Incidental Mutation 'R4777:Or1r1'
ID 368042
Institutional Source Beutler Lab
Gene Symbol Or1r1
Ensembl Gene ENSMUSG00000049041
Gene Name olfactory receptor family 1 subfamily JRmember 1
Synonyms GA_x6K02T2P1NL-4141430-4140486, Olfr398, MOR157-1
MMRRC Submission 041992-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R4777 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 73874488-73875432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73875221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 71 (V71A)
Ref Sequence ENSEMBL: ENSMUSP00000149170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053874] [ENSMUST00000117510] [ENSMUST00000214334]
AlphaFold Q8VFY0
Predicted Effect probably benign
Transcript: ENSMUST00000053874
AA Change: V71A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000059548
Gene: ENSMUSG00000049041
AA Change: V71A

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 4e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 305 3.5e-5 PFAM
Pfam:7tm_1 41 290 1.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117510
AA Change: V71A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000113005
Gene: ENSMUSG00000049041
AA Change: V71A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 305 3.5e-5 PFAM
Pfam:7tm_1 41 290 6.4e-28 PFAM
Pfam:7tm_4 140 283 4.7e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214334
AA Change: V71A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A C 3: 137,771,503 (GRCm39) S231R probably benign Het
5730455P16Rik A T 11: 80,265,041 (GRCm39) I137N probably damaging Het
Abhd10 G A 16: 45,557,279 (GRCm39) Q176* probably null Het
Acer3 T C 7: 97,910,804 (GRCm39) Y86C probably damaging Het
Ankrd36 T C 11: 5,557,120 (GRCm39) V356A probably benign Het
Atp1a1 A G 3: 101,502,312 (GRCm39) probably null Het
Bmp8b G A 4: 123,015,793 (GRCm39) R260Q possibly damaging Het
C2cd3 T A 7: 100,065,539 (GRCm39) V775D possibly damaging Het
Cacna1b T A 2: 24,622,337 (GRCm39) I216F probably damaging Het
Capn5 T A 7: 97,780,925 (GRCm39) N284I probably damaging Het
Cbr1 C A 16: 93,406,942 (GRCm39) D219E probably benign Het
Cdca2 C T 14: 67,950,589 (GRCm39) R114Q probably damaging Het
Cdh20 G A 1: 109,922,055 (GRCm39) W49* probably null Het
Cep152 C T 2: 125,406,015 (GRCm39) V1506I probably benign Het
Cfap97 C T 8: 46,648,334 (GRCm39) Q537* probably null Het
Cpsf2 T A 12: 101,963,091 (GRCm39) V385E probably damaging Het
Dse A G 10: 34,029,584 (GRCm39) V502A possibly damaging Het
Fam171a1 T A 2: 3,224,550 (GRCm39) F300L probably benign Het
Fnip1 T G 11: 54,391,382 (GRCm39) N438K probably damaging Het
Fstl5 C T 3: 76,500,807 (GRCm39) T412M probably damaging Het
Gm11938 T A 11: 99,494,059 (GRCm39) Q12L unknown Het
Hcls1 G T 16: 36,775,678 (GRCm39) A171S probably damaging Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 118,112,269 (GRCm39) probably benign Het
Hydin G T 8: 111,137,096 (GRCm39) C633F probably damaging Het
Ica1 A T 6: 8,644,145 (GRCm39) D381E probably benign Het
Ift74 A G 4: 94,541,234 (GRCm39) K220E probably benign Het
Igfn1 A T 1: 135,882,600 (GRCm39) D2748E probably benign Het
Il16 A C 7: 83,300,104 (GRCm39) D396E probably benign Het
Impdh1 G T 6: 29,205,201 (GRCm39) A200E possibly damaging Het
Itga4 C T 2: 79,144,054 (GRCm39) T647I possibly damaging Het
Jpt1 A T 11: 115,391,497 (GRCm39) M104K probably benign Het
Krt73 C A 15: 101,702,436 (GRCm39) A476S probably benign Het
Lama3 T C 18: 12,546,828 (GRCm39) Y363H probably damaging Het
Lgr4 C T 2: 109,827,027 (GRCm39) P177L probably damaging Het
Lrp2 T C 2: 69,312,608 (GRCm39) D2560G probably damaging Het
Ly6m T C 15: 74,752,532 (GRCm39) N48S probably benign Het
Macf1 A T 4: 123,270,295 (GRCm39) F6617I probably damaging Het
Mcf2l T A 8: 13,068,051 (GRCm39) probably null Het
Mcub T A 3: 129,763,600 (GRCm39) Q42L probably damaging Het
Mfsd9 C T 1: 40,820,700 (GRCm39) V150I possibly damaging Het
Myo15b T C 11: 115,770,478 (GRCm39) V96A probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10aa3 T G 1: 173,878,244 (GRCm39) Y102D probably damaging Het
