Incidental Mutation 'IGL02366:Olfr616'
ID290744
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr616
Ensembl Gene ENSMUSG00000047544
Gene Nameolfactory receptor 616
SynonymsMOR19-1, GA_x6K02T2PBJ9-6289676-6288723
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL02366
Quality Score
Status
Chromosome7
Chromosomal Location103563747-103569143 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 103564415 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 288 (V288D)
Ref Sequence ENSEMBL: ENSMUSP00000150954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098198] [ENSMUST00000106886] [ENSMUST00000214345] [ENSMUST00000214806] [ENSMUST00000215673] [ENSMUST00000217293]
Predicted Effect probably benign
Transcript: ENSMUST00000098198
SMART Domains Protein: ENSMUSP00000095800
Gene: ENSMUSG00000073947

DomainStartEndE-ValueType
Pfam:7tm_4 32 311 2.5e-105 PFAM
Pfam:7TM_GPCR_Srsx 36 253 8.5e-9 PFAM
Pfam:7tm_1 42 293 8.2e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106886
AA Change: V288D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102499
Gene: ENSMUSG00000047544
AA Change: V288D

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
Pfam:7tm_4 33 311 1.1e-116 PFAM
Pfam:7TM_GPCR_Srsx 37 309 1.2e-6 PFAM
Pfam:7tm_1 43 294 4.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214345
Predicted Effect probably damaging
Transcript: ENSMUST00000214806
AA Change: V288D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000215673
Predicted Effect probably damaging
Transcript: ENSMUST00000217293
AA Change: V288D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik T A 15: 12,810,773 H339L probably benign Het
Abcc1 T C 16: 14,467,979 probably benign Het
Ankrd55 T C 13: 112,318,460 Y3H probably damaging Het
Armcx4 A C X: 134,691,512 K723T possibly damaging Het
Brinp3 T A 1: 146,701,743 V172D possibly damaging Het
Cemip C T 7: 83,943,641 R1226Q probably benign Het
Cntn5 A T 9: 9,984,055 probably benign Het
Cyld T C 8: 88,729,753 V474A probably damaging Het
Dhx40 T C 11: 86,776,702 E537G probably damaging Het
Efhc1 A G 1: 20,960,262 N140D probably damaging Het
Eif6 A G 2: 155,826,172 V49A probably benign Het
Epha4 G T 1: 77,426,711 Y386* probably null Het
Ggnbp2 T C 11: 84,841,601 K222R probably damaging Het
Gm5117 T C 8: 31,737,859 noncoding transcript Het
Gm5852 A T 3: 93,727,261 noncoding transcript Het
Hadha A G 5: 30,135,050 V243A probably benign Het
Hal A G 10: 93,503,528 N493S probably damaging Het
Insrr A G 3: 87,809,909 T731A possibly damaging Het
Irs4 A T X: 141,723,904 L432H probably damaging Het
Kdm4a T G 4: 118,160,506 probably null Het
Lhx4 T C 1: 155,705,188 D197G possibly damaging Het
Mllt10 T A 2: 18,065,087 M18K probably damaging Het
Nars T C 18: 64,503,528 T422A possibly damaging Het
Ncf2 A G 1: 152,835,073 D445G probably benign Het
Ndor1 C A 2: 25,247,981 G544V possibly damaging Het
Notch3 C A 17: 32,144,205 R1268L probably benign Het
Olfr1472 T C 19: 13,454,127 Y130C probably damaging Het
Olfr229 T C 9: 39,909,992 L63P probably damaging Het
Olfr771 A T 10: 129,160,625 Y120N probably damaging Het
Osgep T C 14: 50,919,950 D72G probably damaging Het
Pank4 C T 4: 154,969,628 T88I probably benign Het
Pcgf6 T C 19: 47,050,455 E122G possibly damaging Het
Ppp1r21 A G 17: 88,547,662 H123R probably damaging Het
Prex1 A C 2: 166,580,427 L28R probably damaging Het
Rbl1 A T 2: 157,174,893 N595K probably benign Het
Rnf148 T C 6: 23,654,059 I313V probably benign Het
Rnf220 T C 4: 117,489,783 N144S probably benign Het
Sbno2 G A 10: 80,064,202 T577I probably damaging Het
Sez6 T C 11: 77,976,882 I875T probably damaging Het
Slco1a5 A T 6: 142,250,215 V354D possibly damaging Het
Slit2 A T 5: 48,304,068 T1486S possibly damaging Het
Snd1 T C 6: 28,707,150 probably benign Het
Sval3 T C 6: 41,969,725 probably benign Het
Tmem94 T C 11: 115,797,432 L1239P probably damaging Het
Trpm6 T C 19: 18,778,510 probably benign Het
Ttc9 A C 12: 81,631,610 D69A possibly damaging Het
Ttn A T 2: 76,763,236 L20687M probably benign Het
Zfp748 T A 13: 67,545,427 probably benign Het
Other mutations in Olfr616
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01640:Olfr616 APN 7 103565021 missense probably damaging 0.99
IGL03028:Olfr616 APN 7 103564589 splice site probably null
R0087:Olfr616 UTSW 7 103564362 missense probably benign 0.00
R1450:Olfr616 UTSW 7 103564451 missense probably benign 0.12
R1900:Olfr616 UTSW 7 103564607 nonsense probably null
R2026:Olfr616 UTSW 7 103564877 missense probably damaging 1.00
R2139:Olfr616 UTSW 7 103564754 missense possibly damaging 0.90
R2883:Olfr616 UTSW 7 103565264 missense probably benign 0.24
R4359:Olfr616 UTSW 7 103564535 missense probably benign 0.29
R4589:Olfr616 UTSW 7 103564432 missense probably damaging 0.98
R4827:Olfr616 UTSW 7 103564545 missense probably damaging 1.00
R5023:Olfr616 UTSW 7 103565171 missense possibly damaging 0.95
R5397:Olfr616 UTSW 7 103564506 missense probably damaging 0.99
R6109:Olfr616 UTSW 7 103565139 missense probably benign 0.12
R8090:Olfr616 UTSW 7 103564841 missense probably benign 0.03
Posted On2015-04-16