Incidental Mutation 'IGL02412:Or5ac21'
ID 294368
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: 0.140) question?
Stock # IGL02412
Quality Score
Status
Chromosome 16
Chromosomal Location 59123518-59124438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59123555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 13 (L13H)
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: L14H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086719
Gene: ENSMUSG00000068182
AA Change: L14H

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: L13H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144622
Gene: ENSMUSG00000048810
AA Change: L13H

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: L13H

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T A 6: 85,605,854 (GRCm39) F2032L possibly damaging Het
Caps2 T C 10: 112,039,941 (GRCm39) probably null Het
Ccdc88b A T 19: 6,824,012 (GRCm39) F1414I probably damaging Het
Cr1l T G 1: 194,797,080 (GRCm39) Y319S probably damaging Het
Cr1l C T 1: 194,797,074 (GRCm39) G283E probably damaging Het
Csmd2 G A 4: 128,407,165 (GRCm39) probably benign Het
Dhx37 T A 5: 125,508,692 (GRCm39) K81M probably damaging Het
Dzip3 T A 16: 48,778,820 (GRCm39) M326L probably benign Het
Exosc10 A G 4: 148,652,849 (GRCm39) D488G probably benign Het
Gm2058 G A 7: 39,238,457 (GRCm39) noncoding transcript Het
Gm43638 T A 5: 87,633,995 (GRCm39) Q204L possibly damaging Het
Gm4847 T C 1: 166,469,307 (GRCm39) D119G probably damaging Het
Gnb3 A C 6: 124,814,425 (GRCm39) M120R probably benign Het
Il16 A C 7: 83,301,899 (GRCm39) D74E probably benign Het
Kpna1 T C 16: 35,851,561 (GRCm39) F382L probably benign Het
Krt33a G T 11: 99,902,805 (GRCm39) Q340K probably benign Het
Lrrc17 T A 5: 21,765,877 (GRCm39) S120T possibly damaging Het
Mapk3 C A 7: 126,362,210 (GRCm39) Y56* probably null Het
Mfhas1 C T 8: 36,055,969 (GRCm39) A148V probably benign Het
Npr2 A G 4: 43,647,005 (GRCm39) I713V probably damaging Het
Obp1a T A X: 77,131,980 (GRCm39) Y108F probably damaging Het
Or51f1d A T 7: 102,701,359 (GRCm39) M285L probably benign Het
Or6n1 T C 1: 173,916,809 (GRCm39) F68L probably benign Het
Or7e178 T A 9: 20,225,935 (GRCm39) S86C probably benign Het
Pias1 A T 9: 62,800,421 (GRCm39) N430K probably benign Het
Ralgapa2 G T 2: 146,254,052 (GRCm39) A836D probably damaging Het
Rftn2 T C 1: 55,245,497 (GRCm39) E238G probably benign Het
Samt4 T G X: 153,267,118 (GRCm39) S86A probably damaging Het
Setd2 T C 9: 110,379,842 (GRCm39) M1219T probably benign Het
Sh3pxd2b T A 11: 32,337,992 (GRCm39) D99E probably damaging Het
Sh3rf1 A T 8: 61,825,723 (GRCm39) T573S probably benign Het
Sugct A G 13: 17,837,386 (GRCm39) W82R probably damaging Het
Syt4 T G 18: 31,576,896 (GRCm39) K153Q probably benign Het
Tbrg1 T C 9: 37,563,908 (GRCm39) probably null Het
Tex36 C T 7: 133,189,137 (GRCm39) R145K probably benign Het
Tfap2b A T 1: 19,289,427 (GRCm39) D166V probably damaging Het
Trhde T C 10: 114,322,830 (GRCm39) Y694C probably damaging Het
Trpc1 G A 9: 95,618,914 (GRCm39) L146F probably damaging Het
Ttc29 G A 8: 79,003,569 (GRCm39) E262K possibly damaging Het
Ttn A T 2: 76,547,293 (GRCm39) I32251N probably damaging Het
Ttn G T 2: 76,612,691 (GRCm39) D17129E probably benign Het
Ucma T A 2: 4,981,636 (GRCm39) I47N probably damaging Het
Vmn1r13 A T 6: 57,187,474 (GRCm39) K211M possibly damaging Het
Vmn2r95 A C 17: 18,660,218 (GRCm39) H210P probably damaging Het
Xpc T C 6: 91,476,767 (GRCm39) E444G probably benign Het
Yy1 T C 12: 108,760,023 (GRCm39) probably benign Het
Zfp217 A G 2: 169,954,422 (GRCm39) probably benign Het
Zfp318 T A 17: 46,720,043 (GRCm39) Y1080* probably null 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
IGL02899:Or5ac21 APN 16 59,123,649 (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 2015-04-16