Incidental Mutation 'P0028:Rtp1'
ID15783
Institutional Source Beutler Lab
Gene Symbol Rtp1
Ensembl Gene ENSMUSG00000033383
Gene Namereceptor transporter protein 1
SynonymsLOC239766, LOC385871
MMRRC Submission 038281-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #P0028 (G1)
Quality Score
Status Validated
Chromosome16
Chromosomal Location23429133-23433960 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to C at 23429366 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Serine at position 63 (W63S)
Ref Sequence ENSEMBL: ENSMUSP00000043416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038730]
Predicted Effect probably damaging
Transcript: ENSMUST00000038730
AA Change: W63S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043416
Gene: ENSMUSG00000033383
AA Change: W63S

DomainStartEndE-ValueType
zf-3CxxC 87 197 3.5e-39 SMART
transmembrane domain 235 257 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158237
Meta Mutation Damage Score 0.6371 question?
Coding Region Coverage
  • 1x: 85.4%
  • 3x: 79.0%
  • 10x: 59.9%
  • 20x: 38.6%
Validation Efficiency 78% (43/55)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit infertility and abnormal olfactory bulb development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap17 G A 7: 123,286,677 probably benign Het
Arhgef10 C T 8: 14,928,925 T64M possibly damaging Het
Cc2d2a A G 5: 43,684,199 R186G probably benign Het
Celsr1 G A 15: 85,922,235 R974W probably damaging Het
Cutc A G 19: 43,764,969 R184G possibly damaging Het
Ddx24 T C 12: 103,408,375 N850S probably benign Het
Dock1 T G 7: 134,999,324 probably benign Het
Dusp12 A T 1: 170,879,817 L234* probably null Het
Fam171b T A 2: 83,853,439 V100E probably damaging Het
Mical3 A T 6: 121,024,689 M614K probably benign Het
Myh6 C T 14: 54,963,637 V123I probably benign Het
Nbeal1 A G 1: 60,291,937 Y2235C probably damaging Het
Prickle1 A G 15: 93,500,902 S682P probably damaging Het
Raf1 G A 6: 115,631,205 probably benign Het
Rb1 C A 14: 73,264,628 R439L probably damaging Het
Rcsd1 G A 1: 165,655,997 R142W probably damaging Het
Setd2 A G 9: 110,573,954 T1888A probably benign Het
Srp68 C A 11: 116,260,920 Q283H probably damaging Het
Unc13b T A 4: 43,256,225 C3927S probably damaging Het
Zfp831 A G 2: 174,645,346 K605E possibly damaging Het
Other mutations in Rtp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02276:Rtp1 APN 16 23431313 missense probably benign 0.07
IGL02329:Rtp1 APN 16 23431193 missense probably damaging 1.00
IGL02432:Rtp1 APN 16 23431404 missense probably damaging 1.00
IGL02690:Rtp1 APN 16 23431382 missense probably damaging 1.00
IGL03046:Rtp1 UTSW 16 23429294 missense probably benign 0.30
R0319:Rtp1 UTSW 16 23431460 missense probably damaging 1.00
R0377:Rtp1 UTSW 16 23431284 missense probably damaging 0.98
R0972:Rtp1 UTSW 16 23431308 missense probably damaging 0.99
R1498:Rtp1 UTSW 16 23431220 missense probably benign 0.00
R1751:Rtp1 UTSW 16 23431374 missense probably damaging 0.98
R1767:Rtp1 UTSW 16 23431374 missense probably damaging 0.98
R1900:Rtp1 UTSW 16 23429299 missense probably benign
R1921:Rtp1 UTSW 16 23431410 missense probably damaging 1.00
R1922:Rtp1 UTSW 16 23431410 missense probably damaging 1.00
R1927:Rtp1 UTSW 16 23431209 missense probably damaging 1.00
R2102:Rtp1 UTSW 16 23431358 missense probably benign 0.04
R5118:Rtp1 UTSW 16 23431535 missense probably benign 0.00
R5484:Rtp1 UTSW 16 23429275 missense probably benign
R5614:Rtp1 UTSW 16 23431190 missense possibly damaging 0.71
Posted On2013-01-04