Incidental Mutation 'IGL02221:Reep5'
ID285160
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Reep5
Ensembl Gene ENSMUSG00000005873
Gene Namereceptor accessory protein 5
SynonymsTB2/DP1, Dp1, DP1/TB2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02221
Quality Score
Status
Chromosome18
Chromosomal Location34344889-34373415 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34349797 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 120 (F120L)
Ref Sequence ENSEMBL: ENSMUSP00000006027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006027]
Predicted Effect probably damaging
Transcript: ENSMUST00000006027
AA Change: F120L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006027
Gene: ENSMUSG00000005873
AA Change: F120L

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 55 144 1.6e-35 PFAM
low complexity region 152 169 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap insertion exhibit no detectable mutant phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,356,948 I24M probably benign Het
Ano5 G A 7: 51,570,323 D390N probably damaging Het
Atp2c2 A G 8: 119,744,334 Y407C probably damaging Het
B430306N03Rik T C 17: 48,324,195 probably benign Het
BC052040 T C 2: 115,639,066 probably null Het
Cd44 A T 2: 102,846,513 M269K probably benign Het
Cpped1 G T 16: 11,828,528 P144Q probably damaging Het
Epas1 C T 17: 86,827,847 T636M possibly damaging Het
Hsd17b3 G T 13: 64,089,051 H26Q probably benign Het
Ighv8-9 A G 12: 115,468,327 probably benign Het
Itih1 A T 14: 30,929,587 C883S probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lcn3 A T 2: 25,766,160 M76L probably benign Het
Lin9 A T 1: 180,650,834 M53L probably benign Het
Mast1 A G 8: 84,918,755 V687A possibly damaging Het
Mmd2 C T 5: 142,569,457 probably benign Het
Mroh2b T C 15: 4,923,641 L619S probably damaging Het
Ngef T C 1: 87,540,696 T114A probably benign Het
Nlrp12 T C 7: 3,240,967 D305G possibly damaging Het
Nlrp1a A T 11: 71,123,118 F435L possibly damaging Het
Nup188 A G 2: 30,330,641 I909V possibly damaging Het
Osbpl3 A C 6: 50,327,367 probably benign Het
P2ry2 G T 7: 100,998,114 P328H possibly damaging Het
Prex2 A T 1: 11,061,345 N46I probably benign Het
Prss42 T C 9: 110,803,175 F325L possibly damaging Het
Scg3 G T 9: 75,683,657 F23L probably damaging Het
Scx A G 15: 76,459,095 D200G probably benign Het
Setd5 C T 6: 113,121,170 probably benign Het
Tcf4 T A 18: 69,347,367 S23R probably damaging Het
Ttc4 A G 4: 106,676,596 probably null Het
Tyro3 T A 2: 119,812,590 C627S probably benign Het
Yipf2 T C 9: 21,591,468 N106S possibly damaging Het
Zfp619 T C 7: 39,536,910 L788P probably benign Het
Zfp831 G A 2: 174,643,726 V65I probably benign Het
Zgpat T C 2: 181,378,858 S275P probably benign Het
Other mutations in Reep5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00688:Reep5 APN 18 34349693 missense probably benign
IGL02070:Reep5 APN 18 34372473 nonsense probably null
IGL02820:Reep5 APN 18 34373259 missense probably benign 0.00
R1646:Reep5 UTSW 18 34349659 missense probably benign 0.02
R3755:Reep5 UTSW 18 34372474 missense probably damaging 1.00
R4978:Reep5 UTSW 18 34373296 missense probably damaging 1.00
R5209:Reep5 UTSW 18 34357240 splice site probably null
R6086:Reep5 UTSW 18 34357131 missense probably damaging 1.00
R6141:Reep5 UTSW 18 34372458 nonsense probably null
R7079:Reep5 UTSW 18 34347123 missense probably damaging 0.98
R7635:Reep5 UTSW 18 34349800 missense possibly damaging 0.83
R7857:Reep5 UTSW 18 34372468 missense possibly damaging 0.90
R7940:Reep5 UTSW 18 34372468 missense possibly damaging 0.90
X0058:Reep5 UTSW 18 34372403 critical splice donor site probably null
Posted On2015-04-16