Incidental Mutation 'R4282:Rad51ap2'
ID 322959
Institutional Source Beutler Lab
Gene Symbol Rad51ap2
Ensembl Gene ENSMUSG00000086022
Gene Name RAD51 associated protein 2
Synonyms
MMRRC Submission 041650-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4282 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 11506080-11512929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11506465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 129 (V129D)
Ref Sequence ENSEMBL: ENSMUSP00000128854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124065]
AlphaFold G3UW63
Predicted Effect probably benign
Transcript: ENSMUST00000124065
AA Change: V129D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: V129D

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
low complexity region 428 438 N/A INTRINSIC
low complexity region 702 713 N/A INTRINSIC
Pfam:RAD51_interact 937 975 1.3e-20 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (59/61)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700092K14Rik A C 11: 114,089,970 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,518,034 (GRCm39) D758E possibly damaging Het
Adam28 A G 14: 68,885,155 (GRCm39) V65A possibly damaging Het
Adgra2 T A 8: 27,609,272 (GRCm39) M616K possibly damaging Het
Aldh3b2 A G 19: 4,027,636 (GRCm39) D59G probably benign Het
Ankrd28 A G 14: 31,467,182 (GRCm39) V260A possibly damaging Het
Bbs7 A G 3: 36,627,720 (GRCm39) V689A probably damaging Het
Cacna1e A G 1: 154,302,296 (GRCm39) F1653S probably benign Het
Cd55b T C 1: 130,344,596 (GRCm39) D213G probably damaging Het
Colgalt2 G A 1: 152,344,282 (GRCm39) V115M probably damaging Het
Ddx60 T C 8: 62,447,427 (GRCm39) V1138A probably damaging Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Dus2 C T 8: 106,775,286 (GRCm39) A271V probably benign Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fancg T C 4: 43,003,830 (GRCm39) D533G probably damaging Het
Frem3 T C 8: 81,340,770 (GRCm39) V1021A probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hspb6 T C 7: 30,252,889 (GRCm39) S44P possibly damaging Het
Jsrp1 T C 10: 80,646,190 (GRCm39) I50V probably benign Het
Kansl1 T C 11: 104,269,515 (GRCm39) N476S probably benign Het
Kcnq2 T C 2: 180,722,946 (GRCm39) D810G probably damaging Het
Magea14 T C X: 51,057,867 (GRCm39) Y273C probably damaging Het
Maml2 C A 9: 13,531,406 (GRCm39) L207I possibly damaging Het
Myo3a A T 2: 22,345,089 (GRCm39) E508D probably benign Het
Nav1 T A 1: 135,385,651 (GRCm39) probably benign Het
Ndrg3 A T 2: 156,790,214 (GRCm39) C90S possibly damaging Het
Orc1 A G 4: 108,463,471 (GRCm39) S663G probably benign Het
Pcdhb14 T A 18: 37,583,195 (GRCm39) L767H probably damaging Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Por C A 5: 135,744,815 (GRCm39) T26K possibly damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Qsox1 T A 1: 155,662,671 (GRCm39) probably null Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Rxfp2 T G 5: 149,993,735 (GRCm39) V585G possibly damaging Het
Sftpd G A 14: 40,894,537 (GRCm39) T294I probably benign Het
Sh3gl1 A G 17: 56,343,456 (GRCm39) S2P probably damaging Het
