Incidental Mutation 'R5507:Xrcc2'
ID 430971
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 043068-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5507 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 25894812-25910795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25897317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 211 (S211P)
Ref Sequence ENSEMBL: ENSMUSP00000030773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030773] [ENSMUST00000134972]
AlphaFold Q9CX47
Predicted Effect probably benign
Transcript: ENSMUST00000030773
AA Change: S211P

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030773
Gene: ENSMUSG00000028933
AA Change: S211P

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 probably benign
Transcript: ENSMUST00000134972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196083
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.2%
Validation Efficiency 100% (66/66)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A G 4: 39,451,084 (GRCm39) T97A probably damaging Het
1700017N19Rik T C 10: 100,445,095 (GRCm39) S27P probably benign Het
Acoxl C A 2: 127,726,394 (GRCm39) A256E probably damaging Het
Akap9 A G 5: 4,018,683 (GRCm39) E1088G probably benign Het
Alox12 T C 11: 70,145,238 (GRCm39) T112A possibly damaging Het
Ampd2 A G 3: 107,984,929 (GRCm39) V379A probably damaging Het
Ap4e1 C A 2: 126,850,818 (GRCm39) H49N probably damaging Het
Arhgap11a T C 2: 113,672,023 (GRCm39) T260A probably benign Het
Atg2a T C 19: 6,295,100 (GRCm39) F171S possibly damaging Het
Bpifb9b A T 2: 154,158,947 (GRCm39) Y488F possibly damaging Het
C2cd2 T C 16: 97,682,820 (GRCm39) T139A probably benign Het
Cct8l1 A T 5: 25,721,377 (GRCm39) T31S probably benign Het
Cdhr1 A T 14: 36,804,802 (GRCm39) N469K probably damaging Het
Chga T C 12: 102,528,868 (GRCm39) S282P probably benign Het
Chrnb4 T G 9: 54,942,296 (GRCm39) H326P probably damaging Het
Cntnap1 A G 11: 101,074,303 (GRCm39) T748A probably benign Het
Cpsf3 T A 12: 21,347,929 (GRCm39) L250H probably damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dppa5a T A 9: 78,275,353 (GRCm39) D10V possibly damaging Het
Dsc2 G A 18: 20,179,336 (GRCm39) T244I probably damaging Het
Elavl4 T C 4: 110,070,403 (GRCm39) T144A probably benign Het
Ephb1 C T 9: 101,813,315 (GRCm39) V776M probably damaging Het
Fcrl1 C T 3: 87,298,549 (GRCm39) S348F probably benign Het
Fga T A 3: 82,940,643 (GRCm39) W766R probably damaging Het
Galnt14 A G 17: 73,802,661 (GRCm39) V477A probably damaging Het
Gcdh A G 8: 85,619,486 (GRCm39) L103P probably damaging Het
Gm27013 G A 6: 130,652,942 (GRCm39) T840I probably damaging Het
Gpr179 A T 11: 97,229,156 (GRCm39) W1000R probably damaging Het
Hectd4 C T 5: 121,419,164 (GRCm39) A581V unknown Het
Ints12 T A 3: 132,814,921 (GRCm39) V376E probably damaging Het
Krt77 T C 15: 101,769,665 (GRCm39) I402V probably benign Het
Marchf1 T C 8: 66,871,542 (GRCm39) V102A probably damaging Het
Meis1 A T 11: 18,966,168 (GRCm39) N68K probably benign Het
Mthfd1l A G 10: 4,056,432 (GRCm39) E916G probably benign Het
Muc5ac T C 7: 141,361,569 (GRCm39) F1627L possibly damaging Het
Myef2 A T 2: 124,958,623 (GRCm39) M102K probably benign Het
Naip6 A C 13: 100,435,423 (GRCm39) H1033Q probably benign Het
Nid1 T A 13: 13,663,622 (GRCm39) C760* probably null Het
Nt5dc1 A T 10: 34,273,226 (GRCm39) C191S probably benign Het
Nup214 A G 2: 31,878,188 (GRCm39) E285G possibly damaging Het
Nvl A G 1: 180,962,601 (GRCm39) L123P probably damaging Het
Or5t9 T A 2: 86,659,661 (GRCm39) H188Q probably damaging Het
Otog A G 7: 45,911,123 (GRCm39) E658G probably damaging Het
Pam16 G T 16: 4,435,880 (GRCm39) probably benign Het
Psg17 T C 7: 18,553,851 (GRCm39) D133G probably benign Het
Rabgap1l A G 1: 160,178,898 (GRCm39) S21P possibly damaging Het
Rgs22 T A 15: 36,099,798 (GRCm39) M306L probably damaging Het
Ruvbl1 A G 6: 88,444,582 (GRCm39) K59R probably benign Het
Samd9l T C 6: 3,373,898 (GRCm39) E1121G possibly damaging Het
Serpinb13 A G 1: 106,926,332 (GRCm39) N169S probably benign Het
Setbp1 T A 18: 79,129,927 (GRCm39) T102S probably damaging Het
Syn3 A T 10: 85,916,090 (GRCm39) S299T probably benign Het
Taar7a A G 10: 23,868,529 (GRCm39) L284P probably damaging Het
Tlr6 C A 5: 65,110,749 (GRCm39) Q719H probably damaging Het
Tmem131 T A 1: 36,928,361 (GRCm39) D76V probably damaging Het
Tradd T G 8: 105,986,257 (GRCm39) D145A possibly damaging Het
Usp20 A T 2: 30,900,238 (GRCm39) M251L probably benign Het
Vmn2r96 T A 17: 18,818,091 (GRCm39) L556Q 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
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'- GCCTTAGTGCACCTAAAAGCC -3'
(R):5'- TTACTGGATAGACCGAGTCAGTG -3'

Sequencing Primer
(F):5'- GTGCACCTAAAAGCCTTTTTGATG -3'
(R):5'- TAGACCGAGTCAGTGGAGGAG -3'
Posted On 2016-10-05