Incidental Mutation 'R7066:Rad51c'
ID 548584
Institutional Source Beutler Lab
Gene Symbol Rad51c
Ensembl Gene ENSMUSG00000007646
Gene Name RAD51 paralog C
Synonyms Rad51l2
MMRRC Submission 045162-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7066 (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 87293502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 118 (N118S)
Ref Sequence ENSEMBL: ENSMUSP00000007790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007790] [ENSMUST00000060835] [ENSMUST00000067692] [ENSMUST00000129400] [ENSMUST00000153073]
AlphaFold Q924H5
Predicted Effect possibly damaging
Transcript: ENSMUST00000007790
AA Change: N118S

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000007790
Gene: ENSMUSG00000007646
AA Change: N118S

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: N100S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000064079
Gene: ENSMUSG00000007646
AA Change: N100S

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: N100S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000121928
Gene: ENSMUSG00000007646
AA Change: N100S

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: N100S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000122811
Gene: ENSMUSG00000007646
AA Change: N100S

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 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (52/53)
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
A1cf T C 19: 31,904,514 (GRCm39) V175A probably damaging Het
Adamts5 A T 16: 85,659,652 (GRCm39) V880E probably damaging Het
Adgrf1 T A 17: 43,621,151 (GRCm39) F463I probably benign Het
Ano1 T A 7: 144,190,823 (GRCm39) E249D probably benign Het
Aoc1 A G 6: 48,885,553 (GRCm39) D686G probably damaging Het
Cacna1d A T 14: 30,074,935 (GRCm39) probably benign Het
Cdc42ep4 A G 11: 113,620,044 (GRCm39) S116P probably damaging Het
Ces2a T C 8: 105,466,880 (GRCm39) V463A probably damaging Het
Depdc5 A G 5: 33,059,192 (GRCm39) D297G probably benign Het
Fsip2 T A 2: 82,821,235 (GRCm39) V5656E possibly damaging Het
Gbp5 A G 3: 142,213,490 (GRCm39) T469A probably benign Het
Gm21663 C G 5: 26,146,259 (GRCm39) probably null Het
Iqch A G 9: 63,432,027 (GRCm39) V456A probably benign Het
Lpcat1 A C 13: 73,659,500 (GRCm39) I373L probably benign Het
Morc2b C T 17: 33,355,610 (GRCm39) V721I probably benign Het
Mrgprb1 C T 7: 48,097,424 (GRCm39) V163M probably benign Het
Mtfr2 A G 10: 20,229,972 (GRCm39) I142V possibly damaging Het
Muc16 A T 9: 18,569,317 (GRCm39) S1067R unknown Het
Myh14 T C 7: 44,280,179 (GRCm39) S892G possibly damaging Het
Mylk2 C T 2: 152,753,588 (GRCm39) probably null Het
Mzf1 A T 7: 12,777,490 (GRCm39) V638E possibly damaging Het
Ncoa1 C T 12: 4,372,934 (GRCm39) V156I possibly damaging Het
Nf1 A G 11: 79,447,546 (GRCm39) E2450G probably damaging Het
Or14j3 T A 17: 37,901,034 (GRCm39) D70V probably damaging Het
Or1e29 A G 11: 73,668,018 (GRCm39) I45T probably damaging Het
Or4a72 T C 2: 89,406,047 (GRCm39) T8A probably damaging Het
Or4f60 G A 2: 111,902,541 (GRCm39) P129L probably damaging Het
Or5t7 T A 2: 86,507,570 (GRCm39) T36S possibly damaging Het
Or6c88 T C 10: 129,407,373 (GRCm39) L283S probably damaging Het
Or8g54 A G 9: 39,707,420 (GRCm39) I250V probably benign Het
Or8k17 T C 2: 86,067,002 (GRCm39) D52G probably damaging Het
P4htm T G 9: 108,474,162 (GRCm39) K125N probably damaging Het
Patj A G 4: 98,301,434 (GRCm39) T240A probably benign Het
Pcolce2 T C 9: 95,563,674 (GRCm39) V220A probably benign Het
Pcyox1 A T 6: 86,371,478 (GRCm39) I136N probably damaging Het
Pde4b A G 4: 102,460,003 (GRCm39) S395G probably benign Het
Peg3 C A 7: 6,711,856 (GRCm39) R1122L probably damaging Het
Plekhm1 A G 11: 103,261,814 (GRCm39) V922A possibly damaging Het
Rb1cc1 T A 1: 6,320,229 (GRCm39) V1216D possibly damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rlf T C 4: 121,005,984 (GRCm39) M999V probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,125 (GRCm39) probably benign Het
Samd7 G C 3: 30,805,272 (GRCm39) K18N probably benign Het
Sema5b A C 16: 35,471,682 (GRCm39) D425A probably benign Het
Siglecg A G 7: 43,061,166 (GRCm39) E413G probably benign Het
Tcaf1 A T 6: 42,656,111 (GRCm39) N288K probably damaging Het
Tdp1 A G 12: 99,860,991 (GRCm39) D210G probably benign Het
Umps A T 16: 33,782,103 (GRCm39) L273* probably null Het
Vcan A T 13: 89,853,805 (GRCm39) V385D probably damaging Het
Wdr59 T C 8: 112,192,477 (GRCm39) T676A probably benign Het
Zdbf2 A G 1: 63,346,718 (GRCm39) H1699R probably benign Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,594,446 (GRCm39) 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
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'- TCCTGGATAATATGATGGTAAGCTG -3'
(R):5'- GTTGGGATATCTAAAGAGGAAGCCTTG -3'

Sequencing Primer
(F):5'- CAAAGTAGTACTGTATGCTTCTTGG -3'
(R):5'- AGGAAGCCTTGGAAACTCTAC -3'
Posted On 2019-05-13