Incidental Mutation 'R9527:Xrcc5'
ID 719293
Institutional Source Beutler Lab
Gene Symbol Xrcc5
Ensembl Gene ENSMUSG00000026187
Gene Name X-ray repair complementing defective repair in Chinese hamster cells 5
Synonyms Ku86, Ku80
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9527 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 72346586-72434111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72369091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 315 (R315H)
Ref Sequence ENSEMBL: ENSMUSP00000027379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027379]
AlphaFold P27641
Predicted Effect probably damaging
Transcript: ENSMUST00000027379
AA Change: R315H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027379
Gene: ENSMUSG00000026187
AA Change: R315H

DomainStartEndE-ValueType
VWA 7 245 8.07e-2 SMART
Ku78 302 441 8.9e-52 SMART
Pfam:Ku_C 476 570 6.9e-23 PFAM
Pfam:Ku_PK_bind 594 707 9.3e-31 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants are defective in DNA double-strand break repair and show impaired growth and severe combined immunodeficiency due to defective assembly of TCRs and immunoglobulins. Mutants die early with osteopenia, atrophic skin and hepatic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A G 2: 127,886,284 (GRCm39) D453G probably benign Het
Aqr A C 2: 113,932,037 (GRCm39) S1443R probably benign Het
Atr T C 9: 95,767,429 (GRCm39) M1162T probably damaging Het
Bicdl1 T A 5: 115,811,188 (GRCm39) N241I possibly damaging Het
Catip A G 1: 74,401,637 (GRCm39) N38S probably benign Het
Cct6b A G 11: 82,630,447 (GRCm39) probably null Het
Clspn A T 4: 126,453,792 (GRCm39) R72* probably null Het
Cntln A G 4: 84,892,120 (GRCm39) Q335R probably damaging Het
Col9a2 T C 4: 120,899,528 (GRCm39) probably null Het
Dip2c A G 13: 9,544,875 (GRCm39) N55D unknown Het
Dnajc5b A T 3: 19,633,248 (GRCm39) D157V probably damaging Het
Exoc6 T G 19: 37,558,987 (GRCm39) D86E probably benign Het
Fam204a A T 19: 60,208,992 (GRCm39) H87Q probably damaging Het
Fer1l4 A G 2: 155,871,617 (GRCm39) W1388R probably damaging Het
Hcn2 A T 10: 79,570,706 (GRCm39) I642F probably benign Het
Igsf9 C A 1: 172,323,244 (GRCm39) L653M probably damaging Het
Imp4 A G 1: 34,481,991 (GRCm39) E38G probably benign Het
Kirrel1 C A 3: 86,996,912 (GRCm39) E297* probably null Het
Krt82 G A 15: 101,454,558 (GRCm39) T222I probably benign Het
Lysmd1 T C 3: 95,042,156 (GRCm39) L10P probably benign Het
Mcmbp A G 7: 128,305,242 (GRCm39) S509P probably damaging Het
Mms19 A T 19: 41,952,830 (GRCm39) I93N possibly damaging Het
Mtmr7 A G 8: 41,011,345 (GRCm39) F402L possibly damaging Het
Myo1h C T 5: 114,453,098 (GRCm39) R49C Het
Scd3 T C 19: 44,226,816 (GRCm39) Y217H probably benign Het
Snx17 T C 5: 31,353,826 (GRCm39) Y205H probably damaging Het
Spag17 T A 3: 99,970,777 (GRCm39) D1320E probably damaging Het
Tasor2 A T 13: 3,635,191 (GRCm39) S539T possibly damaging Het
Xirp1 C A 9: 119,847,558 (GRCm39) V442L probably damaging Het
Yju2b A T 8: 84,989,652 (GRCm39) C56S probably damaging Het
Zc3hav1 C A 6: 38,330,913 (GRCm39) C82F probably damaging Het
Zfp787 A G 7: 6,136,027 (GRCm39) F75L probably damaging Het
Zswim3 C T 2: 164,662,285 (GRCm39) T255I probably damaging Het
Other mutations in Xrcc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Xrcc5 APN 1 72,393,404 (GRCm39) missense probably benign 0.01
