Incidental Mutation 'IGL01669:Or6c3'
ID 103401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c3
Ensembl Gene ENSMUSG00000049217
Gene Name olfactory receptor family 6 subfamily C member 3
Synonyms GA_x6K02T2PULF-11151514-11152449, Olfr788, MOR111-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL01669
Quality Score
Status
Chromosome 10
Chromosomal Location 129308563-129309498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129309080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 173 (H173R)
Ref Sequence ENSEMBL: ENSMUSP00000151054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056961] [ENSMUST00000213222]
AlphaFold Q8VFI0
Predicted Effect probably damaging
Transcript: ENSMUST00000056961
AA Change: H173R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054710
Gene: ENSMUSG00000049217
AA Change: H173R

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 1.8e-49 PFAM
Pfam:7tm_1 38 287 1.2e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213222
AA Change: H173R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 G T X: 141,126,184 (GRCm39) D313E probably damaging Het
Aifm3 A C 16: 17,321,405 (GRCm39) K453T probably benign Het
Anks1b T C 10: 90,733,100 (GRCm39) probably benign Het
Arfgef1 T C 1: 10,229,840 (GRCm39) D1287G probably damaging Het
Bcl3 G A 7: 19,546,416 (GRCm39) Q140* probably null Het
Bnipl T G 3: 95,150,045 (GRCm39) R316S probably damaging Het
Cacna1i T A 15: 80,275,958 (GRCm39) H1916Q probably benign Het
Ccdc171 C T 4: 83,599,432 (GRCm39) A749V probably damaging Het
Ceacam18 G A 7: 43,294,939 (GRCm39) G333E probably damaging Het
Cul7 G T 17: 46,969,641 (GRCm39) M969I possibly damaging Het
Cylc2 A G 4: 51,228,360 (GRCm39) T144A probably benign Het
Cyp2c50 A T 19: 40,086,495 (GRCm39) H294L probably damaging Het
D430041D05Rik T C 2: 104,085,306 (GRCm39) K1081R probably damaging Het
D930020B18Rik A G 10: 121,519,866 (GRCm39) K456R probably benign Het
Drd2 A G 9: 49,313,389 (GRCm39) N186S possibly damaging Het
Fanci A T 7: 79,098,925 (GRCm39) E1306D probably benign Het
Fbxl21 T A 13: 56,675,522 (GRCm39) probably benign Het
Galk2 T A 2: 125,729,807 (GRCm39) Y63N probably damaging Het
Git2 T C 5: 114,905,166 (GRCm39) D97G probably damaging Het
Gm8258 T A 5: 104,923,940 (GRCm39) noncoding transcript Het
Irf4 G T 13: 30,941,454 (GRCm39) S270I probably damaging Het
Itgb3 C A 11: 104,524,216 (GRCm39) probably benign Het
Itpr2 A C 6: 146,081,727 (GRCm39) I2299R probably damaging Het
Lig4 T C 8: 10,023,673 (GRCm39) I36V probably benign Het
Nedd9 A G 13: 41,492,111 (GRCm39) V133A probably damaging Het
Nup133 A C 8: 124,665,869 (GRCm39) Y185* probably null Het
Or51b6b A T 7: 103,310,194 (GRCm39) F88I probably benign Het
Or5d14 T C 2: 87,880,128 (GRCm39) Y280C possibly damaging Het
Pgbd5 T A 8: 125,101,138 (GRCm39) T373S possibly damaging Het
Ppp1r8 T C 4: 132,555,480 (GRCm39) E246G probably benign Het
Rmnd5b C T 11: 51,518,727 (GRCm39) V89M probably damaging Het
Rnf123 T C 9: 107,935,555 (GRCm39) I969V probably damaging Het
Ror2 A G 13: 53,265,124 (GRCm39) I656T probably damaging Het
Sgsm1 T C 5: 113,411,356 (GRCm39) E503G probably benign Het
Smgc T A 15: 91,744,882 (GRCm39) S381T possibly damaging Het
Tlr4 T G 4: 66,759,504 (GRCm39) F766V possibly damaging Het
Tnc T C 4: 63,918,938 (GRCm39) T1162A probably damaging Het
Usp39 A G 6: 72,315,476 (GRCm39) V156A probably damaging Het
Zdhhc5 A G 2: 84,521,538 (GRCm39) Y352H probably damaging Het
Zfp646 A G 7: 127,478,137 (GRCm39) T105A probably benign Het
Other mutations in Or6c3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02393:Or6c3 APN 10 129,309,064 (GRCm39) missense probably damaging 1.00
IGL03010:Or6c3 APN 10 129,308,843 (GRCm39) missense probably damaging 1.00
IGL03325:Or6c3 APN 10 129,309,474 (GRCm39) missense probably benign 0.02
R1298:Or6c3 UTSW 10 129,308,933 (GRCm39) missense probably damaging 1.00
R2215:Or6c3 UTSW 10 129,309,289 (GRCm39) missense probably damaging 0.99
R5482:Or6c3 UTSW 10 129,308,947 (GRCm39) missense probably benign 0.31
R5699:Or6c3 UTSW 10 129,308,746 (GRCm39) missense probably damaging 1.00
R5794:Or6c3 UTSW 10 129,309,295 (GRCm39) missense possibly damaging 0.95
R6436:Or6c3 UTSW 10 129,308,773 (GRCm39) missense probably damaging 0.98
R6480:Or6c3 UTSW 10 129,308,590 (GRCm39) missense possibly damaging 0.62
R6884:Or6c3 UTSW 10 129,309,023 (GRCm39) missense probably damaging 1.00
R7908:Or6c3 UTSW 10 129,308,867 (GRCm39) missense probably damaging 1.00
R8056:Or6c3 UTSW 10 129,309,061 (GRCm39) missense probably benign 0.07
R8207:Or6c3 UTSW 10 129,308,953 (GRCm39) missense probably benign 0.09
R8777:Or6c3 UTSW 10 129,309,374 (GRCm39) missense possibly damaging 0.93
R8777-TAIL:Or6c3 UTSW 10 129,309,374 (GRCm39) missense possibly damaging 0.93
R8998:Or6c3 UTSW 10 129,309,386 (GRCm39) missense probably benign 0.36
R8999:Or6c3 UTSW 10 129,309,386 (GRCm39) missense probably benign 0.36
R9154:Or6c3 UTSW 10 129,308,690 (GRCm39) missense probably benign 0.20
Z1176:Or6c3 UTSW 10 129,309,484 (GRCm39) missense probably benign 0.04
Z1177:Or6c3 UTSW 10 129,308,933 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21