Incidental Mutation 'R9312:Xrcc2'
ID 705642
Institutional Source Beutler Lab
Gene Symbol Xrcc2
Ensembl Gene ENSMUSG00000028933
Gene Name X-ray repair complementing defective repair in Chinese hamster cells 2
Synonyms 8030409M04Rik, RecA, 4921524O04Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9312 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 25894812-25910795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25897124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 275 (V275A)
Ref Sequence ENSEMBL: ENSMUSP00000030773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030773] [ENSMUST00000134972]
AlphaFold Q9CX47
Predicted Effect probably damaging
Transcript: ENSMUST00000030773
AA Change: V275A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030773
Gene: ENSMUSG00000028933
AA Change: V275A

DomainStartEndE-ValueType
Pfam:Rad51 38 232 6.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134972
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
MGI Phenotype 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
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 A G 7: 139,565,791 (GRCm39) L607P probably damaging Het
Adamts16 T A 13: 70,949,045 (GRCm39) R205S probably damaging Het
Adgra3 T C 5: 50,117,900 (GRCm39) Y1216C probably damaging Het
Arl3 A G 19: 46,531,964 (GRCm39) V91A probably damaging Het
Bckdhb A T 9: 83,870,833 (GRCm39) K114N probably benign Het
Cabin1 A T 10: 75,561,569 (GRCm39) D150E probably benign Het
Cadps G A 14: 12,616,095 (GRCm38) R312C probably damaging Het
Cep120 A G 18: 53,860,713 (GRCm39) I239T probably benign Het
Clec4g T A 8: 3,768,371 (GRCm39) E120V probably null Het
Col18a1 T C 10: 76,894,606 (GRCm39) E1022G probably damaging Het
Cyfip2 A G 11: 46,167,709 (GRCm39) I231T possibly damaging Het
Dcaf17 T C 2: 70,908,458 (GRCm39) Y228H probably benign Het
Ddx41 T A 13: 55,683,842 (GRCm39) Q52L probably benign Het
Dync2h1 T C 9: 7,050,413 (GRCm39) Y3212C probably damaging Het
Etv4 A G 11: 101,664,923 (GRCm39) Y177H probably benign Het
Fer1l5 A G 1: 36,460,248 (GRCm39) E1910G probably damaging Het
Fgf11 G T 11: 69,689,412 (GRCm39) H195Q probably damaging Het
Gatb A G 3: 85,561,070 (GRCm39) K529E probably damaging Het
Gfus T C 15: 75,797,169 (GRCm39) Y292C possibly damaging Het
Gsdmc C A 15: 63,649,806 (GRCm39) A362S probably damaging Het
Gucy1b1 A T 3: 81,942,123 (GRCm39) N545K probably damaging Het
Heatr1 A G 13: 12,446,565 (GRCm39) H1638R probably benign Het
Hecw1 T G 13: 14,546,567 (GRCm39) I145L probably damaging Het
Hmmr A G 11: 40,614,316 (GRCm39) V124A possibly damaging Het
Il31ra C T 13: 112,686,023 (GRCm39) V89I probably benign Het
Kcnmb3 A T 3: 32,536,575 (GRCm39) M51K probably benign Het
Lamb1 C T 12: 31,368,352 (GRCm39) R1209C probably damaging Het
Lcn6 G T 2: 25,570,074 (GRCm39) G80V probably benign Het
Lgsn A G 1: 31,243,280 (GRCm39) E454G probably benign Het
Loxhd1 G A 18: 77,498,285 (GRCm39) M1624I probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mapk8ip3 T C 17: 25,146,925 (GRCm39) probably null Het
Mlip A G 9: 77,147,060 (GRCm39) Y26H probably damaging Het
Nipsnap1 A C 11: 4,839,902 (GRCm39) I208L possibly damaging Het
Nusap1 CGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGA 2: 119,458,119 (GRCm39) probably benign Het
Or5m11 T A 2: 85,781,509 (GRCm39) V34D possibly damaging Het
Pigr C T 1: 130,762,185 (GRCm39) T7M probably benign Het
Pigu T C 2: 155,199,315 (GRCm39) M1V probably null Het
Pkd1 T A 17: 24,797,364 (GRCm39) I2568N probably damaging Het
Psmd4 A T 3: 94,940,729 (GRCm39) S345T probably benign Het
Rab3gap2 A T 1: 185,015,684 (GRCm39) M1321L probably benign Het
Rnf157 A G 11: 116,240,158 (GRCm39) probably null Het
Sart3 C T 5: 113,900,935 (GRCm39) E168K possibly damaging Het
Scnn1g A G 7: 121,339,818 (GRCm39) K206E probably benign Het
Smg6 A C 11: 74,820,877 (GRCm39) S383R probably benign Het
Smurf1 G T 5: 144,830,893 (GRCm39) P294H probably damaging Het
Sspo A T 6: 48,445,396 (GRCm39) H2279L probably benign Het
Tacc2 A T 7: 130,223,978 (GRCm39) D221V probably benign Het
Tgm6 T A 2: 129,977,701 (GRCm39) H13Q probably benign Het
Tnfaip8l2 T C 3: 95,047,767 (GRCm39) D32G probably damaging Het
Tppp A G 13: 74,179,377 (GRCm39) D167G probably damaging Het
Trak1 A G 9: 121,280,757 (GRCm39) E382G probably benign Het
Trdv2-1 C T 14: 54,183,570 (GRCm39) T14I probably benign Het
Ubr3 A T 2: 69,784,677 (GRCm39) D799V probably damaging Het
Usp28 T A 9: 48,926,439 (GRCm39) Y317* probably null Het
Vmn1r225 C T 17: 20,722,960 (GRCm39) L134F probably benign Het
Vmn2r86 A G 10: 130,288,406 (GRCm39) I365T probably benign Het
Wfikkn2 A G 11: 94,129,497 (GRCm39) S215P probably damaging Het
Zfp423 T A 8: 88,508,569 (GRCm39) I592F probably damaging Het
Other mutations in Xrcc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0678:Xrcc2 UTSW 5 25,903,261 (GRCm39) missense possibly damaging 0.93
R1528:Xrcc2 UTSW 5 25,897,292 (GRCm39) missense probably benign 0.01
R2102:Xrcc2 UTSW 5 25,897,505 (GRCm39) missense probably damaging 1.00
R2397:Xrcc2 UTSW 5 25,910,708 (GRCm39) missense probably null 0.00
R5197:Xrcc2 UTSW 5 25,897,656 (GRCm39) missense probably benign 0.00
R5507:Xrcc2 UTSW 5 25,897,317 (GRCm39) missense probably benign 0.06
R6539:Xrcc2 UTSW 5 25,897,530 (GRCm39) missense probably benign 0.02
R7033:Xrcc2 UTSW 5 25,897,707 (GRCm39) missense possibly damaging 0.75
R7361:Xrcc2 UTSW 5 25,897,755 (GRCm39) missense probably damaging 0.98
R8783:Xrcc2 UTSW 5 25,897,217 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- GACCTTCCACACCTTGAAGG -3'
(R):5'- ATGCAGAAAGGCTCAGACTC -3'

Sequencing Primer
(F):5'- TTCCACACCTTGAAGGGGACAG -3'
(R):5'- AAGGCTCAGACTCTGCAGACG -3'
Posted On 2022-03-25