Incidental Mutation 'R0528:Or1f12'
ID 49013
Institutional Source Beutler Lab
Gene Symbol Or1f12
Ensembl Gene ENSMUSG00000048996
Gene Name olfactory receptor family 1 subfamily F member 12
Synonyms MOR130-2, GA_x6K02T2QHY8-11707053-11707994, Olfr1366
MMRRC Submission 038720-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R0528 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 21721144-21722197 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21721416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 238 (F238S)
Ref Sequence ENSEMBL: ENSMUSP00000146107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168629] [ENSMUST00000175637] [ENSMUST00000205976] [ENSMUST00000218154]
AlphaFold A0A1W2P740
Predicted Effect possibly damaging
Transcript: ENSMUST00000168629
AA Change: F238S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132776
Gene: ENSMUSG00000048996
AA Change: F238S

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
Pfam:7tm_4 46 323 1.1e-59 PFAM
Pfam:7TM_GPCR_Srsx 50 320 4e-7 PFAM
Pfam:7tm_1 56 305 1e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000175637
AA Change: F238S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135446
Gene: ENSMUSG00000048996
AA Change: F238S

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:7TM_GPCR_Srsx 35 231 3e-7 PFAM
Pfam:7tm_1 41 237 8.7e-33 PFAM
Pfam:7tm_4 139 240 2.9e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205976
AA Change: F238S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218154
AA Change: F253S

