Incidental Mutation 'IGL03165:Olfr619'
ID411576
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: 0.063) question?
Stock #IGL03165
Quality Score
Status
Chromosome7
Chromosomal Location103600575-103604859 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103604011 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 119 (I119T)
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: I119T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095798
Gene: ENSMUSG00000073944
AA Change: I119T

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: I119T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,094,394 I334V probably benign Het
Axdnd1 T A 1: 156,378,389 Y519F probably benign Het
C4b A G 17: 34,739,955 F500S probably benign Het
Cacng2 A T 15: 77,995,663 I153N possibly damaging Het
Ces1d T A 8: 93,189,519 H160L probably benign Het
Cnnm3 T G 1: 36,525,232 probably benign Het
Ctnna3 A G 10: 64,945,941 T728A probably damaging Het
Cyp2g1 G A 7: 26,809,776 V92M possibly damaging Het
Dock2 C A 11: 34,687,533 V35F probably damaging Het
Eif2a C A 3: 58,548,628 Y349* probably null Het
Erp44 C T 4: 48,236,872 probably null Het
Flg2 C T 3: 93,214,611 H1363Y unknown Het
Flnc G T 6: 29,449,378 G1425W probably damaging Het
Frem3 A G 8: 80,612,529 N484D probably benign Het
Fstl3 A G 10: 79,779,965 D95G probably benign Het
Gldc A G 19: 30,098,993 S1018P possibly damaging Het
Gstk1 T G 6: 42,249,434 I159S probably benign Het
Herc2 A G 7: 56,191,912 E3513G probably damaging Het
Hpca A T 4: 129,118,590 I51N probably damaging Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Igkv4-74 T C 6: 69,185,305 probably benign Het
Kdm7a C A 6: 39,170,914 probably benign Het
Olfr1040 A C 2: 86,146,068 L222R possibly damaging Het
Olfr382 A T 11: 73,516,884 L105* probably null Het
Pa2g4 A T 10: 128,559,060 probably null Het
Pdlim3 T A 8: 45,918,998 L360Q possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polk T A 13: 96,516,688 Q68L probably benign Het
Ppfia2 T G 10: 106,767,487 L195R probably damaging Het
Ranbp1 A T 16: 18,247,281 probably benign Het
Rbm12b1 A G 4: 12,145,845 R606G possibly damaging Het
Ryr1 A G 7: 29,105,040 V488A probably benign Het
Sall2 A T 14: 52,314,168 D521E probably damaging Het
Sntg1 A T 1: 8,445,104 C402S probably damaging Het
Spg7 T C 8: 123,080,812 probably null Het
Stk31 G A 6: 49,445,264 E750K probably damaging Het
Tlr2 A G 3: 83,837,948 I276T probably benign Het
Trav12-2 A T 14: 53,616,749 H60L probably benign Het
Urb1 A G 16: 90,780,304 L775S probably damaging Het
Utp14b A G 1: 78,664,520 D45G probably damaging 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
IGL02269:Olfr619 APN 7 103603882 missense probably damaging 0.98
IGL03049:Olfr619 APN 7 103604091 missense probably damaging 0.99
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 On2016-08-02