Incidental Mutation 'R7105:Rad51ap2'
ID 551128
Institutional Source Beutler Lab
Gene Symbol Rad51ap2
Ensembl Gene ENSMUSG00000086022
Gene Name RAD51 associated protein 2
Synonyms
MMRRC Submission 045197-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7105 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 11506080-11512929 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 11508278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 733 (D733E)
Ref Sequence ENSEMBL: ENSMUSP00000128854 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124065]
AlphaFold G3UW63
Predicted Effect possibly damaging
Transcript: ENSMUST00000124065
AA Change: D733E

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128854
Gene: ENSMUSG00000086022
AA Change: D733E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (65/68)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,347,842 (GRCm39) I3565N probably damaging Het
Adam8 T C 7: 139,569,968 (GRCm39) E99G probably benign Het
Adnp2 A C 18: 80,171,366 (GRCm39) H1014Q possibly damaging Het
Agbl4 T A 4: 111,423,920 (GRCm39) N315K probably benign Het
Ankrd33b G T 15: 31,305,214 (GRCm39) N183K probably damaging Het
Arhgef39 A G 4: 43,498,913 (GRCm39) S113P possibly damaging Het
Bdp1 G A 13: 100,206,689 (GRCm39) P618S probably damaging Het
Bhlhe40 C T 6: 108,641,997 (GRCm39) P314S possibly damaging Het
Birc2 A C 9: 7,819,442 (GRCm39) I490S probably damaging Het
Blm T C 7: 80,149,516 (GRCm39) I698V probably benign Het
C4b G A 17: 34,949,885 (GRCm39) T1433M possibly damaging Het
Car12 A G 9: 66,659,688 (GRCm39) T238A probably damaging Het
Cend1 G A 7: 141,007,565 (GRCm39) P85L probably benign Het
Cftr A T 6: 18,318,971 (GRCm39) D1337V probably damaging Het
Chsy3 T A 18: 59,309,491 (GRCm39) M248K probably damaging Het
Chtf8 A G 8: 107,611,883 (GRCm39) F352S probably damaging Het
Cimip4 T A 15: 78,270,318 (GRCm39) D150V possibly damaging Het
Csf2ra T C 19: 61,213,458 (GRCm39) D384G possibly damaging Het
Ctnnbip1 T C 4: 149,630,937 (GRCm39) S59P probably benign Het
Cyth3 A G 5: 143,693,027 (GRCm39) N312D probably benign Het
Dtnb T C 12: 3,698,391 (GRCm39) probably null Het
Duox2 A G 2: 122,120,033 (GRCm39) S826P possibly damaging Het
Enthd1 C T 15: 80,393,410 (GRCm39) A273T probably benign Het
Gm3138 T C 14: 15,632,304 (GRCm39) V159A possibly damaging Het
Hhip T C 8: 80,701,638 (GRCm39) D632G probably benign Het
Igfn1 A T 1: 135,911,956 (GRCm39) C114S probably benign Het
Islr2 T C 9: 58,105,097 (GRCm39) D765G probably damaging Het
Klf14 TCCCC TCCC 6: 30,935,476 (GRCm39) probably null Het
Mapk12 G A 15: 89,015,361 (GRCm39) P362L probably benign Het
Msi1 T G 5: 115,571,929 (GRCm39) F96V probably damaging Het
Mthfd1l T C 10: 4,053,261 (GRCm39) V870A probably benign Het
Nfat5 T C 8: 108,095,823 (GRCm39) S1355P possibly damaging Het
Oplah T C 15: 76,181,887 (GRCm39) N1079D probably damaging Het
Or2ah1 G T 2: 85,654,224 (GRCm39) R303M probably benign Het
Osbpl1a T A 18: 12,900,020 (GRCm39) I645F probably benign Het
Pank4 T C 4: 155,064,624 (GRCm39) S728P probably benign Het
Parp2 TTGCCATAAGTGCTAAATGAAGCC T 14: 51,047,521 (GRCm39) probably null Het
Piezo1 A G 8: 123,208,857 (GRCm39) I2503T unknown Het
Plekhg6 A G 6: 125,355,768 (GRCm39) L12P probably damaging Het
Plekhs1 T A 19: 56,465,647 (GRCm39) F204Y probably damaging Het
Pramel26 T C 4: 143,537,341 (GRCm39) N330S probably benign Het
Pramel32 G A 4: 88,548,339 (GRCm39) S22F probably damaging Het
Prep T A 10: 45,002,159 (GRCm39) I438N probably benign Het
Prss58 T C 6: 40,874,700 (GRCm39) H47R probably damaging Het
Robo1 A T 16: 72,539,049 (GRCm39) I31F probably damaging Het
Setd2 A G 9: 110,377,328 (GRCm39) Y381C probably damaging Het
Slc47a2 A G 11: 61,233,269 (GRCm39) V87A probably benign Het
Slc5a9 T C 4: 111,755,892 (GRCm39) N2S probably benign Het
Spata13 A G 14: 60,991,319 (GRCm39) D1024G probably damaging Het
Stat1 T G 1: 52,190,408 (GRCm39) N554K probably benign Het
Suclg2 T C 6: 95,572,635 (GRCm39) D110G possibly damaging Het
Sult1c2 T A 17: 54,280,917 (GRCm39) probably null Het
Taf5l A G 8: 124,729,951 (GRCm39) I246T probably damaging Het
Tcof1 A T 18: 60,976,368 (GRCm39) D80E probably damaging Het
Tmem233 T C 5: 116,221,057 (GRCm39) Y63C probably damaging Het
Tshz3 A G 7: 36,469,181 (GRCm39) E390G probably damaging Het
Ttn T C 2: 76,560,610 (GRCm39) T29264A possibly damaging Het
Ubr5 T C 15: 38,009,019 (GRCm39) T1065A Het
Vcp A G 4: 42,985,991 (GRCm39) V341A probably damaging Het
Vmn1r176 A T 7: 23,534,748 (GRCm39) L135* probably null Het
Vmn1r57 T A 7: 5,223,499 (GRCm39) I8N probably damaging Het
Ythdc2 C T 18: 44,967,630 (GRCm39) P209S probably damaging Het
Zfp213 A T 17: 23,777,178 (GRCm39) V288D probably benign Het
Zfp362 T C 4: 128,668,319 (GRCm39) I418V probably damaging Het
Zfp707 C A 15: 75,846,595 (GRCm39) T215K Het
Zfp957 G C 14: 79,450,402 (GRCm39) R466G probably benign 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
R4282:Rad51ap2 UTSW 12 11,506,465 (GRCm39) missense probably benign 0.01
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
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'- ACTCTGAAGATCAGCTTGGAG -3'
(R):5'- TGTCATCCTGGTACTTGGAATTTC -3'

Sequencing Primer
(F):5'- CTCTGAAGATCAGCTTGGAGAATCTG -3'
(R):5'- CATGAAACATTCGAAGTTCTTCAAG -3'
Posted On 2019-05-15