Incidental Mutation 'R3831:Or56a4'
ID 273997
Institutional Source Beutler Lab
Gene Symbol Or56a4
Ensembl Gene ENSMUSG00000047225
Gene Name olfactory receptor family 56 subfamily A member 4
Synonyms GA_x6K02T2PBJ9-7786441-7785503, Olfr684, MOR40-8P
MMRRC Submission 040777-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R3831 (G1)
Quality Score 205
Status Not validated
Chromosome 7
Chromosomal Location 104805949-104806887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104806589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 100 (F100S)
Ref Sequence ENSEMBL: ENSMUSP00000150107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060893] [ENSMUST00000215552] [ENSMUST00000215744] [ENSMUST00000217136]
AlphaFold Q7TRN8
Predicted Effect probably damaging
Transcript: ENSMUST00000060893
AA Change: F100S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055880
Gene: ENSMUSG00000047225
AA Change: F100S

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 4.6e-73 PFAM
Pfam:7TM_GPCR_Srsx 37 307 7e-8 PFAM
Pfam:7tm_1 43 294 1.7e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215552
AA Change: F100S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215744
AA Change: F100S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217136
AA Change: F100S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,880,992 (GRCm39) T527A unknown Het
Bcat1 T A 6: 144,955,834 (GRCm39) D349V probably damaging Het
Cacna1c A G 6: 118,581,424 (GRCm39) S1727P probably benign Het
Cacnb2 A T 2: 14,986,236 (GRCm39) I338F probably damaging Het
Cemip2 T G 19: 21,825,315 (GRCm39) S1204R probably damaging Het
Cibar2 T A 8: 120,901,633 (GRCm39) Y24F probably damaging Het
Cyb5d2 G T 11: 72,686,349 (GRCm39) S80R possibly damaging Het
Cyfip2 T C 11: 46,152,333 (GRCm39) D485G probably benign Het
Cyp27b1 G T 10: 126,886,929 (GRCm39) V382L probably damaging Het
Dpp9 A T 17: 56,506,113 (GRCm39) F429I possibly damaging Het
Frmd4b T A 6: 97,389,486 (GRCm39) K73* probably null Het
Hao1 A T 2: 134,364,925 (GRCm39) V234D probably damaging Het
Hkdc1 T C 10: 62,235,991 (GRCm39) Y517C probably benign Het
Iglv2 A T 16: 19,079,593 (GRCm39) M1K probably null Het
Inpp5j T C 11: 3,450,229 (GRCm39) D228G probably damaging Het
Itih5 A G 2: 10,256,081 (GRCm39) D849G possibly damaging Het
Itpkb T C 1: 180,161,260 (GRCm39) V462A probably benign Het
Kif26b GAAA GAA 1: 178,744,181 (GRCm39) probably null Het
Kremen1 G GGGC 11: 5,151,794 (GRCm39) probably benign Het
Lzic G C 4: 149,573,185 (GRCm39) E112D probably null Het
Mageh1 A T X: 151,820,004 (GRCm39) W111R probably damaging Het
Mapk7 A G 11: 61,380,680 (GRCm39) S641P possibly damaging Het
Mapt A T 11: 104,177,961 (GRCm39) Q38L possibly damaging Het
Med12 C A X: 100,339,498 (GRCm39) P2037Q possibly damaging Het
Med22 A G 2: 26,800,379 (GRCm39) S17P probably damaging Het
Melk C A 4: 44,345,021 (GRCm39) Q384K probably benign Het
Morc2b C T 17: 33,356,233 (GRCm39) S513N probably benign Het
