Incidental Mutation 'IGL02690:Rtp1'
ID303711
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtp1
Ensembl Gene ENSMUSG00000033383
Gene Namereceptor transporter protein 1
SynonymsLOC239766, LOC385871
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL02690
Quality Score
Status
Chromosome16
Chromosomal Location23429133-23433960 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 23431382 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 166 (Y166H)
Ref Sequence ENSEMBL: ENSMUSP00000043416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038730]
Predicted Effect probably damaging
Transcript: ENSMUST00000038730
AA Change: Y166H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043416
Gene: ENSMUSG00000033383
AA Change: Y166H

DomainStartEndE-ValueType
zf-3CxxC 87 197 3.5e-39 SMART
transmembrane domain 235 257 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T C 17: 57,480,921 V896A probably damaging Het
Ahnak C A 19: 9,012,584 S3744* probably null Het
Aldh7a1 A G 18: 56,528,355 probably benign Het
Ankk1 T A 9: 49,421,900 I95F probably damaging Het
Borcs8 C A 8: 70,165,088 A32D probably damaging Het
Cdh1 T A 8: 106,657,884 I328N probably damaging Het
Cebpz C T 17: 78,922,557 D856N probably damaging Het
Clip2 T A 5: 134,510,159 probably benign Het
Dock7 C A 4: 98,969,635 V1451F possibly damaging Het
Edem3 T G 1: 151,804,799 C558W probably damaging Het
Eif3f T C 7: 108,934,718 V96A probably damaging Het
Gen1 A G 12: 11,241,575 S738P probably damaging Het
Gm12666 T A 4: 92,191,011 D191V probably damaging Het
Gm8906 C T 5: 11,505,261 Q66* probably null Het
Ipo8 A T 6: 148,777,363 S912R probably benign Het
Kcp G T 6: 29,484,999 probably benign Het
Lrrfip1 A G 1: 91,053,661 T2A probably damaging Het
Lyst A G 13: 13,641,125 E1198G possibly damaging Het
Maml1 A G 11: 50,258,630 L761P probably damaging Het
Mon2 T A 10: 123,009,627 E1392V possibly damaging Het
Nol12 A G 15: 78,937,174 E78G probably damaging Het
Nov A G 15: 54,747,802 Y111C probably damaging Het
Olfr156 G A 4: 43,821,190 T57M possibly damaging Het
Olfr181 G A 16: 58,925,851 T240I possibly damaging Het
Papd7 T A 13: 69,510,625 M364L probably benign Het
Rag2 A T 2: 101,629,494 I50L probably benign Het
Rasgrf2 T C 13: 92,030,765 N267D probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rsc1a1 A T 4: 141,685,301 V100D probably damaging Het
Scly A T 1: 91,305,325 T109S probably benign Het
Scn8a A T 15: 100,970,254 S327C probably damaging Het
Sgsm1 T C 5: 113,286,767 probably benign Het
Slc4a9 A G 18: 36,531,987 Y463C probably damaging Het
Sptan1 A G 2: 29,998,183 M936V possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tbx20 T A 9: 24,773,737 N37Y probably benign Het
Tex14 C T 11: 87,486,274 T148I probably benign Het
Ubxn7 A G 16: 32,381,605 E371G probably benign Het
Ugt2b35 T C 5: 87,001,237 F116L probably benign Het
Vmn2r111 C T 17: 22,559,042 probably null Het
Vmn2r26 T C 6: 124,026,132 L167P probably benign Het
Vps13b T C 15: 35,917,142 W3711R probably damaging Het
Wdr5 A T 2: 27,534,828 T326S probably benign 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
IGL03046:Rtp1 UTSW 16 23429294 missense probably benign 0.30
P0028:Rtp1 UTSW 16 23429366 missense probably damaging 1.00
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 On2015-04-16