Incidental Mutation 'IGL02175:Rarres1'
ID 283059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rarres1
Ensembl Gene ENSMUSG00000049404
Gene Name retinoic acid receptor responder (tazarotene induced) 1
Synonyms 5430417P09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL02175
Quality Score
Status
Chromosome 3
Chromosomal Location 67386305-67422856 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67403089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 104 (N104S)
Ref Sequence ENSEMBL: ENSMUSP00000056728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054825]
AlphaFold F6ZIS7
Predicted Effect probably benign
Transcript: ENSMUST00000054825
AA Change: N104S

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000056728
Gene: ENSMUSG00000049404
AA Change: N104S

DomainStartEndE-ValueType
low complexity region 45 62 N/A INTRINSIC
Pfam:Latexin 81 299 8e-103 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression of this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression of this gene is found to be downregulated in prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,261,642 (GRCm39) probably null Het
Adgrf5 A G 17: 43,761,901 (GRCm39) I1199V probably damaging Het
Atm T A 9: 53,391,965 (GRCm39) H1808L probably damaging Het
Cadps C T 14: 12,467,092 (GRCm38) V942M probably damaging Het
Capns1 T C 7: 29,889,957 (GRCm39) D116G probably benign Het
Ccdc110 T G 8: 46,393,660 (GRCm39) M124R probably benign Het
Cdh23 T C 10: 60,167,087 (GRCm39) N1855S possibly damaging Het
Dstyk T A 1: 132,377,129 (GRCm39) L245* probably null Het
Dync2h1 A G 9: 7,111,548 (GRCm39) Y289H possibly damaging Het
Efcab6 G A 15: 83,780,301 (GRCm39) A1044V probably damaging Het
Egr1 T C 18: 34,996,108 (GRCm39) S297P probably benign Het
Ercc6l2 T C 13: 64,017,004 (GRCm39) probably benign Het
Frem2 C T 3: 53,563,020 (GRCm39) A496T possibly damaging Het
Hook2 T A 8: 85,718,031 (GRCm39) W53R probably damaging Het
Med19 T A 2: 84,509,007 (GRCm39) probably null Het
Mgrn1 A G 16: 4,738,232 (GRCm39) N262S probably benign Het
Nbas T G 12: 13,616,260 (GRCm39) probably null Het
Ndc80 A C 17: 71,818,414 (GRCm39) M314R probably benign Het
Nelfcd A T 2: 174,262,175 (GRCm39) T89S probably benign Het
Nlrp4a A T 7: 26,174,522 (GRCm39) E969D probably damaging Het
Ntrk3 A G 7: 77,896,976 (GRCm39) V687A probably damaging Het
Oc90 A C 15: 65,755,674 (GRCm39) S224R possibly damaging Het
Or4a69 T C 2: 89,312,626 (GRCm39) I284M possibly damaging Het
Plxnb1 C T 9: 108,929,914 (GRCm39) H257Y possibly damaging Het
Prpf3 A G 3: 95,741,419 (GRCm39) V579A probably damaging Het
Serpina1d T C 12: 103,731,955 (GRCm39) probably null Het
Sik2 G A 9: 50,806,909 (GRCm39) Q834* probably null Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Snx13 T A 12: 35,182,061 (GRCm39) N703K possibly damaging Het
Spaca9 T C 2: 28,585,936 (GRCm39) I43V probably benign Het
Tor1aip2 T C 1: 155,940,752 (GRCm39) S353P probably damaging Het
Trmt1l T C 1: 151,324,235 (GRCm39) S361P probably benign Het
Trpm2 T C 10: 77,773,741 (GRCm39) H558R probably benign Het
Vmn1r75 T C 7: 11,614,774 (GRCm39) C127R probably damaging Het
Zfp879 A T 11: 50,728,743 (GRCm39) Y84N probably benign Het
Other mutations in Rarres1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03115:Rarres1 APN 3 67,403,145 (GRCm39) critical splice acceptor site probably null
R3815:Rarres1 UTSW 3 67,422,654 (GRCm39) missense probably benign 0.00
R3979:Rarres1 UTSW 3 67,403,143 (GRCm39) missense probably benign 0.13
R6586:Rarres1 UTSW 3 67,398,366 (GRCm39) missense probably damaging 1.00
R7286:Rarres1 UTSW 3 67,422,517 (GRCm39) missense probably benign
R7696:Rarres1 UTSW 3 67,398,345 (GRCm39) missense probably benign
R7816:Rarres1 UTSW 3 67,386,677 (GRCm39) missense probably damaging 0.99
R9137:Rarres1 UTSW 3 67,422,801 (GRCm39) start gained probably benign
R9170:Rarres1 UTSW 3 67,386,924 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16