Incidental Mutation 'R5399:Olfr1204'
ID429837
Institutional Source Beutler Lab
Gene Symbol Olfr1204
Ensembl Gene ENSMUSG00000061798
Gene Nameolfactory receptor 1204
SynonymsGA_x6K02T2Q125-50322618-50323547, MOR232-6
MMRRC Submission 042970-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #R5399 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location88849292-88857920 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 88852655 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 235 (L235H)
Ref Sequence ENSEMBL: ENSMUSP00000150111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078631] [ENSMUST00000213283]
Predicted Effect probably damaging
Transcript: ENSMUST00000078631
AA Change: L235H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077701
Gene: ENSMUSG00000061798
AA Change: L235H

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.5e-48 PFAM
Pfam:7tm_1 39 285 1.8e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213283
AA Change: L235H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik G T 2: 152,440,868 L214F probably damaging Het
Abcb1b T C 5: 8,827,410 S657P probably benign Het
Abcb5 T A 12: 118,911,499 Y646F probably benign Het
Agl A T 3: 116,781,628 L620Q probably damaging Het
Anapc15 C T 7: 101,898,603 P68L probably damaging Het
Arhgap23 A G 11: 97,500,917 N1420S probably damaging Het
Arntl2 T G 6: 146,822,661 D350E probably damaging Het
Barx2 A G 9: 31,854,111 probably null Het
Birc6 C A 17: 74,604,578 S28R possibly damaging Het
Btbd19 G A 4: 117,123,760 A104V probably damaging Het
Casp4 A T 9: 5,324,928 K247* probably null Het
Clk4 T C 11: 51,275,257 Y17H probably damaging Het
Cntnap1 A G 11: 101,183,316 Q722R probably benign Het
Col6a6 A G 9: 105,709,107 V1905A possibly damaging Het
Csmd1 C A 8: 16,710,597 G174V probably damaging Het
Cul1 T A 6: 47,485,084 probably null Het
Cux1 T C 5: 136,252,604 E568G possibly damaging Het
Dnaaf2 A G 12: 69,196,742 I515T probably damaging Het
Fbn1 T C 2: 125,332,333 I1868V possibly damaging Het
Fcgbp G T 7: 28,105,055 V1863L probably benign Het
G2e3 T C 12: 51,357,194 probably null Het
Gabrr2 T C 4: 33,071,458 probably null Het
Gad1-ps G A 10: 99,445,147 noncoding transcript Het
Gbgt1 C T 2: 28,503,218 P106L probably damaging Het
Gm13023 T C 4: 143,795,032 F406S probably benign Het
Gm6657 A C 12: 78,197,453 N60T probably damaging Het
Gm7102 C T 19: 61,175,926 G24R unknown Het
Golga3 A G 5: 110,205,024 E927G probably damaging Het
Hfm1 T A 5: 106,917,562 I84F possibly damaging Het
Htt G T 5: 34,877,151 D1989Y probably damaging Het
Ihh C T 1: 74,946,277 A350T probably benign Het
Irx4 G C 13: 73,265,539 A43P probably benign Het
Itk A G 11: 46,338,111 V414A probably benign Het
Itsn2 A T 12: 4,653,535 I744L probably benign Het
Kdm5b G A 1: 134,622,098 probably null Het
Kif14 A G 1: 136,503,324 D1153G probably benign Het
Morc3 A G 16: 93,862,539 probably null Het
Msc A T 1: 14,755,556 C65S probably benign Het
Mybpc1 A G 10: 88,523,014 V343A probably damaging Het
Myo5c T C 9: 75,288,074 I1218T possibly damaging Het
Mypn C T 10: 63,120,186 V1163I probably benign Het
Obox3 A T 7: 15,626,288 M152K probably benign Het
Olfr1 AGCGGTCGTAGGC AGC 11: 73,395,654 probably null Het
Olfr1264 T A 2: 90,021,923 T48S probably benign Het
Olfr328 A G 11: 58,552,143 V32A probably benign Het
Pcdhb21 G T 18: 37,515,719 V634L probably benign Het
Ppp1r9b G A 11: 94,992,148 A201T probably benign Het
Prss23 A T 7: 89,509,966 D298E probably benign Het
Rab4b A T 7: 27,176,162 N31K probably benign Het
Ros1 A G 10: 52,090,944 probably null Het
Rragb G A X: 153,140,554 G24E probably damaging Het
Rtl1 A T 12: 109,590,302 L1701Q probably damaging Het
Sbno1 T A 5: 124,392,741 N831Y probably benign Het
Selp A G 1: 164,126,586 K152E possibly damaging Het
Sema4b A G 7: 80,224,886 T675A probably benign Het
Slc36a3 T C 11: 55,146,180 I100V possibly damaging Het
Slco1a4 T A 6: 141,830,707 I196F probably damaging Het
Spata13 G A 14: 60,747,541 S828N probably benign Het
Stard13 A T 5: 151,047,801 Y643* probably null Het
Tll1 T C 8: 64,085,488 H374R probably damaging Het
Trmt10a T A 3: 138,147,504 I42K probably damaging Het
Trmu A T 15: 85,896,408 probably null Het
Trp53 T A 11: 69,588,546 D183E probably benign Het
Ttc22 T G 4: 106,636,757 F305V probably damaging Het
Unc13c A G 9: 73,749,688 F1077S possibly damaging Het
Utrn T A 10: 12,640,983 Q2289L probably damaging Het
Vmn1r65 C A 7: 6,008,810 E142* probably null Het
Vmn2r63 A T 7: 42,928,277 V279D probably benign Het
Zfp810 G A 9: 22,278,829 T261I possibly damaging Het
Zkscan17 A G 11: 59,502,918 probably null Het
Other mutations in Olfr1204
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01461:Olfr1204 APN 2 88852325 missense probably damaging 0.99
R1583:Olfr1204 UTSW 2 88852262 missense probably damaging 1.00
R2151:Olfr1204 UTSW 2 88852784 missense probably damaging 1.00
R2153:Olfr1204 UTSW 2 88852784 missense probably damaging 1.00
R4959:Olfr1204 UTSW 2 88852172 missense possibly damaging 0.79
R4973:Olfr1204 UTSW 2 88852172 missense possibly damaging 0.79
R5048:Olfr1204 UTSW 2 88852463 missense possibly damaging 0.91
R5164:Olfr1204 UTSW 2 88852570 missense probably benign 0.30
R5319:Olfr1204 UTSW 2 88852778 missense probably damaging 0.99
R5688:Olfr1204 UTSW 2 88852679 missense probably benign 0.07
R6339:Olfr1204 UTSW 2 88852871 missense probably null
R6481:Olfr1204 UTSW 2 88852519 missense probably damaging 1.00
R7456:Olfr1204 UTSW 2 88852219 missense probably damaging 0.99
R7469:Olfr1204 UTSW 2 88852503 missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGGCCCTAATGTCATAGACCAC -3'
(R):5'- TCTGAAGACACATGACTGTTCC -3'

Sequencing Primer
(F):5'- GCCCTAATGTCATAGACCACTTTATG -3'
(R):5'- CCAAATGGCATTTTTCATCTGAGC -3'
Posted On2016-09-06