Incidental Mutation 'R2176:Or4a75'
ID 236855
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 040178-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R2176 (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 89447924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 204 (M204K)
Ref Sequence ENSEMBL: ENSMUSP00000140045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111532] [ENSMUST00000186710] [ENSMUST00000216129] [ENSMUST00000216424]
AlphaFold A0A1L1SSZ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000099770
AA Change: M204K

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097358
Gene: ENSMUSG00000075080
AA Change: M204K

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: M204K

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140045
Gene: ENSMUSG00000110819
AA Change: M204K

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: M204K

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000216424
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a T A 5: 121,657,649 (GRCm39) Y548F probably benign Het
Armc9 T C 1: 86,127,614 (GRCm39) L83P probably damaging Het
BC051665 A T 13: 60,932,344 (GRCm39) probably benign Het
Casp3 A G 8: 47,082,791 (GRCm39) N3S probably damaging Het
Ccdc174 G A 6: 91,865,070 (GRCm39) M109I probably benign Het
Ccr6 T A 17: 8,475,073 (GRCm39) F93I probably damaging Het
Clvs2 T C 10: 33,471,811 (GRCm39) S165G probably damaging Het
Cntnap5c T C 17: 58,320,941 (GRCm39) V171A probably benign Het
Dennd5a C A 7: 109,504,327 (GRCm39) probably null Het
Dock2 T A 11: 34,586,044 (GRCm39) Y546F probably benign Het
Fat2 A G 11: 55,158,401 (GRCm39) probably null Het
Focad T A 4: 88,197,481 (GRCm39) Y625N unknown Het
Fyb1 A G 15: 6,609,435 (GRCm39) K3E probably damaging Het
Gm14496 G A 2: 181,633,130 (GRCm39) D38N probably benign Het
Gm20403 T C 12: 55,033,155 (GRCm39) T54A probably benign Het
Gm9830 A G 9: 44,375,556 (GRCm39) noncoding transcript Het
Hectd1 A T 12: 51,792,277 (GRCm39) S2487R probably damaging Het
Il5ra A G 6: 106,715,233 (GRCm39) L175S probably benign Het
Inhca A G 9: 103,136,566 (GRCm39) probably benign Het
Itgav C T 2: 83,633,599 (GRCm39) R983C probably damaging Het
Kcna10 T C 3: 107,102,032 (GRCm39) V221A probably damaging Het
Kif13b G A 14: 64,907,120 (GRCm39) V35I probably benign Het
Kif6 G A 17: 50,062,258 (GRCm39) E473K probably damaging Het
Mfsd14a T C 3: 116,426,042 (GRCm39) T452A probably benign Het
Mllt1 A G 17: 57,204,398 (GRCm39) S382P probably benign Het
Myo15b T C 11: 115,757,398 (GRCm39) W1083R probably damaging Het
Nell2 T C 15: 95,333,038 (GRCm39) I174V probably damaging Het
Noct G A 3: 51,157,117 (GRCm39) probably null Het
Nvl A T 1: 180,962,639 (GRCm39) probably benign Het
Ofcc1 T C 13: 40,250,595 (GRCm39) S574G probably benign Het
Or10a3m G A 7: 108,313,339 (GRCm39) V248I probably damaging Het
Or11h4 T C 14: 50,973,681 (GRCm39) M313V probably benign Het
Pip5k1a A T 3: 94,972,807 (GRCm39) S415T probably damaging Het
Pkhd1 G A 1: 20,623,741 (GRCm39) P785S probably damaging Het
Plcg2 A G 8: 118,339,733 (GRCm39) Y1048C probably damaging Het
Ppp3cb A T 14: 20,570,720 (GRCm39) V337E probably benign Het
Prkg2 T C 5: 99,114,368 (GRCm39) probably benign Het
Prl7a2 T G 13: 27,843,089 (GRCm39) Y238S probably benign Het
Psg28 T A 7: 18,161,804 (GRCm39) D233V probably damaging Het
Rad50 A G 11: 53,589,036 (GRCm39) C221R probably benign Het
Rgl3 A G 9: 21,887,254 (GRCm39) probably benign Het
Rgsl1 T A 1: 153,701,014 (GRCm39) probably benign Het
Ror1 C A 4: 100,299,071 (GRCm39) R815S probably damaging Het
Rrp1b C A 17: 32,275,534 (GRCm39) D360E probably benign Het
Ryr3 T C 2: 112,496,680 (GRCm39) Q3682R possibly damaging Het
Sdr42e1 A T 8: 118,389,616 (GRCm39) F342I possibly damaging Het
Setd5 A G 6: 113,128,114 (GRCm39) R1337G probably benign Het
Siglecf T C 7: 43,001,140 (GRCm39) V36A probably damaging Het
Slc4a5 G A 6: 83,239,542 (GRCm39) G152D probably damaging Het
Sptbn4 T G 7: 27,063,587 (GRCm39) M2280L probably benign Het
Syngr2 T C 11: 117,703,406 (GRCm39) I74T probably damaging Het
Tm9sf1 T C 14: 55,878,866 (GRCm39) I175M possibly damaging Het
Tmc3 A G 7: 83,258,516 (GRCm39) E502G probably damaging Het
Tph1 T A 7: 46,311,463 (GRCm39) D88V possibly damaging Het
Tpr A G 1: 150,295,691 (GRCm39) K979E possibly damaging Het
Usp47 A G 7: 111,691,934 (GRCm39) T799A probably benign Het
Utf1 A G 7: 139,523,920 (GRCm39) E45G possibly damaging Het
Vmn1r208 A T 13: 22,956,772 (GRCm39) C242S probably damaging Het
Wrnip1 T C 13: 33,004,223 (GRCm39) I498T probably damaging Het
Ypel2 T A 11: 86,862,699 (GRCm39) H18L probably benign Het
Zan T G 5: 137,420,110 (GRCm39) D2849A unknown Het
Zfp647 A T 15: 76,795,860 (GRCm39) F267I probably damaging Het
Zfp786 G T 6: 47,797,905 (GRCm39) H344Q possibly damaging Het
Zswim3 G T 2: 164,662,614 (GRCm39) A365S probably benign Het
Zswim5 T C 4: 116,830,238 (GRCm39) W538R 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
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'- TTGGAAAGTTGGAGATAGGTCTAAC -3'
(R):5'- TCTGACCATAATGAAACGGCAGG -3'

Sequencing Primer
(F):5'- AGTTGGAGATAGGTCTAACATACATG -3'
(R):5'- CAGGTTTGCATTCTCTTGGTG -3'
Posted On 2014-10-02