Incidental Mutation 'R7386:Or5al1'
ID 573080
Institutional Source Beutler Lab
Gene Symbol Or5al1
Ensembl Gene ENSMUSG00000075202
Gene Name olfactory receptor family 5 subfamily AL member 1
Synonyms Olfr1042, MOR185-10, GA_x6K02T2Q125-47629317-47628376
MMRRC Submission 045468-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R7386 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 85989689-85990785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85989874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 280 (V280A)
Ref Sequence ENSEMBL: ENSMUSP00000097492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099907] [ENSMUST00000099908] [ENSMUST00000213886] [ENSMUST00000213949] [ENSMUST00000215624] [ENSMUST00000216028]
AlphaFold Q7TR81
Predicted Effect probably benign
Transcript: ENSMUST00000099907
SMART Domains Protein: ENSMUSP00000097491
Gene: ENSMUSG00000075201

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 6.9e-46 PFAM
Pfam:7tm_1 41 290 1.5e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000099908
AA Change: V280A

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097492
Gene: ENSMUSG00000075202
AA Change: V280A

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.2e-48 PFAM
Pfam:7tm_1 41 290 1.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213886
Predicted Effect probably benign
Transcript: ENSMUST00000213949
Predicted Effect possibly damaging
Transcript: ENSMUST00000215624
AA Change: V280A

