Incidental Mutation 'R8242:Rad51c'
ID 637616
Institutional Source Beutler Lab
Gene Symbol Rad51c
Ensembl Gene ENSMUSG00000007646
Gene Name RAD51 paralog C
Synonyms Rad51l2
MMRRC Submission 067647-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8242 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 87267471-87295780 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87280712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 293 (N293K)
Ref Sequence ENSEMBL: ENSMUSP00000007790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007790] [ENSMUST00000067692] [ENSMUST00000129400] [ENSMUST00000153073]
AlphaFold Q924H5
Predicted Effect probably damaging
Transcript: ENSMUST00000007790
AA Change: N293K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007790
Gene: ENSMUSG00000007646
AA Change: N293K

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 damaging
Transcript: ENSMUST00000067692
AA Change: N275K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064079
Gene: ENSMUSG00000007646
AA Change: N275K

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 damaging
Transcript: ENSMUST00000153073
AA Change: N275K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122811
Gene: ENSMUSG00000007646
AA Change: N275K

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.2%
Validation Efficiency 98% (42/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,374,118 (GRCm39) Y736H possibly damaging Het
Akr1c12 G A 13: 4,322,269 (GRCm39) R258* probably null Het
Ankfn1 C G 11: 89,417,271 (GRCm39) probably null Het
Arfgef3 T C 10: 18,505,824 (GRCm39) K947E probably benign Het
Barx2 C A 9: 31,824,227 (GRCm39) R54L probably damaging Het
BC030500 T C 8: 59,365,388 (GRCm39) I13T unknown Het
Bcl11a T A 11: 24,113,208 (GRCm39) F184I probably benign Het
Cfap251 T A 5: 123,411,914 (GRCm39) D515E possibly damaging Het
Cfap43 A G 19: 47,885,808 (GRCm39) L269P probably damaging Het
Col8a1 G T 16: 57,452,721 (GRCm39) P94Q possibly damaging Het
Coq5 T C 5: 115,417,806 (GRCm39) V12A probably benign Het
Csmd1 A G 8: 16,760,670 (GRCm39) V155A probably benign Het
Defb22 A C 2: 152,328,007 (GRCm39) C59W probably damaging Het
Dsg3 A G 18: 20,669,980 (GRCm39) T665A possibly damaging Het
Gm10542 A G 18: 44,337,708 (GRCm39) D62G possibly damaging Het
Gm45861 G A 8: 28,038,821 (GRCm39) S987N unknown Het
Gm5591 T A 7: 38,219,746 (GRCm39) T376S probably benign Het
Hps3 C T 3: 20,068,290 (GRCm39) R588H possibly damaging Het
Itpr1 A T 6: 108,363,658 (GRCm39) D760V probably benign Het
Mfsd8 G A 3: 40,789,628 (GRCm39) R140C probably damaging Het
Mroh2b A T 15: 4,938,522 (GRCm39) R270S probably benign Het
Mroh4 G T 15: 74,488,157 (GRCm39) H350N possibly damaging Het
Nsd3 G T 8: 26,196,567 (GRCm39) E1183* probably null Het
Or13a19 T A 7: 139,902,696 (GRCm39) L28* probably null Het
Or4p7 A G 2: 88,222,418 (GRCm39) I276V possibly damaging Het
Or51f23b T C 7: 102,402,306 (GRCm39) M277V probably benign Het
Or8k53 A T 2: 86,177,426 (GRCm39) M228K probably damaging Het
Pex5l T A 3: 33,060,184 (GRCm39) T196S probably benign Het
Phlpp2 T C 8: 110,666,834 (GRCm39) V1121A probably benign Het
Rab3gap2 T A 1: 184,954,050 (GRCm39) S41T probably benign Het
Rgs3 C A 4: 62,538,022 (GRCm39) Q18K probably benign Het
Ripk2 C T 4: 16,124,430 (GRCm39) G426D probably benign Het
Rpl22l1 T C 3: 28,860,914 (GRCm39) V44A possibly damaging Het
Sntb1 C T 15: 55,655,629 (GRCm39) A196T possibly damaging Het
Sorcs3 C T 19: 48,194,913 (GRCm39) R99W possibly damaging Het
Tdrd6 T C 17: 43,939,821 (GRCm39) E409G probably damaging Het
Timm50 A T 7: 28,007,836 (GRCm39) D105E probably benign Het
Tsga10 A T 1: 37,846,182 (GRCm39) S315T probably benign Het
Ttpa G A 4: 20,028,511 (GRCm39) C256Y probably damaging Het
Vinac1 G T 2: 128,881,313 (GRCm39) C204* probably null Het
Vmn2r13 T C 5: 109,322,872 (GRCm39) Y139C possibly damaging Het
Washc5 A G 15: 59,215,971 (GRCm39) S803P probably damaging Het
Zfp985 A C 4: 147,668,639 (GRCm39) K502N possibly 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
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
R9054:Rad51c UTSW 11 87,293,542 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ATGGTCTACAGACTGAATGCC -3'
(R):5'- TTTTCAAACGAGCATATTCCCC -3'

Sequencing Primer
(F):5'- GCCTCCTAGGGATTTTAACACTTGG -3'
(R):5'- GGCATCAGATCCCATTTCAGATG -3'
Posted On 2020-07-13