Incidental Mutation 'R2397:Xrcc2'
ID 318116
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
MMRRC Submission 040364-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2397 (G1)
Quality Score 79
Status Validated
Chromosome 5
Chromosomal Location 25894812-25910795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25910708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 3 (S3G)
Ref Sequence ENSEMBL: ENSMUSP00000143032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030773] [ENSMUST00000134972]
AlphaFold Q9CX47
Predicted Effect probably benign
Transcript: ENSMUST00000030773
AA Change: S3G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030773
Gene: ENSMUSG00000028933
AA Change: S3G

DomainStartEndE-ValueType
Pfam:Rad51 38 232 6.6e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131308
Predicted Effect probably null
Transcript: ENSMUST00000134972
AA Change: S3G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198670
Meta Mutation Damage Score 0.0815 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 98% (41/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T A 8: 56,325,933 (GRCm39) M174L probably benign Het
Adamtsl1 C T 4: 86,117,594 (GRCm39) R186W probably damaging Het
Agtpbp1 C T 13: 59,622,383 (GRCm39) V948I probably benign Het
Atp13a2 A G 4: 140,730,466 (GRCm39) T787A probably benign Het
Capn11 T A 17: 45,964,147 (GRCm39) N139I probably damaging Het
Cars1 T C 7: 143,146,244 (GRCm39) D60G possibly damaging Het
Cers1 A T 8: 70,774,186 (GRCm39) I148F probably benign Het
Col14a1 T C 15: 55,201,835 (GRCm39) I41T unknown Het
Cyp2d26 C T 15: 82,678,236 (GRCm39) G47R probably damaging Het
Dhx36 A T 3: 62,405,518 (GRCm39) M205K probably benign Het
Dyrk2 T A 10: 118,697,273 (GRCm39) probably benign Het
Echs1 T C 7: 139,692,390 (GRCm39) H119R possibly damaging Het
Ehf T A 2: 103,107,164 (GRCm39) D120V probably damaging Het
Esrra A G 19: 6,897,544 (GRCm39) L71P probably damaging Het
Fam228a A T 12: 4,768,718 (GRCm39) S200R probably benign Het
Fibcd1 A T 2: 31,724,435 (GRCm39) M191K probably benign Het
Foxn4 A G 5: 114,393,556 (GRCm39) L521P probably damaging Het
Fscn2 T C 11: 120,252,995 (GRCm39) L154P probably damaging Het
Gm7964 T G 7: 83,406,321 (GRCm39) noncoding transcript Het
Golga3 T C 5: 110,353,743 (GRCm39) probably benign Het
Gria4 A G 9: 4,537,717 (GRCm39) L197P probably damaging Het
Heg1 T A 16: 33,562,849 (GRCm39) M913K probably damaging Het
Ifi205 T C 1: 173,845,141 (GRCm39) T214A possibly damaging Het
Ift140 T G 17: 25,239,710 (GRCm39) D122E probably damaging Het
Jakmip1 T A 5: 37,258,087 (GRCm39) D244E probably damaging Het
Krt84 A G 15: 101,438,689 (GRCm39) V266A probably benign Het
Mc2r T A 18: 68,541,224 (GRCm39) D23V probably benign Het
Ncr1 T A 7: 4,341,260 (GRCm39) F47I probably benign Het
Nr1h3 G A 2: 91,022,202 (GRCm39) T142I possibly damaging Het
Obox2 C T 7: 15,130,971 (GRCm39) P68S probably benign Het
Pacs2 G A 12: 113,026,987 (GRCm39) D605N probably damaging Het
Parn A G 16: 13,384,518 (GRCm39) V515A probably benign Het
Ptdss2 T A 7: 140,727,005 (GRCm39) F105I probably benign Het
Ruvbl1 A C 6: 88,442,534 (GRCm39) T9P possibly damaging Het
Slc15a3 A G 19: 10,820,407 (GRCm39) E8G probably benign Het
Slf1 G T 13: 77,251,702 (GRCm39) Y303* probably null Het
Socs5 T C 17: 87,442,377 (GRCm39) F439S probably damaging Het
Tcp10c C A 17: 13,590,473 (GRCm39) A357E probably damaging Het
Tmem200c T C 17: 69,147,942 (GRCm39) V175A probably damaging Het
Vmn2r124 T A 17: 18,269,859 (GRCm39) H38Q possibly damaging Het
Vmn2r54 T G 7: 12,349,578 (GRCm39) Q668P 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
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
R9312:Xrcc2 UTSW 5 25,897,124 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACTGATGCCTCAACTGGTGG -3'
(R):5'- AGACCCGTCGAGATGAGTAACTG -3'

Sequencing Primer
(F):5'- GATGCCTCAACTGGTGGTCCTC -3'
(R):5'- CGTCGAGATGAGTAACTGAAGATAAC -3'
Posted On 2015-06-10