Incidental Mutation 'R0678:Xrcc2'
ID 61703
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 038863-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0678 (G1)
Quality Score 139
Status Not validated
Chromosome 5
Chromosomal Location 25894812-25910795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25903261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 37 (S37P)
Ref Sequence ENSEMBL: ENSMUSP00000143032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030773] [ENSMUST00000134972]
AlphaFold Q9CX47
Predicted Effect possibly damaging
Transcript: ENSMUST00000030773
AA Change: S37P

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030773
Gene: ENSMUSG00000028933
AA Change: S37P

DomainStartEndE-ValueType
Pfam:Rad51 38 232 6.6e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000114922
SMART Domains Protein: ENSMUSP00000110572
Gene: ENSMUSG00000028933

DomainStartEndE-ValueType
Pfam:Rad51 1 178 7.9e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131308
Predicted Effect possibly damaging
Transcript: ENSMUST00000134972
AA Change: S37P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Egfl7 C T 2: 26,480,952 (GRCm39) R155C probably benign Het
Fat4 T C 3: 38,943,843 (GRCm39) I912T probably damaging Het
H2-M5 A G 17: 37,300,034 (GRCm39) F47L possibly damaging Het
H2-T24 A T 17: 36,328,333 (GRCm39) F50Y probably damaging Het
Hif1a A G 12: 73,990,965 (GRCm39) probably null Het
Ints11 T C 4: 155,972,210 (GRCm39) I405T probably damaging Het
Kmt2d A T 15: 98,748,294 (GRCm39) probably benign Het
Pld1 T A 3: 28,174,933 (GRCm39) V857D probably damaging Het
Ptgr3 A G 18: 84,113,287 (GRCm39) E321G probably benign Het
Rab11fip3 G A 17: 26,287,821 (GRCm39) P111S probably benign Het
Rad17 A T 13: 100,781,692 (GRCm39) I35N possibly damaging Het
Rnf31 C A 14: 55,839,170 (GRCm39) Y66* probably null Het
Sec31a T C 5: 100,555,084 (GRCm39) I45M possibly damaging Het
Sele T C 1: 163,882,298 (GRCm39) probably null Het
Serpina3i G T 12: 104,232,978 (GRCm39) probably null Het
Sp6 T A 11: 96,912,607 (GRCm39) W107R probably damaging Het
Sphkap A T 1: 83,256,349 (GRCm39) W467R probably benign Het
Thbs1 T C 2: 117,953,387 (GRCm39) F935L probably damaging Het
Vmn2r8 T A 5: 108,948,412 (GRCm39) H492L probably benign Het
Zfand1 T A 3: 10,413,577 (GRCm39) I31L probably benign Het
Zfr G A 15: 12,184,171 (GRCm39) D1058N probably damaging Het
Other mutations in Xrcc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9312:Xrcc2 UTSW 5 25,897,124 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCAGAATTCCCATGAACAATGAGCG -3'
(R):5'- TGCAGTCTTAGAGCCAAGCAGC -3'

Sequencing Primer
(F):5'- CATATGCACTGAAGATGCTGTC -3'
(R):5'- ctcacagcacggttacctc -3'
Posted On 2013-07-30