Incidental Mutation 'R1066:Reep3'
ID86012
Institutional Source Beutler Lab
Gene Symbol Reep3
Ensembl Gene ENSMUSG00000019873
Gene Namereceptor accessory protein 3
SynonymsD10Ucla1
MMRRC Submission 039152-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.143) question?
Stock #R1066 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location67009189-67096945 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 67034666 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 117 (T117K)
Ref Sequence ENSEMBL: ENSMUSP00000020023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020023] [ENSMUST00000217841]
Predicted Effect probably damaging
Transcript: ENSMUST00000020023
AA Change: T117K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020023
Gene: ENSMUSG00000019873
AA Change: T117K

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: ENSMUST00000217788
Predicted Effect possibly damaging
Transcript: ENSMUST00000217841
AA Change: T117K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218205
Predicted Effect probably benign
Transcript: ENSMUST00000218920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219431
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219739
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 T A 9: 30,956,541 C554S probably damaging Het
Adarb2 T G 13: 8,757,323 F720C probably benign Het
Arid5b T C 10: 68,098,356 D572G probably benign Het
BB014433 C T 8: 15,042,185 V223M probably damaging Het
Boc T C 16: 44,490,684 probably null Het
Brf2 T C 8: 27,123,946 E404G probably benign Het
Ces3a T A 8: 105,055,656 H380Q probably benign Het
Chd9 T A 8: 90,986,136 Y389* probably null Het
Csmd3 A G 15: 47,913,965 F1182L probably damaging Het
Dnah2 C A 11: 69,447,819 W3169L probably damaging Het
Dnah3 T A 7: 120,061,009 E802D probably damaging Het
Dtx4 G T 19: 12,501,009 T70K probably damaging Het
Fat4 T C 3: 38,957,227 Y2159H probably damaging Het
Flrt2 T A 12: 95,779,059 V57E probably damaging Het
Gm11487 C A 4: 73,401,829 V238L possibly damaging Het
Gsdmc2 T A 15: 63,825,050 Y424F possibly damaging Het
Igfn1 T C 1: 135,970,725 E701G probably benign Het
Klhl42 T C 6: 147,107,899 V412A probably benign Het
Mkln1 A C 6: 31,418,987 N52T possibly damaging Het
Mpp6 A T 6: 50,145,867 N31I possibly damaging Het
Myo15b A T 11: 115,879,751 M1519L probably benign Het
Nup155 A T 15: 8,157,760 H1391L probably damaging Het
Olfr1467 T C 19: 13,365,087 M153T probably benign Het
P4ha3 G T 7: 100,318,063 V360L possibly damaging Het
Phf14 T A 6: 11,987,255 D611E possibly damaging Het
Pik3r1 T A 13: 101,688,663 R465S probably damaging Het
Reln G T 5: 22,034,664 N868K probably damaging Het
Sdcbp T G 4: 6,385,120 I113S probably damaging Het
Sema4c A T 1: 36,550,200 V615E possibly damaging Het
Slc25a18 A G 6: 120,788,288 probably null Het
Tedc2 T A 17: 24,216,317 E366V probably damaging Het
Tedc2 C A 17: 24,216,318 E366* probably null Het
Uba2 A T 7: 34,158,822 F70I probably damaging Het
Usp42 A T 5: 143,718,041 H422Q probably damaging Het
Vmn2r86 C T 10: 130,446,276 V824I probably benign Het
Vps50 A C 6: 3,533,565 T266P probably damaging Het
Znhit6 T A 3: 145,578,497 D141E probably damaging Het
Other mutations in Reep3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02755:Reep3 APN 10 67021877 missense possibly damaging 0.89
R0254:Reep3 UTSW 10 67021796 missense probably benign 0.31
R0685:Reep3 UTSW 10 67021739 splice site probably benign
R1386:Reep3 UTSW 10 67063009 missense possibly damaging 0.81
R1945:Reep3 UTSW 10 67035899 missense probably damaging 1.00
R1961:Reep3 UTSW 10 67039499 critical splice donor site probably null
R2382:Reep3 UTSW 10 67096790 missense possibly damaging 0.91
R4672:Reep3 UTSW 10 67021850 missense probably benign 0.01
R4943:Reep3 UTSW 10 67096263 intron probably benign
R6351:Reep3 UTSW 10 67034653 missense probably benign 0.08
R6414:Reep3 UTSW 10 67039577 missense probably damaging 1.00
Predicted Primers
Posted On2013-11-18