Incidental Mutation 'R4958:Olfr1336'
Institutional Source Beutler Lab
Gene Symbol Olfr1336
Ensembl Gene ENSMUSG00000048620
Gene Nameolfactory receptor 1336
SynonymsGA_x6K02T2QGBW-3190370-3191314, MOR103-7
MMRRC Submission 042555-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R4958 (G1)
Quality Score225
Status Not validated
Chromosomal Location6456168-6466817 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 6461058 bp
Amino Acid Change Cysteine to Tyrosine at position 183 (C183Y)
Ref Sequence ENSEMBL: ENSMUSP00000150162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056120] [ENSMUST00000214301]
Predicted Effect probably damaging
Transcript: ENSMUST00000056120
AA Change: C183Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056956
Gene: ENSMUSG00000048620
AA Change: C183Y

Pfam:7tm_4 35 311 3.2e-52 PFAM
Pfam:7tm_1 45 294 2.2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214301
AA Change: C183Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd7 A G 6: 18,866,723 S81G probably benign Het
Arel1 T C 12: 84,926,304 K573R possibly damaging Het
Atf7ip C T 6: 136,606,810 R1280C probably damaging Het
Atp1a4 T A 1: 172,231,151 D909V probably damaging Het
Cdh2 T G 18: 16,627,565 probably null Het
Col6a1 A T 10: 76,723,505 I99N probably damaging Het
Dennd4c A G 4: 86,781,679 T256A probably damaging Het
Dync1h1 C A 12: 110,658,126 T3700N probably damaging Het
Ereg T C 5: 91,090,111 V152A probably damaging Het
Gm4950 T C 18: 51,865,569 T105A probably benign Het
Hsf2 T C 10: 57,501,371 I121T probably damaging Het
Kmt2a A T 9: 44,848,467 L728Q probably damaging Het
Llgl1 G T 11: 60,711,435 R768L probably benign Het
Lyst A G 13: 13,635,463 I573V probably benign Het
Macf1 G T 4: 123,475,364 T303K probably damaging Het
Map3k5 A T 10: 20,023,789 Q264L possibly damaging Het
Mboat1 T C 13: 30,224,393 S180P probably damaging Het
Mfsd6 T C 1: 52,661,024 D655G probably damaging Het
Myh2 A G 11: 67,192,959 E1521G possibly damaging Het
Nsd2 T A 5: 33,892,022 S1200R probably damaging Het
Olfr1099 T C 2: 86,959,105 M118V possibly damaging Het
Olfr633 T C 7: 103,946,601 F12L probably damaging Het
Olfr667 T C 7: 104,916,461 I278M probably damaging Het
Pbrm1 T C 14: 31,074,827 I875T probably damaging Het
Pla2g1b T A 5: 115,470,826 F26I probably damaging Het
Plscr4 A G 9: 92,484,761 N143D possibly damaging Het
Rab11fip1 G T 8: 27,154,813 R315S probably damaging Het
Rptor G A 11: 119,857,391 R727Q probably benign Het
Serac1 A T 17: 6,069,382 V91D probably benign Het
Slco1a6 C A 6: 142,145,705 G90C probably damaging Het
Sulf1 A G 1: 12,796,910 Y106C probably benign Het
Syt13 G A 2: 92,953,449 V355M probably damaging Het
Tjp1 G A 7: 65,336,102 R314* probably null Het
Tshr A G 12: 91,538,187 D633G probably damaging Het
Usp5 C G 6: 124,822,630 K318N possibly damaging Het
Znrf4 A G 17: 56,511,701 F202S probably damaging Het
Zswim8 T A 14: 20,713,465 W427R probably damaging Het
Other mutations in Olfr1336
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01889:Olfr1336 APN 7 6460503 splice site probably benign
IGL02730:Olfr1336 APN 7 6461124 missense possibly damaging 0.75
R1193:Olfr1336 UTSW 7 6460716 missense probably benign 0.14
R1582:Olfr1336 UTSW 7 6460814 missense probably benign 0.02
R1616:Olfr1336 UTSW 7 6460745 missense probably damaging 1.00
R1954:Olfr1336 UTSW 7 6461145 missense probably benign 0.11
R2889:Olfr1336 UTSW 7 6460941 missense probably damaging 1.00
R4881:Olfr1336 UTSW 7 6460754 missense probably benign 0.01
R5849:Olfr1336 UTSW 7 6460994 missense possibly damaging 0.46
R6253:Olfr1336 UTSW 7 6460548 missense probably benign 0.09
R7289:Olfr1336 UTSW 7 6460778 missense probably benign 0.00
Z1177:Olfr1336 UTSW 7 6461227 missense probably benign 0.12
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-04-27