Incidental Mutation 'R1419:Olfr1234'
ID 159975
Institutional Source Beutler Lab
Gene Symbol Olfr1234
Ensembl Gene ENSMUSG00000075090
Gene Name olfactory receptor 1234
Synonyms MOR231-2, GA_x6K02T2Q125-50805620-50804676
MMRRC Submission 039475-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R1419 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 89360013-89364865 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89363322 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 36 (T36A)
Ref Sequence ENSEMBL: ENSMUSP00000149303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099783] [ENSMUST00000111543] [ENSMUST00000137692]
AlphaFold A2AVK5
Predicted Effect probably damaging
Transcript: ENSMUST00000099783
AA Change: T36A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097371
Gene: ENSMUSG00000075090
AA Change: T36A

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 5.9e-32 PFAM
Pfam:7tm_4 137 278 1.5e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111543
AA Change: T36A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107168
Gene: ENSMUSG00000075090
AA Change: T36A

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 3.2e-46 PFAM
Pfam:7tm_1 39 285 7.2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137692
AA Change: T36A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 120,374,902 M894K probably benign Het
Ablim1 C A 19: 57,134,633 C173F probably damaging Het
Abtb2 G T 2: 103,709,420 R710L probably benign Het
AI481877 T C 4: 59,064,457 T826A possibly damaging Het
Arap3 T C 18: 37,978,432 T1144A possibly damaging Het
Arhgef12 A T 9: 43,027,220 V92D probably damaging Het
Ash1l T G 3: 88,984,897 M1361R probably damaging Het
Atm A C 9: 53,457,489 N2337K probably benign Het
Cog7 T C 7: 121,955,992 E316G probably damaging Het
Dsp A G 13: 38,186,695 Y858C probably damaging Het
Enc1 G T 13: 97,246,184 G401C probably damaging Het
Gata6 T C 18: 11,064,706 V506A probably benign Het
Gm16380 C T 9: 53,884,187 noncoding transcript Het
H2-Ke6 G A 17: 34,027,643 R89C probably benign Het
Hsh2d G A 8: 72,200,460 D229N probably benign Het
Ift80 T A 3: 68,940,198 N322Y probably damaging Het
Igsf9 T A 1: 172,498,011 V1082E probably damaging Het
Katnal2 A T 18: 76,977,432 L481Q possibly damaging Het
Kcnma1 T C 14: 23,367,642 T713A probably damaging Het
Kif13a T C 13: 46,825,235 T230A probably damaging Het
Klhl14 C A 18: 21,652,193 R59L probably damaging Het
Mecom A G 3: 29,980,889 C213R probably damaging Het
Mrpl13 T A 15: 55,534,321 M178L probably benign Het
Myof T C 19: 37,901,911 E1971G probably damaging Het
Naa10 A G X: 73,917,916 V133A probably damaging Het
Nlrp4g G A 9: 124,349,434 noncoding transcript Het
Ofcc1 C T 13: 40,208,829 G206R probably benign Het
Olfr1042 A G 2: 86,159,429 *314Q probably null Het
Olfr1297 A T 2: 111,621,295 F260I probably benign Het
Oplah T C 15: 76,297,920 I1047V probably benign Het
Paip1 A G 13: 119,457,017 D189G probably damaging Het
Pkn1 A G 8: 83,673,522 F624L probably damaging Het
Plxnb1 C A 9: 109,114,386 P1899H probably damaging Het
Rpa3 T A 6: 8,257,720 E47D probably benign Het
Snai2 C T 16: 14,708,180 H232Y possibly damaging Het
Spint5 T C 2: 164,715,411 S23P possibly damaging Het
St8sia2 G A 7: 73,966,994 Q78* probably null Het
Tktl2 A G 8: 66,513,038 N416S probably damaging Het
Tm7sf3 T A 6: 146,603,977 I494F possibly damaging Het
Trf C T 9: 103,226,108 V119M probably damaging Het
Other mutations in Olfr1234
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02134:Olfr1234 APN 2 89362828 missense probably damaging 0.97
R0945:Olfr1234 UTSW 2 89363255 missense probably damaging 0.98
R1018:Olfr1234 UTSW 2 89363179 missense possibly damaging 0.95
R1872:Olfr1234 UTSW 2 89362589 missense probably damaging 1.00
R1929:Olfr1234 UTSW 2 89363009 missense probably benign 0.01
R2143:Olfr1234 UTSW 2 89363103 missense probably damaging 1.00
R3499:Olfr1234 UTSW 2 89362950 missense probably benign 0.07
R3776:Olfr1234 UTSW 2 89362764 missense possibly damaging 0.69
R4595:Olfr1234 UTSW 2 89363325 missense probably damaging 0.98
R6287:Olfr1234 UTSW 2 89363019 nonsense probably null
R7256:Olfr1234 UTSW 2 89362494 missense probably benign 0.21
R7516:Olfr1234 UTSW 2 89363375 missense probably benign 0.01
R7636:Olfr1234 UTSW 2 89363239 nonsense probably null
R7975:Olfr1234 UTSW 2 89363069 missense probably benign 0.23
R8240:Olfr1234 UTSW 2 89362552 missense probably benign 0.01
R8514:Olfr1234 UTSW 2 89363229 missense probably benign 0.06
R8680:Olfr1234 UTSW 2 89362721 missense probably benign 0.00
R8780:Olfr1234 UTSW 2 89363308 missense probably damaging 1.00
R8898:Olfr1234 UTSW 2 89362613 missense possibly damaging 0.56
R9402:Olfr1234 UTSW 2 89362779 nonsense probably null
R9434:Olfr1234 UTSW 2 89363348 missense probably benign 0.02
R9451:Olfr1234 UTSW 2 89362899 missense probably damaging 1.00
R9632:Olfr1234 UTSW 2 89362721 missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GCCACATAACGGTCATAGGCCATC -3'
(R):5'- TCTGAGTAACCAAGCATGGGAGAATTG -3'

Sequencing Primer
(F):5'- TTGAGTCATACAAGCCCGGAAG -3'
(R):5'- TGGTGAGAAAATTACCACATTATAGC -3'
Posted On 2014-03-14