Incidental Mutation 'R4227:Or2a56'
ID 320080
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 041047-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R4227 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 42932434-42933366 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42932648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 72 (Y72C)
Ref Sequence ENSEMBL: ENSMUSP00000144691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095955] [ENSMUST00000204092]
AlphaFold Q8VFS6
Predicted Effect possibly damaging
Transcript: ENSMUST00000095955
AA Change: Y72C

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093649
Gene: ENSMUSG00000073110
AA Change: Y72C

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 1e-60 PFAM
Pfam:7tm_1 40 289 6.1e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204092
AA Change: Y72C

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144691
Gene: ENSMUSG00000073110
AA Change: Y72C

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 8.6e-60 PFAM
Pfam:7tm_1 40 289 3.5e-26 PFAM
Meta Mutation Damage Score 0.1670 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (56/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,115,120 (GRCm39) T609A probably damaging Het
Agbl2 T G 2: 90,631,797 (GRCm39) L385R probably damaging Het
Arfgef2 A T 2: 166,709,244 (GRCm39) D1107V probably damaging Het
Arhgef5 C T 6: 43,256,432 (GRCm39) A1180V probably damaging Het
B9d1 C G 11: 61,403,483 (GRCm39) R160G probably damaging Het
Birc6 T C 17: 74,926,835 (GRCm39) probably null Het
Capn11 A G 17: 45,953,392 (GRCm39) probably null Het
Ceacam12 G T 7: 17,805,678 (GRCm39) M288I probably benign Het
Cfhr3 T A 1: 139,536,046 (GRCm39) noncoding transcript Het
Copa A G 1: 171,945,682 (GRCm39) probably benign Het
Cypt4 A G 9: 24,536,788 (GRCm39) M93V probably benign Het
Fat3 G A 9: 16,288,989 (GRCm39) T178I probably damaging Het
Gm15931 A G 7: 4,277,793 (GRCm39) noncoding transcript Het
Gm9871 A G 6: 101,773,654 (GRCm39) noncoding transcript Het
Gpsm1 T C 2: 26,229,638 (GRCm39) probably benign Het
Grhl1 A G 12: 24,661,850 (GRCm39) T510A probably benign Het
Kcnn3 A C 3: 89,428,482 (GRCm39) H236P possibly damaging Het
Kif21b T A 1: 136,081,831 (GRCm39) probably null Het
Lcn3 G T 2: 25,656,123 (GRCm39) M59I probably benign Het
Mrps27 C G 13: 99,547,848 (GRCm39) P253A probably damaging Het
Mug2 A T 6: 122,017,691 (GRCm39) D476V probably benign Het
Naca A T 10: 127,877,530 (GRCm39) probably benign Het
Naip5 A G 13: 100,349,276 (GRCm39) S1351P probably damaging Het
Odf2 A G 2: 29,791,296 (GRCm39) probably benign Het
Or4g17 A G 2: 111,209,410 (GRCm39) K22E probably benign Het
Or52ab7 A T 7: 102,978,026 (GRCm39) H111L probably damaging Het
Or5w18 T A 2: 87,633,219 (GRCm39) I162N probably damaging Het
P3h2 G T 16: 25,924,203 (GRCm39) D77E probably benign Het
Pcbp2 A G 15: 102,387,066 (GRCm39) M87V probably benign Het
Plekhg6 A G 6: 125,355,768 (GRCm39) L12P probably damaging Het
Plekhh2 A G 17: 84,874,223 (GRCm39) T503A probably benign Het
Pnpla3 C A 15: 84,063,391 (GRCm39) N256K probably benign Het
Polh A G 17: 46,483,520 (GRCm39) S582P probably benign Het
Ptprb T C 10: 116,138,130 (GRCm39) Y345H possibly damaging Het
Rasl11b T A 5: 74,358,852 (GRCm39) I119N probably damaging Het
Rnaseh2a G A 8: 85,686,702 (GRCm39) T149I possibly damaging Het
Serpina10 A G 12: 103,594,674 (GRCm39) Y182H probably damaging Het
Serpina1d A G 12: 103,733,740 (GRCm39) V188A probably benign Het
Setd1a C A 7: 127,395,819 (GRCm39) probably benign Het
Slc17a8 T C 10: 89,434,575 (GRCm39) N184S probably damaging Het
Spen C T 4: 141,249,458 (GRCm39) S110N unknown Het
Tas1r1 T C 4: 152,112,729 (GRCm39) I775V probably damaging Het
Tktl2 A G 8: 66,966,351 (GRCm39) probably null Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmprss6 C T 15: 78,330,899 (GRCm39) V43M probably damaging Het
Try5 A G 6: 41,290,401 (GRCm39) Y28H possibly damaging Het
Urad A T 5: 147,252,100 (GRCm39) F117L probably damaging Het
Vegfc A G 8: 54,612,445 (GRCm39) Y156C probably damaging Het
Vmn2r45 A T 7: 8,486,277 (GRCm39) V337E probably damaging Het
Vmn2r6 A T 3: 64,445,369 (GRCm39) F696L probably damaging Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zfp131 T C 13: 120,228,282 (GRCm39) D455G 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
R1181:Or2a56 UTSW 6 42,932,492 (GRCm39) missense probably benign 0.23
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
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'- TTCCAAGCAGACCTGAGTGTG -3'
(R):5'- AAGCCAGCTATCCAGGAGACAG -3'

Sequencing Primer
(F):5'- CAGACCTGAGTGTGGAGTG -3'
(R):5'- GGTACACACTTTCCAACTCATGATG -3'
Posted On 2015-06-12