Incidental Mutation 'IGL02494:Or7c19'
ID 295760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or7c19
Ensembl Gene ENSMUSG00000051952
Gene Name olfactory receptor family 7 subfamily C member 19
Synonyms MOR141-3, Olfr371, GA_x6K02T2NUPS-13298842-13299780
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL02494
Quality Score
Status
Chromosome 8
Chromosomal Location 85957126-85958064 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 85957312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 63 (L63I)
Ref Sequence ENSEMBL: ENSMUSP00000151714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070849] [ENSMUST00000218663]
AlphaFold Q8VGB8
Predicted Effect possibly damaging
Transcript: ENSMUST00000070849
AA Change: L63I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077921
Gene: ENSMUSG00000051952
AA Change: L63I

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 9.1e-55 PFAM
Pfam:7TM_GPCR_Srx 32 305 2.2e-6 PFAM
Pfam:7TM_GPCR_Srsx 35 305 3.2e-8 PFAM
Pfam:7tm_1 41 290 9.2e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000218663
AA Change: L63I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob C T 4: 49,541,138 (GRCm39) C178Y possibly damaging Het
Arg2 A G 12: 79,198,697 (GRCm39) R242G probably benign Het
Ash1l T A 3: 88,973,525 (GRCm39) L2528* probably null Het
Astn2 T A 4: 65,910,585 (GRCm39) M468L probably benign Het
Bglap2 A T 3: 88,285,243 (GRCm39) C74* probably null Het
Cand1 A G 10: 119,049,522 (GRCm39) V408A probably benign Het
Ccdc14 A G 16: 34,543,784 (GRCm39) Y714C probably damaging Het
Ccdc88c C T 12: 100,911,734 (GRCm39) G707D probably benign Het
Cdk13 G A 13: 17,913,710 (GRCm39) R890* probably null Het
Cep192 A G 18: 67,937,453 (GRCm39) E61G probably benign Het
Ctdspl T C 9: 118,866,484 (GRCm39) L181P probably damaging Het
Dock7 C T 4: 98,877,471 (GRCm39) V442M probably benign Het
Dop1a T C 9: 86,408,871 (GRCm39) V1860A probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fscn2 G A 11: 120,253,228 (GRCm39) V232M probably benign Het
Gemin5 A T 11: 58,012,583 (GRCm39) C1458S probably benign Het
Glrb A G 3: 80,752,539 (GRCm39) V408A probably benign Het
Gtse1 C T 15: 85,751,704 (GRCm39) P299L probably damaging Het
Hcfc1r1 T A 17: 23,893,559 (GRCm39) M46K probably damaging Het
Hdc A G 2: 126,436,041 (GRCm39) F610S probably benign Het
Hip1 A T 5: 135,473,645 (GRCm39) C224* probably null Het
Hsd17b10 G T X: 150,787,230 (GRCm39) A241S probably benign Het
Igsf10 G T 3: 59,235,427 (GRCm39) Q1585K probably damaging Het
Kat2b T C 17: 53,960,233 (GRCm39) Y514H probably damaging Het
Krt78 T C 15: 101,862,486 (GRCm39) I58M probably benign Het
Lcat C A 8: 106,668,571 (GRCm39) probably benign Het
Naca G A 10: 127,877,179 (GRCm39) probably benign Het
Nbea T C 3: 55,712,772 (GRCm39) K2102E probably benign Het
Ocrl G A X: 47,022,315 (GRCm39) D262N probably benign Het
Or1e35 A C 11: 73,797,550 (GRCm39) I256S possibly damaging Het
Or4b1b G A 2: 90,112,295 (GRCm39) S208F probably benign Het
Or4n4 A T 14: 50,519,683 (GRCm39) V9D probably damaging Het
Patj T A 4: 98,592,224 (GRCm39) probably benign Het
Pcdhb17 G A 18: 37,618,347 (GRCm39) A46T possibly damaging Het
Phf8 T C X: 150,408,227 (GRCm39) V859A probably benign Het
Plec T A 15: 76,060,979 (GRCm39) E3054V probably damaging Het
Prr12 C A 7: 44,678,270 (GRCm39) K1958N unknown Het
Psmf1 A G 2: 151,582,929 (GRCm39) probably null Het
Rsu1 T C 2: 13,222,002 (GRCm39) probably null Het
Samm50 T C 15: 84,080,015 (GRCm39) V31A probably benign Het
St14 A G 9: 31,019,941 (GRCm39) V56A possibly damaging Het
Trpc1 T C 9: 95,590,360 (GRCm39) N699S probably damaging Het
Ttn A T 2: 76,574,144 (GRCm39) M25583K probably damaging Het
Utrn A G 10: 12,585,798 (GRCm39) V993A probably benign Het
Other mutations in Or7c19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:Or7c19 APN 8 85,957,813 (GRCm39) missense probably benign 0.14
IGL01380:Or7c19 APN 8 85,957,775 (GRCm39) missense probably damaging 0.99
IGL01380:Or7c19 APN 8 85,957,958 (GRCm39) missense possibly damaging 0.95
IGL01680:Or7c19 APN 8 85,957,308 (GRCm39) missense probably benign
IGL01880:Or7c19 APN 8 85,957,712 (GRCm39) missense probably benign 0.00
IGL02194:Or7c19 APN 8 85,957,262 (GRCm39) missense possibly damaging 0.82
IGL02416:Or7c19 APN 8 85,957,662 (GRCm39) nonsense probably null
IGL03072:Or7c19 APN 8 85,957,139 (GRCm39) missense probably benign 0.08
IGL03130:Or7c19 APN 8 85,957,258 (GRCm39) missense possibly damaging 0.93
R0017:Or7c19 UTSW 8 85,957,706 (GRCm39) missense probably benign 0.25
R1157:Or7c19 UTSW 8 85,957,889 (GRCm39) missense probably damaging 0.98
R1165:Or7c19 UTSW 8 85,957,400 (GRCm39) missense probably damaging 0.98
R1730:Or7c19 UTSW 8 85,957,477 (GRCm39) missense probably benign 0.16
R2017:Or7c19 UTSW 8 85,957,373 (GRCm39) missense possibly damaging 0.91
R2426:Or7c19 UTSW 8 85,957,693 (GRCm39) missense probably damaging 0.97
R4447:Or7c19 UTSW 8 85,957,995 (GRCm39) nonsense probably null
R4703:Or7c19 UTSW 8 85,957,237 (GRCm39) missense possibly damaging 0.95
R4797:Or7c19 UTSW 8 85,957,567 (GRCm39) missense probably benign
R5029:Or7c19 UTSW 8 85,957,835 (GRCm39) missense probably benign 0.00
R5173:Or7c19 UTSW 8 85,957,205 (GRCm39) missense probably damaging 0.99
R6349:Or7c19 UTSW 8 85,957,787 (GRCm39) missense possibly damaging 0.93
R7754:Or7c19 UTSW 8 85,957,427 (GRCm39) missense possibly damaging 0.71
R8955:Or7c19 UTSW 8 85,957,913 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16