Mutagenetix > Incidental Mutation

Incidental Mutation 'R2296:Xrcc5'

245165

Institutional Source

Beutler Lab

Gene Symbol

Xrcc5

Ensembl Gene

ENSMUSG00000026187

Gene Name

X-ray repair complementing defective repair in Chinese hamster cells 5

Synonyms

Ku86, Ku80

MMRRC Submission

040295-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2296 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72346586-72434111 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72385485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 525 (K525N)

Ref Sequence

ENSEMBL: ENSMUSP00000027379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027379]

AlphaFold

P27641

Predicted Effect

probably benign
Transcript: ENSMUST00000027379
AA Change: K525N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187
AA Change: K525N

Domain	Start	End	E-Value	Type
VWA	7	245	8.07e-2	SMART
Ku78	302	441	8.9e-52	SMART
Pfam:Ku_C	476	570	6.9e-23	PFAM
Pfam:Ku_PK_bind	594	707	9.3e-31	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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 the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants are defective in DNA double-strand break repair and show impaired growth and severe combined immunodeficiency due to defective assembly of TCRs and immunoglobulins. Mutants die early with osteopenia, atrophic skin and hepatic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	G	1: 11,582,275 (GRCm39)	E68G	possibly damaging	Het
Apob	A	G	12: 8,044,879 (GRCm39)	D820G	probably damaging	Het
Bglap3	G	C	3: 88,276,819 (GRCm39)		probably benign	Het
Calr3	C	T	8: 73,178,469 (GRCm39)		probably benign	Het
Carmil1	A	G	13: 24,299,492 (GRCm39)	L344P	probably damaging	Het
Cop1	G	A	1: 159,072,220 (GRCm39)	V109M	possibly damaging	Het
Dennd4b	T	A	3: 90,182,821 (GRCm39)	N879K	probably damaging	Het
Fam13b	T	C	18: 34,627,814 (GRCm39)	D129G	possibly damaging	Het
Fam222a	C	A	5: 114,749,027 (GRCm39)	H74Q	possibly damaging	Het
Gata5	A	G	2: 179,970,113 (GRCm39)	M278T	possibly damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Iigp1c	T	A	18: 60,378,542 (GRCm39)	C26S	probably benign	Het
Inpp5k	T	G	11: 75,530,313 (GRCm39)	L251R	probably damaging	Het
Lrrc36	T	G	8: 106,187,651 (GRCm39)	D522E	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nras	T	A	3: 102,966,350 (GRCm39)		probably null	Het
Nudt12	A	G	17: 59,317,044 (GRCm39)	V201A	possibly damaging	Het
Phf2	T	C	13: 48,988,754 (GRCm39)	E39G	unknown	Het
Serpinb3a	A	T	1: 106,975,291 (GRCm39)	V172D	probably damaging	Het
Stab2	T	A	10: 86,790,338 (GRCm39)		probably null	Het
Trim3	A	G	7: 105,262,481 (GRCm39)	I559T	probably damaging	Het
Trp53bp1	A	T	2: 121,039,728 (GRCm39)	S1304T	possibly damaging	Het
Zfp110	T	A	7: 12,583,467 (GRCm39)	V705D	probably damaging	Het