Slc38a10 A T 11: 120,020,090 (GRCm39) F321I probably damaging Het
Slc4a10 T A 2: 62,074,687 (GRCm39) probably null Het
Slco6b1 A G 1: 96,925,115 (GRCm39) noncoding transcript Het
Slit1 T C 19: 41,602,856 (GRCm39) E985G probably benign Het
Smurf1 C T 5: 144,819,403 (GRCm39) E575K probably damaging Het
Sned1 A T 1: 93,213,577 (GRCm39) R426* probably null Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tmem182 T C 1: 40,877,530 (GRCm39) I135T probably damaging Het
Tmem67 T C 4: 12,073,922 (GRCm39) Y298C probably damaging Het
Trappc9 A G 15: 72,462,641 (GRCm39) C1026R probably damaging Het
Troap A G 15: 98,976,713 (GRCm39) D279G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r23 T C 6: 57,903,452 (GRCm39) T109A probably benign Het
Vmn2r25 A T 6: 123,800,606 (GRCm39) C579S probably damaging Het
Zbtb18 A G 1: 177,275,045 (GRCm39) D126G probably damaging Het
Other mutations in Rad51ap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01879:Rad51ap2 APN 12 11,508,139 (GRCm39) missense probably benign 0.10
IGL01908:Rad51ap2 APN 12 11,508,592 (GRCm39) missense probably damaging 1.00
IGL02415:Rad51ap2 APN 12 11,506,930 (GRCm39) missense possibly damaging 0.91
IGL02731:Rad51ap2 APN 12 11,506,897 (GRCm39) missense probably damaging 0.99
IGL03407:Rad51ap2 APN 12 11,507,198 (GRCm39) missense possibly damaging 0.96
R0190:Rad51ap2 UTSW 12 11,508,540 (GRCm39) missense probably benign 0.01
R0281:Rad51ap2 UTSW 12 11,507,043 (GRCm39) missense possibly damaging 0.93
R0564:Rad51ap2 UTSW 12 11,507,897 (GRCm39) missense probably benign 0.20
R0674:Rad51ap2 UTSW 12 11,508,818 (GRCm39) critical splice donor site probably null
R0699:Rad51ap2 UTSW 12 11,507,601 (GRCm39) missense probably benign 0.03
R1033:Rad51ap2 UTSW 12 11,506,252 (GRCm39) missense probably damaging 0.98
R1255:Rad51ap2 UTSW 12 11,508,095 (GRCm39) missense possibly damaging 0.54
R1572:Rad51ap2 UTSW 12 11,507,113 (GRCm39) missense probably damaging 0.99
R1746:Rad51ap2 UTSW 12 11,507,776 (GRCm39) missense probably benign
R1882:Rad51ap2 UTSW 12 11,506,251 (GRCm39) missense possibly damaging 0.85
R2038:Rad51ap2 UTSW 12 11,507,025 (GRCm39) missense possibly damaging 0.73
R2151:Rad51ap2 UTSW 12 11,507,986 (GRCm39) missense probably benign 0.02
R2152:Rad51ap2 UTSW 12 11,507,986 (GRCm39) missense probably benign 0.02
R2154:Rad51ap2 UTSW 12 11,507,986 (GRCm39) missense probably benign 0.02
R2159:Rad51ap2 UTSW 12 11,507,752 (GRCm39) missense possibly damaging 0.87
R2321:Rad51ap2 UTSW 12 11,507,058 (GRCm39) missense probably damaging 1.00
R2355:Rad51ap2 UTSW 12 11,507,109 (GRCm39) missense probably benign
R2393:Rad51ap2 UTSW 12 11,507,798 (GRCm39) missense probably damaging 0.98
R2407:Rad51ap2 UTSW 12 11,508,502 (GRCm39) missense probably damaging 0.99
R2518:Rad51ap2 UTSW 12 11,507,068 (GRCm39) missense probably damaging 0.99
R2929:Rad51ap2 UTSW 12 11,507,185 (GRCm39) missense probably benign 0.07
R3085:Rad51ap2 UTSW 12 11,506,758 (GRCm39) missense possibly damaging 0.53
R4009:Rad51ap2 UTSW 12 11,507,052 (GRCm39) missense probably benign 0.33
R4108:Rad51ap2 UTSW 12 11,508,396 (GRCm39) missense probably damaging 1.00
