Incidental Mutation 'IGL01113:Olfr350'
ID 50549
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr350
Ensembl Gene ENSMUSG00000050015
Gene Name olfactory receptor 350
Synonyms MOR136-13, GA_x6K02T2NLDC-33544602-33545540
Accession Numbers

Genbank: NM_146627; MGI: 3030184

Is this an essential gene? Probably non essential (E-score: 0.175) question?
Stock # IGL01113
Quality Score
Status
Chromosome 2
Chromosomal Location 36846310-36851702 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36850619 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 191 (D191V)
Ref Sequence ENSEMBL: ENSMUSP00000149667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055130] [ENSMUST00000214457] [ENSMUST00000215100]
AlphaFold Q8VFP8
Predicted Effect probably damaging
Transcript: ENSMUST00000055130
AA Change: D191V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053105
Gene: ENSMUSG00000050015
AA Change: D191V

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 6.3e-61 PFAM
Pfam:7TM_GPCR_Srsx 35 305 1.3e-7 PFAM
Pfam:7tm_1 41 290 3e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214457
AA Change: D191V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215100
AA Change: D191V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544L04Rik A G 7: 135,397,142 noncoding transcript Het
Adgrv1 A T 13: 81,489,028 F3431L probably benign Het
Adk A G 14: 21,092,393 N21S probably damaging Het
Cacna2d3 A G 14: 29,300,731 probably benign Het
Camk2d C A 3: 126,780,412 A156E probably damaging Het
Ccdc171 G T 4: 83,661,810 W598L probably damaging Het
Cep85 C T 4: 134,148,761 V445I possibly damaging Het
Cftr A G 6: 18,270,253 Y814C probably damaging Het
Dctn1 T C 6: 83,179,897 S9P probably benign Het
Dmxl1 A G 18: 49,912,751 K2409R probably benign Het
Dnaaf1 T A 8: 119,582,578 I135N probably damaging Het
Eif3d G A 15: 77,963,315 T241M probably damaging Het
Etv1 T C 12: 38,781,792 probably benign Het
Gdpd3 C A 7: 126,767,825 S182R probably benign Het
Gm12888 C A 4: 121,318,324 C87F probably damaging Het
Gm5346 T C 8: 43,626,152 H345R probably damaging Het
Gml C A 15: 74,813,727 M136I probably benign Het
Habp2 A G 19: 56,310,116 T137A probably benign Het
Igkv6-25 C T 6: 70,215,788 P60S possibly damaging Het
Mak A T 13: 41,042,143 W396R probably damaging Het
Mast4 C A 13: 102,774,236 C441F probably damaging Het
Medag T C 5: 149,429,907 I189T probably benign Het
Myh1 A G 11: 67,202,180 T71A probably benign Het
Nin G T 12: 70,031,779 L1678M probably damaging Het
Nol6 T C 4: 41,115,749 D1081G probably damaging Het
Olfr308 A T 7: 86,321,153 D266E probably benign Het
Ppp1r10 T A 17: 35,929,559 N580K probably damaging Het
Rpgrip1l T C 8: 91,260,739 probably benign Het
Serpinb3a G A 1: 107,051,059 Q57* probably null Het
Thumpd3 T C 6: 113,060,060 S307P probably benign Het
Upf1 A C 8: 70,338,284 D577E probably benign Het
Vmn2r99 T C 17: 19,394,256 V746A probably benign Het
Wscd2 T C 5: 113,570,739 V268A probably damaging Het
Other mutations in Olfr350
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Olfr350 APN 2 36850270 missense probably damaging 1.00
IGL01393:Olfr350 APN 2 36850541 missense probably benign 0.01
IGL02302:Olfr350 APN 2 36850703 missense probably benign 0.02
IGL02316:Olfr350 APN 2 36850282 missense probably damaging 1.00
BB007:Olfr350 UTSW 2 36850273 missense probably damaging 1.00
BB017:Olfr350 UTSW 2 36850273 missense probably damaging 1.00
F6893:Olfr350 UTSW 2 36850807 missense probably benign 0.00
PIT4402001:Olfr350 UTSW 2 36850304 missense probably benign
R0312:Olfr350 UTSW 2 36850360 missense probably benign 0.01
R0525:Olfr350 UTSW 2 36850190 missense probably damaging 1.00
R0557:Olfr350 UTSW 2 36850748 missense possibly damaging 0.95
R0665:Olfr350 UTSW 2 36850190 missense probably damaging 1.00
R2019:Olfr350 UTSW 2 36850406 missense possibly damaging 0.95
R2107:Olfr350 UTSW 2 36850343 missense possibly damaging 0.54
R2108:Olfr350 UTSW 2 36850343 missense possibly damaging 0.54
R2848:Olfr350 UTSW 2 36850799 missense probably damaging 1.00
R3964:Olfr350 UTSW 2 36850717 missense probably benign 0.12
R4822:Olfr350 UTSW 2 36850876 missense probably benign 0.10
R4907:Olfr350 UTSW 2 36850258 missense probably benign 0.28
R5134:Olfr350 UTSW 2 36850476 missense probably benign 0.03
R5144:Olfr350 UTSW 2 36850144 missense probably benign
R5702:Olfr350 UTSW 2 36850934 missense probably damaging 1.00
R5727:Olfr350 UTSW 2 36850532 missense possibly damaging 0.80
R5786:Olfr350 UTSW 2 36850049 start codon destroyed probably null 0.98
R6179:Olfr350 UTSW 2 36850834 missense possibly damaging 0.59
R6862:Olfr350 UTSW 2 36850222 missense possibly damaging 0.95
R7258:Olfr350 UTSW 2 36850340 missense probably damaging 0.99
R7307:Olfr350 UTSW 2 36850125 missense probably benign 0.00
R7353:Olfr350 UTSW 2 36850069 missense probably benign
R7412:Olfr350 UTSW 2 36850466 missense probably benign 0.28
R7851:Olfr350 UTSW 2 36850416 nonsense probably null
R7930:Olfr350 UTSW 2 36850273 missense probably damaging 1.00
R8005:Olfr350 UTSW 2 36850144 missense probably benign
R8346:Olfr350 UTSW 2 36850339 missense probably benign 0.02
R8692:Olfr350 UTSW 2 36850084 missense probably benign 0.00
R9120:Olfr350 UTSW 2 36850131 nonsense probably null
R9318:Olfr350 UTSW 2 36850553 missense probably benign 0.12
Z1177:Olfr350 UTSW 2 36850239 missense probably damaging 0.99
Z1177:Olfr350 UTSW 2 36850925 missense probably damaging 1.00
Posted On 2013-06-21