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency 96% (65/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T G 10: 79,838,848 (GRCm39) W674G probably damaging Het
Abcc9 G A 6: 142,638,606 (GRCm39) H103Y probably damaging Het
Ano7 A G 1: 93,323,224 (GRCm39) N495S probably null Het
Aoc1l3 T A 6: 48,964,965 (GRCm39) D324E probably benign Het
Ash1l A G 3: 88,889,584 (GRCm39) N488D probably benign Het
Astn2 A G 4: 65,563,119 (GRCm39) probably benign Het
Atraid T A 5: 31,209,796 (GRCm39) probably benign Het
Baz2b T C 2: 59,767,083 (GRCm39) R866G probably damaging Het
Cep164 T A 9: 45,688,234 (GRCm39) probably benign Het
Clec4f G A 6: 83,629,776 (GRCm39) Q261* probably null Het
Cpne4 A T 9: 104,563,640 (GRCm39) N6Y probably damaging Het
Dhx38 G T 8: 110,289,293 (GRCm39) Q36K probably benign Het
Dna2 C A 10: 62,793,910 (GRCm39) Q341K probably benign Het
Dynap A G 18: 70,375,165 (GRCm39) probably benign Het
Eif3l T C 15: 78,973,809 (GRCm39) V408A probably benign Het
Foxi3 T A 6: 70,934,122 (GRCm39) I203N probably damaging Het
Gcc2 T A 10: 58,134,511 (GRCm39) L1495Q probably damaging Het
Gpr158 A G 2: 21,830,019 (GRCm39) D688G probably damaging Het
Hcfc2 C A 10: 82,575,079 (GRCm39) T246K probably damaging Het
Hdc C T 2: 126,458,152 (GRCm39) E57K probably benign Het
Iqsec3 G C 6: 121,389,743 (GRCm39) probably benign Het
Islr2 T A 9: 58,106,645 (GRCm39) E205V probably damaging Het
Klf9 T C 19: 23,119,498 (GRCm39) L127P probably benign Het
Lamc2 A T 1: 152,999,840 (GRCm39) L1173Q probably damaging Het
Lipe G A 7: 25,097,901 (GRCm39) T14I possibly damaging Het
Lnpep A G 17: 17,751,394 (GRCm39) probably benign Het
Lrrc15 A G 16: 30,092,566 (GRCm39) S258P probably damaging Het
Macc1 A T 12: 119,410,780 (GRCm39) Y516F probably benign Het
Megf6 A G 4: 154,343,630 (GRCm39) T718A probably benign Het
Mtcl2 A G 2: 156,862,612 (GRCm39) L1439P probably damaging Het
Myh1 A G 11: 67,111,445 (GRCm39) D1628G probably damaging Het
Naca C T 10: 127,879,162 (GRCm39) T1398I probably benign Het
Or2a54 A T 6: 43,093,150 (GRCm39) H158L possibly damaging Het
Padi4 A G 4: 140,496,740 (GRCm39) V52A possibly damaging Het
Paqr5 G A 9: 61,863,527 (GRCm39) T251I probably damaging Het
Pcm1 A G 8: 41,768,967 (GRCm39) D1611G probably damaging Het
Prss12 G A 3: 123,276,445 (GRCm39) R358K probably benign Het
Racgap1 A T 15: 99,526,587 (GRCm39) H325Q probably damaging Het
Rbm12b1 A G 4: 12,145,657 (GRCm39) H543R probably benign Het
Rc3h1 A T 1: 160,795,228 (GRCm39) N1076I probably damaging Het
Rp1 A G 1: 4,415,088 (GRCm39) L2008P possibly damaging Het
Rsph3a A G 17: 8,164,919 (GRCm39) H93R possibly damaging Het
Sbf1 C T 15: 89,172,915 (GRCm39) R1840H probably damaging Het
Skic8 T A 9: 54,630,219 (GRCm39) probably benign Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tbc1d9 T C 8: 83,937,085 (GRCm39) S56P probably damaging Het
Tiam2 A T 17: 3,561,346 (GRCm39) M1304L probably damaging Het
Tmprss11b G T 5: 86,819,753 (GRCm39) R9S probably damaging Het
Tnfrsf21 T A 17: 43,348,505 (GRCm39) I39N probably benign Het
Tnrc6b T C 15: 80,763,604 (GRCm39) S369P probably benign Het
Tpra1 T C 6: 88,887,372 (GRCm39) V217A probably benign Het
Uckl1 G C 2: 181,212,283 (GRCm39) probably benign Het
Vmn1r199 A T 13: 22,566,736 (GRCm39) Q10L probably benign Het
Vmn2r76 A G 7: 85,879,506 (GRCm39) S265P possibly damaging Het
Vwa5b1 A T 4: 138,321,662 (GRCm39) L377Q probably damaging Het
Wrap73 A G 4: 154,229,776 (GRCm39) D49G probably damaging Het
Zfp764 T A 7: 127,004,051 (GRCm39) Q360L possibly damaging Het
Zfp846 G A 9: 20,499,224 (GRCm39) probably benign Het
Zranb2 T C 3: 157,240,096 (GRCm39) I14T probably benign Het
Other mutations in Or1f12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02110:Or1f12 APN 13 21,722,112 (GRCm39) missense possibly damaging 0.50
IGL02827:Or1f12 APN 13 21,721,528 (GRCm39) missense probably benign 0.43
R1650:Or1f12 UTSW 13 21,721,249 (GRCm39) missense probably damaging 1.00
R2168:Or1f12 UTSW 13 21,721,422 (GRCm39) missense probably damaging 1.00
R4936:Or1f12 UTSW 13 21,721,357 (GRCm39) missense probably benign 0.00
R4963:Or1f12 UTSW 13 21,722,152 (GRCm39) missense probably damaging 0.97
R8117:Or1f12 UTSW 13 21,722,122 (GRCm39) missense probably benign
R9272:Or1f12 UTSW 13 21,721,864 (GRCm39) missense possibly damaging 0.69
X0028:Or1f12 UTSW 13 21,721,944 (GRCm39) missense probably damaging 1.00
Z1177:Or1f12 UTSW 13 21,721,419 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CCTGCCTGTTGAACTCCTTTCAGAG -3'
(R):5'- ATACCCTCATGATGGCCCGACTTC -3'

Sequencing Primer
(F):5'- CTGTTGAACTCCTTTCAGAGAAGTG -3'
(R):5'- ATGATGGCCCGACTTCATTTC -3'
Posted On 2013-06-12