Incidental Mutation 'R9398:Or56a4'
ID 710942
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R9398 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 104805949-104806887 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 104806006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 294 (Y294*)
Ref Sequence ENSEMBL: ENSMUSP00000149627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060893] [ENSMUST00000215552] [ENSMUST00000215744] [ENSMUST00000217136]
AlphaFold Q7TRN8
Predicted Effect probably null
Transcript: ENSMUST00000060893
AA Change: Y294*
SMART Domains Protein: ENSMUSP00000055880
Gene: ENSMUSG00000047225
AA Change: Y294*

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 null
Transcript: ENSMUST00000215552
AA Change: Y294*
Predicted Effect probably null
Transcript: ENSMUST00000215744
AA Change: Y294*
Predicted Effect probably null
Transcript: ENSMUST00000217136
AA Change: Y294*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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
Acvrl1 A T 15: 101,034,924 (GRCm39) K228* probably null Het
Adrb2 T C 18: 62,312,276 (GRCm39) D183G probably benign Het
Ap1m2 A G 9: 21,216,935 (GRCm39) Y134H probably damaging Het
Arid5a A G 1: 36,358,073 (GRCm39) T217A probably benign Het
Cdnf C T 2: 3,522,075 (GRCm39) T89I possibly damaging Het
Cntnap3 G A 13: 65,051,648 (GRCm39) R3W probably benign Het
Col6a6 A G 9: 105,651,825 (GRCm39) I1062T probably benign Het
Ctss T C 3: 95,454,258 (GRCm39) F270S possibly damaging Het
Ddhd1 C T 14: 45,895,117 (GRCm39) G118R possibly damaging Het
Ddx11 A G 17: 66,436,912 (GRCm39) K69E probably benign Het
Dgkb G A 12: 38,189,657 (GRCm39) G328D probably damaging Het
Dock1 C T 7: 134,774,228 (GRCm39) T1852M probably damaging Het
Gm19410 T C 8: 36,272,356 (GRCm39) Y1346H probably benign Het
Gprin1 G T 13: 54,887,383 (GRCm39) T297N probably damaging Het
Gramd1c A G 16: 43,833,381 (GRCm39) F187S probably damaging Het
Gse1 A G 8: 121,303,074 (GRCm39) N1072D unknown Het
Gtf3c6 G A 10: 40,133,520 (GRCm39) probably benign Het
Hipk3 T A 2: 104,263,562 (GRCm39) T897S probably benign Het
Igsf21 T A 4: 139,973,762 (GRCm39) probably benign Het
Itgb1 A G 8: 129,452,605 (GRCm39) I757V probably damaging Het
Lamb2 C T 9: 108,364,366 (GRCm39) R1102W possibly damaging Het
Lzts2 T G 19: 45,013,208 (GRCm39) C374W unknown Het
Mapk10 A T 5: 103,061,152 (GRCm39) S462T probably damaging Het
Mtcl1 A T 17: 66,755,462 (GRCm39) D293E possibly damaging Het
Nf1 T G 11: 79,438,018 (GRCm39) H109Q probably damaging Het
Nlrp9b T C 7: 19,783,435 (GRCm39) L926P probably damaging Het
Notch2 G A 3: 98,009,668 (GRCm39) D532N probably damaging Het
Olfm4 A T 14: 80,249,249 (GRCm39) Y122F probably benign Het
Or52e19b T A 7: 103,032,487 (GRCm39) T241S probably damaging Het
Or52r1 A G 7: 102,537,000 (GRCm39) M120T probably damaging Het
Or5g24-ps1 T C 2: 85,464,367 (GRCm39) V198A probably benign Het
Or5p76 T C 7: 108,123,035 (GRCm39) T41A probably damaging Het
Or5t18 A G 2: 86,637,160 (GRCm39) L61P possibly damaging Het
P2rx2 A T 5: 110,488,138 (GRCm39) M472K probably benign Het
Pbxip1 A G 3: 89,354,941 (GRCm39) K487E probably benign Het
Plxnb2 A G 15: 89,045,122 (GRCm39) V1108A probably benign Het
Polq A G 16: 36,881,394 (GRCm39) N1186S probably benign Het
Por T A 5: 135,754,597 (GRCm39) W6R unknown Het
Prex2 G A 1: 11,207,028 (GRCm39) V529I probably benign Het
Rgs6 T G 12: 82,698,615 (GRCm39) S5A probably benign Het
Rp9 G T 9: 22,360,082 (GRCm39) S171* probably null Het
Sec11c T A 18: 65,942,568 (GRCm39) I47N possibly damaging Het
Sh2b1 GCCACGGGGACCAGCTC GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC 7: 126,066,756 (GRCm39) probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sh2b1 GACCAGCTCAGCCACGGG GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG 7: 126,066,746 (GRCm39) probably benign Het
Slco1a8 A G 6: 141,940,511 (GRCm39) S137P possibly damaging Het
Sorcs1 A G 19: 50,213,651 (GRCm39) M692T possibly damaging Het
Sult1d1 T A 5: 87,713,954 (GRCm39) Q30L probably benign Het
Tcea2 A G 2: 181,322,243 (GRCm39) D15G probably damaging Het
Tep1 T C 14: 51,066,429 (GRCm39) S2344G possibly damaging Het
Ttc6 T A 12: 57,784,404 (GRCm39) Y1824* probably null Het
Ubqln5 T C 7: 103,777,985 (GRCm39) T280A probably benign Het
Ush1c T C 7: 45,869,934 (GRCm39) R342G probably benign Het
Vmn1r185 T A 7: 26,311,056 (GRCm39) I150F probably benign Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn1r86 A G 7: 12,836,261 (GRCm39) M205T probably damaging Het
Vps13d A T 4: 144,896,956 (GRCm39) Y321* probably null 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
R3831:Or56a4 UTSW 7 104,806,589 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- GTGAATGTTTCTTATGCTGCCTAAG -3'
(R):5'- GTTGTGCTCAGGATCAAAGCAG -3'

Sequencing Primer
(F):5'- GCTGCCTAAGATGTTTATAAAAACC -3'
(R):5'- GGAGCTGTGGCCAAAGC -3'
Posted On 2022-04-18