|Institutional Source||Beutler Lab|
|Gene Name||X-ray repair complementing defective repair in Chinese hamster cells 2|
|Synonyms||8030409M04Rik, RecA, 4921524O04Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7033 (G1)|
|Chromosomal Location||25689812-25705825 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 25692709 bp|
|Amino Acid Change||Isoleucine to Leucine at position 81 (I81L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030773 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030773] [ENSMUST00000134972]|
|Predicted Effect||possibly damaging
AA Change: I81L
PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: I81L
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||96% (70/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene is involved in the repair of DNA double-strand breaks by homologous recombination and it functionally complements Chinese hamster irs1, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit chromosomal instability, excess neuronal apoptosis, and lethality ranging from midgestation through birth. Neonates die from respiratory failure. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Xrcc2||
(F):5'- AAAGACGACAGGCTGTCCAC -3'
(R):5'- TAAGGCTTGTTCTGTGGCCC -3'
(F):5'- CGACAGGCTGTCCACAATGAG -3'
(R):5'- GTGGCCCACTGTTTCATTG -3'