Incidental Mutation 'R2382:Reep3'
ID 247572
Institutional Source Beutler Lab
Gene Symbol Reep3
Ensembl Gene ENSMUSG00000019873
Gene Name receptor accessory protein 3
Synonyms D10Ucla1
MMRRC Submission 040357-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.261) question?
Stock # R2382 (G1)
Quality Score 82
Status Not validated
Chromosome 10
Chromosomal Location 66844968-66932724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66932569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 11 (V11E)
Ref Sequence ENSEMBL: ENSMUSP00000151994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020023] [ENSMUST00000174317] [ENSMUST00000217841]
AlphaFold Q99KK1
Predicted Effect probably benign
Transcript: ENSMUST00000020023
AA Change: V11E

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000020023
Gene: ENSMUSG00000019873
AA Change: V11E

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 7 95 2.1e-35 PFAM
low complexity region 129 138 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174062
Predicted Effect probably benign
Transcript: ENSMUST00000174317
SMART Domains Protein: ENSMUSP00000134246
Gene: ENSMUSG00000037876

DomainStartEndE-ValueType
Blast:JmjC 1 744 N/A BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000217841
AA Change: V11E

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aarsd1 T A 11: 101,304,904 (GRCm39) I64F probably damaging Het
Agrn T A 4: 156,260,973 (GRCm39) D574V probably damaging Het
Atg4b T C 1: 93,712,564 (GRCm39) C16R probably damaging Het
Ccdc141 A T 2: 76,841,886 (GRCm39) L1515Q probably damaging Het
Ccdc141 A T 2: 76,905,342 (GRCm39) V368E probably benign Het
Clk1 A T 1: 58,460,448 (GRCm39) S61T probably benign Het
Dhx38 A T 8: 110,282,772 (GRCm39) D631E probably damaging Het
Dner C G 1: 84,348,544 (GRCm39) E719Q probably damaging Het
E030025P04Rik G A 11: 109,034,880 (GRCm39) Q3* probably null Het
Eif4g2 T A 7: 110,674,253 (GRCm39) T613S probably benign Het
Fn1 C G 1: 71,687,278 (GRCm39) G193A probably damaging Het
Ftdc1 T C 16: 58,436,239 (GRCm39) probably null Het
Gls2 A G 10: 128,039,711 (GRCm39) E286G probably damaging Het
Gm21286 A G 4: 60,794,283 (GRCm39) noncoding transcript Het
Hoxa13 A T 6: 52,236,125 (GRCm39) V304D probably damaging Het
Hpse2 A T 19: 42,920,061 (GRCm39) M346K probably benign Het
Igkv1-99 A T 6: 68,519,481 (GRCm39) probably benign Het
Kcnq2 A G 2: 180,753,900 (GRCm39) Y237H probably damaging Het
Kmt2a T A 9: 44,732,207 (GRCm39) probably benign Het
Kntc1 A G 5: 123,898,411 (GRCm39) D180G probably damaging Het
Macf1 G A 4: 123,268,625 (GRCm39) T4682M probably damaging Het
Mfsd6 T A 1: 52,747,569 (GRCm39) H432L probably benign Het
Mgat5b T A 11: 116,810,322 (GRCm39) D7E probably damaging Het
Msh6 G A 17: 88,292,159 (GRCm39) V305I probably benign Het
Notch1 A T 2: 26,363,793 (GRCm39) H880Q probably benign Het
Or2g25 A C 17: 37,970,822 (GRCm39) V134G probably benign Het
Or7a37 G A 10: 78,805,990 (GRCm39) C169Y probably damaging Het
Or7a41 A T 10: 78,870,968 (GRCm39) I113F possibly damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Pnliprp2 A G 19: 58,757,062 (GRCm39) N308S probably benign Het
Ppwd1 T C 13: 104,343,621 (GRCm39) T595A probably damaging Het
Prdm13 T C 4: 21,678,277 (GRCm39) T738A possibly damaging Het
Rab11fip3 T A 17: 26,209,841 (GRCm39) K1062* probably null Het
Slco1a8 G A 6: 141,936,206 (GRCm39) S293F probably benign Het
Slco3a1 T C 7: 73,996,524 (GRCm39) D294G probably benign Het
Sycp2 A G 2: 178,019,811 (GRCm39) probably null Het
Zfp292 A G 4: 34,806,426 (GRCm39) V2206A possibly damaging Het
Other mutations in Reep3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02755:Reep3 APN 10 66,857,656 (GRCm39) missense possibly damaging 0.89
R0254:Reep3 UTSW 10 66,857,575 (GRCm39) missense probably benign 0.31
R0685:Reep3 UTSW 10 66,857,518 (GRCm39) splice site probably benign
R1066:Reep3 UTSW 10 66,870,445 (GRCm39) missense probably damaging 0.99
R1386:Reep3 UTSW 10 66,898,788 (GRCm39) missense possibly damaging 0.81
R1945:Reep3 UTSW 10 66,871,678 (GRCm39) missense probably damaging 1.00
R1961:Reep3 UTSW 10 66,875,278 (GRCm39) critical splice donor site probably null
R4672:Reep3 UTSW 10 66,857,629 (GRCm39) missense probably benign 0.01
R4943:Reep3 UTSW 10 66,932,042 (GRCm39) intron probably benign
R6351:Reep3 UTSW 10 66,870,432 (GRCm39) missense probably benign 0.08
R6414:Reep3 UTSW 10 66,875,356 (GRCm39) missense probably damaging 1.00
R8988:Reep3 UTSW 10 66,871,786 (GRCm39) critical splice acceptor site probably null
R9545:Reep3 UTSW 10 66,850,703 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- CAAAGGCTCGGGCGCATC -3'
(R):5'- GACACTTCACAATCCCGGCT -3'

Sequencing Primer
(F):5'- AGAAGCCGAGCAGAGCCC -3'
(R):5'- GAGCCGCCGCCTATCAG -3'
Posted On 2014-11-11