Incidental Mutation 'R3953:Or5al1'
ID 308026
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 040830-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R3953 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 85989689-85990785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85990282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 144 (V144A)
Ref Sequence ENSEMBL: ENSMUSP00000151053 (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 probably benign
Transcript: ENSMUST00000099908
AA Change: V144A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000097492
Gene: ENSMUSG00000075202
AA Change: V144A

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 probably benign
Transcript: ENSMUST00000215624
AA Change: V144A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000216028
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (61/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
Adgrf1 A G 17: 43,621,098 (GRCm39) N445S probably benign Het
Aldh7a1 C A 18: 56,681,577 (GRCm39) V198L probably damaging Het
Ank2 A T 3: 126,781,809 (GRCm39) D6E probably damaging Het
Arhgap31 A G 16: 38,423,826 (GRCm39) F747L probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cadps T C 14: 12,505,937 (GRCm38) D711G probably damaging Het
Clspn ACGGCGGCGGC A 4: 126,460,230 (GRCm39) probably null Het
Cpsf3 A G 12: 21,363,806 (GRCm39) D632G probably benign Het
Cyp4f18 C T 8: 72,754,801 (GRCm39) R148H probably damaging Het
Dennd4a C A 9: 64,759,857 (GRCm39) P321T probably damaging Het
Dennd5a A G 7: 109,504,906 (GRCm39) M868T probably benign Het
Dipk1b C T 2: 26,525,579 (GRCm39) P171L probably benign Het
Dnah2 G A 11: 69,344,929 (GRCm39) T2715M probably damaging Het
Evc2 T C 5: 37,537,931 (GRCm39) probably null Het
Fkbp8 T G 8: 70,987,517 (GRCm39) S376A probably damaging Het
Gucy1a2 T C 9: 3,582,704 (GRCm39) probably benign Het
Gys1 C T 7: 45,089,470 (GRCm39) P274S probably damaging Het
Hbq1a T C 11: 32,250,214 (GRCm39) probably null Het
Herc1 C T 9: 66,341,075 (GRCm39) Q1731* probably null Het
Igfn1 A G 1: 135,894,918 (GRCm39) Y1883H possibly damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Lnx1 T C 5: 74,766,750 (GRCm39) T455A probably benign Het
Mast2 A T 4: 116,170,926 (GRCm39) H612Q probably damaging Het
Mcm9 G A 10: 53,439,440 (GRCm39) H578Y probably damaging Het
Mefv A G 16: 3,533,264 (GRCm39) S336P possibly damaging Het
Micu1 A T 10: 59,586,326 (GRCm39) H134L probably benign Het
Mrgprb2 C T 7: 48,202,116 (GRCm39) G203D possibly damaging Het
Ncapd2 T C 6: 125,147,697 (GRCm39) I1179V probably damaging Het
Nek7 C A 1: 138,462,127 (GRCm39) C79F probably damaging Het
Nup210l A T 3: 90,100,361 (GRCm39) R1462S possibly damaging Het
Or14j6 A T 17: 38,214,500 (GRCm39) H21L probably benign Het
Or51f1 A G 7: 102,505,824 (GRCm39) C222R probably damaging Het
Or5b119 G A 19: 13,456,806 (GRCm39) S252L probably benign Het
Pcnx3 A G 19: 5,733,808 (GRCm39) probably benign Het
Pi4ka A G 16: 17,103,145 (GRCm39) probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptprb A G 10: 116,177,399 (GRCm39) N1320S probably benign Het
Ralgapa2 C T 2: 146,277,884 (GRCm39) V426I probably damaging Het
Rhobtb2 T C 14: 70,031,488 (GRCm39) T546A possibly damaging Het
Robo1 A G 16: 72,821,226 (GRCm39) D1331G probably damaging Het
Sgcz A G 8: 37,993,346 (GRCm39) probably benign Het
Slc26a1 T C 5: 108,821,448 (GRCm39) D147G possibly damaging Het
Slc44a5 A G 3: 153,877,209 (GRCm39) D13G probably benign Het
Slco1a1 A T 6: 141,868,833 (GRCm39) M377K probably damaging Het
St18 T A 1: 6,873,117 (GRCm39) L284Q probably damaging Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tec T C 5: 72,939,520 (GRCm39) probably null Het
Tln2 G A 9: 67,277,911 (GRCm39) P368S probably damaging Het
Tmem131l C A 3: 83,817,726 (GRCm39) C1257F probably damaging Het
Tmf1 C A 6: 97,153,167 (GRCm39) R302L probably damaging Het
Tnip3 A T 6: 65,574,379 (GRCm39) T137S possibly damaging Het
Trim30d C T 7: 104,121,728 (GRCm39) G339D probably damaging Het
Tspan32 T A 7: 142,560,735 (GRCm39) M61K probably damaging Het
Ttc6 T C 12: 57,744,238 (GRCm39) V1290A probably benign Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Vmn2r95 T A 17: 18,660,358 (GRCm39) Y257N possibly damaging Het
Vps13d A G 4: 144,875,450 (GRCm39) S1686P probably damaging Het
Wdr41 A G 13: 95,133,571 (GRCm39) E75G 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
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
R7386:Or5al1 UTSW 2 85,989,874 (GRCm39) missense possibly damaging 0.83
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'- TGTTGAAGCCAGCAATGATTAGC -3'
(R):5'- AACCCACCTGGCTTTTATTGAC -3'

Sequencing Primer
(F):5'- GCAACATCAGCTCTTTGACATGAGTG -3'
(R):5'- CACTCTGGTGAATTTTCTACGTGAAG -3'
Posted On 2015-04-17