IGL01599:Xrcc5 APN 1 72,385,508 (GRCm39) missense possibly damaging 0.72
IGL01714:Xrcc5 APN 1 72,369,143 (GRCm39) missense probably damaging 0.98
IGL02740:Xrcc5 APN 1 72,379,240 (GRCm39) critical splice donor site probably null
IGL02884:Xrcc5 APN 1 72,385,396 (GRCm39) missense possibly damaging 0.95
barbarian UTSW 1 72,353,337 (GRCm39) missense probably damaging 1.00
durio UTSW 1 72,378,188 (GRCm39) missense probably damaging 1.00
Highlander UTSW 1 72,358,286 (GRCm39) missense possibly damaging 0.55
monoculture UTSW 1 72,382,189 (GRCm39) missense possibly damaging 0.82
xenophobe UTSW 1 72,351,595 (GRCm39) missense probably damaging 1.00
zibethinus UTSW 1 72,349,617 (GRCm39) missense probably damaging 1.00
PIT4362001:Xrcc5 UTSW 1 72,433,088 (GRCm39) missense probably benign
R0309:Xrcc5 UTSW 1 72,346,735 (GRCm39) unclassified probably benign
R0485:Xrcc5 UTSW 1 72,378,104 (GRCm39) splice site probably benign
R1004:Xrcc5 UTSW 1 72,422,937 (GRCm39) splice site probably benign
R1421:Xrcc5 UTSW 1 72,349,636 (GRCm39) missense probably benign 0.00
R1530:Xrcc5 UTSW 1 72,369,103 (GRCm39) missense probably damaging 0.98
R1694:Xrcc5 UTSW 1 72,358,255 (GRCm39) missense possibly damaging 0.88
R1750:Xrcc5 UTSW 1 72,364,246 (GRCm39) nonsense probably null
R2037:Xrcc5 UTSW 1 72,385,529 (GRCm39) missense probably benign 0.01
R2296:Xrcc5 UTSW 1 72,385,485 (GRCm39) missense probably benign 0.00
R4299:Xrcc5 UTSW 1 72,433,879 (GRCm39) makesense probably null
R4388:Xrcc5 UTSW 1 72,369,189 (GRCm39) missense possibly damaging 0.46
R4527:Xrcc5 UTSW 1 72,351,659 (GRCm39) missense probably damaging 1.00
R4857:Xrcc5 UTSW 1 72,365,424 (GRCm39) missense possibly damaging 0.92
R5073:Xrcc5 UTSW 1 72,378,188 (GRCm39) missense probably damaging 1.00
R5233:Xrcc5 UTSW 1 72,379,209 (GRCm39) missense probably damaging 1.00
R5521:Xrcc5 UTSW 1 72,385,430 (GRCm39) missense probably damaging 1.00
R5996:Xrcc5 UTSW 1 72,349,617 (GRCm39) missense probably damaging 1.00
R6583:Xrcc5 UTSW 1 72,351,752 (GRCm39) critical splice donor site probably null
R6638:Xrcc5 UTSW 1 72,422,521 (GRCm39) missense possibly damaging 0.94
R6935:Xrcc5 UTSW 1 72,382,189 (GRCm39) missense possibly damaging 0.82
R7046:Xrcc5 UTSW 1 72,433,875 (GRCm39) missense probably benign 0.00
R7446:Xrcc5 UTSW 1 72,433,132 (GRCm39) splice site probably null
R7473:Xrcc5 UTSW 1 72,351,748 (GRCm39) missense probably damaging 1.00
R7875:Xrcc5 UTSW 1 72,369,090 (GRCm39) missense probably damaging 1.00
R7889:Xrcc5 UTSW 1 72,395,985 (GRCm39) missense probably benign 0.45
R8088:Xrcc5 UTSW 1 72,351,595 (GRCm39) missense probably damaging 1.00
R8179:Xrcc5 UTSW 1 72,396,016 (GRCm39) missense probably damaging 0.99
R8297:Xrcc5 UTSW 1 72,364,244 (GRCm39) missense possibly damaging 0.47
R8309:Xrcc5 UTSW 1 72,358,286 (GRCm39) missense possibly damaging 0.55
R8717:Xrcc5 UTSW 1 72,422,905 (GRCm39) missense probably benign
R8775:Xrcc5 UTSW 1 72,433,089 (GRCm39) missense probably benign 0.01
R8775-TAIL:Xrcc5 UTSW 1 72,433,089 (GRCm39) missense probably benign 0.01
R8798:Xrcc5 UTSW 1 72,353,337 (GRCm39) missense probably damaging 1.00
R8889:Xrcc5 UTSW 1 72,382,190 (GRCm39) missense possibly damaging 0.90
R8892:Xrcc5 UTSW 1 72,382,190 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- GGGCAATAATTTGGTTCCAGGG -3'
(R):5'- CATCCCCAAACTACATTTTAGATACTG -3'

Sequencing Primer
(F):5'- CAATAATTTGGTTCCAGGGAGCAG -3'
(R):5'- GTCCACAACTGCAGAGTA -3'
Posted On 2022-07-18