Incidental Mutation 'IGL03038:Or6c88'
ID 408779
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c88
Ensembl Gene ENSMUSG00000044293
Gene Name olfactory receptor family 6 subfamily C member 88
Synonyms MOR114-11, Olfr794, GA_x6K02T2PULF-11248702-11249664
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # IGL03038
Quality Score
Status
Chromosome 10
Chromosomal Location 129406526-129407488 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129406790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 89 (T89A)
Ref Sequence ENSEMBL: ENSMUSP00000145301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059957] [ENSMUST00000204820]
AlphaFold Q8VF26
Predicted Effect probably benign
Transcript: ENSMUST00000059957
AA Change: T89A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000049790
Gene: ENSMUSG00000044293
AA Change: T89A

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.8e-49 PFAM
Pfam:7tm_1 39 288 2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204820
AA Change: T89A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000145301
Gene: ENSMUSG00000044293
AA Change: T89A

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.8e-49 PFAM
Pfam:7tm_1 39 288 2e-22 PFAM
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
Acadsb T C 7: 131,030,185 (GRCm39) Y111H probably damaging Het
Arhgef6 C T X: 56,290,966 (GRCm39) V262I probably benign Het
Arsk C A 13: 76,213,632 (GRCm39) probably benign Het
Ces1b T C 8: 93,793,680 (GRCm39) E303G probably benign Het
Chst9 T C 18: 15,628,360 (GRCm39) Q55R probably benign Het
Cntnap3 A T 13: 64,888,839 (GRCm39) D1153E possibly damaging Het
D130043K22Rik A G 13: 25,063,602 (GRCm39) E681G probably damaging Het
Fhad1 T C 4: 141,729,805 (GRCm39) E66G probably benign Het
Flii T C 11: 60,615,658 (GRCm39) T69A probably benign Het
Foxl1 A C 8: 121,855,158 (GRCm39) E153A probably damaging Het
Gstm3 T C 3: 107,873,485 (GRCm39) D162G possibly damaging Het
Gtpbp3 G A 8: 71,941,947 (GRCm39) V96I possibly damaging Het
Insig2 G A 1: 121,247,403 (GRCm39) T56I probably damaging Het
Kif13a A G 13: 46,926,314 (GRCm39) L264P probably damaging Het
Lama3 T G 18: 12,552,307 (GRCm39) C420G probably damaging Het
Lrp2 C T 2: 69,305,808 (GRCm39) G2918S probably damaging Het
Lrrc8b T C 5: 105,629,358 (GRCm39) L568P probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Malrd1 G A 2: 16,132,778 (GRCm39) D1900N unknown Het
Mastl C A 2: 23,030,627 (GRCm39) probably benign Het
Med24 T G 11: 98,607,010 (GRCm39) T276P possibly damaging Het
Naip1 A C 13: 100,573,841 (GRCm39) Y239* probably null Het
Nhsl2 A G X: 101,122,491 (GRCm39) K765E probably damaging Het
Npy A G 6: 49,800,588 (GRCm39) N4S probably benign Het
Nsun2 A G 13: 69,767,703 (GRCm39) D188G probably damaging Het
Pde1a C A 2: 79,718,290 (GRCm39) probably benign Het
Pik3cb G A 9: 98,947,650 (GRCm39) A509V probably damaging Het
Pou2f2 C T 7: 24,796,577 (GRCm39) S315N probably damaging Het
Prdm2 A C 4: 142,860,571 (GRCm39) S906R probably damaging Het
Prkaca C A 8: 84,721,580 (GRCm39) Q300K probably benign Het
Prox2 T C 12: 85,142,038 (GRCm39) D55G possibly damaging Het
Ryr3 T A 2: 112,498,465 (GRCm39) T3612S possibly damaging Het
S1pr1 T A 3: 115,506,343 (GRCm39) I84L possibly damaging Het
Slc47a1 C T 11: 61,243,918 (GRCm39) V384M probably benign Het
Slc6a20b T C 9: 123,426,394 (GRCm39) N497S possibly damaging Het
Spen C A 4: 141,265,550 (GRCm39) R3L unknown Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Ttll6 T C 11: 96,042,786 (GRCm39) F444S probably damaging Het
Vwce T A 19: 10,624,035 (GRCm39) Y309N possibly damaging Het
Vwf T C 6: 125,581,120 (GRCm39) L586P possibly damaging Het
Wdr35 T C 12: 9,024,185 (GRCm39) probably benign Het
Other mutations in Or6c88
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01867:Or6c88 APN 10 129,406,696 (GRCm39) missense possibly damaging 0.95
IGL02157:Or6c88 APN 10 129,407,019 (GRCm39) missense probably damaging 1.00
IGL02804:Or6c88 APN 10 129,407,306 (GRCm39) missense possibly damaging 0.60
IGL02833:Or6c88 APN 10 129,406,619 (GRCm39) missense probably benign 0.26
IGL02930:Or6c88 APN 10 129,407,184 (GRCm39) missense probably damaging 1.00
G4846:Or6c88 UTSW 10 129,407,039 (GRCm39) missense probably damaging 1.00
R1539:Or6c88 UTSW 10 129,406,640 (GRCm39) missense probably damaging 0.99
R1737:Or6c88 UTSW 10 129,406,697 (GRCm39) missense probably damaging 1.00
R1845:Or6c88 UTSW 10 129,407,217 (GRCm39) missense probably damaging 1.00
R2198:Or6c88 UTSW 10 129,406,915 (GRCm39) nonsense probably null
R3086:Or6c88 UTSW 10 129,407,276 (GRCm39) missense probably damaging 1.00
R4960:Or6c88 UTSW 10 129,406,895 (GRCm39) missense probably damaging 1.00
R5938:Or6c88 UTSW 10 129,407,396 (GRCm39) missense probably damaging 1.00
R6326:Or6c88 UTSW 10 129,406,571 (GRCm39) missense possibly damaging 0.74
R6598:Or6c88 UTSW 10 129,407,238 (GRCm39) missense probably damaging 1.00
R7034:Or6c88 UTSW 10 129,406,941 (GRCm39) missense possibly damaging 0.91
R7066:Or6c88 UTSW 10 129,407,373 (GRCm39) missense probably damaging 1.00
R7226:Or6c88 UTSW 10 129,406,584 (GRCm39) missense probably benign 0.01
R7324:Or6c88 UTSW 10 129,406,718 (GRCm39) missense probably damaging 1.00
R7408:Or6c88 UTSW 10 129,406,493 (GRCm39) start gained probably benign
R7779:Or6c88 UTSW 10 129,407,180 (GRCm39) missense probably damaging 1.00
R8733:Or6c88 UTSW 10 129,406,579 (GRCm39) missense possibly damaging 0.90
R8891:Or6c88 UTSW 10 129,407,046 (GRCm39) missense probably damaging 0.99
R8931:Or6c88 UTSW 10 129,406,550 (GRCm39) missense probably benign 0.09
R9310:Or6c88 UTSW 10 129,406,687 (GRCm39) missense probably benign 0.00
R9681:Or6c88 UTSW 10 129,406,664 (GRCm39) missense probably damaging 1.00
Z1176:Or6c88 UTSW 10 129,407,105 (GRCm39) nonsense probably null
Posted On 2016-08-02