Incidental Mutation 'R5396:Rad51d'
ID 429692
Institutional Source Beutler Lab
Gene Symbol Rad51d
Ensembl Gene ENSMUSG00000018841
Gene Name RAD51 paralog D
Synonyms Rad51l3, R51H3
MMRRC Submission 044394-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5396 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 82767260-82781440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82781196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 17 (V17A)
Ref Sequence ENSEMBL: ENSMUSP00000117401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018985] [ENSMUST00000018988] [ENSMUST00000021033] [ENSMUST00000092844] [ENSMUST00000100718] [ENSMUST00000135963] [ENSMUST00000146053]
AlphaFold O55230
Predicted Effect possibly damaging
Transcript: ENSMUST00000018985
AA Change: V17A

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000018985
Gene: ENSMUSG00000018841
AA Change: V17A

DomainStartEndE-ValueType
PDB:2KZ3|A 1 83 2e-27 PDB
AAA 99 274 1.5e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000018988
SMART Domains Protein: ENSMUSP00000018988
Gene: ENSMUSG00000018844

DomainStartEndE-ValueType
low complexity region 159 170 N/A INTRINSIC
FN3 176 264 9.48e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000021033
AA Change: V17A

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021033
Gene: ENSMUSG00000018841
AA Change: V17A

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
low complexity region 49 59 N/A INTRINSIC
Pfam:Rad51 64 249 3e-15 PFAM
Pfam:AAA_25 69 200 2e-12 PFAM
Pfam:KaiC 82 148 1.4e-10 PFAM
Pfam:AAA_19 93 168 6.7e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000092844
AA Change: V17A

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090520
Gene: ENSMUSG00000018841
AA Change: V17A

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
low complexity region 49 59 N/A INTRINSIC
Pfam:Rad51 66 130 2.4e-7 PFAM
Pfam:KaiC 82 129 8e-8 PFAM
Pfam:Rad51 115 274 8.5e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100718
AA Change: V17A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098284
Gene: ENSMUSG00000018841
AA Change: V17A

DomainStartEndE-ValueType
PDB:2KZ3|A 1 83 5e-30 PDB
SCOP:d1b22a_ 10 48 2e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000135963
AA Change: V17A

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122477
Gene: ENSMUSG00000018841
AA Change: V17A

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
low complexity region 49 59 N/A INTRINSIC
Pfam:Rad51 64 219 7e-18 PFAM
Pfam:AAA_25 69 226 2.6e-15 PFAM
Pfam:KaiC 82 216 5.7e-12 PFAM
Pfam:AAA_19 93 168 1.4e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000146053
AA Change: V17A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117401
Gene: ENSMUSG00000018841
AA Change: V17A

