Incidental Mutation 'IGL02691:Or56a3b'
ID 303732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or56a3b
Ensembl Gene ENSMUSG00000095248
Gene Name olfactory receptor family 56 subfamily A member 3B
Synonyms MOR40-14, GA_x6K02T2PBJ9-7750163-7751110, Olfr681
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # IGL02691
Quality Score
Status
Chromosome 7
Chromosomal Location 104770666-104771613 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104771338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 225 (I225V)
Ref Sequence ENSEMBL: ENSMUSP00000150733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071242] [ENSMUST00000098157] [ENSMUST00000214399] [ENSMUST00000215517] [ENSMUST00000215564] [ENSMUST00000216247]
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: I225V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095760
Gene: ENSMUSG00000095248
AA Change: I225V

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: I225V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215564
AA Change: I225V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216247
AA Change: I225V

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,655,457 (GRCm39) S40P probably benign Het
Actl9 G T 17: 33,652,092 (GRCm39) V51L probably damaging Het
Adcy6 A T 15: 98,502,185 (GRCm39) F143Y probably damaging Het
Agps A T 2: 75,722,204 (GRCm39) I465F probably benign Het
Armc3 T A 2: 19,240,295 (GRCm39) F17L probably damaging Het
Arsk A C 13: 76,223,069 (GRCm39) M176R probably damaging Het
Asz1 G A 6: 18,076,556 (GRCm39) T212I probably damaging Het
Atp6v1a A G 16: 43,931,982 (GRCm39) I102T probably damaging Het
Bpifb6 T A 2: 153,744,565 (GRCm39) L2Q unknown Het
Cad A G 5: 31,212,638 (GRCm39) Y45C probably damaging Het
Ccdc93 A G 1: 121,414,342 (GRCm39) D451G possibly damaging Het
Cenpj A G 14: 56,789,547 (GRCm39) I834T probably benign Het
Cyp2j12 C T 4: 96,021,231 (GRCm39) probably null Het
Dhx8 G A 11: 101,642,830 (GRCm39) probably benign Het
Dync1i1 A G 6: 5,800,767 (GRCm39) probably benign Het
Ell2 T A 13: 75,904,605 (GRCm39) D99E probably damaging Het
Enpp1 G T 10: 24,587,790 (GRCm39) P34T probably damaging Het
Fras1 T A 5: 96,892,564 (GRCm39) V2888E possibly damaging Het
Gmfg A G 7: 28,144,295 (GRCm39) Y40C probably damaging Het
Gnal T C 18: 67,355,746 (GRCm39) I369T probably damaging Het
Gzmn T C 14: 56,404,370 (GRCm39) T156A probably benign Het
H2-DMb2 A T 17: 34,366,832 (GRCm39) H88L probably benign Het
Ighv7-3 T C 12: 114,117,016 (GRCm39) T49A probably benign Het
Jakmip3 C T 7: 138,628,573 (GRCm39) Q450* probably null Het
Klhl20 A T 1: 160,934,444 (GRCm39) probably benign Het
Klk6 A G 7: 43,477,924 (GRCm39) T99A probably benign Het
Lhx3 A G 2: 26,093,097 (GRCm39) C118R probably damaging Het
Mapkbp1 T C 2: 119,803,655 (GRCm39) probably benign Het
Naa15 A G 3: 51,358,747 (GRCm39) E294G probably damaging Het
Nfia C T 4: 97,970,045 (GRCm39) Q373* probably null Het
Notch2 C A 3: 98,042,923 (GRCm39) Y1429* probably null Het
Oc90 A G 15: 65,754,410 (GRCm39) S252P probably damaging Het
Or8k37 T C 2: 86,469,182 (GRCm39) Y290C probably damaging Het
Pde3b T A 7: 114,107,320 (GRCm39) probably benign Het
Pdss1 G A 2: 22,805,253 (GRCm39) V211I probably benign Het
Phactr1 G T 13: 43,231,213 (GRCm39) M226I probably benign Het
Phf11c A G 14: 59,622,236 (GRCm39) S259P probably damaging Het
Phf20l1 A G 15: 66,476,713 (GRCm39) N269S probably damaging Het
Piezo1 A G 8: 123,228,688 (GRCm39) V229A possibly damaging Het
Plcb2 T C 2: 118,541,444 (GRCm39) K997R probably benign Het
Ppm1m A T 9: 106,072,568 (GRCm39) V449E probably damaging Het
Ppp1r36dn T C 12: 76,498,073 (GRCm39) noncoding transcript Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rgs14 A G 13: 55,526,836 (GRCm39) probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Scamp5 G T 9: 57,358,660 (GRCm39) R39S probably damaging Het
Slc5a6 C T 5: 31,199,518 (GRCm39) V15I probably damaging Het
Snx25 A T 8: 46,558,302 (GRCm39) V235E possibly damaging Het
Tdrd1 G T 19: 56,832,284 (GRCm39) E400D probably damaging Het
Tln1 T C 4: 43,539,544 (GRCm39) R1593G probably benign Het
Trdv2-2 T C 14: 54,199,039 (GRCm39) F110L possibly damaging Het
Ush2a A C 1: 188,466,949 (GRCm39) Y2871S probably damaging Het
Vars2 A C 17: 35,971,140 (GRCm39) L592R probably damaging Het
Vipr2 T A 12: 116,099,849 (GRCm39) C239S probably benign Het
Vmn1r200 A T 13: 22,579,428 (GRCm39) D68V probably damaging Het
Vmn1r7 A T 6: 57,001,373 (GRCm39) S296T probably benign Het
Vmn2r95 T C 17: 18,672,120 (GRCm39) I619T probably benign 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
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
R1139:Or56a3b UTSW 7 104,771,180 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16