Mutagenetix > Incidental Mutation

Incidental Mutation 'R1693:Rad52'

191925

Institutional Source

Beutler Lab

Gene Symbol

Rad52

Ensembl Gene

ENSMUSG00000030166

Gene Name

RAD52 homolog, DNA repair protein

Synonyms

MMRRC Submission

039726-MU

Accession Numbers

Essential gene?

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

Stock #

R1693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119879659-119899789 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119892996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 180 (P180Q)

Ref Sequence

ENSEMBL: ENSMUSP00000125502 (fasta)

Gene Model

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

AlphaFold

P43352

Predicted Effect

probably damaging
Transcript: ENSMUST00000032269
AA Change: P180Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032269
Gene: ENSMUSG00000030166
AA Change: P180Q

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

SMART Domains

Protein: ENSMUSP00000125559
Gene: ENSMUSG00000030166

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161816

Predicted Effect

probably damaging
Transcript: ENSMUST00000162461
AA Change: P180Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125502
Gene: ENSMUSG00000030166
AA Change: P180Q

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: ENSMUST00000162590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162205

Meta Mutation Damage Score

0.2099

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.2%
20x: 92.2%

Validation Efficiency

96% (69/72)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	A	G	11: 53,287,380 (GRCm39)	D378G	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Aox1	T	C	1: 58,124,701 (GRCm39)	Y981H	probably damaging	Het
Arfgap2	T	A	2: 91,100,420 (GRCm39)		probably null	Het
Ccnf	TGGGGG	TGGGGGGG	17: 24,445,514 (GRCm39)		probably null	Het
Cd53	T	C	3: 106,676,205 (GRCm39)	N54S	possibly damaging	Het
Cep152	C	A	2: 125,408,174 (GRCm39)	A1390S	probably benign	Het
Cfap91	A	G	16: 38,162,085 (GRCm39)	Y19H	probably benign	Het
Chd7	T	C	4: 8,864,307 (GRCm39)		probably null	Het
Chrm5	A	G	2: 112,309,625 (GRCm39)	L497P	probably damaging	Het
Colec12	G	A	18: 9,866,765 (GRCm39)	V659M	unknown	Het
Creb3	C	A	4: 43,566,755 (GRCm39)	H390Q	probably damaging	Het
D1Pas1	T	C	1: 186,700,226 (GRCm39)	F52L	probably benign	Het
D5Ertd579e	A	G	5: 36,771,441 (GRCm39)	F985L	probably damaging	Het
Dock4	C	T	12: 40,884,721 (GRCm39)	P1742S	probably benign	Het
Ehmt2	G	T	17: 35,125,386 (GRCm39)	V534L	possibly damaging	Het
Epcam	A	G	17: 87,947,324 (GRCm39)	D26G	probably benign	Het
F2	C	T	2: 91,459,524 (GRCm39)	V420M	probably damaging	Het
Fbxw16	A	T	9: 109,265,327 (GRCm39)	D401E	possibly damaging	Het
Fiz1	T	C	7: 5,011,727 (GRCm39)	T264A	probably benign	Het
Fsbp	T	C	4: 11,583,745 (GRCm39)	V148A	probably benign	Het
Furin	A	G	7: 80,042,230 (GRCm39)	L455P	probably damaging	Het
Ggt7	G	A	2: 155,348,395 (GRCm39)	R10W	probably damaging	Het
