Mutagenetix > Incidental Mutation

Incidental Mutation 'R2076:Rad52'

229155

Institutional Source

Beutler Lab

Gene Symbol

Rad52

Ensembl Gene

ENSMUSG00000030166

Gene Name

RAD52 homolog, DNA repair protein

Synonyms

MMRRC Submission

040081-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R2076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119879659-119899789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119888040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 9 (H9Y)

Ref Sequence

ENSEMBL: ENSMUSP00000125559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032269] [ENSMUST00000161045] [ENSMUST00000162461]

AlphaFold

P43352

Predicted Effect

probably benign
Transcript: ENSMUST00000032269
AA Change: H9Y

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000032269
Gene: ENSMUSG00000030166
AA Change: H9Y

Domain	Start	End	E-Value	Type
Pfam:Rad52_Rad22	36	185	2.4e-56	PFAM
low complexity region	262	276	N/A	INTRINSIC
low complexity region	288	301	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160877

Predicted Effect

probably benign
Transcript: ENSMUST00000161045
AA Change: H9Y

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125559
Gene: ENSMUSG00000030166
AA Change: H9Y

Domain	Start	End	E-Value	Type
PDB:1H2I\|V	1	64	2e-26	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161816

Predicted Effect

probably benign
Transcript: ENSMUST00000162461
AA Change: H9Y

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000125502
Gene: ENSMUSG00000030166
AA Change: H9Y

Domain	Start	End	E-Value	Type
Pfam:Rad52_Rad22	36	184	6.6e-51	PFAM
low complexity region	262	276	N/A	INTRINSIC
low complexity region	288	301	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162590

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit normal reproductive and immune systems. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,178,478 (GRCm39)	V1165D	probably benign	Het
Acot11	T	C	4: 106,627,910 (GRCm39)	H103R	probably damaging	Het
Apba1	G	T	19: 23,870,587 (GRCm39)	E140*	probably null	Het
Bicdl1	A	T	5: 115,793,987 (GRCm39)	I253N	probably damaging	Het
Ccdc159	T	C	9: 21,840,802 (GRCm39)		probably null	Het
Ccne2	A	G	4: 11,197,177 (GRCm39)	R160G	probably damaging	Het
Cct7	A	T	6: 85,445,122 (GRCm39)	I458F	probably damaging	Het
Cd3g	T	A	9: 44,885,595 (GRCm39)	D50V	probably damaging	Het
Ces2h	T	C	8: 105,745,660 (GRCm39)	L461P	probably benign	Het
Cplane1	T	A	15: 8,248,741 (GRCm39)	D1763E	possibly damaging	Het
Csn2	A	G	5: 87,844,033 (GRCm39)	S19P	probably damaging	Het
Cyp3a11	A	T	5: 145,816,576 (GRCm39)	V4D	probably benign	Het
Ddx3y	A	G	Y: 1,266,593 (GRCm39)		probably null	Het
Dipk1c	G	T	18: 84,755,033 (GRCm39)	D170Y	probably damaging	Het
Dlgap1	C	T	17: 71,093,826 (GRCm39)	Q716*	probably null	Het
Dlx6	A	G	6: 6,867,098 (GRCm39)	S234G	probably benign	Het
Dnah7a	T	C	1: 53,542,968 (GRCm39)	T2401A	probably benign	Het
Dnah7b	T	G	1: 46,281,481 (GRCm39)	Y2847*	probably null	Het
Dpysl2	A	G	14: 67,102,571 (GRCm39)	S30P	probably damaging	Het
Elp1	T	C	4: 56,786,620 (GRCm39)	D441G	probably damaging	Het
Ezh2	A	T	6: 47,553,567 (GRCm39)	L50*	probably null	Het
Fam135b	T	A	15: 71,350,092 (GRCm39)	E349D	probably damaging	Het
Foxl3	A	G	5: 138,807,022 (GRCm39)	D100G	probably benign	Het
Frat2	T	C	19: 41,836,242 (GRCm39)	T37A	probably benign	Het
Hivep1	G	A	13: 42,317,869 (GRCm39)		probably null	Het
Ift25	T	C	4: 107,136,964 (GRCm39)	S121P	possibly damaging	Het
Impdh1	G	A	6: 29,205,162 (GRCm39)	A213V	probably damaging	Het
Irf2	G	T	8: 47,298,962 (GRCm39)	W252L	probably damaging	Het
Irx4	A	G	13: 73,416,384 (GRCm39)	D260G	probably damaging	Het
Kalrn	T	A	16: 34,152,513 (GRCm39)	H338L	probably benign	Het
Kif9	T	A	9: 110,314,100 (GRCm39)		probably null	Het
Klhl24	T	C	16: 19,936,628 (GRCm39)	V412A	probably damaging	Het
Lgals8	T	A	13: 12,469,750 (GRCm39)	K70*	probably null	Het
Mrtfb	T	C	16: 13,219,246 (GRCm39)	S631P	probably benign	Het
Myo1e	T	A	9: 70,291,159 (GRCm39)	N983K	probably benign	Het
Nipbl	T	C	15: 8,340,691 (GRCm39)	R2010G	probably benign	Het
Npw	A	T	17: 24,876,413 (GRCm39)	V166D	possibly damaging	Het
Osbpl5	T	C	7: 143,262,881 (GRCm39)	Y169C	probably damaging	Het
Pcdh15	T	C	10: 74,178,479 (GRCm39)	Y579H	probably damaging	Het
Pde8a	A	G	7: 80,958,693 (GRCm39)	T330A	probably benign	Het
Plxnb2	C	T	15: 89,042,229 (GRCm39)	V1592M	probably damaging	Het
Ppp2r3d	A	C	9: 101,021,570 (GRCm39)	M955R	possibly damaging	Het
Ptprk	T	A	10: 28,465,364 (GRCm39)	I1349K	probably damaging	Het
Rapgef1	A	G	2: 29,592,520 (GRCm39)	Q466R	probably benign	Het
Rb1cc1	T	A	1: 6,320,262 (GRCm39)	I1227N	possibly damaging	Het
Rhbdf1	T	C	11: 32,164,088 (GRCm39)	M273V	probably benign	Het
Shoc1	A	G	4: 59,082,410 (GRCm39)	V406A	possibly damaging	Het
Slc30a3	G	T	5: 31,244,165 (GRCm39)	Y323*	probably null	Het
Slc5a9	T	C	4: 111,742,770 (GRCm39)	I441V	possibly damaging	Het
Spast	G	C	17: 74,659,026 (GRCm39)	G131A	probably damaging	Het
Syne1	C	G	10: 4,990,897 (GRCm39)	W8444S	probably damaging	Het
Tgm4	G	T	9: 122,880,160 (GRCm39)	A211S	probably benign	Het
Themis2	T	C	4: 132,513,113 (GRCm39)	D371G	probably damaging	Het
Tmem132e	T	A	11: 82,325,894 (GRCm39)	I206N	possibly damaging	Het
Uba3	G	T	6: 97,176,241 (GRCm39)	D88E	probably damaging	Het
Vmn1r230	T	A	17: 21,067,144 (GRCm39)	M111K	probably damaging	Het
Wdr35	C	T	12: 9,074,281 (GRCm39)	H971Y	possibly damaging	Het
Yeats2	C	A	16: 20,005,032 (GRCm39)	H356Q	possibly damaging	Het
Zfp180	A	G	7: 23,804,528 (GRCm39)	K316E	probably damaging	Het
Zfp518a	T	C	19: 40,902,771 (GRCm39)	L900P	probably damaging	Het
Zfp655	A	G	5: 145,181,410 (GRCm39)	N423D	possibly damaging	Het
Zfp932	A	G	5: 110,157,334 (GRCm39)	Q344R	probably benign	Het

