Incidental Mutation 'R6191:Or5aq7'
ID 502538
Institutional Source Beutler Lab
Gene Symbol Or5aq7
Ensembl Gene ENSMUSG00000075160
Gene Name olfactory receptor family 5 subfamily AQ member 7
Synonyms Olfr259, MOR172-3, GA_x6K02T2N869-1820-882
MMRRC Submission 044331-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R6191 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 86937791-86938729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86938296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 145 (V145A)
Ref Sequence ENSEMBL: ENSMUSP00000151207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099862] [ENSMUST00000213978] [ENSMUST00000215828] [ENSMUST00000216088]
AlphaFold Q7TS20
Predicted Effect probably damaging
Transcript: ENSMUST00000099862
AA Change: V145A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097448
Gene: ENSMUSG00000075160
AA Change: V145A

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.6e-53 PFAM
Pfam:7tm_1 41 290 5.3e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213978
AA Change: V145A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000215828
AA Change: V145A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216088
AA Change: V145A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (84/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A C 9: 55,909,807 (GRCm39) D144E possibly damaging Het
Amigo2 T A 15: 97,143,419 (GRCm39) K334N probably benign Het
Ano6 T C 15: 95,846,380 (GRCm39) probably null Het
Ap1m2 C A 9: 21,210,601 (GRCm39) V343F probably benign Het
Apol6 T C 15: 76,940,098 (GRCm39) V307A probably benign Het
Arsi C A 18: 61,045,544 (GRCm39) A78E probably damaging Het
B2m A T 2: 121,981,396 (GRCm39) N37I possibly damaging Het
Bltp3b G T 10: 89,641,180 (GRCm39) G784C possibly damaging Het
C8a T C 4: 104,703,100 (GRCm39) K363R probably benign Het
Ccdc117 C A 11: 5,484,242 (GRCm39) probably null Het
Ccdc154 C A 17: 25,386,945 (GRCm39) Q325K probably damaging Het
Cd300e A T 11: 114,945,359 (GRCm39) V145E possibly damaging Het
Col19a1 G T 1: 24,356,474 (GRCm39) P673Q probably damaging Het
Csn2 A G 5: 87,843,885 (GRCm39) probably null Het
Ctnna1 T C 18: 35,307,408 (GRCm39) V135A probably damaging Het
Dnah11 T A 12: 118,154,632 (GRCm39) D216V probably benign Het
Dnah12 A G 14: 26,431,412 (GRCm39) H410R probably benign Het
Dock2 C T 11: 34,181,652 (GRCm39) R1637H possibly damaging Het
Dspp A G 5: 104,325,214 (GRCm39) N526D unknown Het
Frem2 T C 3: 53,562,701 (GRCm39) H602R probably benign Het
Galc A T 12: 98,218,293 (GRCm39) H186Q probably damaging Het
Grina T C 15: 76,133,218 (GRCm39) V262A probably damaging Het
Gse1 G A 8: 121,280,542 (GRCm39) probably null Het
H2-Oa C A 17: 34,312,842 (GRCm39) Q40K probably damaging Het
Hfm1 C A 5: 107,034,419 (GRCm39) D763Y possibly damaging Het
Hmcn2 T A 2: 31,348,758 (GRCm39) Y4925N probably damaging Het
Hs3st3b1 C A 11: 63,780,029 (GRCm39) R366L probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Iqank1 T C 15: 75,918,218 (GRCm39) probably null Het
Itpr2 A G 6: 146,229,833 (GRCm39) V1221A probably benign Het
Kdm6b T C 11: 69,297,584 (GRCm39) N285S probably benign Het
Klk1b1 T A 7: 43,620,081 (GRCm39) N181K probably damaging Het
Kmt2a C A 9: 44,738,125 (GRCm39) probably benign Het
Lama5 T C 2: 179,827,752 (GRCm39) D2170G probably damaging Het
Lama5 T A 2: 179,822,404 (GRCm39) T2890S probably damaging Het
Lsm2 T A 17: 35,201,131 (GRCm39) probably benign Het
Map3k5 G T 10: 19,899,415 (GRCm39) C232F probably damaging Het
Mapk9 T G 11: 49,754,383 (GRCm39) D45E probably damaging Het
Mpnd T C 17: 56,319,482 (GRCm39) V315A possibly damaging Het
Msh2 A G 17: 88,030,900 (GRCm39) I926V probably benign Het
Mtcl1 C T 17: 66,650,521 (GRCm39) R1345H probably damaging Het
Nbeal2 A G 9: 110,457,058 (GRCm39) probably null Het
Neo1 T C 9: 58,796,312 (GRCm39) D1205G probably damaging Het
Nhlrc2 A G 19: 56,559,291 (GRCm39) S259G probably benign Het
Nkain4 G A 2: 180,577,796 (GRCm39) P186L probably damaging Het
