Incidental Mutation 'IGL03112:Or6c1'
ID 419221
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6c1
Ensembl Gene ENSMUSG00000093866
Gene Name olfactory receptor family 6 subfamily C member 1
Synonyms MOR111-1, Olfr802, GA_x6K02T2PULF-11361362-11360424
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03112
Quality Score
Status
Chromosome 10
Chromosomal Location 129517668-129518606 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129517792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 272 (V272A)
Ref Sequence ENSEMBL: ENSMUSP00000074275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074713] [ENSMUST00000203785] [ENSMUST00000217576]
AlphaFold Q8VGJ2
Predicted Effect probably benign
Transcript: ENSMUST00000074713
AA Change: V272A

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000074275
Gene: ENSMUSG00000093866
AA Change: V272A

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 6.8e-56 PFAM
Pfam:7tm_1 39 288 2.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203785
AA Change: V272A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000144741
Gene: ENSMUSG00000093866
AA Change: V272A

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 6.8e-56 PFAM
Pfam:7tm_1 39 288 2.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217576
AA Change: V272A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
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
Adam26b T C 8: 43,974,549 (GRCm39) N151S probably benign Het
Adgre1 G A 17: 57,755,029 (GRCm39) probably null Het
Apol11a T A 15: 77,401,509 (GRCm39) L332Q probably damaging Het
B430306N03Rik C T 17: 48,623,834 (GRCm39) S45L probably benign Het
Cend1 G A 7: 141,007,640 (GRCm39) T60M probably benign Het
Col6a3 C A 1: 90,739,242 (GRCm39) E329* probably null Het
Col9a3 A G 2: 180,249,435 (GRCm39) R266G possibly damaging Het
Defb48 C T 14: 63,221,854 (GRCm39) probably benign Het
Eps8l2 T G 7: 140,941,649 (GRCm39) L640R probably damaging Het
Exoc2 T A 13: 31,090,570 (GRCm39) probably benign Het
Fam149a C T 8: 45,801,580 (GRCm39) V514M possibly damaging Het
Fbxo25 A T 8: 13,971,034 (GRCm39) D74V probably benign Het
Gm11733 A G 11: 117,377,966 (GRCm39) *126W probably null Het
Grm8 C T 6: 27,363,262 (GRCm39) C751Y probably damaging Het
Kctd16 A T 18: 40,391,853 (GRCm39) D147V probably benign Het
Lclat1 A T 17: 73,546,742 (GRCm39) T220S probably damaging Het
Lgi1 T A 19: 38,272,478 (GRCm39) H116Q possibly damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Lsm4 T A 8: 71,130,656 (GRCm39) I60N probably damaging Het
Morn1 T A 4: 155,177,601 (GRCm39) Y178N probably damaging Het
Mybl2 A G 2: 162,904,456 (GRCm39) E89G probably damaging Het
Myo18b T C 5: 113,021,856 (GRCm39) E512G probably benign Het
Myrfl A T 10: 116,639,311 (GRCm39) S583T probably benign Het
Nek6 A G 2: 38,450,914 (GRCm39) I106V probably damaging Het
Oas1a A T 5: 121,036,412 (GRCm39) D338E possibly damaging Het
Or10ag52 T A 2: 87,043,944 (GRCm39) I236N probably damaging Het
Or4a76 G A 2: 89,460,678 (GRCm39) T188I probably benign Het
Pitrm1 C A 13: 6,615,044 (GRCm39) Q508K probably benign Het
S100b A G 10: 76,095,808 (GRCm39) D62G probably damaging Het
Sesn3 A G 9: 14,221,557 (GRCm39) H119R probably damaging Het
Sez6l T A 5: 112,621,333 (GRCm39) E247V probably damaging Het
Shoc1 G T 4: 59,049,355 (GRCm39) Q1069K probably benign Het
Shq1 C A 6: 100,550,574 (GRCm39) E455* probably null Het
Slc9b1 T A 3: 135,103,433 (GRCm39) M521K probably damaging Het
Supt16 A G 14: 52,413,855 (GRCm39) F543L probably damaging Het
Tcf25 T C 8: 124,109,258 (GRCm39) probably benign Het
Usp48 C A 4: 137,335,375 (GRCm39) Q183K probably damaging Het
Vmn1r178 G A 7: 23,593,086 (GRCm39) G45S probably damaging Het
Vmn1r237 T A 17: 21,534,368 (GRCm39) Y30* probably null Het
Other mutations in Or6c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02939:Or6c1 APN 10 129,517,857 (GRCm39) nonsense probably null
R0366:Or6c1 UTSW 10 129,517,840 (GRCm39) missense possibly damaging 0.72
R0463:Or6c1 UTSW 10 129,517,708 (GRCm39) missense probably benign 0.11
R0579:Or6c1 UTSW 10 129,518,106 (GRCm39) nonsense probably null
R1769:Or6c1 UTSW 10 129,518,081 (GRCm39) missense probably benign 0.15
R2128:Or6c1 UTSW 10 129,518,401 (GRCm39) missense possibly damaging 0.78
R2375:Or6c1 UTSW 10 129,518,032 (GRCm39) missense probably benign 0.04
R3888:Or6c1 UTSW 10 129,518,088 (GRCm39) missense probably benign 0.43
R3888:Or6c1 UTSW 10 129,518,087 (GRCm39) missense possibly damaging 0.94
R4956:Or6c1 UTSW 10 129,517,968 (GRCm39) missense probably benign 0.00
R5471:Or6c1 UTSW 10 129,517,925 (GRCm39) missense probably damaging 1.00
R5588:Or6c1 UTSW 10 129,517,705 (GRCm39) missense possibly damaging 0.72
R7305:Or6c1 UTSW 10 129,518,149 (GRCm39) missense probably damaging 0.99
R7969:Or6c1 UTSW 10 129,517,699 (GRCm39) missense probably benign
R7995:Or6c1 UTSW 10 129,518,509 (GRCm39) missense probably damaging 1.00
R9142:Or6c1 UTSW 10 129,518,285 (GRCm39) missense probably benign 0.03
Posted On 2016-08-02