Incidental Mutation 'R4605:Olfr472'
ID345967
Institutional Source Beutler Lab
Gene Symbol Olfr472
Ensembl Gene ENSMUSG00000073893
Gene Nameolfactory receptor 472
SynonymsMOR204-5, GA_x6K02T2PBJ9-10231953-10232885
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #R4605 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location107897902-107907762 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 107903238 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 174 (I174L)
Ref Sequence ENSEMBL: ENSMUSP00000150404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000209670] [ENSMUST00000210420] [ENSMUST00000216937]
Predicted Effect probably benign
Transcript: ENSMUST00000084760
AA Change: I174L

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000081815
Gene: ENSMUSG00000063120
AA Change: I174L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.6e-49 PFAM
Pfam:7tm_1 41 290 8.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209670
AA Change: I174L

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000210420
AA Change: I174L

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210856
Predicted Effect probably benign
Transcript: ENSMUST00000216937
AA Change: I174L

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,683,186 K971R probably benign Het
Ankra2 A G 13: 98,266,234 probably benign Het
Atp9b T A 18: 80,753,149 probably null Het
Birc6 G A 17: 74,639,934 D2885N probably damaging Het
Chaf1b A T 16: 93,888,089 N142I possibly damaging Het
Ckap5 G A 2: 91,576,214 G787S probably damaging Het
Ctc1 G T 11: 69,029,726 C372F possibly damaging Het
Dip2b A G 15: 100,209,636 T1176A probably benign Het
Epha10 A G 4: 124,885,757 E132G probably damaging Het
Extl1 A G 4: 134,359,834 V471A probably benign Het
Fgd6 T C 10: 94,044,355 L357P probably benign Het
Gapvd1 A T 2: 34,728,537 C275S probably damaging Het
Kcnj2 G A 11: 111,072,850 C356Y probably damaging Het
Kcnk10 T C 12: 98,489,960 D204G probably damaging Het
Krtap9-1 A C 11: 99,873,753 E105A unknown Het
Loxhd1 G A 18: 77,405,946 V668I probably benign Het
Ly86 T C 13: 37,375,011 I62T possibly damaging Het
Maip1 A G 1: 57,411,732 I178V probably benign Het
Mical3 G A 6: 121,034,080 Q386* probably null Het
Olfr1057 G A 2: 86,374,797 T205I probably benign Het
Olfr1461 T A 19: 13,165,248 V78D probably damaging Het
Olfr235 T C 19: 12,269,168 *313Q probably null Het
Pcdha12 T C 18: 37,021,523 S432P probably damaging Het
Prex1 A T 2: 166,713,544 Y59N probably benign Het
Sbf1 A G 15: 89,303,481 F654L probably damaging Het
Sh2d5 T A 4: 138,257,255 Y187* probably null Het
Slc9a4 T C 1: 40,601,035 probably null Het
Smyd2 A G 1: 189,897,426 S136P probably damaging Het
Srsf11 A T 3: 158,022,923 L115* probably null Het
Tbx19 C T 1: 165,153,584 V114I possibly damaging Het
Unc5b A G 10: 60,774,403 V545A probably benign Het
Ush2a A G 1: 188,910,801 Y4120C probably damaging Het
Vps13a T C 19: 16,640,039 T3002A probably damaging Het
Zkscan2 A T 7: 123,498,724 W150R probably damaging Het
Other mutations in Olfr472
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Olfr472 APN 7 107903104 missense probably damaging 1.00
IGL02002:Olfr472 APN 7 107903290 missense possibly damaging 0.81
IGL02320:Olfr472 APN 7 107902831 missense possibly damaging 0.78
IGL02701:Olfr472 APN 7 107903442 missense probably benign 0.42
IGL03022:Olfr472 APN 7 107902981 missense probably benign 0.18
IGL03214:Olfr472 APN 7 107902966 missense probably benign 0.00
IGL03257:Olfr472 APN 7 107902756 missense probably benign 0.01
IGL03372:Olfr472 APN 7 107903370 missense probably damaging 1.00
R0081:Olfr472 UTSW 7 107903005 missense probably benign 0.00
R0669:Olfr472 UTSW 7 107903239 missense probably damaging 1.00
R0932:Olfr472 UTSW 7 107903190 missense possibly damaging 0.94
R1158:Olfr472 UTSW 7 107902923 missense possibly damaging 0.75
R1746:Olfr472 UTSW 7 107902886 missense probably benign 0.01
R3777:Olfr472 UTSW 7 107902747 missense probably benign
R3778:Olfr472 UTSW 7 107902747 missense probably benign
R4661:Olfr472 UTSW 7 107902981 missense probably benign 0.18
R4675:Olfr472 UTSW 7 107903360 missense probably damaging 1.00
R5374:Olfr472 UTSW 7 107903491 missense possibly damaging 0.52
R5686:Olfr472 UTSW 7 107902912 missense probably damaging 0.99
R6030:Olfr472 UTSW 7 107903413 missense probably benign 0.06
R6030:Olfr472 UTSW 7 107903413 missense probably benign 0.06
R6164:Olfr472 UTSW 7 107903388 missense probably benign 0.01
R6347:Olfr472 UTSW 7 107902950 missense possibly damaging 0.68
R6995:Olfr472 UTSW 7 107903622 missense probably benign 0.13
R7035:Olfr472 UTSW 7 107902933 missense probably benign
R7818:Olfr472 UTSW 7 107903023 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTACCTGTGCAGCTCAACTCTG -3'
(R):5'- TCAGTGGAGCGCATCTTCAG -3'

Sequencing Primer
(F):5'- GCAGCTCAACTCTGTATGACAGTG -3'
(R):5'- CATCTTCAGGATGGTGATAAGTATG -3'
Posted On2015-09-25