Mutagenetix > Incidental Mutation

Incidental Mutation 'R5575:Rad51'

437149

Institutional Source

Beutler Lab

Gene Symbol

Rad51

Ensembl Gene

ENSMUSG00000027323

Gene Name

RAD51 recombinase

Synonyms

Rad51a, Reca

MMRRC Submission

043130-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5575 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118943295-118966554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118964914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 274 (D274G)

Ref Sequence

ENSEMBL: ENSMUSP00000028795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028795] [ENSMUST00000094695] [ENSMUST00000152327]

AlphaFold

Q08297

Predicted Effect

probably benign
Transcript: ENSMUST00000028795
AA Change: D274G

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028795
Gene: ENSMUSG00000027323
AA Change: D274G

Domain	Start	End	E-Value	Type
HhH1	58	77	1.08e0	SMART
AAA	119	306	8.27e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000094695

SMART Domains

Protein: ENSMUSP00000092283
Gene: ENSMUSG00000070730

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
coiled coil region	91	122	N/A	INTRINSIC
low complexity region	135	148	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
SCOP:d1hxia_	354	445	1e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143934

Predicted Effect

unknown
Transcript: ENSMUST00000151406
AA Change: D153G

SMART Domains

Protein: ENSMUSP00000117939
Gene: ENSMUSG00000027323
AA Change: D153G

Domain	Start	End	E-Value	Type
Pfam:Rad51	1	196	5.4e-103	PFAM
Pfam:AAA_25	2	152	1.9e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152327

SMART Domains

Protein: ENSMUSP00000119101
Gene: ENSMUSG00000027323

Domain	Start	End	E-Value	Type
HhH1	58	77	1.08e0	SMART
Pfam:Rad51	83	218	2.6e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154683

Meta Mutation Damage Score

0.2279

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

97% (57/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
PHENOTYPE: Homozygotes for targeted null mutations die prior to implantation, usually by the eight-cell stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	C	T	14: 54,916,195 (GRCm39)		probably null	Het
Adrm1	T	G	2: 179,817,509 (GRCm39)	D325E	probably benign	Het
Anapc4	T	A	5: 53,013,213 (GRCm39)	V433E	probably damaging	Het
Aplf	A	C	6: 87,623,129 (GRCm39)	C338G	probably benign	Het
Atad5	A	G	11: 79,991,149 (GRCm39)	T681A	probably benign	Het
B9d2	A	G	7: 25,382,757 (GRCm39)	T44A	probably damaging	Het
Catsperg2	T	C	7: 29,405,015 (GRCm39)	K81R	possibly damaging	Het
Cep170b	T	A	12: 112,702,066 (GRCm39)	H286Q	probably damaging	Het
Cfap61	G	A	2: 145,859,313 (GRCm39)	V434I	probably benign	Het
Col5a2	A	T	1: 45,417,642 (GRCm39)	I1311N	probably damaging	Het
Col9a3	A	T	2: 180,240,639 (GRCm39)		probably benign	Het
Dsc2	A	T	18: 20,168,447 (GRCm39)	C671S	probably damaging	Het
Eif5	T	C	12: 111,508,740 (GRCm39)	V245A	probably damaging	Het
Epha5	G	A	5: 84,564,361 (GRCm39)	R2W	probably damaging	Het
Gabrb2	G	A	11: 42,420,365 (GRCm39)		probably benign	Het
Gm3453	A	G	14: 5,978,205 (GRCm38)	V66A	possibly damaging	Het
Gna15	T	C	10: 81,359,707 (GRCm39)	I28V	probably damaging	Het
Hk3	A	T	13: 55,162,583 (GRCm39)	D88E	probably damaging	Het
Hmbox1	T	C	14: 65,060,613 (GRCm39)	T375A	probably benign	Het
Ibsp	A	T	5: 104,457,925 (GRCm39)	E154V	possibly damaging	Het
Il7r	A	G	15: 9,508,273 (GRCm39)	S350P	probably benign	Het
Isx	T	C	8: 75,619,429 (GRCm39)	L207P	probably benign	Het
Krt35	T	C	11: 99,985,450 (GRCm39)	E197G	probably damaging	Het
Krt78	G	A	15: 101,855,787 (GRCm39)	Q675*	probably null	Het
Marchf1	T	A	8: 66,920,962 (GRCm39)	V217E	probably damaging	Het
Mertk	T	C	2: 128,578,485 (GRCm39)	I157T	probably damaging	Het
Mmab	A	T	5: 114,574,832 (GRCm39)	L147Q	probably damaging	Het
Ndst4	T	A	3: 125,231,479 (GRCm39)	V16D	probably benign	Het
Niban1	A	T	1: 151,593,991 (GRCm39)	H892L	probably benign	Het
Ogdhl	T	C	14: 32,047,804 (GRCm39)	L18P	possibly damaging	Het
Pikfyve	A	C	1: 65,312,889 (GRCm39)	H2089P	probably damaging	Het
Plxna1	A	T	6: 89,301,523 (GRCm39)	L1501Q	possibly damaging	Het
Ppp2r5c	T	C	12: 110,519,266 (GRCm39)	F246S	probably damaging	Het
Ptbp2	A	T	3: 119,514,432 (GRCm39)		probably null	Het
Ptbp2	G	A	3: 119,514,438 (GRCm39)	P463L	possibly damaging	Het
Ranbp2	T	C	10: 58,328,405 (GRCm39)	V2807A	probably damaging	Het
Rapgef4	G	A	2: 71,864,464 (GRCm39)		probably null	Het
Rp1l1	C	T	14: 64,268,433 (GRCm39)	H1340Y	probably benign	Het
Ryr1	T	A	7: 28,778,118 (GRCm39)	H2133L	possibly damaging	Het
Scgb1c1	G	A	7: 140,426,024 (GRCm39)	G40E	probably damaging	Het
Shank2	T	C	7: 143,963,871 (GRCm39)	I703T	probably damaging	Het
Spag17	G	A	3: 99,961,138 (GRCm39)	A975T	possibly damaging	Het
Supt6	T	C	11: 78,119,787 (GRCm39)	D400G	probably damaging	Het
Synrg	T	C	11: 83,900,378 (GRCm39)		probably null	Het
Thada	A	C	17: 84,723,827 (GRCm39)		probably null	Het
Themis3	A	G	17: 66,862,321 (GRCm39)	S546P	possibly damaging	Het
Tinf2	T	C	14: 55,917,631 (GRCm39)	D286G	probably benign	Het
Tmem67	A	T	4: 12,047,886 (GRCm39)	V815D	possibly damaging	Het
Trpm1	T	C	7: 63,870,018 (GRCm39)	L441P	possibly damaging	Het
Vapa	A	G	17: 65,920,247 (GRCm39)	V16A	probably benign	Het
Vmn2r38	A	T	7: 9,078,635 (GRCm39)	Y582*	probably null	Het
Vps13b	A	T	15: 35,930,065 (GRCm39)	K3934I	probably damaging	Het
Wrn	G	A	8: 33,826,158 (GRCm39)	T168I	probably benign	Het

