Incidental Mutation 'IGL03396:Or6c68'
ID 421249
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c68
Ensembl Gene ENSMUSG00000049573
Gene Name olfactory receptor family 6 subfamily C member 68
Synonyms GA_x6K02T2PULF-11002360-11003298, MOR114-12, Olfr780
Accession Numbers
Essential gene? Possibly essential (E-score: 0.707) question?
Stock # IGL03396
Quality Score
Status
Chromosome 10
Chromosomal Location 129157494-129158432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129157916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 141 (I141M)
Ref Sequence ENSEMBL: ENSMUSP00000149258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063168] [ENSMUST00000215503]
AlphaFold Q8VEU0
Predicted Effect probably benign
Transcript: ENSMUST00000063168
AA Change: I141M

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000054927
Gene: ENSMUSG00000049573
AA Change: I141M

DomainStartEndE-ValueType
Pfam:7tm_4 28 306 1.4e-45 PFAM
Pfam:7tm_1 39 288 9.6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215503
AA Change: I141M

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Meta Mutation Damage Score 0.0898 question?
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl G A 11: 69,902,239 (GRCm39) R457* probably null Het
Arl5b C A 2: 15,079,915 (GRCm39) T153K probably damaging Het
Arsb A T 13: 94,075,825 (GRCm39) Y436F probably benign Het
Azgp1 C T 5: 137,983,445 (GRCm39) P40L possibly damaging Het
B020004C17Rik A G 14: 57,253,993 (GRCm39) T39A possibly damaging Het
Cacna2d3 G A 14: 29,442,834 (GRCm39) Q67* probably null Het
Cdcp2 C A 4: 106,964,369 (GRCm39) Y406* probably null Het
Cep89 T A 7: 35,128,603 (GRCm39) D585E probably benign Het
Cfap65 A G 1: 74,943,801 (GRCm39) F1570S probably damaging Het
Cnfn A G 7: 25,067,783 (GRCm39) probably benign Het
Fgd6 G A 10: 93,880,318 (GRCm39) V391I probably benign Het
Fra10ac1 C T 19: 38,189,994 (GRCm39) probably null Het
Gjd3 T C 11: 102,691,353 (GRCm39) K217E probably benign Het
Il20rb T C 9: 100,341,251 (GRCm39) E285G probably damaging Het
Ints2 T C 11: 86,103,888 (GRCm39) T1086A probably damaging Het
Itih4 A T 14: 30,609,906 (GRCm39) I79F probably damaging Het
Jmjd6 A T 11: 116,732,077 (GRCm39) L208H probably damaging Het
Lilrb4b A G 10: 51,357,253 (GRCm39) I30V possibly damaging Het
Limch1 A G 5: 67,111,016 (GRCm39) N81S probably damaging Het
Mettl21e A T 1: 44,245,759 (GRCm39) N162K possibly damaging Het
Ninl A G 2: 150,808,132 (GRCm39) S299P possibly damaging Het
Obscn A G 11: 58,964,404 (GRCm39) L3046P probably benign Het
Or1j14 C A 2: 36,417,692 (GRCm39) S89R probably benign Het
Or5b98 T A 19: 12,931,184 (GRCm39) V77E probably damaging Het
Pnpla8 G A 12: 44,330,309 (GRCm39) R287H probably benign Het
Pot1a A C 6: 25,745,913 (GRCm39) I596R possibly damaging Het
Prkaa1 A G 15: 5,206,131 (GRCm39) D329G probably damaging Het
Ptprr T G 10: 116,024,235 (GRCm39) V182G probably damaging Het
Rrp1b T A 17: 32,276,237 (GRCm39) probably benign Het
Sec24a A G 11: 51,599,794 (GRCm39) V837A probably benign Het
Slc17a6 A G 7: 51,318,840 (GRCm39) Y494C probably damaging Het
Slc38a10 A T 11: 120,019,301 (GRCm39) I360N probably damaging Het
Snrpb2 T C 2: 142,913,377 (GRCm39) F194L possibly damaging Het
Tcam1 A G 11: 106,176,212 (GRCm39) I313V probably benign Het
Trpv1 A G 11: 73,143,882 (GRCm39) N238S probably benign Het
Usp20 T C 2: 30,901,729 (GRCm39) V498A probably benign Het
Vmn2r23 T C 6: 123,706,585 (GRCm39) S472P probably damaging Het
Vmn2r98 A T 17: 19,290,107 (GRCm39) T548S possibly damaging Het
Zfp429 A T 13: 67,544,159 (GRCm39) probably benign Het
Other mutations in Or6c68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01867:Or6c68 APN 10 129,157,585 (GRCm39) missense probably benign 0.00
IGL02817:Or6c68 APN 10 129,157,764 (GRCm39) missense probably benign 0.01
IGL03121:Or6c68 APN 10 129,158,037 (GRCm39) missense probably benign 0.11
R0586:Or6c68 UTSW 10 129,157,916 (GRCm39) missense probably benign 0.01
R0601:Or6c68 UTSW 10 129,157,885 (GRCm39) missense possibly damaging 0.52
R1957:Or6c68 UTSW 10 129,157,740 (GRCm39) missense possibly damaging 0.95
R3915:Or6c68 UTSW 10 129,158,178 (GRCm39) missense probably benign 0.14
R4419:Or6c68 UTSW 10 129,157,684 (GRCm39) missense possibly damaging 0.95
R5383:Or6c68 UTSW 10 129,158,205 (GRCm39) missense probably damaging 1.00
R6030:Or6c68 UTSW 10 129,158,238 (GRCm39) missense probably benign 0.02
R6030:Or6c68 UTSW 10 129,158,238 (GRCm39) missense probably benign 0.02
R6762:Or6c68 UTSW 10 129,158,125 (GRCm39) missense probably damaging 0.97
R7259:Or6c68 UTSW 10 129,157,663 (GRCm39) missense probably benign 0.13
R7575:Or6c68 UTSW 10 129,157,728 (GRCm39) missense probably damaging 1.00
R7904:Or6c68 UTSW 10 129,157,665 (GRCm39) missense probably damaging 1.00
R8933:Or6c68 UTSW 10 129,158,259 (GRCm39) missense probably damaging 0.98
R9130:Or6c68 UTSW 10 129,157,897 (GRCm39) missense probably benign 0.00
R9529:Or6c68 UTSW 10 129,158,205 (GRCm39) missense probably damaging 1.00
Z1176:Or6c68 UTSW 10 129,158,088 (GRCm39) missense probably benign 0.11
Posted On 2016-08-02