	T	G	11: 89,015,776	L446R	probably null	Het
Usp37	T	C	1: 74,468,374	T495A	probably benign	Het
Vmn1r94	T	G	7: 20,167,771	T203P	probably damaging	Het
Ywhah	T	A	5: 33,026,666	M71K	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
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
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
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'- TCGTCCCAAAATAGACCGAATG -3'
(R):5'- TGAAAATGCATCCCTCTTCTGATTC -3'

Sequencing Primer
(F):5'- GTCCCAAAATAGACCGAATGCTAAG -3'
(R):5'- ATGCATCCCTCTTCTGATTCCCTATC -3'

Posted On

2019-10-24