Incidental Mutation 'R1139:Or56a3b'
ID 95377
Institutional Source Beutler Lab
Gene Symbol Or56a3b
Ensembl Gene ENSMUSG00000095248
Gene Name olfactory receptor family 56 subfamily A member 3B
Synonyms MOR40-14, GA_x6K02T2PBJ9-7750163-7751110, Olfr681
MMRRC Submission 039212-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # R1139 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104770666-104771613 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104771180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 172 (Y172C)
Ref Sequence ENSEMBL: ENSMUSP00000150733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071242] [ENSMUST00000098157] [ENSMUST00000214399] [ENSMUST00000215517] [ENSMUST00000216247] [ENSMUST00000215564]
AlphaFold Q3SXH8
Predicted Effect probably benign
Transcript: ENSMUST00000071242
SMART Domains Protein: ENSMUSP00000071223
Gene: ENSMUSG00000059768

DomainStartEndE-ValueType
Pfam:7tm_4 23 299 1.2e-71 PFAM
Pfam:7TM_GPCR_Srsx 27 297 3.9e-10 PFAM
Pfam:7tm_1 33 283 3.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071242
Predicted Effect probably damaging
Transcript: ENSMUST00000098157
AA Change: Y172C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095760
Gene: ENSMUSG00000095248
AA Change: Y172C

DomainStartEndE-ValueType
Pfam:7tm_4 35 313 2e-72 PFAM
Pfam:7TM_GPCR_Srsx 39 311 6.1e-10 PFAM
Pfam:7tm_1 45 296 7.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214399
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215180
Predicted Effect probably damaging
Transcript: ENSMUST00000215517
AA Change: Y172C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216247
AA Change: Y172C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215564
AA Change: Y172C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.2%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G A 11: 58,179,112 (GRCm39) V149M probably damaging Het
Abcc4 A G 14: 118,738,252 (GRCm39) M1166T possibly damaging Het
Adgra3 A T 5: 50,119,097 (GRCm39) probably null Het
Alox12b A T 11: 69,055,231 (GRCm39) Q334L probably damaging Het
Bltp3a T C 17: 28,109,045 (GRCm39) F1088S possibly damaging Het
Bod1l A T 5: 41,988,814 (GRCm39) M431K possibly damaging Het
Ckap5 A G 2: 91,411,488 (GRCm39) N966D probably benign Het
Csmd3 C G 15: 47,559,232 (GRCm39) D2240H probably damaging Het
Erbin A G 13: 104,020,761 (GRCm39) F66S probably damaging Het
Mrgprh A T 17: 13,095,829 (GRCm39) N23I probably benign Het
Mst1r G T 9: 107,797,168 (GRCm39) D1346Y possibly damaging Het
Nfe2l2 A G 2: 75,507,230 (GRCm39) M290T probably benign Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Or52n20 A G 7: 104,320,098 (GRCm39) Y63C probably damaging Het
Or9k7 T C 10: 130,046,948 (GRCm39) H17R possibly damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Rpgrip1 A C 14: 52,384,678 (GRCm39) E757D probably benign Het
Scn9a T G 2: 66,335,341 (GRCm39) K1207T probably benign Het
Spata31e2 T G 1: 26,721,746 (GRCm39) I1145L probably benign Het
Ssb A G 2: 69,696,920 (GRCm39) T87A possibly damaging Het
Tfdp1 C T 8: 13,423,000 (GRCm39) R302C probably benign Het
Thbs4 T C 13: 92,911,226 (GRCm39) Y319C probably damaging Het
Tiam2 C A 17: 3,527,542 (GRCm39) Q67K possibly damaging Het
Tox3 A G 8: 90,975,497 (GRCm39) L378P probably damaging Het
Vcpip1 A T 1: 9,816,948 (GRCm39) H478Q probably damaging Het
Vmn2r124 T C 17: 18,294,052 (GRCm39) I713T possibly damaging Het
Other mutations in Or56a3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Or56a3b APN 7 104,771,614 (GRCm39) splice site probably null
IGL01664:Or56a3b APN 7 104,771,423 (GRCm39) missense probably damaging 1.00
IGL02691:Or56a3b APN 7 104,771,338 (GRCm39) missense probably damaging 1.00
IGL02839:Or56a3b APN 7 104,771,563 (GRCm39) missense probably damaging 1.00
R0533:Or56a3b UTSW 7 104,771,557 (GRCm39) missense probably benign 0.11
R1857:Or56a3b UTSW 7 104,770,751 (GRCm39) missense probably benign 0.00
R4153:Or56a3b UTSW 7 104,771,516 (GRCm39) missense probably damaging 0.99
R4391:Or56a3b UTSW 7 104,770,793 (GRCm39) missense possibly damaging 0.60
R4537:Or56a3b UTSW 7 104,776,227 (GRCm39) missense probably damaging 1.00
R4671:Or56a3b UTSW 7 104,771,513 (GRCm39) missense probably damaging 1.00
R4789:Or56a3b UTSW 7 104,771,520 (GRCm39) missense probably null 0.07
R5215:Or56a3b UTSW 7 104,775,771 (GRCm39) missense probably damaging 1.00
R6080:Or56a3b UTSW 7 104,771,116 (GRCm39) missense probably benign 0.19
R6194:Or56a3b UTSW 7 104,771,377 (GRCm39) missense probably benign 0.07
R7054:Or56a3b UTSW 7 104,771,170 (GRCm39) nonsense probably null
R7186:Or56a3b UTSW 7 104,771,473 (GRCm39) missense probably benign 0.12
R7528:Or56a3b UTSW 7 104,771,071 (GRCm39) missense probably damaging 1.00
R8035:Or56a3b UTSW 7 104,770,757 (GRCm39) missense probably damaging 1.00
R8364:Or56a3b UTSW 7 104,770,910 (GRCm39) missense probably damaging 1.00
R8433:Or56a3b UTSW 7 104,770,931 (GRCm39) missense probably damaging 1.00
R8468:Or56a3b UTSW 7 104,770,685 (GRCm39) missense probably benign
R9001:Or56a3b UTSW 7 104,771,447 (GRCm39) missense probably damaging 1.00
R9129:Or56a3b UTSW 7 104,771,223 (GRCm39) missense probably benign 0.00
R9453:Or56a3b UTSW 7 104,770,817 (GRCm39) missense
R9705:Or56a3b UTSW 7 104,770,841 (GRCm39) missense probably damaging 1.00
Z1176:Or56a3b UTSW 7 104,771,329 (GRCm39) missense probably damaging 1.00
Z1176:Or56a3b UTSW 7 104,771,327 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGGACATCATACTCTGCCTCAC -3'
(R):5'- TGGCACATCAGAAGAGACCTTCCTC -3'

Sequencing Primer
(F):5'- TTGACCTCAGAGCCATTGG -3'
(R):5'- GAGTCTCAGCACAGCTCTTAG -3'
Posted On 2014-01-05