Incidental Mutation 'IGL02899:Or5ac21'
ID 363495
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5ac21
Ensembl Gene ENSMUSG00000068182
Gene Name olfactory receptor family 5 subfamily AC member 21
Synonyms GA_x54KRFPKG5P-55517445-55518365, Olfr203, MOR182-5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # IGL02899
Quality Score
Status
Chromosome 16
Chromosomal Location 59123518-59124438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 59123649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 44 (L44F)
Ref Sequence ENSEMBL: ENSMUSP00000149906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089305] [ENSMUST00000201687] [ENSMUST00000215893]
AlphaFold L7N205
Predicted Effect probably damaging
Transcript: ENSMUST00000089305
AA Change: L45F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086719
Gene: ENSMUSG00000068182
AA Change: L45F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1e-46 PFAM
Pfam:7tm_1 41 290 7.6e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000201687
AA Change: L44F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144622
Gene: ENSMUSG00000048810
AA Change: L44F

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 3.4e-46 PFAM
Pfam:7tm_1 40 289 1.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215893
AA Change: L44F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,710,971 (GRCm39) probably benign Het
Btbd7 A G 12: 102,803,921 (GRCm39) L373P probably damaging Het
Capn3 A G 2: 120,322,382 (GRCm39) N414S possibly damaging Het
Ccdc186 A T 19: 56,781,920 (GRCm39) I753N probably benign Het
Ccser2 G A 14: 36,662,716 (GRCm39) T156I probably benign Het
Celsr1 A G 15: 85,915,927 (GRCm39) M682T probably damaging Het
Cep97 C A 16: 55,738,903 (GRCm39) S267I probably damaging Het
Dhx35 A G 2: 158,643,370 (GRCm39) Y39C probably damaging Het
Dscam A T 16: 96,510,447 (GRCm39) D937E probably damaging Het
Elmod2 A G 8: 84,043,562 (GRCm39) Y202H probably damaging Het
Fyco1 T C 9: 123,659,396 (GRCm39) N260S possibly damaging Het
Gm5591 A G 7: 38,218,842 (GRCm39) L677P probably damaging Het
Gmppa A G 1: 75,418,474 (GRCm39) probably null Het
Hltf C T 3: 20,153,981 (GRCm39) T639I probably damaging Het
Inhca C A 9: 103,154,773 (GRCm39) V173L probably damaging Het
Kpnb1 T C 11: 97,066,612 (GRCm39) Y321C probably damaging Het
Lgr4 G A 2: 109,748,598 (GRCm39) G45R probably damaging Het
Ltn1 T C 16: 87,179,547 (GRCm39) D1538G probably benign Het
Maf1 T A 15: 76,237,220 (GRCm39) probably benign Het
Morn5 T C 2: 35,945,049 (GRCm39) F91S probably damaging Het
Ncan C T 8: 70,567,698 (GRCm39) R138H possibly damaging Het
Or10ak7 A T 4: 118,791,859 (GRCm39) M62K probably damaging Het
Parg T C 14: 31,960,531 (GRCm39) L82S probably damaging Het
Ppp2r2b A T 18: 42,778,874 (GRCm39) H417Q probably damaging Het
Rb1cc1 T C 1: 6,334,807 (GRCm39) L98P probably damaging Het
Ryr1 C A 7: 28,748,220 (GRCm39) V3752L possibly damaging Het
Slc25a12 A G 2: 71,109,979 (GRCm39) L489P probably damaging Het
Slc38a8 C T 8: 120,212,282 (GRCm39) V354M probably benign Het
Slf2 A G 19: 44,930,459 (GRCm39) E512G probably benign Het
Tarbp1 A G 8: 127,180,583 (GRCm39) M597T probably damaging Het
Tgfb3 G A 12: 86,116,550 (GRCm39) R163C probably damaging Het
Tmco5b A G 2: 113,127,265 (GRCm39) M279V probably benign Het
Ttll9 G A 2: 152,844,871 (GRCm39) G413D probably damaging Het
Tut1 A G 19: 8,939,751 (GRCm39) D245G probably damaging Het
Usf3 T A 16: 44,041,589 (GRCm39) V2023E probably damaging Het
Vps33a C T 5: 123,669,239 (GRCm39) G554D probably damaging Het
Zfp27 C A 7: 29,595,680 (GRCm39) R95M possibly damaging Het
Other mutations in Or5ac21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02003:Or5ac21 APN 16 59,123,996 (GRCm39) missense probably damaging 0.99
IGL02294:Or5ac21 APN 16 59,123,975 (GRCm39) missense probably damaging 1.00
IGL02412:Or5ac21 APN 16 59,123,555 (GRCm39) missense probably damaging 1.00
R0792:Or5ac21 UTSW 16 59,124,352 (GRCm39) missense probably damaging 0.99
R1551:Or5ac21 UTSW 16 59,123,766 (GRCm39) missense probably benign 0.03
R1701:Or5ac21 UTSW 16 59,123,651 (GRCm39) missense probably benign 0.23
R1975:Or5ac21 UTSW 16 59,124,091 (GRCm39) missense probably damaging 0.98
R2272:Or5ac21 UTSW 16 59,123,807 (GRCm39) missense possibly damaging 0.55
R5199:Or5ac21 UTSW 16 59,124,103 (GRCm39) missense probably benign
R5843:Or5ac21 UTSW 16 59,123,724 (GRCm39) missense probably damaging 1.00
R5928:Or5ac21 UTSW 16 59,123,521 (GRCm39) missense probably damaging 1.00
R6708:Or5ac21 UTSW 16 59,124,416 (GRCm39) missense probably damaging 1.00
R6747:Or5ac21 UTSW 16 59,124,004 (GRCm39) missense probably benign 0.03
R6894:Or5ac21 UTSW 16 59,124,142 (GRCm39) missense probably damaging 0.98
R7324:Or5ac21 UTSW 16 59,123,611 (GRCm39) missense probably benign
R7380:Or5ac21 UTSW 16 59,124,391 (GRCm39) missense probably damaging 1.00
R7612:Or5ac21 UTSW 16 59,123,990 (GRCm39) missense probably damaging 1.00
R7775:Or5ac21 UTSW 16 59,123,614 (GRCm39) missense probably damaging 1.00
R8010:Or5ac21 UTSW 16 59,123,867 (GRCm39) missense probably damaging 1.00
R8408:Or5ac21 UTSW 16 59,124,418 (GRCm39) nonsense probably null
R8424:Or5ac21 UTSW 16 59,123,772 (GRCm39) missense possibly damaging 0.60
R8746:Or5ac21 UTSW 16 59,123,973 (GRCm39) missense probably benign 0.03
Z1176:Or5ac21 UTSW 16 59,123,532 (GRCm39) missense probably benign 0.01
Posted On 2015-12-18