Incidental Mutation 'IGL01805:Olfr972'
ID155639
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr972
Ensembl Gene ENSMUSG00000094449
Gene Nameolfactory receptor 972
SynonymsMOR171-17, GA_x6K02T2PVTD-33572803-33573747
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01805
Quality Score
Status
Chromosome9
Chromosomal Location39866422-39874651 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 39873779 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 168 (F168S)
Ref Sequence ENSEMBL: ENSMUSP00000150498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079767] [ENSMUST00000215303] [ENSMUST00000216167]
Predicted Effect probably damaging
Transcript: ENSMUST00000079767
AA Change: F168S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078700
Gene: ENSMUSG00000094449
AA Change: F168S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 7.1e-54 PFAM
Pfam:7tm_1 41 290 2.1e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215303
AA Change: F168S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216167
AA Change: F168S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,925,518 D17G possibly damaging Het
Adam28 G T 14: 68,642,091 S169R probably benign Het
Aox1 T C 1: 58,081,513 M855T possibly damaging Het
Apc C A 18: 34,318,218 N2688K probably benign Het
Arhgap23 T A 11: 97,492,602 probably benign Het
Bpifa6 A G 2: 153,984,912 T66A probably benign Het
C1qtnf1 T A 11: 118,448,167 L221Q probably damaging Het
Ccdc175 T A 12: 72,129,229 probably benign Het
Ccl1 C A 11: 82,178,132 M26I possibly damaging Het
D17Wsu92e C T 17: 27,767,906 probably benign Het
Dnah10 T A 5: 124,783,921 F2123I probably damaging Het
Dpcr1 T A 17: 35,637,643 T355S possibly damaging Het
Fancm T C 12: 65,113,861 probably null Het
Fstl4 C A 11: 53,186,357 A647E probably damaging Het
Hmgb4 G T 4: 128,260,222 probably benign Het
Hr A T 14: 70,565,297 probably benign Het
Kcna4 G T 2: 107,296,498 V526L probably damaging Het
Mas1 T C 17: 12,842,230 Y102C probably damaging Het
Mul1 C T 4: 138,439,663 P343S possibly damaging Het
Obscn T C 11: 59,132,596 S652G probably damaging Het
Pjvk A T 2: 76,657,514 N250I probably benign Het
Pkd2 T C 5: 104,483,093 I461T probably benign Het
Psen2 T C 1: 180,229,838 probably null Het
Ralb T C 1: 119,475,995 E81G probably benign Het
Slc15a4 T C 5: 127,608,836 T261A possibly damaging Het
Vmn2r77 G A 7: 86,811,187 V574M probably benign Het
Xrn2 A G 2: 147,028,143 I251V probably damaging Het
Zfp974 G A 7: 27,912,264 probably benign Het
Other mutations in Olfr972
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02008:Olfr972 APN 9 39873485 missense probably damaging 1.00
IGL02556:Olfr972 APN 9 39873610 missense possibly damaging 0.73
BB008:Olfr972 UTSW 9 39873850 missense possibly damaging 0.86
BB018:Olfr972 UTSW 9 39873850 missense possibly damaging 0.86
IGL02991:Olfr972 UTSW 9 39874066 missense probably benign 0.36
R0494:Olfr972 UTSW 9 39873402 missense probably damaging 1.00
R0725:Olfr972 UTSW 9 39873347 missense probably damaging 0.99
R1179:Olfr972 UTSW 9 39874075 missense possibly damaging 0.78
R1500:Olfr972 UTSW 9 39873411 missense probably benign 0.36
R1796:Olfr972 UTSW 9 39873971 missense probably benign 0.12
R1970:Olfr972 UTSW 9 39873938 missense probably damaging 1.00
R2018:Olfr972 UTSW 9 39874058 missense probably benign 0.35
R4065:Olfr972 UTSW 9 39873422 missense possibly damaging 0.86
R5254:Olfr972 UTSW 9 39873445 missense possibly damaging 0.94
R5799:Olfr972 UTSW 9 39874096 missense possibly damaging 0.78
R6751:Olfr972 UTSW 9 39873680 missense probably benign 0.00
R7525:Olfr972 UTSW 9 39874139 nonsense probably null
R7570:Olfr972 UTSW 9 39873455 missense possibly damaging 0.59
R7803:Olfr972 UTSW 9 39874082 missense probably benign 0.23
R7931:Olfr972 UTSW 9 39873850 missense possibly damaging 0.86
R8344:Olfr972 UTSW 9 39873935 missense probably benign 0.42
R8859:Olfr972 UTSW 9 39873598 missense probably benign 0.05
Z1177:Olfr972 UTSW 9 39873523 missense probably benign 0.33
Posted On2014-02-04