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000216028
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik A T 18: 69,083,208 (GRCm39) M2K unknown Het
Ablim3 T C 18: 61,955,065 (GRCm39) D308G probably damaging Het
Adamts17 A T 7: 66,618,597 (GRCm39) K370N probably benign Het
Adcy4 T C 14: 56,015,784 (GRCm39) Y435C probably damaging Het
Adgb A T 10: 10,253,693 (GRCm39) F1216I possibly damaging Het
Akr1a1 G A 4: 116,498,251 (GRCm39) T98I probably damaging Het
Alyref2 G T 1: 171,331,101 (GRCm39) probably benign Het
Ank3 T A 10: 69,658,079 (GRCm39) H168Q unknown Het
Bnc1 A C 7: 81,624,240 (GRCm39) L329R possibly damaging Het
Btaf1 G A 19: 36,935,782 (GRCm39) A191T probably benign Het
Carmil3 T G 14: 55,735,204 (GRCm39) probably null Het
Cd200r1 C A 16: 44,610,211 (GRCm39) D143E probably benign Het
Cep112 A G 11: 108,699,507 (GRCm39) H98R probably benign Het
Cmya5 T A 13: 93,205,831 (GRCm39) Q3346L probably damaging Het
Cpne4 T A 9: 104,749,939 (GRCm39) V81E possibly damaging Het
Ctnnd2 T A 15: 30,966,914 (GRCm39) M955K probably damaging Het
Ctsj A T 13: 61,148,373 (GRCm39) M307K possibly damaging Het
Ddhd2 G T 8: 26,244,318 (GRCm39) R103S possibly damaging Het
Depdc5 A G 5: 33,085,280 (GRCm39) T700A probably benign Het
Dhx57 A C 17: 80,575,006 (GRCm39) D657E possibly damaging Het
Dmbt1 G A 7: 130,713,965 (GRCm39) G1678S unknown Het
Dnajb1 A G 8: 84,336,932 (GRCm39) D234G probably benign Het
Dsc2 C T 18: 20,174,983 (GRCm39) V431M possibly damaging Het
Evi5 C A 5: 107,957,689 (GRCm39) probably null Het
Exoc2 T C 13: 31,090,646 (GRCm39) probably null Het
Foxo3 T C 10: 42,073,356 (GRCm39) D387G probably benign Het
Gda A G 19: 21,387,250 (GRCm39) I325T probably benign Het
Iqgap1 A G 7: 80,375,790 (GRCm39) S1362P probably damaging Het
Klf10 G T 15: 38,297,193 (GRCm39) N282K possibly damaging Het
Mettl13 A G 1: 162,375,723 (GRCm39) Y35H probably damaging Het
Mill2 A G 7: 18,592,215 (GRCm39) T279A probably benign Het
Ncaph2 G A 15: 89,254,459 (GRCm39) W386* probably null Het
Nploc4 A T 11: 120,299,707 (GRCm39) S338T probably benign Het
Nrip1 T C 16: 76,090,775 (GRCm39) S261G probably damaging Het
Or2y16 T C 11: 49,335,227 (GRCm39) F183S possibly damaging Het
Or7a38 T A 10: 78,752,677 (GRCm39) M1K probably null Het
Palld A G 8: 61,985,086 (GRCm39) F1060L unknown Het
Pfas C G 11: 68,894,600 (GRCm39) V22L probably benign Het
Pygo2 T G 3: 89,340,128 (GRCm39) F175L probably benign Het
Rnf2 T C 1: 151,347,131 (GRCm39) E316G probably damaging Het
Rtn4 T A 11: 29,657,772 (GRCm39) M642K probably damaging Het
Saa3 A G 7: 46,364,347 (GRCm39) C60R unknown Het
Saxo5 A G 8: 3,537,079 (GRCm39) K475R probably benign Het
Scap A G 9: 110,202,237 (GRCm39) T202A probably benign Het
Scn9a T A 2: 66,370,894 (GRCm39) D562V probably damaging Het
Slc6a19 A T 13: 73,838,010 (GRCm39) V163E possibly damaging Het
Smc5 G A 19: 23,192,539 (GRCm39) H850Y possibly damaging Het
Spef1l A T 7: 139,555,965 (GRCm39) C225* probably null Het
Sqle G A 15: 59,202,603 (GRCm39) R519Q probably benign Het
Sulf1 T C 1: 12,908,585 (GRCm39) Y533H probably benign Het
Thbs2 A G 17: 14,893,412 (GRCm39) S923P possibly damaging Het
Themis A G 10: 28,665,743 (GRCm39) D602G probably benign Het
Tmem132c A G 5: 127,640,990 (GRCm39) K1054E probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tnrc6c T A 11: 117,612,780 (GRCm39) C313S probably benign Het
Top6bl G A 19: 4,713,586 (GRCm39) R285* probably null Het
Tpm1 T C 9: 66,935,449 (GRCm39) I284M probably benign Het
Trpm4 A T 7: 44,964,064 (GRCm39) L722H possibly damaging Het
Trub2 T G 2: 29,676,607 (GRCm39) Q41P probably benign Het
Usp17le A C 7: 104,417,514 (GRCm39) probably null Het
Zfp398 G A 6: 47,835,884 (GRCm39) V148I probably benign Het
Zfp40 T C 17: 23,395,981 (GRCm39) E202G probably damaging Het
Zfp618 T A 4: 63,013,622 (GRCm39) probably null Het
Zfp667 T A 7: 6,308,949 (GRCm39) I539N possibly damaging Het
Zfp738 A T 13: 67,818,369 (GRCm39) C541S probably damaging Het
Other mutations in Or5al1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01914:Or5al1 APN 2 85,990,391 (GRCm39) missense probably benign 0.04
IGL02071:Or5al1 APN 2 85,990,219 (GRCm39) missense probably benign
IGL02935:Or5al1 APN 2 85,990,714 (GRCm39) unclassified probably benign
IGL03152:Or5al1 APN 2 85,990,030 (GRCm39) missense possibly damaging 0.95
R0089:Or5al1 UTSW 2 85,989,918 (GRCm39) missense possibly damaging 0.89
R1419:Or5al1 UTSW 2 85,989,773 (GRCm39) makesense probably null
R1699:Or5al1 UTSW 2 85,990,280 (GRCm39) missense probably benign
R1804:Or5al1 UTSW 2 85,990,417 (GRCm39) missense probably benign 0.38
R3162:Or5al1 UTSW 2 85,990,439 (GRCm39) missense probably benign 0.03
R3162:Or5al1 UTSW 2 85,990,439 (GRCm39) missense probably benign 0.03
R3609:Or5al1 UTSW 2 85,989,976 (GRCm39) missense probably benign 0.00
R3953:Or5al1 UTSW 2 85,990,282 (GRCm39) missense probably benign 0.02
R3955:Or5al1 UTSW 2 85,990,282 (GRCm39) missense probably benign 0.02
R3956:Or5al1 UTSW 2 85,990,282 (GRCm39) missense probably benign 0.02
R3957:Or5al1 UTSW 2 85,990,282 (GRCm39) missense probably benign 0.02
R4771:Or5al1 UTSW 2 85,990,417 (GRCm39) missense probably benign 0.38
R5685:Or5al1 UTSW 2 85,990,139 (GRCm39) missense probably damaging 0.99
R6241:Or5al1 UTSW 2 85,990,380 (GRCm39) missense probably damaging 1.00
R6324:Or5al1 UTSW 2 85,989,800 (GRCm39) missense probably benign
R6678:Or5al1 UTSW 2 85,990,529 (GRCm39) missense probably damaging 0.98
R6921:Or5al1 UTSW 2 85,990,196 (GRCm39) missense probably benign 0.02
R7215:Or5al1 UTSW 2 85,989,800 (GRCm39) missense probably benign
R8030:Or5al1 UTSW 2 85,990,586 (GRCm39) missense probably benign
R9694:Or5al1 UTSW 2 85,990,681 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTTTCCAGTGCTGCGAATGTAG -3'
(R):5'- GCTGGCTTCAACACTCTTTG -3'

Sequencing Primer
(F):5'- CCAGTGGTTCTTCAGTTAC -3'
(R):5'- AACACTCTTTGCTCTCTGGTGATTG -3'
Posted On 2019-09-13