Incidental Mutation 'R8130:Or5aq1b'
ID 631947
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 067559-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R8130 (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 C at 86901570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 303 (K303E)
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: K303E

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000097450
Gene: ENSMUSG00000075163
AA Change: K303E

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: K303E

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.1%
  • 20x: 97.3%
Validation Efficiency 96% (52/54)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,271 (GRCm39) I130M probably damaging Het
4921539E11Rik T C 4: 103,092,895 (GRCm39) D142G probably damaging Het
Abcb10 C T 8: 124,691,757 (GRCm39) A403T Het
Arfgef2 T A 2: 166,678,170 (GRCm39) S218T possibly damaging Het
Armc8 C T 9: 99,433,600 (GRCm39) V40I probably benign Het
Caps2 A T 10: 112,018,381 (GRCm39) D177V probably benign Het
Cdh8 A T 8: 99,757,676 (GRCm39) F641I probably damaging Het
Cemip T C 7: 83,596,384 (GRCm39) S1127G probably benign Het
Cmtm1 C A 8: 105,036,088 (GRCm39) Q180H unknown Het
Col15a1 C T 4: 47,312,196 (GRCm39) T1337I probably damaging Het
Col18a1 A T 10: 76,910,284 (GRCm39) M555K probably benign Het
Ctrb1 A G 8: 112,415,823 (GRCm39) F89L possibly damaging Het
Disp1 T C 1: 182,917,199 (GRCm39) T76A probably benign Het
Dpep1 T C 8: 123,926,965 (GRCm39) V263A probably damaging Het
Dysf G A 6: 84,114,358 (GRCm39) E1216K probably damaging Het
F830016B08Rik A G 18: 60,433,052 (GRCm39) Y45C probably benign Het
Fam186a CGG CG 15: 99,841,914 (GRCm39) probably null Het
Gcm1 T A 9: 77,971,816 (GRCm39) D252E probably benign Het
Gm11559 A G 11: 99,755,416 (GRCm39) T22A unknown Het
Gm4847 C T 1: 166,465,917 (GRCm39) R224Q probably damaging Het
Hypk A G 2: 121,286,859 (GRCm39) probably benign Het
I830077J02Rik C T 3: 105,834,233 (GRCm39) C64Y possibly damaging Het
Igkv4-86 T C 6: 68,887,650 (GRCm39) I30V probably benign Het
Il17ra A G 6: 120,455,416 (GRCm39) I342V probably benign Het
Kcnip3 C T 2: 127,352,828 (GRCm39) A64T possibly damaging Het
Kdm5d T A Y: 940,658 (GRCm39) D1056E possibly damaging Het
Kif19b C T 5: 140,460,716 (GRCm39) R461C probably damaging Het
Krtap19-2 C T 16: 88,670,903 (GRCm39) G81R unknown Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lpin1 A T 12: 16,629,965 (GRCm39) I69N Het
Matcap1 G A 8: 106,012,145 (GRCm39) R101W probably benign Het
Mki67 C T 7: 135,299,293 (GRCm39) D1914N probably damaging Het
Mmrn1 A T 6: 60,937,707 (GRCm39) Q235L probably damaging Het
Mndal T A 1: 173,699,111 (GRCm39) K185* probably null Het
Muc6 T C 7: 141,233,354 (GRCm39) T802A probably damaging Het
Necab1 A T 4: 15,005,073 (GRCm39) F130L probably damaging Het
Nemf A T 12: 69,402,826 (GRCm39) M70K possibly damaging Het
Nploc4 A G 11: 120,280,240 (GRCm39) I436T possibly damaging Het
Obscn C A 11: 59,015,439 (GRCm39) R1011M probably damaging Het
Or4k44 A T 2: 111,367,825 (GRCm39) F270I probably damaging Het
Or8k24 T A 2: 86,215,911 (GRCm39) M284L probably benign Het
Ormdl1 T A 1: 53,338,139 (GRCm39) M1K probably null Het
Pramel34 A T 5: 93,784,597 (GRCm39) L289Q probably damaging Het
Psmb3 A G 11: 97,594,723 (GRCm39) D38G probably benign Het
Psme4 T A 11: 30,792,026 (GRCm39) L1171Q probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Slc22a18 G A 7: 143,052,911 (GRCm39) V379I probably damaging Het
Speg T A 1: 75,392,240 (GRCm39) F1632L probably damaging Het
Taok1 G A 11: 77,470,659 (GRCm39) R49C possibly damaging Het
Ttll6 T C 11: 96,047,425 (GRCm39) S675P probably benign Het
Usp8 A T 2: 126,559,918 (GRCm39) probably benign Het
Vmn2r81 T A 10: 79,110,538 (GRCm39) N550K possibly damaging Het
Zfp119a A T 17: 56,172,971 (GRCm39) C291S probably damaging Het
Zfp329 C A 7: 12,544,313 (GRCm39) G404C probably damaging Het
Zfp934 C A 13: 62,667,985 (GRCm39) probably null 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
R6091:Or5aq1b UTSW 2 86,901,705 (GRCm39) missense probably benign 0.03
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
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'- GCTTTGTAGAGCCATGTAAAAGAATCC -3'
(R):5'- TGCTTCACACCTGACAGCTG -3'

Sequencing Primer
(F):5'- GCCATGTAAAAGAATCCATGAGAAC -3'
(R):5'- AGTACTCCATGGAACAGG -3'
Posted On 2020-06-30