Incidental Mutation 'R1181:Or2a56'
ID 101564
Institutional Source Beutler Lab
Gene Symbol Or2a56
Ensembl Gene ENSMUSG00000073110
Gene Name olfactory receptor family 2 subfamily A member 56
Synonyms Olfr444, MOR261-2, GA_x6K02T2P3E9-4602571-4601639
MMRRC Submission 039253-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R1181 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 42932434-42933366 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42932492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 20 (L20Q)
Ref Sequence ENSEMBL: ENSMUSP00000144691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095955] [ENSMUST00000204092]
AlphaFold Q8VFS6
Predicted Effect probably benign
Transcript: ENSMUST00000095955
AA Change: L20Q

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000093649
Gene: ENSMUSG00000073110
AA Change: L20Q

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 1e-60 PFAM
Pfam:7tm_1 40 289 6.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204092
AA Change: L20Q

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144691
Gene: ENSMUSG00000073110
AA Change: L20Q

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 8.6e-60 PFAM
Pfam:7tm_1 40 289 3.5e-26 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 97.9%
  • 10x: 93.9%
  • 20x: 84.2%
Validation Efficiency 100% (52/52)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 T A 19: 4,922,638 (GRCm39) Q64L probably benign Het
Ankrd12 T C 17: 66,349,569 (GRCm39) N88S probably benign Het
Apcdd1 A T 18: 63,070,168 (GRCm39) Y145F probably damaging Het
Bnipl C A 3: 95,152,960 (GRCm39) probably null Het
Bod1 T C 11: 31,616,943 (GRCm39) probably benign Het
Cbarp G T 10: 79,971,328 (GRCm39) H166N probably damaging Het
Cdr2l T A 11: 115,285,005 (GRCm39) I447N probably damaging Het
Cped1 T G 6: 22,215,561 (GRCm39) I698M probably damaging Het
Ecm1 G A 3: 95,642,662 (GRCm39) H404Y possibly damaging Het
Ehbp1 C T 11: 22,012,831 (GRCm39) V902I probably benign Het
Eps8 T C 6: 137,499,852 (GRCm39) Q209R possibly damaging Het
Fastk C T 5: 24,646,729 (GRCm39) probably null Het
Gm6797 T A X: 8,508,004 (GRCm39) noncoding transcript Het
Gp1ba C T 11: 70,532,253 (GRCm39) P673L probably damaging Het
Gstm1 A G 3: 107,922,127 (GRCm39) F170S probably damaging Het
Hgf G C 5: 16,823,923 (GRCm39) G707R probably damaging Het
Klhl5 T C 5: 65,320,228 (GRCm39) M594T probably damaging Het
Kyat3 A C 3: 142,443,531 (GRCm39) probably null Het
Mettl14 C T 3: 123,167,651 (GRCm39) G236S probably damaging Het
Nob1 G A 8: 108,148,122 (GRCm39) P107S probably damaging Het
Nup58 A T 14: 60,482,119 (GRCm39) probably benign Het
Or52e7 T A 7: 104,685,021 (GRCm39) N205K probably damaging Het
Or52n4b C A 7: 108,144,509 (GRCm39) T257N probably benign Het
Or5b109 C A 19: 13,212,195 (GRCm39) H194N probably benign Het
Or5d16 G A 2: 87,773,490 (GRCm39) L161F probably benign Het
Or6c65 A G 10: 129,604,033 (GRCm39) I223V probably benign Het
Pald1 A G 10: 61,183,366 (GRCm39) probably benign Het
Pds5a A T 5: 65,784,545 (GRCm39) probably null Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plekha2 A C 8: 25,549,218 (GRCm39) S189A probably benign Het
Prune2 T C 19: 17,100,469 (GRCm39) V1991A probably benign Het
Sec61g A C 11: 16,454,722 (GRCm39) probably benign Het
Serinc3 T C 2: 163,467,446 (GRCm39) K445R probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Slfn8 T C 11: 82,907,571 (GRCm39) E324G probably benign Het
Spink13 A G 18: 62,741,241 (GRCm39) probably benign Het
Tas2r121 A T 6: 132,677,132 (GRCm39) I280N probably damaging Het
Tbc1d7 T C 13: 43,306,615 (GRCm39) I242M probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tnni3k A T 3: 154,581,150 (GRCm39) H600Q probably damaging Het
Trim66 C T 7: 109,083,784 (GRCm39) probably null Het
Ttn A T 2: 76,800,047 (GRCm39) I387N probably damaging Het
Tulp3 A T 6: 128,302,915 (GRCm39) H301Q possibly damaging Het
Ubqln5 T A 7: 103,777,948 (GRCm39) Q292L probably damaging Het
Zfp454 T C 11: 50,764,413 (GRCm39) K229E probably damaging Het
Other mutations in Or2a56
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Or2a56 APN 6 42,933,370 (GRCm39) utr 3 prime probably benign
IGL02135:Or2a56 APN 6 42,932,585 (GRCm39) missense probably damaging 0.99
IGL02323:Or2a56 APN 6 42,932,917 (GRCm39) missense probably benign 0.02
IGL02398:Or2a56 APN 6 42,933,046 (GRCm39) missense probably benign 0.02
IGL02622:Or2a56 APN 6 42,932,663 (GRCm39) missense probably damaging 0.99
R0077:Or2a56 UTSW 6 42,932,707 (GRCm39) missense probably benign 0.13
R0416:Or2a56 UTSW 6 42,932,504 (GRCm39) missense probably benign
R0959:Or2a56 UTSW 6 42,932,686 (GRCm39) missense probably benign
R1347:Or2a56 UTSW 6 42,932,639 (GRCm39) missense probably damaging 1.00
R1347:Or2a56 UTSW 6 42,932,639 (GRCm39) missense probably damaging 1.00
R1604:Or2a56 UTSW 6 42,932,650 (GRCm39) missense possibly damaging 0.73
R3021:Or2a56 UTSW 6 42,933,118 (GRCm39) missense possibly damaging 0.91
R4226:Or2a56 UTSW 6 42,932,689 (GRCm39) missense probably benign
R4227:Or2a56 UTSW 6 42,932,648 (GRCm39) missense possibly damaging 0.95
R4776:Or2a56 UTSW 6 42,932,455 (GRCm39) missense probably benign 0.00
R5941:Or2a56 UTSW 6 42,932,650 (GRCm39) missense possibly damaging 0.86
R7539:Or2a56 UTSW 6 42,933,037 (GRCm39) missense possibly damaging 0.95
R7763:Or2a56 UTSW 6 42,932,723 (GRCm39) missense probably benign 0.00
R9800:Or2a56 UTSW 6 42,933,091 (GRCm39) missense probably damaging 1.00
X0063:Or2a56 UTSW 6 42,932,953 (GRCm39) missense possibly damaging 0.64
Z1176:Or2a56 UTSW 6 42,933,232 (GRCm39) missense probably benign 0.14
Z1176:Or2a56 UTSW 6 42,932,624 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGTGTCCTAAGACACAGCCAGAC -3'
(R):5'- ATCAGGCATTCTGTGCAAGCAAAAG -3'

Sequencing Primer
(F):5'- GACACAGCCAGACATTTTCTTC -3'
(R):5'- AGATTTGCCAGCATCTTAGGGAC -3'
Posted On 2014-01-15