Gucy2g	T	C	19: 55,211,358 (GRCm39)	E624G	probably damaging	Het
Igf2r	A	G	17: 12,923,203 (GRCm39)	F1202S	probably damaging	Het
Ikzf1	C	T	11: 11,657,838 (GRCm39)	P32S	probably damaging	Het
Itgal	G	A	7: 126,904,453 (GRCm39)	V309M	probably damaging	Het
Kcnk5	C	A	14: 20,191,964 (GRCm39)	R399L	probably damaging	Het
Kdm5b	C	T	1: 134,525,314 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,340,762 (GRCm39)	V1038M	probably damaging	Het
Lrp4	T	C	2: 91,322,698 (GRCm39)	Y1096H	probably damaging	Het
Lrrc7	C	G	3: 157,790,170 (GRCm39)	S1465T	possibly damaging	Het
Map3k5	A	G	10: 19,979,988 (GRCm39)	N832S	probably damaging	Het
Mrtfb	C	A	16: 13,216,334 (GRCm39)	L349I	possibly damaging	Het
Mrtfb	T	A	16: 13,216,335 (GRCm39)	L349Q	probably damaging	Het
Myh13	A	C	11: 67,232,310 (GRCm39)	M495L	possibly damaging	Het
Myh9	A	C	15: 77,697,097 (GRCm39)	Y106D	probably damaging	Het
Naa16	A	T	14: 79,588,896 (GRCm39)	W452R	probably damaging	Het
Nsd1	T	C	13: 55,395,074 (GRCm39)	S892P	probably benign	Het
Nup205	A	G	6: 35,187,906 (GRCm39)	I939V	probably benign	Het
Oit3	A	G	10: 59,261,239 (GRCm39)	F476S	probably damaging	Het
Or7e174	T	C	9: 20,012,883 (GRCm39)	V276A	probably benign	Het
Panx3	A	T	9: 37,580,203 (GRCm39)	M50K	possibly damaging	Het
Panx3	A	C	9: 37,580,242 (GRCm39)	M37R	possibly damaging	Het
Pip4p2	T	A	4: 14,886,631 (GRCm39)	D68E	probably benign	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prkaca	T	A	8: 84,707,827 (GRCm39)	D37E	probably benign	Het
Prkcq	T	A	2: 11,259,010 (GRCm39)	I310N	probably damaging	Het
Prrc2c	A	G	1: 162,546,282 (GRCm39)	Y235H	probably damaging	Het
Ptprj	A	T	2: 90,280,141 (GRCm39)	C1052*	probably null	Het
Sdhaf3	T	A	6: 7,038,964 (GRCm39)	D95E	probably benign	Het
Slitrk6	A	G	14: 110,988,360 (GRCm39)	I449T	probably damaging	Het
Spata7	T	A	12: 98,630,516 (GRCm39)	M358K	possibly damaging	Het
Tada2a	C	T	11: 83,972,895 (GRCm39)	G178D	probably damaging	Het
Tap2	G	C	17: 34,428,186 (GRCm39)	V287L	probably benign	Het
Tmem200a	A	G	10: 25,869,877 (GRCm39)	F131L	possibly damaging	Het
Traip	A	T	9: 107,847,229 (GRCm39)	K356M	probably damaging	Het
Tspan8	T	A	10: 115,679,949 (GRCm39)		probably benign	Het
U2surp	A	T	9: 95,393,913 (GRCm39)	M1K	probably null	Het
Vars1	A	T	17: 35,217,172 (GRCm39)	D427E	probably benign	Het
Vmn1r113	G	A	7: 20,521,532 (GRCm39)	C108Y	probably damaging	Het
Vmn2r63	T	A	7: 42,577,743 (GRCm39)	Q265L	probably benign	Het
Vps33b	T	A	7: 79,937,641 (GRCm39)	V463E	probably damaging	Het
Vrtn	T	C	12: 84,695,429 (GRCm39)	S60P	probably benign	Het
Zfp53	T	A	17: 21,729,884 (GRCm39)	V639D	possibly damaging	Het
Zfp964	T	A	8: 70,116,800 (GRCm39)	S466T	possibly damaging	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
R2076:Rad52	UTSW	6	119,888,040 (GRCm39)	missense	probably benign	0.39
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'- TGTCCTCAGAGCTAGTAGAGTGCAG -3'
(R):5'- TGTCCATGAGATGCAATGGAAAGCC -3'

Sequencing Primer
(F):5'- TTACCCAATGAATGAAGGTTAGGGTC -3'
(R):5'- TGCTGCCAAACACTGAGT -3'

Posted On

2014-05-14