Nkain4 G A 2: 180,577,797 (GRCm39) P186S probably damaging Het
Nlrp1b T A 11: 71,109,283 (GRCm39) R73* probably null Het
Nr5a2 T C 1: 136,818,536 (GRCm39) D330G probably damaging Het
Nup54 A G 5: 92,572,153 (GRCm39) L299P probably damaging Het
Or2v1 T C 11: 49,025,877 (GRCm39) L286P probably damaging Het
Pcdhb8 T A 18: 37,489,279 (GRCm39) V319E probably benign Het
Pcsk6 T A 7: 65,578,875 (GRCm39) D129E probably benign Het
Pld5 G A 1: 175,798,100 (GRCm39) T433I probably benign Het
Plin1 A T 7: 79,371,347 (GRCm39) L459H probably benign Het
Psd4 T C 2: 24,284,499 (GRCm39) V121A probably damaging Het
Pxdn A T 12: 30,032,716 (GRCm39) I167F possibly damaging Het
R3hdm2 T C 10: 127,320,384 (GRCm39) S569P probably damaging Het
Rfng T A 11: 120,673,516 (GRCm39) T202S probably damaging Het
Robo1 T C 16: 72,730,696 (GRCm39) S266P probably benign Het
Sema3c G T 5: 17,858,804 (GRCm39) V68L probably damaging Het
Slco6c1 C T 1: 96,993,808 (GRCm39) R645H possibly damaging Het
Slfn8 A G 11: 82,907,626 (GRCm39) Y306H possibly damaging Het
Snap91 T C 9: 86,720,105 (GRCm39) D144G probably damaging Het
St7l T G 3: 104,775,349 (GRCm39) F75C probably damaging Het
Stard10 A G 7: 100,992,468 (GRCm39) I145V probably damaging Het
Tekt3 C T 11: 62,968,999 (GRCm39) A242V probably damaging Het
Tex44 A G 1: 86,354,306 (GRCm39) probably benign Het
Thg1l T C 11: 45,844,988 (GRCm39) Q88R probably benign Het
Trav8n-2 T A 14: 53,583,744 (GRCm39) I67N probably damaging Het
Ttn G A 2: 76,677,770 (GRCm39) probably benign Het
Ube4a A T 9: 44,861,051 (GRCm39) L253* probably null Het
Uggt1 A T 1: 36,201,289 (GRCm39) N1150K probably damaging Het
Ush2a T A 1: 187,995,298 (GRCm39) L23* probably null Het
Usp22 T A 11: 61,065,602 (GRCm39) N37I probably benign Het
Usp53 T A 3: 122,743,390 (GRCm39) K515N probably damaging Het
Vmn2r4 T C 3: 64,322,702 (GRCm39) K6E probably benign Het
Vps13d C T 4: 144,875,918 (GRCm39) V1530M probably damaging Het
Vwa3b A G 1: 37,153,612 (GRCm39) I485V possibly damaging Het
Wnk4 T C 11: 101,155,156 (GRCm39) Y356H probably damaging Het
Zcchc2 A G 1: 105,917,900 (GRCm39) probably benign Het
Zfp345 A C 2: 150,315,010 (GRCm39) Y176D probably benign Het
Zfp598 T C 17: 24,896,850 (GRCm39) F238S possibly damaging Het
Zkscan17 T C 11: 59,393,820 (GRCm39) D10G probably damaging Het
Zmat4 T G 8: 24,392,083 (GRCm39) M13R probably damaging Het
Other mutations in Or5aq7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02264:Or5aq7 APN 2 86,937,785 (GRCm39) utr 3 prime probably benign
IGL02540:Or5aq7 APN 2 86,938,386 (GRCm39) missense probably damaging 1.00
IGL02572:Or5aq7 APN 2 86,938,710 (GRCm39) missense possibly damaging 0.63
R2091:Or5aq7 UTSW 2 86,938,606 (GRCm39) missense probably damaging 1.00
R2928:Or5aq7 UTSW 2 86,938,107 (GRCm39) missense possibly damaging 0.88
R4107:Or5aq7 UTSW 2 86,937,999 (GRCm39) missense probably damaging 1.00
R4332:Or5aq7 UTSW 2 86,938,089 (GRCm39) missense possibly damaging 0.79
R4929:Or5aq7 UTSW 2 86,938,527 (GRCm39) missense possibly damaging 0.79
R5027:Or5aq7 UTSW 2 86,938,150 (GRCm39) missense probably benign 0.40
R6005:Or5aq7 UTSW 2 86,938,407 (GRCm39) missense probably benign 0.00
R6358:Or5aq7 UTSW 2 86,938,778 (GRCm39) start gained probably benign
R6399:Or5aq7 UTSW 2 86,938,330 (GRCm39) missense probably benign 0.21
R6554:Or5aq7 UTSW 2 86,937,970 (GRCm39) missense probably benign 0.34
R7836:Or5aq7 UTSW 2 86,937,861 (GRCm39) missense probably damaging 1.00
R7881:Or5aq7 UTSW 2 86,938,401 (GRCm39) missense probably damaging 0.99
R8069:Or5aq7 UTSW 2 86,938,411 (GRCm39) missense probably damaging 1.00
R9322:Or5aq7 UTSW 2 86,938,561 (GRCm39) missense probably damaging 0.98
R9743:Or5aq7 UTSW 2 86,937,840 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTGGATATAGGACACCATGACAATG -3'
(R):5'- AGAACACAAGTCTACGAGGCTG -3'

Sequencing Primer
(F):5'- GTGGAAATAGCAAACACACCTG -3'
(R):5'- CACAAGTCTACGAGGCTGTTTGC -3'
Posted On 2018-02-27