Incidental Mutation 'R0761:Or4a75'
ID 70073
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 038941-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R0761 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89447512-89448589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89448179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 119 (D119G)
Ref Sequence ENSEMBL: ENSMUSP00000150117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111532] [ENSMUST00000186710] [ENSMUST00000216129] [ENSMUST00000216424]
AlphaFold A0A1L1SSZ5
Predicted Effect probably damaging
Transcript: ENSMUST00000099770
AA Change: D119G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097358
Gene: ENSMUSG00000075080
AA Change: D119G

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 probably damaging
Transcript: ENSMUST00000186710
AA Change: D119G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140045
Gene: ENSMUSG00000110819
AA Change: D119G

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 5.1e-28 PFAM
Pfam:7tm_4 137 278 1e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216129
AA Change: D119G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216424
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (51/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,833 (GRCm39) Y133C probably benign Het
Adcy5 G A 16: 35,091,195 (GRCm39) probably benign Het
Asb17 A G 3: 153,550,052 (GRCm39) K28R probably damaging Het
Bbs10 G T 10: 111,135,244 (GRCm39) C119F probably damaging Het
Camk2g G A 14: 20,816,280 (GRCm39) Q119* probably null Het
Cdh18 A T 15: 23,226,838 (GRCm39) I46L possibly damaging Het
Cimip2a T C 2: 25,110,135 (GRCm39) probably benign Het
Clmn T A 12: 104,747,817 (GRCm39) N577Y probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crocc T C 4: 140,774,387 (GRCm39) E63G probably benign Het
Crocc T C 4: 140,757,087 (GRCm39) T965A probably benign Het
Cryzl2 A G 1: 157,293,294 (GRCm39) I132V probably benign Het
Csgalnact2 T C 6: 118,103,073 (GRCm39) probably benign Het
Ctr9 T C 7: 110,645,479 (GRCm39) S569P probably damaging Het
Cul3 A G 1: 80,255,203 (GRCm39) probably benign Het
Dcp2 G A 18: 44,543,300 (GRCm39) S286N probably benign Het
Dgkz C T 2: 91,775,696 (GRCm39) R189H probably benign Het
Dst A G 1: 34,221,848 (GRCm39) T2551A probably benign Het
Kcna4 T A 2: 107,126,417 (GRCm39) S384T probably benign Het
Klhl17 T C 4: 156,317,204 (GRCm39) probably null Het
Kmt2e C A 5: 23,708,032 (GRCm39) S1865* probably null Het
L3mbtl1 G A 2: 162,807,967 (GRCm39) R534H probably damaging Het
Lmnb2 A T 10: 80,742,088 (GRCm39) M1K probably null Het
Lrp1b T C 2: 41,075,947 (GRCm39) D1784G probably damaging Het
Lrrc34 A G 3: 30,685,425 (GRCm39) probably null Het
Megf10 C A 18: 57,421,048 (GRCm39) Y895* probably null Het
Mesd G T 7: 83,544,951 (GRCm39) A143S probably damaging Het
Mfap3l G T 8: 61,124,615 (GRCm39) V286L possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Nek1 T A 8: 61,542,489 (GRCm39) D717E probably benign Het
Nudt12 A T 17: 59,318,064 (GRCm39) D60E probably benign Het
Nup205 C T 6: 35,173,363 (GRCm39) probably benign Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2j3 A T 17: 38,616,282 (GRCm39) H23Q probably benign Het
Or5w19 C T 2: 87,698,880 (GRCm39) P182S possibly damaging Het
Pacs2 T A 12: 113,023,688 (GRCm39) probably benign Het
Pcdha9 T A 18: 37,133,016 (GRCm39) L695* probably null Het
Pira12 A T 7: 3,896,978 (GRCm39) probably null Het
Pkd1l1 A G 11: 8,804,375 (GRCm39) S1739P probably damaging Het
Polr1e C A 4: 45,027,392 (GRCm39) D207E probably damaging Het
Polr3f T A 2: 144,376,327 (GRCm39) V142E probably damaging Het
Psma6 T A 12: 55,459,127 (GRCm39) W170R possibly damaging Het
Rev3l T C 10: 39,750,191 (GRCm39) Y3114H probably benign Het
Rps6ka5 C T 12: 100,537,141 (GRCm39) A530T probably damaging Het
Simc1 T C 13: 54,674,387 (GRCm39) Y912H probably damaging Het
Tnfrsf1b T C 4: 144,942,670 (GRCm39) D371G possibly damaging Het
Trank1 T C 9: 111,195,681 (GRCm39) V1235A probably damaging Het
Ttn T C 2: 76,577,102 (GRCm39) E24597G probably damaging Het
Ubr2 G A 17: 47,294,242 (GRCm39) P297L probably damaging Het
Unc5d A T 8: 29,186,560 (GRCm39) probably null Het
Xpo4 A G 14: 57,850,840 (GRCm39) F355L 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
R2176:Or4a75 UTSW 2 89,447,924 (GRCm39) missense possibly damaging 0.54
R3722:Or4a75 UTSW 2 89,448,503 (GRCm39) missense possibly damaging 0.88
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'- AAGCAAAATGGTCAATGACATTGGGTC -3'
(R):5'- CAGATGGTTACTGAGCAATCGCTGAG -3'

Sequencing Primer
(F):5'- GGTCCACAAAAAGGAAGTAAATACAC -3'
(R):5'- CATGTCAAGCACTGATCTTCTGAG -3'
Posted On 2013-09-30