Incidental Mutation 'R6087:Rad51c'
ID 484616
Institutional Source Beutler Lab
Gene Symbol Rad51c
Ensembl Gene ENSMUSG00000007646
Gene Name RAD51 paralog C
Synonyms Rad51l2
MMRRC Submission 044244-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6087 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 87267471-87295780 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87271705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 318 (Y318H)
Ref Sequence ENSEMBL: ENSMUSP00000064079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007790] [ENSMUST00000067692] [ENSMUST00000129400] [ENSMUST00000153073]
AlphaFold Q924H5
Predicted Effect probably benign
Transcript: ENSMUST00000007790
AA Change: Y336H

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000007790
Gene: ENSMUSG00000007646
AA Change: Y336H

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: ENSMUST00000067692
AA Change: Y318H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000064079
Gene: ENSMUSG00000007646
AA Change: Y318H

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
SMART Domains Protein: ENSMUSP00000121928
Gene: ENSMUSG00000007646

DomainStartEndE-ValueType
PDB:1PZN|G 10 125 2e-9 PDB
SCOP:d1g8ya_ 91 125 9e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153073
SMART Domains Protein: ENSMUSP00000122811
Gene: ENSMUSG00000007646

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.2%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A G 5: 88,119,621 (GRCm39) K126R possibly damaging Het
Adam7 A T 14: 68,748,206 (GRCm39) C548S probably damaging Het
Adar C A 3: 89,652,897 (GRCm39) H260N probably benign Het
Ak9 A G 10: 41,258,828 (GRCm39) E775G probably benign Het
Arhgap35 T C 7: 16,297,568 (GRCm39) Y499C probably damaging Het
Bank1 A G 3: 135,772,190 (GRCm39) L480P probably damaging Het
Cep135 G T 5: 76,763,638 (GRCm39) probably null Het
Cnga1 G T 5: 72,768,155 (GRCm39) A177E probably damaging Het
Cubn T A 2: 13,432,658 (GRCm39) D1221V probably damaging Het
Cyp2d40 T C 15: 82,648,205 (GRCm39) Y36C possibly damaging Het
Dock8 C A 19: 25,138,438 (GRCm39) N1254K probably benign Het
Elapor2 T C 5: 9,449,255 (GRCm39) S128P probably damaging Het
Fam13b C T 18: 34,620,192 (GRCm39) V231I possibly damaging Het
Fbxo8 T A 8: 57,022,353 (GRCm39) Y122N probably damaging Het
Fmo2 T A 1: 162,708,002 (GRCm39) I378F probably benign Het
Golga3 A T 5: 110,352,812 (GRCm39) Q861L probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ighv3-8 G T 12: 114,286,000 (GRCm39) A114E probably damaging Het
Itga3 C T 11: 94,943,269 (GRCm39) probably null Het
Kank1 G A 19: 25,387,088 (GRCm39) V254I probably benign Het
Lipo5 A T 19: 33,443,375 (GRCm39) I147K unknown Het
Lrfn2 A G 17: 49,378,154 (GRCm39) S412G probably benign Het
Lrrn3 T C 12: 41,503,534 (GRCm39) N261S possibly damaging Het
Mical2 C T 7: 111,917,692 (GRCm39) Q350* probably null Het
Nras T C 3: 102,967,637 (GRCm39) F78L probably damaging Het
Nudt9 A G 5: 104,198,679 (GRCm39) I65V probably benign Het
Or10ag59 A G 2: 87,406,259 (GRCm39) D277G probably benign Het
Or4f17-ps1 A T 2: 111,358,526 (GRCm39) E289V possibly damaging Het
Oscar G A 7: 3,614,311 (GRCm39) P143S probably benign Het
Pla2g4d C T 2: 120,100,487 (GRCm39) G615D probably damaging Het
Plekha1 T G 7: 130,502,301 (GRCm39) S175A probably benign Het
Psg27 T C 7: 18,290,869 (GRCm39) K445E probably benign Het
Ret G T 6: 118,153,252 (GRCm39) T472K possibly damaging Het
Tarbp1 T C 8: 127,155,709 (GRCm39) D1343G probably benign Het
Top2b C A 14: 16,409,864 (GRCm38) R844S probably benign Het
Vmn1r171 T A 7: 23,332,429 (GRCm39) M218K probably damaging Het
Vmn2r89 A T 14: 51,695,033 (GRCm39) probably null Het
Zc3h13 T A 14: 75,568,149 (GRCm39) D1147E probably damaging Het
Zgrf1 T A 3: 127,409,135 (GRCm39) L1703H probably damaging 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
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
R9054:Rad51c UTSW 11 87,293,542 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGGTGTTCTCACATCTAGACTATC -3'
(R):5'- TGTCTGAGACTGAAAGCACCC -3'

Sequencing Primer
(F):5'- AGACTATCCTCAAATATGCTTGCTGC -3'
(R):5'- AGTGCTGCCCTGTGAGGAAG -3'
Posted On 2017-08-16