Incidental Mutation 'R3722:Or4a75'
ID 258945
Institutional Source Beutler Lab
Gene Symbol Or4a75
Ensembl Gene ENSMUSG00000111239
Gene Name olfactory receptor family 4 subfamily A member 75
Synonyms Olfr1248, GA_x6K02T2Q125-51059648-51058725, MOR231-10
MMRRC Submission 040713-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R3722 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89447512-89448589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89448503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 11 (I11N)
Ref Sequence ENSEMBL: ENSMUSP00000150117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111532] [ENSMUST00000186710] [ENSMUST00000216129] [ENSMUST00000216424]
AlphaFold A0A1L1SSZ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000099770
AA Change: I11N

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097358
Gene: ENSMUSG00000075080
AA Change: I11N

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.5e-49 PFAM
Pfam:7tm_1 39 285 2.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111532
SMART Domains Protein: ENSMUSP00000107157
Gene: ENSMUSG00000075081

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.2e-48 PFAM
Pfam:7tm_1 39 285 1.6e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000186710
AA Change: I11N

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140045
Gene: ENSMUSG00000110819
AA Change: I11N

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 5.1e-28 PFAM
Pfam:7tm_4 137 278 1e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216129
AA Change: I11N

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000216424
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (61/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A T 10: 10,216,254 (GRCm39) S1485T probably benign Het
Akap9 A G 5: 4,120,351 (GRCm39) Y3589C probably damaging Het
Alkbh8 T C 9: 3,385,153 (GRCm39) Y482H probably damaging Het
Appl1 G A 14: 26,649,801 (GRCm39) T575M probably damaging Het
Arhgap21 T C 2: 20,855,102 (GRCm39) E1420G probably damaging Het
Asic3 A T 5: 24,621,997 (GRCm39) Y419F probably benign Het
Atg7 A G 6: 114,672,624 (GRCm39) Y279C probably damaging Het
Braf G A 6: 39,600,610 (GRCm39) P616L probably damaging Het
Btnl2 T C 17: 34,577,109 (GRCm39) M88T possibly damaging Het
C1rb T A 6: 124,557,620 (GRCm39) Y586N probably damaging Het
Cacna1s T C 1: 135,996,780 (GRCm39) F127S possibly damaging Het
Cd47 A G 16: 49,688,205 (GRCm39) I42V probably benign Het
Cox8b T A 7: 140,478,918 (GRCm39) K66* probably null Het
Diras2 T A 13: 52,662,059 (GRCm39) I83F probably damaging Het
Dlg2 T A 7: 91,361,008 (GRCm39) probably null Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Dnai1 G A 4: 41,602,615 (GRCm39) R113H probably damaging Het
Dolpp1 T C 2: 30,287,500 (GRCm39) L204P probably damaging Het
Fam170a C T 18: 50,415,271 (GRCm39) P306S probably benign Het
Fbxl12 A T 9: 20,550,268 (GRCm39) probably null Het
Fndc3a T A 14: 72,777,648 (GRCm39) I1186F probably benign Het
Gm12886 T A 4: 121,274,667 (GRCm39) D71V probably damaging Het
H3c8 T C 13: 23,719,722 (GRCm39) V36A possibly damaging Het
Ica1 A G 6: 8,659,021 (GRCm39) probably benign Het
Ighv8-11 A G 12: 115,530,771 (GRCm39) I119T possibly damaging Het
Ism1 A T 2: 139,573,931 (GRCm39) R94* probably null Het
Kbtbd11 T A 8: 15,079,118 (GRCm39) C572* probably null Het
Kcnk15 T C 2: 163,700,214 (GRCm39) L132P probably damaging Het
Lrmda T A 14: 22,077,399 (GRCm39) probably benign Het
Mei1 A G 15: 81,987,405 (GRCm39) H399R possibly damaging Het
