Incidental Mutation 'IGL01867:Or6c68'
ID 178544
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 # IGL01867
Quality Score
Status
Chromosome 10
Chromosomal Location 129157494-129158432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129157585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 31 (I31T)
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: I31T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000054927
Gene: ENSMUSG00000049573
AA Change: I31T

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: I31T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,635,364 (GRCm39) E213G probably benign Het
Akap6 T C 12: 52,934,791 (GRCm39) L761P probably damaging Het
Bbs7 A C 3: 36,627,696 (GRCm39) L697R probably benign Het
Cd74 G A 18: 60,941,352 (GRCm39) R99H probably benign Het
Cpne6 A G 14: 55,751,137 (GRCm39) N182S probably benign Het
Cyp4f17 A G 17: 32,747,057 (GRCm39) H429R probably benign Het
Dact2 A T 17: 14,415,932 (GRCm39) M756K probably damaging Het
Ets1 A G 9: 32,645,455 (GRCm39) D234G probably damaging Het
Fat3 A C 9: 16,289,197 (GRCm39) S109A probably benign Het
Fras1 G T 5: 96,735,990 (GRCm39) M528I probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gtf3c1 A G 7: 125,261,548 (GRCm39) F1189L probably benign Het
Ift81 A T 5: 122,740,739 (GRCm39) probably benign Het
Insyn2b A G 11: 34,353,065 (GRCm39) E369G probably benign Het
Lag3 A G 6: 124,887,869 (GRCm39) S22P probably benign Het
Mos G T 4: 3,870,845 (GRCm39) Q324K probably benign Het
Mtx2 T A 2: 74,706,733 (GRCm39) V236E probably damaging Het
Naip6 T C 13: 100,436,820 (GRCm39) T568A probably benign Het
Or5k8 A G 16: 58,644,337 (GRCm39) F245S probably damaging Het
Or6c35 T A 10: 129,169,232 (GRCm39) L161M probably damaging Het
Or6c88 G A 10: 129,406,696 (GRCm39) M57I possibly damaging Het
Or8b53 A C 9: 38,667,194 (GRCm39) D70A probably damaging Het
Pcid2 A G 8: 13,128,243 (GRCm39) V386A probably benign Het
Pde8b T C 13: 95,237,446 (GRCm39) D116G probably damaging Het
Plxnc1 A G 10: 94,634,008 (GRCm39) V1365A possibly damaging Het
Prex2 G T 1: 11,168,727 (GRCm39) C241F probably benign Het
Prr23a2 A G 9: 98,739,113 (GRCm39) E157G probably benign Het
Ptpn4 A T 1: 119,603,329 (GRCm39) H836Q probably benign Het
Ptprd C T 4: 76,161,884 (GRCm39) R117H probably damaging Het
Rab11fip4 T C 11: 79,574,216 (GRCm39) S102P probably benign Het
Slc44a1 G T 4: 53,536,405 (GRCm39) V194F probably damaging Het
Synm T A 7: 67,383,222 (GRCm39) H1480L probably benign Het
Tmem63a A G 1: 180,783,570 (GRCm39) Y175C possibly damaging Het
Trmt61a C T 12: 111,645,150 (GRCm39) R29C probably benign Het
Ubap1 C T 4: 41,379,236 (GRCm39) T150I probably benign Het
Uimc1 T C 13: 55,223,214 (GRCm39) M353V probably benign Het
Usp34 T C 11: 23,334,411 (GRCm39) M1135T possibly damaging Het
Vmn1r25 A C 6: 57,956,196 (GRCm39) L31R probably damaging Het
Wtap T C 17: 13,188,342 (GRCm39) E186G probably benign Het
Wwc2 T G 8: 48,336,615 (GRCm39) N216H probably benign Het
Zhx1 A T 15: 57,917,841 (GRCm39) M135K probably damaging Het
Other mutations in Or6c68
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03396:Or6c68 APN 10 129,157,916 (GRCm39) missense probably benign 0.01
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 2014-05-07