Other mutations in Rad52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Rad52	APN	6	119,895,594 (GRCm39)	missense	probably damaging	1.00
IGL02376:Rad52	APN	6	119,892,191 (GRCm39)	splice site	probably benign
IGL02572:Rad52	APN	6	119,892,188 (GRCm39)	splice site	probably benign
IGL03292:Rad52	APN	6	119,895,934 (GRCm39)	missense	possibly damaging	0.96
R1693:Rad52	UTSW	6	119,892,996 (GRCm39)	missense	probably damaging	1.00
R2110:Rad52	UTSW	6	119,897,855 (GRCm39)	missense	possibly damaging	0.80
R4753:Rad52	UTSW	6	119,889,946 (GRCm39)	intron	probably benign
R5857:Rad52	UTSW	6	119,887,968 (GRCm39)	splice site	probably null
R5866:Rad52	UTSW	6	119,889,907 (GRCm39)	intron	probably benign
R6193:Rad52	UTSW	6	119,897,143 (GRCm39)	missense	probably benign	0.03
R6369:Rad52	UTSW	6	119,891,168 (GRCm39)	missense	unknown
R8886:Rad52	UTSW	6	119,890,041 (GRCm39)	missense	probably damaging	0.99
R8888:Rad52	UTSW	6	119,890,041 (GRCm39)	missense	probably damaging	0.99
R8889:Rad52	UTSW	6	119,890,041 (GRCm39)	missense	probably damaging	0.99
R9321:Rad52	UTSW	6	119,889,969 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCACCTTTTCCAGCCCATAATAG -3'
(R):5'- TGCGAAGTTCACAAATCCACG -3'

Sequencing Primer
(F):5'- AGTGGGAACAACTGTAGGTTTG -3'
(R):5'- TAAGCTCCTTCTGCAAGG -3'

Posted On

2014-09-17