Other mutations in Xrcc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Xrcc5	APN	1	72,393,404 (GRCm39)	missense	probably benign	0.01
IGL01599:Xrcc5	APN	1	72,385,508 (GRCm39)	missense	possibly damaging	0.72
IGL01714:Xrcc5	APN	1	72,369,143 (GRCm39)	missense	probably damaging	0.98
IGL02740:Xrcc5	APN	1	72,379,240 (GRCm39)	critical splice donor site	probably null
IGL02884:Xrcc5	APN	1	72,385,396 (GRCm39)	missense	possibly damaging	0.95
barbarian	UTSW	1	72,353,337 (GRCm39)	missense	probably damaging	1.00
durio	UTSW	1	72,378,188 (GRCm39)	missense	probably damaging	1.00
Highlander	UTSW	1	72,358,286 (GRCm39)	missense	possibly damaging	0.55
monoculture	UTSW	1	72,382,189 (GRCm39)	missense	possibly damaging	0.82
xenophobe	UTSW	1	72,351,595 (GRCm39)	missense	probably damaging	1.00
zibethinus	UTSW	1	72,349,617 (GRCm39)	missense	probably damaging	1.00
PIT4362001:Xrcc5	UTSW	1	72,433,088 (GRCm39)	missense	probably benign
R0309:Xrcc5	UTSW	1	72,346,735 (GRCm39)	unclassified	probably benign
R0485:Xrcc5	UTSW	1	72,378,104 (GRCm39)	splice site	probably benign
R1004:Xrcc5	UTSW	1	72,422,937 (GRCm39)	splice site	probably benign
R1421:Xrcc5	UTSW	1	72,349,636 (GRCm39)	missense	probably benign	0.00
R1530:Xrcc5	UTSW	1	72,369,103 (GRCm39)	missense	probably damaging	0.98
R1694:Xrcc5	UTSW	1	72,358,255 (GRCm39)	missense	possibly damaging	0.88
R1750:Xrcc5	UTSW	1	72,364,246 (GRCm39)	nonsense	probably null
R2037:Xrcc5	UTSW	1	72,385,529 (GRCm39)	missense	probably benign	0.01
R4299:Xrcc5	UTSW	1	72,433,879 (GRCm39)	makesense	probably null
R4388:Xrcc5	UTSW	1	72,369,189 (GRCm39)	missense	possibly damaging	0.46
R4527:Xrcc5	UTSW	1	72,351,659 (GRCm39)	missense	probably damaging	1.00
R4857:Xrcc5	UTSW	1	72,365,424 (GRCm39)	missense	possibly damaging	0.92
R5073:Xrcc5	UTSW	1	72,378,188 (GRCm39)	missense	probably damaging	1.00
R5233:Xrcc5	UTSW	1	72,379,209 (GRCm39)	missense	probably damaging	1.00
R5521:Xrcc5	UTSW	1	72,385,430 (GRCm39)	missense	probably damaging	1.00
R5996:Xrcc5	UTSW	1	72,349,617 (GRCm39)	missense	probably damaging	1.00
R6583:Xrcc5	UTSW	1	72,351,752 (GRCm39)	critical splice donor site	probably null
R6638:Xrcc5	UTSW	1	72,422,521 (GRCm39)	missense	possibly damaging	0.94
R6935:Xrcc5	UTSW	1	72,382,189 (GRCm39)	missense	possibly damaging	0.82
R7046:Xrcc5	UTSW	1	72,433,875 (GRCm39)	missense	probably benign	0.00
R7446:Xrcc5	UTSW	1	72,433,132 (GRCm39)	splice site	probably null
R7473:Xrcc5	UTSW	1	72,351,748 (GRCm39)	missense	probably damaging	1.00
R7875:Xrcc5	UTSW	1	72,369,090 (GRCm39)	missense	probably damaging	1.00
R7889:Xrcc5	UTSW	1	72,395,985 (GRCm39)	missense	probably benign	0.45
R8088:Xrcc5	UTSW	1	72,351,595 (GRCm39)	missense	probably damaging	1.00
R8179:Xrcc5	UTSW	1	72,396,016 (GRCm39)	missense	probably damaging	0.99
R8297:Xrcc5	UTSW	1	72,364,244 (GRCm39)	missense	possibly damaging	0.47
R8309:Xrcc5	UTSW	1	72,358,286 (GRCm39)	missense	possibly damaging	0.55
R8717:Xrcc5	UTSW	1	72,422,905 (GRCm39)	missense	probably benign
R8775:Xrcc5	UTSW	1	72,433,089 (GRCm39)	missense	probably benign	0.01
R8775-TAIL:Xrcc5	UTSW	1	72,433,089 (GRCm39)	missense	probably benign	0.01
R8798:Xrcc5	UTSW	1	72,353,337 (GRCm39)	missense	probably damaging	1.00
R8889:Xrcc5	UTSW	1	72,382,190 (GRCm39)	missense	possibly damaging	0.90
R8892:Xrcc5	UTSW	1	72,382,190 (GRCm39)	missense	possibly damaging	0.90
R9527:Xrcc5	UTSW	1	72,369,091 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCTAGCCCTTCCAGTTAGAG -3'
(R):5'- TCCAGTAATTCCAGACTCACTGC -3'

Sequencing Primer
(F):5'- CTAGCCCTTCCAGTTAGAGATGGAG -3'
(R):5'- AGACTCACTGCTGTTCCGG -3'

Posted On

2014-10-30