DomainStartEndE-ValueType
PDB:2KZ3|A 1 48 1e-13 PDB
SCOP:d1b22a_ 10 48 7e-5 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to the Rad51 gene family whose products play a major role in homologous recombination and DNA repair. The encoded protein interacts with other proteins of this family, including Rad51b, Rad51c and Xrcc2, and plays an essential role in both DNA repair and telomere maintenance. In humans, germline mutations in this gene may be associated with predisposition to ovarian cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos before E11.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik T C 2: 127,028,873 (GRCm39) T109A probably damaging Het
A430005L14Rik GCC G 4: 154,045,410 (GRCm39) probably null Het
Actr1a T C 19: 46,384,103 (GRCm39) D5G possibly damaging Het
Adra2c A G 5: 35,438,217 (GRCm39) T330A probably benign Het
Ahcyl2 C T 6: 29,859,697 (GRCm39) probably benign Het
Ahnak T C 19: 8,984,539 (GRCm39) V1941A probably damaging Het
Akr1b7 G A 6: 34,389,411 (GRCm39) probably null Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ank2 A G 3: 126,746,875 (GRCm39) V570A probably damaging Het
Ano4 T C 10: 88,948,702 (GRCm39) E302G probably damaging Het
Bop1 A T 15: 76,339,489 (GRCm39) H285Q probably damaging Het
Btbd19 G A 4: 116,980,957 (GRCm39) A104V probably damaging Het
Catsperb A T 12: 101,560,543 (GRCm39) I845L possibly damaging Het
Ccdc28b G T 4: 129,513,238 (GRCm39) Q184K probably damaging Het
Cd101 A G 3: 100,926,126 (GRCm39) S198P probably damaging Het
Cdc7 A T 5: 107,117,163 (GRCm39) probably null Het
Cdhr2 A G 13: 54,884,269 (GRCm39) D1268G probably benign Het
Celsr3 C T 9: 108,705,781 (GRCm39) R755W probably damaging Het
Chrnb1 T A 11: 69,684,979 (GRCm39) N117I probably damaging Het
Chst11 C A 10: 83,027,083 (GRCm39) P170Q probably damaging Het
Clca3b A G 3: 144,552,932 (GRCm39) Y98H probably damaging Het
Crnkl1 A G 2: 145,770,132 (GRCm39) V237A possibly damaging Het
Ctnnbl1 G A 2: 157,659,752 (GRCm39) probably null Het
Dbndd1 C A 8: 124,236,582 (GRCm39) R95S probably damaging Het
Ddx3y A G Y: 1,265,965 (GRCm39) V344A probably damaging Het
Defb30 A T 14: 63,273,559 (GRCm39) probably null Het
Dennd10 T C 19: 60,823,274 (GRCm39) L303P probably benign Het
Dnah17 C T 11: 118,018,108 (GRCm39) R129Q probably benign Het
Dnhd1 A T 7: 105,362,891 (GRCm39) M3818L probably benign Het
Dusp4 G T 8: 35,284,458 (GRCm39) D258Y probably damaging Het
E2f1 A T 2: 154,406,368 (GRCm39) F103I probably benign Het
Elavl2 T C 4: 91,149,055 (GRCm39) Y248C probably damaging Het
Ephb3 T C 16: 21,037,855 (GRCm39) V310A possibly damaging Het
Erbin A G 13: 103,993,917 (GRCm39) probably null Het
Etv4 A T 11: 101,666,167 (GRCm39) H120Q probably damaging Het
Fcgbpl1 T C 7: 27,839,608 (GRCm39) F474L probably benign Het
Flot2 T A 11: 77,940,314 (GRCm39) C20* probably null Het
Fsip2 G A 2: 82,821,262 (GRCm39) G5665D probably benign Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Glrp1 TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG 1: 88,431,066 (GRCm39) probably benign Het
Gm43302 A T 5: 105,427,955 (GRCm39) L202* probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hnf1b A T 11: 83,746,863 (GRCm39) M160L probably damaging Het
Inhbe T C 10: 127,186,470 (GRCm39) T237A possibly damaging Het
Kdm5b G A 1: 134,549,836 (GRCm39) probably null Het
Kmt2c A T 5: 25,499,732 (GRCm39) probably null Het
Kyat3 A G 3: 142,440,367 (GRCm39) K364E probably benign Het
Lars1 T A 18: 42,350,024 (GRCm39) T927S probably benign Het
Mfap1b A T 2: 121,304,371 (GRCm39) M8K probably benign Het
Mroh8 G A 2: 157,070,576 (GRCm39) P592S possibly damaging Het
