Incidental Mutation 'R9054:Rad51c'
ID 688579
Institutional Source Beutler Lab
Gene Symbol Rad51c
Ensembl Gene ENSMUSG00000007646
Gene Name RAD51 paralog C
Synonyms Rad51l2
MMRRC Submission 068880-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9054 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 87267471-87295780 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87293542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 105 (T105A)
Ref Sequence ENSEMBL: ENSMUSP00000007790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007790] [ENSMUST00000060835] [ENSMUST00000067692] [ENSMUST00000129400] [ENSMUST00000153073]
AlphaFold Q924H5
Predicted Effect probably benign
Transcript: ENSMUST00000007790
AA Change: T105A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000007790
Gene: ENSMUSG00000007646
AA Change: T105A

DomainStartEndE-ValueType
low complexity region 10 26 N/A INTRINSIC
Pfam:Rad51 91 359 1.7e-32 PFAM
Pfam:AAA_25 97 298 1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060835
SMART Domains Protein: ENSMUSP00000054444
Gene: ENSMUSG00000010342

DomainStartEndE-ValueType
ANK 22 51 7.99e2 SMART
ANK 55 84 6.36e-3 SMART
ANK 88 117 3.49e0 SMART
Pfam:Pkinase 251 504 3.5e-19 PFAM
Pfam:Pkinase_Tyr 254 503 8.1e-28 PFAM
coiled coil region 659 684 N/A INTRINSIC
coiled coil region 740 776 N/A INTRINSIC
low complexity region 1219 1236 N/A INTRINSIC
coiled coil region 1289 1309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000067692
AA Change: T87A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064079
Gene: ENSMUSG00000007646
AA Change: T87A

DomainStartEndE-ValueType
Pfam:Rad51 73 341 1.9e-32 PFAM
Pfam:AAA_25 79 280 7.6e-10 PFAM
Pfam:KaiC 91 137 2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129400
AA Change: T87A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121928
Gene: ENSMUSG00000007646
AA Change: T87A

DomainStartEndE-ValueType
PDB:1PZN|G 10 125 2e-9 PDB
SCOP:d1g8ya_ 91 125 9e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153073
AA Change: T87A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000122811
Gene: ENSMUSG00000007646
AA Change: T87A