Mrtfb C T 16: 13,203,557 (GRCm39) A201V probably damaging Het
Ncstn G A 1: 171,895,462 (GRCm39) T562M possibly damaging Het
Nudt4 A T 10: 95,385,367 (GRCm39) probably null Het
Omp T C 7: 97,794,420 (GRCm39) N69S probably benign Het
Or10d3 A C 9: 39,461,418 (GRCm39) C250G probably damaging Het
Pak1 C T 7: 97,503,704 (GRCm39) P13L probably damaging Het
Pde4d T A 13: 110,087,866 (GRCm39) C744* probably null Het
Pelp1 T C 11: 70,289,026 (GRCm39) Y240C possibly damaging Het
Pou2f1 G C 1: 165,722,538 (GRCm39) P349R probably damaging Het
Ptprk A G 10: 28,259,619 (GRCm39) D353G probably damaging Het
Ptprs A G 17: 56,724,485 (GRCm39) F1152S probably damaging Het
Rnf135 G T 11: 80,087,743 (GRCm39) A231S probably benign Het
Rpn1 G A 6: 88,067,282 (GRCm39) probably null Het
Rreb1 T A 13: 38,131,074 (GRCm39) D1409E probably benign Het
Sipa1l2 G A 8: 126,200,323 (GRCm39) H668Y probably damaging Het
Slc35a5 A T 16: 44,967,685 (GRCm39) I138N probably damaging Het
Slc35d1 T C 4: 103,065,321 (GRCm39) K187E possibly damaging Het
Slc44a2 A T 9: 21,254,273 (GRCm39) I212F possibly damaging Het
Slc7a1 G A 5: 148,272,343 (GRCm39) R445* probably null Het
Snapc4 A G 2: 26,255,440 (GRCm39) L1028P probably benign Het
Snrnp40 C T 4: 130,262,068 (GRCm39) T152I possibly damaging Het
Spata31f1a T C 4: 42,851,472 (GRCm39) E228G probably benign Het
Spink4 T A 4: 40,929,136 (GRCm39) C54S probably damaging Het
Tex2 C T 11: 106,437,566 (GRCm39) W203* probably null Het
Tmcc1 T C 6: 116,110,783 (GRCm39) E170G possibly damaging Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Ttll6 A G 11: 96,024,747 (GRCm39) N46D probably benign Het
Txk T A 5: 72,865,078 (GRCm39) K266* probably null Het
Uggt2 T C 14: 119,278,930 (GRCm39) E859G probably damaging Het
Uros A T 7: 133,304,120 (GRCm39) M1K probably null Het
Vps13b T A 15: 35,671,528 (GRCm39) I1677N probably damaging Het
Zbtb5 A G 4: 44,994,863 (GRCm39) probably null Het
Zfp760 A G 17: 21,941,143 (GRCm39) Y106C probably damaging Het
Other mutations in Or4a75
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02871:Or4a75 APN 2 89,448,504 (GRCm39) missense probably benign 0.00
PIT4431001:Or4a75 UTSW 2 89,448,201 (GRCm39) missense probably benign 0.00
R0504:Or4a75 UTSW 2 89,448,438 (GRCm39) missense probably damaging 1.00
R0761:Or4a75 UTSW 2 89,448,179 (GRCm39) missense probably damaging 1.00
R2176:Or4a75 UTSW 2 89,447,924 (GRCm39) missense possibly damaging 0.54
R4030:Or4a75 UTSW 2 89,448,207 (GRCm39) missense probably damaging 0.99
R4440:Or4a75 UTSW 2 89,448,512 (GRCm39) missense probably damaging 1.00
R4756:Or4a75 UTSW 2 89,447,814 (GRCm39) missense possibly damaging 0.86
R4981:Or4a75 UTSW 2 89,447,769 (GRCm39) missense probably damaging 1.00
R5678:Or4a75 UTSW 2 89,447,625 (GRCm39) missense probably benign
R6503:Or4a75 UTSW 2 89,447,922 (GRCm39) missense possibly damaging 0.76
R6569:Or4a75 UTSW 2 89,448,359 (GRCm39) missense possibly damaging 0.83
R6770:Or4a75 UTSW 2 89,448,206 (GRCm39) missense probably benign 0.39
R7823:Or4a75 UTSW 2 89,447,613 (GRCm39) makesense probably null
R8423:Or4a75 UTSW 2 89,448,331 (GRCm39) missense probably damaging 1.00
R8438:Or4a75 UTSW 2 89,448,054 (GRCm39) missense possibly damaging 0.60
R9046:Or4a75 UTSW 2 89,448,496 (GRCm39) unclassified probably benign
RF008:Or4a75 UTSW 2 89,447,711 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- CAACTTGGGCAAGATGGCAG -3'
(R):5'- GGAGATTCCCCAAGAGGAAC -3'

Sequencing Primer
(F):5'- TGGCAGTAGAATAAACAGCATCC -3'
(R):5'- CAGATGGTTACTGAGCAATCGC -3'
Posted On 2015-01-23