Myo3b A T 2: 69,957,329 (GRCm39) I185L probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or1x6 C T 11: 50,939,297 (GRCm39) A121V probably damaging Het
Or4c110 A T 2: 88,832,540 (GRCm39) L31M probably benign Het
Or51a24 T C 7: 103,734,098 (GRCm39) Y63C probably benign Het
Pcdha8 T A 18: 37,126,787 (GRCm39) V423E probably damaging Het
Pcdhb21 G T 18: 37,648,772 (GRCm39) V634L probably benign Het
Pde8a T C 7: 80,983,170 (GRCm39) V791A probably damaging Het
Pds5a A G 5: 65,795,920 (GRCm39) S657P probably benign Het
Pes1 CGGAGGAGGAGGAGGAGGAGGAGG CGGAGGAGGAGGAGGAGGAGG 11: 3,927,719 (GRCm39) probably benign Het
Sdc1 A T 12: 8,841,743 (GRCm39) probably null Het
Sdcbp2 T A 2: 151,429,057 (GRCm39) I152N probably damaging Het
Slc4a4 G T 5: 89,194,076 (GRCm39) M141I probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Spata6 T C 4: 111,656,315 (GRCm39) C320R probably damaging Het
Spata6l T C 19: 28,905,089 (GRCm39) H325R possibly damaging Het
Ssu2 T A 6: 112,357,957 (GRCm39) T129S probably damaging Het
Stat5a T A 11: 100,771,409 (GRCm39) W631R probably damaging Het
Sult1c2 T A 17: 54,143,939 (GRCm39) N122I possibly damaging Het
Synpo2 G A 3: 122,911,331 (GRCm39) Q105* probably null Het
Tert G A 13: 73,787,362 (GRCm39) V783I probably damaging Het
Ticam1 G T 17: 56,578,117 (GRCm39) T326K probably benign Het
Tmem63b T C 17: 45,980,888 (GRCm39) M269V possibly damaging Het
Tmem86a T A 7: 46,702,794 (GRCm39) V73E possibly damaging Het
Trpv4 G A 5: 114,761,675 (GRCm39) R818C possibly damaging Het
Tstd2 A G 4: 46,135,542 (GRCm39) S4P probably benign Het
Ttn A T 2: 76,644,715 (GRCm39) V4686E probably damaging Het
Ubash3b A G 9: 40,954,769 (GRCm39) probably null Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Usp33 A G 3: 152,089,824 (GRCm39) E780G possibly damaging Het
Vapb T A 2: 173,613,336 (GRCm39) Y78* probably null Het
Vps13b G A 15: 35,887,094 (GRCm39) R3227Q probably damaging Het
Vps33a A T 5: 123,696,693 (GRCm39) I320N probably damaging Het
Wnt5a T C 14: 28,244,727 (GRCm39) C305R probably damaging Het
Zbtb38 A G 9: 96,569,696 (GRCm39) C463R probably damaging Het
Zc3h12d G A 10: 7,742,090 (GRCm39) C263Y probably damaging Het
Zfp971 G A 2: 177,675,526 (GRCm39) R375Q probably damaging Het
Znrf1 T A 8: 112,345,826 (GRCm39) probably null Het
Other mutations in Rad51d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Rad51d APN 11 82,780,572 (GRCm39) missense probably damaging 1.00
IGL02755:Rad51d APN 11 82,772,458 (GRCm39) missense probably benign 0.05
IGL03270:Rad51d APN 11 82,772,420 (GRCm39) splice site probably benign
spew UTSW 11 82,770,159 (GRCm39) missense probably damaging 0.99
R0179:Rad51d UTSW 11 82,780,824 (GRCm39) missense possibly damaging 0.90
R1440:Rad51d UTSW 11 82,781,179 (GRCm39) nonsense probably null
R1771:Rad51d UTSW 11 82,774,764 (GRCm39) missense probably damaging 1.00
R2106:Rad51d UTSW 11 82,770,134 (GRCm39) missense probably damaging 1.00
R2340:Rad51d UTSW 11 82,772,647 (GRCm39) missense probably damaging 1.00
R6917:Rad51d UTSW 11 82,770,159 (GRCm39) missense probably damaging 0.99
R6941:Rad51d UTSW 11 82,780,623 (GRCm39) missense probably damaging 0.99
R8063:Rad51d UTSW 11 82,780,597 (GRCm39) missense probably benign 0.04
R8910:Rad51d UTSW 11 82,773,793 (GRCm39) missense probably damaging 0.97
R8923:Rad51d UTSW 11 82,773,798 (GRCm39) missense probably damaging 1.00
R9723:Rad51d UTSW 11 82,781,162 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GTAAAATCCTCTGCCTCGGC -3'
(R):5'- CCTAGAGTCTTGCGAGTTGG -3'

Sequencing Primer
(F):5'- CTCCTGCGAACCCAGCTTC -3'
(R):5'- CTAGAGTCTTGCGAGTTGGGAAGG -3'
Posted On 2016-09-06