Incidental Mutation 'R6091:Or5aq1b'
ID 485905
Institutional Source Beutler Lab
Gene Symbol Or5aq1b
Ensembl Gene ENSMUSG00000075163
Gene Name olfactory receptor family 5 subfamily AQ member 1B
Synonyms GA_x6K02T2Q125-48565383-48564445, Olfr1107, MOR172-2
MMRRC Submission 044248-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R6091 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 86901459-86902567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86901705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 258 (S258C)
Ref Sequence ENSEMBL: ENSMUSP00000150135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099865] [ENSMUST00000214049]
AlphaFold A2AVB8
Predicted Effect probably benign
Transcript: ENSMUST00000099865
AA Change: S258C

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000097450
Gene: ENSMUSG00000075163
AA Change: S258C

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.9e-53 PFAM
Pfam:7tm_1 41 290 1.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214049
AA Change: S258C

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency 96% (54/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T G 2: 35,252,348 (GRCm39) T50P possibly damaging Het
Adad1 A G 3: 37,139,118 (GRCm39) E396G possibly damaging Het
Adamtsl3 T A 7: 82,114,829 (GRCm39) C232S probably damaging Het
AI606181 T C 19: 41,582,063 (GRCm39) S78P unknown Het
Amph T A 13: 19,309,293 (GRCm39) M457K probably benign Het
Ano1 A T 7: 144,223,171 (GRCm39) M174K probably benign Het
C3 T A 17: 57,528,967 (GRCm39) K632* probably null Het
Cep170 C T 1: 176,583,397 (GRCm39) G994D probably damaging Het
Chd7 T C 4: 8,751,875 (GRCm39) V124A probably damaging Het
Chd9 A G 8: 91,761,691 (GRCm39) K2259E probably damaging Het
Col7a1 A G 9: 108,784,402 (GRCm39) T137A unknown Het
Dcc C T 18: 71,942,185 (GRCm39) V311I probably benign Het
Ddx42 A T 11: 106,125,796 (GRCm39) Q282L probably damaging Het
Fcgbp A G 7: 27,804,390 (GRCm39) T1833A possibly damaging Het
Fpr-rs3 A G 17: 20,844,532 (GRCm39) I203T probably benign Het
Frem1 A G 4: 82,818,796 (GRCm39) I2139T probably benign Het
Frmpd2 T C 14: 33,244,820 (GRCm39) V546A probably damaging Het
Gbp11 G T 5: 105,479,254 (GRCm39) T123N possibly damaging Het
Hs3st1 G A 5: 39,772,007 (GRCm39) P212L probably damaging Het
Ifnb1 T A 4: 88,440,813 (GRCm39) M67L probably benign Het
Ighv1-54 T C 12: 115,157,497 (GRCm39) N50S probably benign Het
Ikzf4 G A 10: 128,470,542 (GRCm39) T326I probably benign Het
Ints2 A T 11: 86,127,429 (GRCm39) V501E probably damaging Het
Mfsd1 C A 3: 67,507,270 (GRCm39) probably null Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mrps11 G A 7: 78,438,466 (GRCm39) A73T possibly damaging Het
Mterf4 T C 1: 93,229,291 (GRCm39) E311G probably damaging Het
Mx2 A G 16: 97,347,635 (GRCm39) T176A probably damaging Het
Mycbp2 A C 14: 103,460,482 (GRCm39) L1495R probably damaging Het
Myo3b A G 2: 70,069,113 (GRCm39) T451A probably benign Het
Myrfl T C 10: 116,685,111 (GRCm39) T90A probably benign Het
Nbeal1 A G 1: 60,220,715 (GRCm39) probably benign Het
Ncor1 A G 11: 62,310,443 (GRCm39) L201P probably damaging Het
Nfxl1 G T 5: 72,671,533 (GRCm39) L909I probably benign Het
Nr3c1 GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 18: 39,620,011 (GRCm39) probably benign Het
