Incidental Mutation 'R3979:Rarres1'
ID 311174
Institutional Source Beutler Lab
Gene Symbol Rarres1
Ensembl Gene ENSMUSG00000049404
Gene Name retinoic acid receptor responder (tazarotene induced) 1
Synonyms 5430417P09Rik
MMRRC Submission 040942-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R3979 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 67386305-67422856 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67403143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 86 (V86A)
Ref Sequence ENSEMBL: ENSMUSP00000056728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054825]
AlphaFold F6ZIS7
Predicted Effect probably benign
Transcript: ENSMUST00000054825
AA Change: V86A

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000056728
Gene: ENSMUSG00000049404
AA Change: V86A

DomainStartEndE-ValueType
low complexity region 45 62 N/A INTRINSIC
Pfam:Latexin 81 299 8e-103 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,154,320 (GRCm39) V82A probably benign Het
Adam28 A G 14: 68,848,443 (GRCm39) V671A probably benign Het
Ak3 T A 19: 29,025,118 (GRCm39) S38C probably damaging Het
Arfgef1 A G 1: 10,279,859 (GRCm39) V236A probably benign Het
Arhgap10 T C 8: 78,147,354 (GRCm39) N170S probably benign Het
B020004C17Rik G T 14: 57,254,645 (GRCm39) M156I possibly damaging Het
Bicral T A 17: 47,141,917 (GRCm39) M1L unknown Het
Bop1 A G 15: 76,338,076 (GRCm39) L598P probably damaging Het
Cachd1 A T 4: 100,828,085 (GRCm39) D611V probably damaging Het
Cfap70 T A 14: 20,489,787 (GRCm39) E246D probably benign Het
Chl1 T A 6: 103,692,245 (GRCm39) Y294* probably null Het
Chrna2 T A 14: 66,386,402 (GRCm39) Y183N probably damaging Het
Dab2 A G 15: 6,464,644 (GRCm39) probably null Het
Dnajb6 T C 5: 29,956,006 (GRCm39) F46L possibly damaging Het
Exoc7 T C 11: 116,187,588 (GRCm39) E275G probably benign Het
Frem2 A G 3: 53,559,491 (GRCm39) I1672T probably benign Het
Gprc6a C A 10: 51,497,197 (GRCm39) V449L probably benign Het
H2-M10.4 A G 17: 36,772,877 (GRCm39) V35A probably benign Het
Hr A G 14: 70,801,024 (GRCm39) T699A probably benign Het
Iffo1 A G 6: 125,137,552 (GRCm39) probably benign Het
Iqgap1 G A 7: 80,409,682 (GRCm39) H218Y probably damaging Het
Itpr3 A C 17: 27,304,105 (GRCm39) K109Q probably benign Het
Itpr3 A G 17: 27,310,546 (GRCm39) D443G probably damaging Het
Katna1 T C 10: 7,628,518 (GRCm39) M249T probably damaging Het
Klk1b4 G A 7: 43,861,017 (GRCm39) G220D probably damaging Het
Krt24 A G 11: 99,173,596 (GRCm39) C242R probably benign Het
Madd G A 2: 91,007,173 (GRCm39) T313I possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mical2 A G 7: 112,006,885 (GRCm39) probably null Het
Neil3 T C 8: 54,076,699 (GRCm39) T79A probably damaging Het
Nras A G 3: 102,967,541 (GRCm39) I46V probably benign Het
Or2w1b T A 13: 21,300,031 (GRCm39) H56Q probably benign Het
Or4a66 T C 2: 88,530,792 (GRCm39) S294G probably benign Het
Ppfia2 A G 10: 106,666,490 (GRCm39) T399A possibly damaging Het
Rdh19 A T 10: 127,685,944 (GRCm39) R19W possibly damaging Het
Rock2 A G 12: 17,022,737 (GRCm39) K1059E probably damaging Het
Sft2d1rt T A 11: 45,942,853 (GRCm39) K90M probably damaging Het
Sparcl1 T C 5: 104,240,647 (GRCm39) H259R probably benign Het
Spata31d1c A G 13: 65,182,974 (GRCm39) D172G possibly damaging Het
Stab2 T C 10: 86,699,320 (GRCm39) D515G possibly damaging Het
Sycp2l A G 13: 41,295,440 (GRCm39) I334M probably damaging Het
Tas2r103 A G 6: 133,013,280 (GRCm39) L262P probably benign Het
Tasor T C 14: 27,199,087 (GRCm39) L1335S possibly damaging Het
Tcaf2 A G 6: 42,619,481 (GRCm39) V182A probably damaging Het
Tcof1 C T 18: 60,964,605 (GRCm39) E674K possibly damaging Het
Trp63 A G 16: 25,639,490 (GRCm39) probably benign Het
Ttn A T 2: 76,575,738 (GRCm39) W25052R probably damaging Het
Ubr1 T A 2: 120,693,168 (GRCm39) N1746I probably benign Het
Vax2 T C 6: 83,714,529 (GRCm39) V148A probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vmn2r96 T A 17: 18,817,941 (GRCm39) I698N probably damaging Het
Wdr90 A G 17: 26,078,252 (GRCm39) V372A probably benign Het
Zfp335 C T 2: 164,752,558 (GRCm39) G62D probably benign Het
Zfp563 G A 17: 33,324,701 (GRCm39) R432H probably benign Het
Zhx1 T C 15: 57,916,636 (GRCm39) T537A probably benign Het
Other mutations in Rarres1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02175:Rarres1 APN 3 67,403,089 (GRCm39) missense probably benign 0.13
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
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
Predicted Primers PCR Primer
(F):5'- GAAAATCTCCAGGCTTTACTTGTTC -3'
(R):5'- AGTGCCCAAGGACATAATGC -3'

Sequencing Primer
(F):5'- AGGCTTTACTTGTTCATATTCTCAC -3'
(R):5'- CCTTGGTACTGGAGTTACACACAG -3'
Posted On 2015-04-29