Incidental Mutation 'IGL01701:Olfr1314'
ID104461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1314
Ensembl Gene ENSMUSG00000074945
Gene Nameolfactory receptor 1314
SynonymsGA_x6K02T2Q125-73139026-73138088, MOR245-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL01701
Quality Score
Status
Chromosome2
Chromosomal Location112089786-112096781 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 112092506 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 65 (N65S)
Ref Sequence ENSEMBL: ENSMUSP00000146418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099598] [ENSMUST00000207976]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099598
AA Change: N65S

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097193
Gene: ENSMUSG00000074945
AA Change: N65S

DomainStartEndE-ValueType
Pfam:7tm_4 30 305 9.2e-42 PFAM
Pfam:7tm_1 41 287 1.6e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000207976
AA Change: N65S

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik T G 12: 55,308,875 probably benign Het
2410089E03Rik T C 15: 8,203,257 probably benign Het
4930568D16Rik A G 2: 35,364,764 Y36H possibly damaging Het
Adgrv1 T C 13: 81,419,631 D5141G possibly damaging Het
Adk G A 14: 21,103,854 E42K probably damaging Het
Akap1 C A 11: 88,845,132 V268L probably benign Het
Arl6ip5 A G 6: 97,210,813 probably benign Het
Atrx A G X: 105,830,920 S1945P probably damaging Het
Clec5a G A 6: 40,582,226 probably benign Het
Cul3 G T 1: 80,277,423 H6Q probably damaging Het
D11Wsu47e T C 11: 113,689,101 F441L probably benign Het
E330021D16Rik T A 6: 136,400,806 Y342F probably damaging Het
Fn1 T C 1: 71,629,853 probably benign Het
Furin C A 7: 80,392,492 V452F probably benign Het
Furin T A 7: 80,390,759 D777V probably benign Het
Hmgb4 G A 4: 128,260,373 T134I probably benign Het
Ift74 A T 4: 94,662,658 E349V possibly damaging Het
Igkv6-23 A T 6: 70,260,896 L13Q probably damaging Het
Lekr1 A T 3: 65,684,004 Y54F probably damaging Het
Lman1 A T 18: 65,994,850 V241E possibly damaging Het
Mat1a T A 14: 41,114,815 D167E probably benign Het
Myl6 G A 10: 128,492,097 A130V probably damaging Het
Myo9a T C 9: 59,884,594 probably null Het
Nlrp4f A T 13: 65,199,409 W12R probably damaging Het
Nr1h4 T C 10: 89,478,807 R276G probably benign Het
Olfr1026 C A 2: 85,924,077 Q270K possibly damaging Het
Pag1 C T 3: 9,693,826 E411K probably damaging Het
Rttn A G 18: 89,064,215 N1422D probably damaging Het
Ryr1 C T 7: 29,059,810 R3345Q probably damaging Het
Slc12a8 T C 16: 33,540,910 L85P probably damaging Het
Slc22a17 T C 14: 54,907,261 H565R probably damaging Het
Slc46a3 T C 5: 147,886,298 T245A probably benign Het
Thsd7b A G 1: 129,430,928 H33R probably benign Het
Tmem131 A G 1: 36,808,237 V1260A probably benign Het
Tmem30a A T 9: 79,774,179 F236Y probably damaging Het
Trim30b A C 7: 104,366,051 Y43* probably null Het
Trpc3 T C 3: 36,671,594 K78E possibly damaging Het
Twist2 A T 1: 91,802,014 M130L probably benign Het
Other mutations in Olfr1314
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Olfr1314 APN 2 112092094 missense probably damaging 0.99
IGL02085:Olfr1314 APN 2 112092524 missense probably damaging 1.00
IGL02156:Olfr1314 APN 2 112092016 missense probably benign 0.12
IGL02266:Olfr1314 APN 2 112092243 missense probably benign 0.05
IGL02396:Olfr1314 APN 2 112092467 missense probably benign 0.20
IGL02602:Olfr1314 APN 2 112092561 missense probably benign 0.00
IGL03130:Olfr1314 APN 2 112091821 missense probably benign
R0452:Olfr1314 UTSW 2 112092636 nonsense probably null
R1498:Olfr1314 UTSW 2 112092593 missense probably benign 0.40
R1514:Olfr1314 UTSW 2 112092036 missense probably benign 0.01
R1852:Olfr1314 UTSW 2 112091847 missense probably benign 0.03
R2118:Olfr1314 UTSW 2 112092330 missense probably benign 0.02
R2219:Olfr1314 UTSW 2 112092407 missense probably damaging 0.99
R2357:Olfr1314 UTSW 2 112092398 missense possibly damaging 0.69
R3743:Olfr1314 UTSW 2 112092620 missense probably benign 0.33
R4692:Olfr1314 UTSW 2 112092681 missense probably damaging 1.00
R5092:Olfr1314 UTSW 2 112092107 missense possibly damaging 0.94
R5150:Olfr1314 UTSW 2 112092535 missense possibly damaging 0.95
R5230:Olfr1314 UTSW 2 112092389 missense probably benign 0.12
R5991:Olfr1314 UTSW 2 112092615 missense probably benign 0.30
Posted On2014-01-21