Plscr5 A G 9: 92,086,437 (GRCm39) T136A probably benign Het
Ppp1r3a G A 6: 14,719,339 (GRCm39) T525I probably benign Het
Ptprg G A 14: 12,215,979 (GRCm38) G1143R probably damaging Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Ryr1 T C 7: 28,771,398 (GRCm39) T2541A probably benign Het
Sall1 A G 8: 89,755,247 (GRCm39) L1244P probably damaging Het
Sec16a G A 2: 26,316,482 (GRCm39) H1673Y probably damaging Het
Slc22a19 A G 19: 7,688,428 (GRCm39) I44T probably benign Het
Snap91 T A 9: 86,721,681 (GRCm39) N53Y probably damaging Het
Sorcs1 T C 19: 50,276,539 (GRCm39) T338A possibly damaging Het
Taf6l T C 19: 8,755,920 (GRCm39) T243A probably benign Het
Tex10 T C 4: 48,459,891 (GRCm39) R487G probably damaging Het
Tfcp2 G T 15: 100,410,194 (GRCm39) T391N probably damaging Het
Tnxb G A 17: 34,929,338 (GRCm39) V2794M probably damaging Het
Ush2a T G 1: 188,132,000 (GRCm39) C741G probably damaging Het
Vmn1r3 T A 4: 3,184,684 (GRCm39) I208F probably damaging Het
Vmn2r28 T A 7: 5,496,790 (GRCm39) I21F possibly damaging Het
Vmn2r93 A G 17: 18,545,958 (GRCm39) D610G probably benign Het
Wbp1 T C 6: 83,096,468 (GRCm39) S229G probably benign Het
Xirp1 A G 9: 119,847,029 (GRCm39) V618A probably benign Het
Zbtb32 A G 7: 30,291,254 (GRCm39) S14P possibly damaging Het
Zfp24 A G 18: 24,147,269 (GRCm39) S348P probably damaging Het
Other mutations in Or5aq1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Or5aq1b APN 2 86,901,563 (GRCm39) missense probably benign 0.00
IGL01521:Or5aq1b APN 2 86,902,077 (GRCm39) missense probably benign 0.11
IGL03350:Or5aq1b APN 2 86,901,904 (GRCm39) missense probably damaging 1.00
PIT4791001:Or5aq1b UTSW 2 86,902,046 (GRCm39) missense possibly damaging 0.94
R0801:Or5aq1b UTSW 2 86,902,407 (GRCm39) nonsense probably null
R1383:Or5aq1b UTSW 2 86,902,136 (GRCm39) missense probably damaging 1.00
R1577:Or5aq1b UTSW 2 86,901,741 (GRCm39) missense probably benign 0.15
R1762:Or5aq1b UTSW 2 86,902,265 (GRCm39) missense probably damaging 1.00
R2027:Or5aq1b UTSW 2 86,901,897 (GRCm39) missense possibly damaging 0.85
R3850:Or5aq1b UTSW 2 86,902,310 (GRCm39) missense possibly damaging 0.89
R5345:Or5aq1b UTSW 2 86,901,836 (GRCm39) missense possibly damaging 0.61
R5409:Or5aq1b UTSW 2 86,902,214 (GRCm39) missense possibly damaging 0.64
R5451:Or5aq1b UTSW 2 86,902,341 (GRCm39) missense probably damaging 1.00
R5735:Or5aq1b UTSW 2 86,901,756 (GRCm39) missense probably damaging 1.00
R6869:Or5aq1b UTSW 2 86,902,017 (GRCm39) missense probably benign 0.11
R7080:Or5aq1b UTSW 2 86,902,083 (GRCm39) missense probably damaging 1.00
R8130:Or5aq1b UTSW 2 86,901,570 (GRCm39) missense probably benign 0.09
R8147:Or5aq1b UTSW 2 86,902,017 (GRCm39) missense probably benign 0.11
R9087:Or5aq1b UTSW 2 86,902,299 (GRCm39) missense probably damaging 1.00
R9619:Or5aq1b UTSW 2 86,902,140 (GRCm39) missense possibly damaging 0.94
Z1177:Or5aq1b UTSW 2 86,902,457 (GRCm39) missense probably damaging 1.00
Z1177:Or5aq1b UTSW 2 86,902,109 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- ACACCAAGCTTTCTAAGTCAGAG -3'
(R):5'- ATGCACACAACAATGAGATGCTG -3'

Sequencing Primer
(F):5'- CCAAGCTTTCTAAGTCAGAGAAGTG -3'
(R):5'- CAACAATGAGATGCTGCTTTTGGTC -3'
Posted On 2017-08-16