Nap1l3 A G X: 121,305,995 (GRCm39) V241A possibly damaging Het
Or2t45 T A 11: 58,669,571 (GRCm39) probably null Het
Or9e1 T G 11: 58,732,686 (GRCm39) F249V probably damaging Het
Pdgfd T C 9: 6,359,762 (GRCm39) S278P probably damaging Het
Pgc C A 17: 48,040,236 (GRCm39) F93L probably null Het
Phf14 A G 6: 11,933,873 (GRCm39) probably null Het
Pja2 T C 17: 64,616,397 (GRCm39) D166G probably benign Het
Rgs5 A G 1: 169,504,470 (GRCm39) Y40C probably benign Het
Rsad1 A G 11: 94,434,130 (GRCm39) V366A probably benign Het
S100a10 T C 3: 93,471,680 (GRCm39) V88A probably damaging Het
Scarf1 T C 11: 75,406,078 (GRCm39) C121R probably damaging Het
Scn7a A G 2: 66,528,028 (GRCm39) S821P probably damaging Het
Sco1 T C 11: 66,944,605 (GRCm39) V76A probably damaging Het
Selp T A 1: 163,959,849 (GRCm39) C368* probably null Het
Sema3e T A 5: 14,276,496 (GRCm39) C294S probably damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Smarca5 A T 8: 81,455,123 (GRCm39) N199K probably damaging Het
Sorbs2 A T 8: 46,248,132 (GRCm39) D442V probably damaging Het
Specc1 T A 11: 62,008,793 (GRCm39) I183N probably damaging Het
Tcerg1 G T 18: 42,701,554 (GRCm39) R872L probably damaging Het
Tekt1 T C 11: 72,245,645 (GRCm39) N170S probably benign Het
Thsd1 T G 8: 22,733,132 (GRCm39) S60A possibly damaging Het
Usp24 T C 4: 106,219,209 (GRCm39) probably null Het
Usp28 A G 9: 48,946,938 (GRCm39) T505A probably benign Het
Zcchc17 T C 4: 130,232,317 (GRCm39) D62G probably benign Het
Zfp445 T G 9: 122,681,541 (GRCm39) E800A probably damaging Het
Zranb1 C T 7: 132,584,505 (GRCm39) A591V probably damaging Het
Other mutations in Or56a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Or56a4 APN 7 104,806,667 (GRCm39) missense probably benign 0.02
R0056:Or56a4 UTSW 7 104,806,329 (GRCm39) missense probably benign 0.19
R1773:Or56a4 UTSW 7 104,806,190 (GRCm39) missense probably benign 0.01
R2098:Or56a4 UTSW 7 104,806,478 (GRCm39) missense probably benign 0.03
R2295:Or56a4 UTSW 7 104,806,532 (GRCm39) missense probably benign 0.02
R4866:Or56a4 UTSW 7 104,806,514 (GRCm39) missense possibly damaging 0.95
R5058:Or56a4 UTSW 7 104,806,355 (GRCm39) missense probably damaging 1.00
R5504:Or56a4 UTSW 7 104,806,383 (GRCm39) missense probably benign 0.01
R7434:Or56a4 UTSW 7 104,806,106 (GRCm39) missense probably damaging 0.96
R7442:Or56a4 UTSW 7 104,806,289 (GRCm39) missense probably damaging 1.00
R7594:Or56a4 UTSW 7 104,806,880 (GRCm39) missense probably benign
R7759:Or56a4 UTSW 7 104,806,232 (GRCm39) missense probably damaging 1.00
R7787:Or56a4 UTSW 7 104,806,401 (GRCm39) missense probably benign 0.01
R8230:Or56a4 UTSW 7 104,806,631 (GRCm39) missense probably damaging 0.99
R8677:Or56a4 UTSW 7 104,806,775 (GRCm39) missense probably benign 0.04
R9398:Or56a4 UTSW 7 104,806,006 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGGGCATTCCGGCTTATAATG -3'
(R):5'- CCAACGATTCTGAAGCTCCC -3'

Sequencing Primer
(F):5'- TCCGGCTTATAATGAAGATAGCAGCC -3'
(R):5'- AACGATTCTGAAGCTCCCATCTCTG -3'
Posted On 2015-04-02