DomainStartEndE-ValueType
Pfam:Rad51 73 315 3.2e-28 PFAM
Pfam:AAA_25 79 280 2.1e-10 PFAM
Pfam:KaiC 91 137 1.7e-8 PFAM
Meta Mutation Damage Score 0.0790 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality. Mice carrying a null and a hypomorphic allele have partial penetrance of male and female infertility due to defects in meiosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankef1 T A 2: 136,395,594 (GRCm39) D641E probably benign Het
Anln A G 9: 22,272,116 (GRCm39) probably null Het
Areg A T 5: 91,292,217 (GRCm39) E172D probably damaging Het
Ccdc51 A T 9: 108,918,482 (GRCm39) T24S probably benign Het
Cckar A T 5: 53,860,424 (GRCm39) I135N probably damaging Het
Cdca7 CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA CGAGGAAGAGGAGGAGGAAGAGGA 2: 72,313,821 (GRCm39) probably benign Het
Cep295 T C 9: 15,235,551 (GRCm39) H2056R possibly damaging Het
Chrnb2 T C 3: 89,664,562 (GRCm39) K451E probably damaging Het
Ctnna2 C T 6: 76,919,249 (GRCm39) R663Q probably benign Het
Cyp4f37 A T 17: 32,853,253 (GRCm39) I406F probably benign Het
Eml4 T A 17: 83,734,640 (GRCm39) probably benign Het
Fkrp G T 7: 16,544,569 (GRCm39) T431K probably damaging Het
Fsip2 A T 2: 82,806,180 (GRCm39) Y833F possibly damaging Het
Galnt2 T C 8: 125,058,837 (GRCm39) probably null Het
Gm8180 T A 14: 44,019,806 (GRCm39) probably null Het
Hcn1 T C 13: 118,108,171 (GRCm39) S552P unknown Het
Ifit1 A C 19: 34,625,887 (GRCm39) E341A possibly damaging Het
Iyd A G 10: 3,490,250 (GRCm39) probably benign Het
Krt72 A T 15: 101,694,836 (GRCm39) S20T probably damaging Het
Lemd2 G T 17: 27,423,069 (GRCm39) D108E probably benign Het
Lipn A T 19: 34,054,376 (GRCm39) I205F possibly damaging Het
Nat1 G T 8: 67,943,723 (GRCm39) R36L probably benign Het
Nebl A T 2: 17,415,907 (GRCm39) M334K possibly damaging Het
Nectin4 A T 1: 171,214,351 (GRCm39) N502I probably damaging Het
Nrp1 G A 8: 129,214,389 (GRCm39) V626I probably benign Het
Oprm1 G A 10: 6,773,914 (GRCm39) probably benign Het
Or52w1 A G 7: 105,017,680 (GRCm39) Y49C probably damaging Het
Or8a1b C T 9: 37,623,204 (GRCm39) V124M probably damaging Het
Pde2a A G 7: 101,156,927 (GRCm39) Y637C probably damaging Het
Pde4d T C 13: 110,071,924 (GRCm39) V306A probably damaging Het
Pdzd9 G A 7: 120,269,498 (GRCm39) probably benign Het
Pitpnm3 T A 11: 71,947,017 (GRCm39) D810V probably damaging Het
Pkd1l3 A T 8: 110,392,304 (GRCm39) H1966L probably benign Het
Pmfbp1 C T 8: 110,247,661 (GRCm39) T319I possibly damaging Het
Pramel28 T C 4: 143,692,314 (GRCm39) Q229R probably benign Het
Prb1c G C 6: 132,338,856 (GRCm39) Q121E unknown Het
Psg18 T A 7: 18,087,450 (GRCm39) R69S possibly damaging Het
Ptprg A T 14: 12,213,638 (GRCm38) Q1002L possibly damaging Het
Ptprj T C 2: 90,290,984 (GRCm39) Y585C probably damaging Het
Rbm12 A T 2: 155,937,481 (GRCm39) D930E unknown Het
Rlf A C 4: 121,007,784 (GRCm39) S509A possibly damaging Het
Slc39a3 C A 10: 80,869,499 (GRCm39) G53C probably damaging Het
Smchd1 G A 17: 71,670,017 (GRCm39) Q1685* probably null Het
Sprr2d A C 3: 92,247,715 (GRCm39) E52A unknown Het
Stat1 A G 1: 52,182,086 (GRCm39) N355S probably damaging Het
Tmem30b T C 12: 73,592,923 (GRCm39) E64G probably benign Het
Ttll11 A T 2: 35,869,392 (GRCm39) V82D probably benign Het
Ttn T A 2: 76,570,977 (GRCm39) T26639S probably damaging Het
Usp53 A T 3: 122,727,725 (GRCm39) N952K probably benign Het
Vmn1r199 T A 13: 22,567,724 (GRCm39) H339Q possibly damaging Het
Vps13b G A 15: 35,422,537 (GRCm39) D166N probably damaging Het
Zfp954 C A 7: 7,119,097 (GRCm39) C149F probably benign Het
Other mutations in Rad51c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02457:Rad51c APN 11 87,271,681 (GRCm39) missense possibly damaging 0.92
IGL03096:Rad51c APN 11 87,279,472 (GRCm39) missense probably damaging 1.00
IGL03493:Rad51c APN 11 87,288,579 (GRCm39) missense probably benign 0.00
R0415:Rad51c UTSW 11 87,288,481 (GRCm39) missense probably damaging 0.99
R1875:Rad51c UTSW 11 87,279,469 (GRCm39) missense probably damaging 0.99
R2098:Rad51c UTSW 11 87,293,589 (GRCm39) missense probably benign
R4172:Rad51c UTSW 11 87,293,572 (GRCm39) missense probably damaging 1.00
R4798:Rad51c UTSW 11 87,286,204 (GRCm39) missense probably damaging 1.00
R5054:Rad51c UTSW 11 87,288,580 (GRCm39) missense probably benign 0.06
R5182:Rad51c UTSW 11 87,288,545 (GRCm39) missense possibly damaging 0.85
R5381:Rad51c UTSW 11 87,288,459 (GRCm39) missense probably benign 0.00
R6087:Rad51c UTSW 11 87,271,705 (GRCm39) missense probably benign 0.02
R7066:Rad51c UTSW 11 87,293,502 (GRCm39) missense possibly damaging 0.56
R7714:Rad51c UTSW 11 87,292,276 (GRCm39) missense probably benign 0.00
R8242:Rad51c UTSW 11 87,280,712 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCCTGACTACAAACTCACAGCAG -3'
(R):5'- TTGATTCCCCAACTGCTAAATAAC -3'

Sequencing Primer
(F):5'- GACTACAAACTCACAGCAGAATATTC -3'
(R):5'- CTGGAACTCGATCTGTAGACCATG -3'
Posted On 2021-11-19