R4536:Rad51ap2 UTSW 12 11,507,850 (GRCm39) missense possibly damaging 0.90
R4594:Rad51ap2 UTSW 12 11,507,881 (GRCm39) missense probably benign 0.01
R4678:Rad51ap2 UTSW 12 11,506,552 (GRCm39) missense probably damaging 0.96
R4679:Rad51ap2 UTSW 12 11,506,552 (GRCm39) missense probably damaging 0.96
R4810:Rad51ap2 UTSW 12 11,507,406 (GRCm39) missense probably damaging 1.00
R5151:Rad51ap2 UTSW 12 11,507,516 (GRCm39) missense probably benign 0.09
R5421:Rad51ap2 UTSW 12 11,509,368 (GRCm39) nonsense probably null
R5517:Rad51ap2 UTSW 12 11,508,313 (GRCm39) missense probably benign 0.19
R5786:Rad51ap2 UTSW 12 11,506,921 (GRCm39) missense probably damaging 1.00
R5884:Rad51ap2 UTSW 12 11,507,534 (GRCm39) small deletion probably benign
R5932:Rad51ap2 UTSW 12 11,508,387 (GRCm39) missense probably damaging 1.00
R6022:Rad51ap2 UTSW 12 11,508,523 (GRCm39) missense probably damaging 1.00
R6064:Rad51ap2 UTSW 12 11,507,418 (GRCm39) missense possibly damaging 0.80
R6112:Rad51ap2 UTSW 12 11,507,290 (GRCm39) missense probably benign 0.01
R6235:Rad51ap2 UTSW 12 11,507,517 (GRCm39) missense possibly damaging 0.70
R6282:Rad51ap2 UTSW 12 11,507,560 (GRCm39) missense probably benign 0.12
R6488:Rad51ap2 UTSW 12 11,508,161 (GRCm39) missense possibly damaging 0.56
R6668:Rad51ap2 UTSW 12 11,507,647 (GRCm39) missense probably benign 0.17
R6759:Rad51ap2 UTSW 12 11,507,145 (GRCm39) missense possibly damaging 0.91
R7030:Rad51ap2 UTSW 12 11,507,432 (GRCm39) missense possibly damaging 0.93
R7080:Rad51ap2 UTSW 12 11,506,366 (GRCm39) missense probably benign
R7105:Rad51ap2 UTSW 12 11,508,278 (GRCm39) missense possibly damaging 0.84
R7269:Rad51ap2 UTSW 12 11,506,807 (GRCm39) missense possibly damaging 0.67
R7286:Rad51ap2 UTSW 12 11,507,692 (GRCm39) missense probably benign 0.19
R7305:Rad51ap2 UTSW 12 11,507,344 (GRCm39) missense possibly damaging 0.68
R7451:Rad51ap2 UTSW 12 11,507,982 (GRCm39) missense probably benign 0.05
R7632:Rad51ap2 UTSW 12 11,507,116 (GRCm39) missense possibly damaging 0.85
R7833:Rad51ap2 UTSW 12 11,506,656 (GRCm39) missense probably benign
R7839:Rad51ap2 UTSW 12 11,507,238 (GRCm39) missense possibly damaging 0.83
R7953:Rad51ap2 UTSW 12 11,512,593 (GRCm39) nonsense probably null
R8040:Rad51ap2 UTSW 12 11,508,792 (GRCm39) missense probably benign 0.03
R8879:Rad51ap2 UTSW 12 11,507,401 (GRCm39) missense possibly damaging 0.55
R8963:Rad51ap2 UTSW 12 11,506,255 (GRCm39) missense possibly damaging 0.91
R9010:Rad51ap2 UTSW 12 11,508,675 (GRCm39) missense probably benign 0.01
R9328:Rad51ap2 UTSW 12 11,507,772 (GRCm39) missense probably benign 0.03
R9691:Rad51ap2 UTSW 12 11,509,413 (GRCm39) missense possibly damaging 0.70
R9712:Rad51ap2 UTSW 12 11,507,593 (GRCm39) missense possibly damaging 0.95
RF023:Rad51ap2 UTSW 12 11,508,076 (GRCm39) missense possibly damaging 0.94
X0026:Rad51ap2 UTSW 12 11,508,097 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- AAAAGTCTGGGAGTGGTCGC -3'
(R):5'- CATGTAATGCTGACTTAGTTTCCTC -3'

Sequencing Primer
(F):5'- GTCGCTCAGACCCTTCACAG -3'
(R):5'- GCTGACTTAGTTTCCTCAGAAAATGG -3'
Posted On 2015-06-20