Or10g6 T C 9: 39,933,994 (GRCm39) F102L possibly damaging Het
Pgap6 T C 17: 26,340,515 (GRCm39) V633A probably damaging Het
Pinlyp T A 7: 24,241,568 (GRCm39) I153F possibly damaging Het
Plk2 A C 13: 110,534,307 (GRCm39) M296L probably benign Het
Plvap T C 8: 71,960,630 (GRCm39) Y262C probably benign Het
Ppfia3 C A 7: 44,990,581 (GRCm39) G1066V probably damaging Het
Prokr1 A G 6: 87,565,842 (GRCm39) M1T probably null Het
Ptgs2 G T 1: 149,981,138 (GRCm39) A474S probably benign Het
Pth2r A G 1: 65,427,676 (GRCm39) T450A possibly damaging Het
Ranbp6 A T 19: 29,789,037 (GRCm39) F438L probably damaging Het
Ripor1 A T 8: 106,341,622 (GRCm39) Q102L probably damaging Het
Rprd2 C T 3: 95,694,686 (GRCm39) V116I probably benign Het
Sacs T C 14: 61,449,258 (GRCm39) V3768A probably damaging Het
Scn8a T C 15: 100,913,832 (GRCm39) Y1075H probably damaging Het
Senp3 C T 11: 69,569,063 (GRCm39) G366D probably damaging Het
Smim1 T C 4: 154,108,107 (GRCm39) probably benign Het
Sptan1 A G 2: 29,886,447 (GRCm39) I817V probably damaging Het
Stag3 A T 5: 138,307,461 (GRCm39) probably benign Het
Stk17b A T 1: 53,810,867 (GRCm39) H79Q probably damaging Het
Svil A G 18: 5,088,813 (GRCm39) K1296E probably damaging Het
Tmem117 T A 15: 94,992,331 (GRCm39) Y330* probably null Het
Tnxb G T 17: 34,890,917 (GRCm39) R420L probably damaging Het
Trim9 C A 12: 70,393,845 (GRCm39) C33F probably damaging Het
Usp29 A C 7: 6,965,747 (GRCm39) Y530S probably benign Het
Vps26b T C 9: 26,921,752 (GRCm39) T258A possibly damaging Het
Vrtn C A 12: 84,695,600 (GRCm39) H117N probably damaging Het
Wdr33 C T 18: 32,014,301 (GRCm39) H388Y probably damaging Het
Zfp451 A T 1: 33,821,186 (GRCm39) V222D possibly damaging Het
Zfp953 A G 13: 67,491,193 (GRCm39) I253T probably benign Het
Zfy2 A G Y: 2,116,194 (GRCm39) V282A probably benign Het
Zscan29 A T 2: 120,999,805 (GRCm39) V132D probably damaging Het
Zswim4 G T 8: 84,963,586 (GRCm39) D16E probably benign Het
Other mutations in Or1r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01084:Or1r1 APN 11 73,875,353 (GRCm39) missense probably damaging 1.00
IGL01116:Or1r1 APN 11 73,875,144 (GRCm39) missense probably damaging 1.00
R0242:Or1r1 UTSW 11 73,874,538 (GRCm39) missense probably benign
R0242:Or1r1 UTSW 11 73,874,538 (GRCm39) missense probably benign
R0647:Or1r1 UTSW 11 73,874,597 (GRCm39) missense probably damaging 0.99
R0906:Or1r1 UTSW 11 73,874,685 (GRCm39) missense probably damaging 0.99
R1581:Or1r1 UTSW 11 73,875,347 (GRCm39) missense probably damaging 1.00
R1792:Or1r1 UTSW 11 73,874,673 (GRCm39) missense probably benign 0.34
R1832:Or1r1 UTSW 11 73,875,319 (GRCm39) missense probably damaging 0.98
R1879:Or1r1 UTSW 11 73,875,368 (GRCm39) missense probably benign 0.00
R2138:Or1r1 UTSW 11 73,875,129 (GRCm39) missense probably damaging 1.00
R2988:Or1r1 UTSW 11 73,874,627 (GRCm39) missense probably benign 0.13
R4557:Or1r1 UTSW 11 73,875,425 (GRCm39) missense probably benign 0.25
R4606:Or1r1 UTSW 11 73,874,718 (GRCm39) missense probably damaging 1.00
R4783:Or1r1 UTSW 11 73,874,834 (GRCm39) missense probably damaging 0.97
R5047:Or1r1 UTSW 11 73,875,204 (GRCm39) missense probably damaging 1.00
R5696:Or1r1 UTSW 11 73,875,362 (GRCm39) missense possibly damaging 0.90
R6379:Or1r1 UTSW 11 73,875,099 (GRCm39) missense probably damaging 1.00
R7166:Or1r1 UTSW 11 73,875,121 (GRCm39) missense possibly damaging 0.81
R7254:Or1r1 UTSW 11 73,874,603 (GRCm39) missense probably benign 0.40
R7324:Or1r1 UTSW 11 73,874,669 (GRCm39) missense probably benign 0.06
R7444:Or1r1 UTSW 11 73,874,576 (GRCm39) missense probably damaging 1.00
R7831:Or1r1 UTSW 11 73,875,257 (GRCm39) missense probably damaging 1.00
R8540:Or1r1 UTSW 11 73,875,153 (GRCm39) missense probably damaging 1.00
X0012:Or1r1 UTSW 11 73,875,120 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ATAGTGCAGCGGTCTACACAC -3'
(R):5'- TTCAGCATTCCCATGGGTAC -3'

Sequencing Primer
(F):5'- GGTCTACACACAGCCACCG -3'
(R):5'- TCCATGGCTGTGACCAAC -3'
Posted On 2015-12-29