Incidental Mutation 'IGL02269:Olfr619'
ID287042
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr619
Ensembl Gene ENSMUSG00000073944
Gene Nameolfactory receptor 619
SynonymsMOR31-5, GA_x6K02T2PBJ9-6326488-6327450
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL02269
Quality Score
Status
Chromosome7
Chromosomal Location103600575-103604859 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103603882 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 76 (I76N)
Ref Sequence ENSEMBL: ENSMUSP00000150630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098196] [ENSMUST00000214883] [ENSMUST00000215732] [ENSMUST00000217603]
Predicted Effect probably damaging
Transcript: ENSMUST00000098196
AA Change: I76N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095798
Gene: ENSMUSG00000073944
AA Change: I76N

DomainStartEndE-ValueType
Pfam:7tm_4 36 316 4.4e-106 PFAM
Pfam:7TM_GPCR_Srsx 40 265 5e-10 PFAM
Pfam:7tm_1 46 298 3.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214883
Predicted Effect probably damaging
Transcript: ENSMUST00000215732
AA Change: I76N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215752
Predicted Effect probably benign
Transcript: ENSMUST00000217603
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A G 11: 50,942,598 V59A unknown Het
A2ml1 C A 6: 128,553,338 probably benign Het
Akap13 G A 7: 75,602,911 R263H probably benign Het
B3galt5 A G 16: 96,315,530 D121G possibly damaging Het
Becn1 A G 11: 101,291,535 probably benign Het
Carmil1 A T 13: 24,155,410 L150* probably null Het
Cep170 A T 1: 176,769,366 M475K probably benign Het
Cyp24a1 C T 2: 170,496,572 G68D probably damaging Het
Cyp3a44 A T 5: 145,805,737 I18N probably benign Het
Dmrt2 T C 19: 25,678,459 V474A probably benign Het
Dtnb A G 12: 3,596,691 D64G probably damaging Het
Epb41l3 T C 17: 69,247,573 S223P probably damaging Het
Ephb2 A G 4: 136,771,049 Y240H possibly damaging Het
Extl3 T C 14: 65,077,583 Y50C probably damaging Het
Fat3 A C 9: 15,915,577 S4360A possibly damaging Het
Fbxo9 A T 9: 78,087,553 V230E probably damaging Het
Frmd4a T C 2: 4,604,234 M971T probably benign Het
Gm7275 A G 16: 48,073,822 noncoding transcript Het
Hyal6 C T 6: 24,740,859 T337I probably damaging Het
Obsl1 C T 1: 75,487,713 V1650M probably damaging Het
Olfr143 A T 9: 38,253,936 D173V possibly damaging Het
Olfr341 A T 2: 36,479,567 S188T possibly damaging Het
Olfr860 A T 9: 19,845,728 I297N possibly damaging Het
Pcdh7 A C 5: 57,913,322 E1114A probably damaging Het
Pde8a C T 7: 81,308,802 probably benign Het
Pdzrn4 A T 15: 92,769,850 S628C probably damaging Het
Pear1 C T 3: 87,756,264 G376S probably damaging Het
Plekha6 C T 1: 133,287,849 T644M possibly damaging Het
Plpp1 T A 13: 112,856,992 C153S probably damaging Het
Ptpn3 G A 4: 57,197,510 T793M possibly damaging Het
Rdh13 A T 7: 4,445,498 L5Q possibly damaging Het
Rimbp2 G T 5: 128,774,295 D862E probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Scamp1 C T 13: 94,232,186 probably benign Het
Scamp3 A G 3: 89,180,734 T178A probably benign Het
Sh3tc1 A G 5: 35,706,284 V853A probably benign Het
Snrnp200 C T 2: 127,229,991 T1197M possibly damaging Het
Sult3a1 T C 10: 33,879,263 F275L probably benign Het
Tenm4 A T 7: 96,823,822 I905F probably damaging Het
Tgm3 T A 2: 130,024,518 S119T probably benign Het
Tmem131l A T 3: 83,938,050 D424E possibly damaging Het
Tmem45b G T 9: 31,427,983 C145* probably null Het
Unc5c G A 3: 141,788,982 R352H probably damaging Het
Vmn2r12 A G 5: 109,086,477 L623P probably damaging Het
Vmn2r68 T C 7: 85,221,739 M779V possibly damaging Het
Zfhx2 T C 14: 55,071,936 N902S probably benign Het
Other mutations in Olfr619
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Olfr619 APN 7 103604067 missense probably benign 0.23
IGL01806:Olfr619 APN 7 103604341 missense probably benign 0.21
IGL01934:Olfr619 APN 7 103603975 missense probably damaging 1.00
IGL03049:Olfr619 APN 7 103604091 missense probably damaging 0.99
IGL03165:Olfr619 APN 7 103604011 missense probably damaging 0.98
IGL03338:Olfr619 APN 7 103604408 nonsense probably null
R1378:Olfr619 UTSW 7 103603938 nonsense probably null
R1660:Olfr619 UTSW 7 103603675 nonsense probably null
R1975:Olfr619 UTSW 7 103604012 unclassified probably null
R1985:Olfr619 UTSW 7 103603672 missense probably benign
R2249:Olfr619 UTSW 7 103603736 missense probably benign 0.00
R2423:Olfr619 UTSW 7 103604034 missense probably benign 0.14
R4005:Olfr619 UTSW 7 103604263 missense probably damaging 1.00
R4931:Olfr619 UTSW 7 103604374 missense probably benign 0.01
R4939:Olfr619 UTSW 7 103604251 missense probably benign 0.12
R4942:Olfr619 UTSW 7 103604194 missense probably benign
R4970:Olfr619 UTSW 7 103603990 missense probably damaging 0.98
R4993:Olfr619 UTSW 7 103603656 start codon destroyed probably benign 0.01
R5254:Olfr619 UTSW 7 103603789 missense probably benign 0.19
R6001:Olfr619 UTSW 7 103603972 missense probably damaging 1.00
R6905:Olfr619 UTSW 7 103604367 missense probably benign
R6985:Olfr619 UTSW 7 103603668 missense probably benign 0.00
Posted On2015-04-16