Other mutations in Rad51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01659:Rad51	APN	2	118,949,183 (GRCm39)	missense	probably benign	0.44
IGL03028:Rad51	APN	2	118,946,795 (GRCm39)	start codon destroyed	possibly damaging	0.90
R0015:Rad51	UTSW	2	118,946,808 (GRCm39)	missense	probably benign	0.18
R0015:Rad51	UTSW	2	118,946,808 (GRCm39)	missense	probably benign	0.18
R1723:Rad51	UTSW	2	118,954,295 (GRCm39)	missense	probably benign	0.04
R2843:Rad51	UTSW	2	118,949,114 (GRCm39)	missense	probably benign	0.43
R3403:Rad51	UTSW	2	118,951,025 (GRCm39)	intron	probably benign
R4454:Rad51	UTSW	2	118,962,049 (GRCm39)	missense	probably damaging	1.00
R4672:Rad51	UTSW	2	118,954,327 (GRCm39)	missense	probably benign	0.22
R4878:Rad51	UTSW	2	118,950,973 (GRCm39)	intron	probably benign
R4945:Rad51	UTSW	2	118,957,629 (GRCm39)	missense	probably damaging	0.99
R7295:Rad51	UTSW	2	118,964,599 (GRCm39)	missense	possibly damaging	0.94
R7711:Rad51	UTSW	2	118,962,071 (GRCm39)	missense	probably benign	0.01
R8324:Rad51	UTSW	2	118,954,312 (GRCm39)	missense	possibly damaging	0.72
R9346:Rad51	UTSW	2	118,949,093 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCGACTTGCTGATGAGGTAAACTG -3'
(R):5'- CCAAAGCTTGACAAATTCCTAAGTG -3'

Sequencing Primer
(F):5'- CCAAATTCCAGGAGTCTTCTGAGG -3'
(R):5'- GTAGGGTTCAGTGCAAGAA -3'

Posted On

2016-10-26