Incidental Mutation 'IGL01138:Or13c7c'
ID 50969
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or13c7c
Ensembl Gene ENSMUSG00000111611
Gene Name olfactory receptor family 13 subfamily C member 7C
Synonyms MOR262-12, Olfr157, mOR37c, Olfr37c, OR37C, GA_x6K02T2N78B-16110014-16110970
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # IGL01138
Quality Score
Status
Chromosome 4
Chromosomal Location 43834752-43837643 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43835617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 291 (L291P)
Ref Sequence ENSEMBL: ENSMUSP00000150429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079234] [ENSMUST00000214281] [ENSMUST00000215442]
AlphaFold Q9QZ20
Predicted Effect probably damaging
Transcript: ENSMUST00000079234
AA Change: L291P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078226
Gene: ENSMUSG00000110970
AA Change: L291P

DomainStartEndE-ValueType
Pfam:7tm_4 31 314 4.8e-58 PFAM
Pfam:7tm_1 41 296 2.9e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214281
AA Change: L291P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215442
AA Change: L291P

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 61,002,673 (GRCm39) V27A probably benign Het
Abcg5 T A 17: 84,972,275 (GRCm39) R499S possibly damaging Het
Adamts13 T C 2: 26,873,054 (GRCm39) S341P probably damaging Het
Adgrg1 T A 8: 95,730,085 (GRCm39) C96S probably damaging Het
Arhgap44 A G 11: 64,932,275 (GRCm39) F215S probably damaging Het
Arhgef25 A G 10: 127,020,039 (GRCm39) F400L probably damaging Het
Baz1a T C 12: 54,977,110 (GRCm39) E384G probably damaging Het
Col12a1 T C 9: 79,585,335 (GRCm39) D1314G probably damaging Het
Col6a3 T A 1: 90,735,232 (GRCm39) I806F probably damaging Het
Coro1c G A 5: 113,990,222 (GRCm39) probably benign Het
Dnmt3b A T 2: 153,503,361 (GRCm39) D4V probably benign Het
Ermn G T 2: 57,942,707 (GRCm39) L8M possibly damaging Het
F13b T A 1: 139,444,950 (GRCm39) N533K probably damaging Het
Fam171a1 T C 2: 3,203,657 (GRCm39) V93A possibly damaging Het
Gpr107 T A 2: 31,062,028 (GRCm39) L152Q probably benign Het
Guca1a C A 17: 47,711,309 (GRCm39) E12D probably damaging Het
Igtp A G 11: 58,096,970 (GRCm39) N47S possibly damaging Het
Lratd2 T A 15: 60,694,967 (GRCm39) I260F probably damaging Het
Lrrc8e A G 8: 4,284,084 (GRCm39) N103S probably damaging Het
Lsmem1 A G 12: 40,230,698 (GRCm39) L68P probably damaging Het
Maml3 A G 3: 51,597,979 (GRCm39) S902P possibly damaging Het
Mkln1 A T 6: 31,409,925 (GRCm39) N188Y probably damaging Het
Mlxip C T 5: 123,588,219 (GRCm39) R771W probably damaging Het
Myf6 T C 10: 107,330,259 (GRCm39) R103G probably damaging Het
Ncam2 T A 16: 81,314,467 (GRCm39) I481K probably damaging Het
Nrap T A 19: 56,343,970 (GRCm39) S645C probably damaging Het
Nup205 G T 6: 35,185,019 (GRCm39) E813* probably null Het
Plekhg5 C T 4: 152,191,435 (GRCm39) R410W probably damaging Het
Pnma8b C A 7: 16,679,088 (GRCm39) T24K unknown Het
Polq A T 16: 36,866,231 (GRCm39) Y476F possibly damaging Het
Prkd2 T C 7: 16,582,736 (GRCm39) S200P probably damaging Het
Rif1 C A 2: 52,001,534 (GRCm39) L1663I probably damaging Het
Serpina5 A G 12: 104,070,003 (GRCm39) Y300C possibly damaging Het
Shroom4 T C X: 6,497,257 (GRCm39) S806P probably damaging Het
Sirpa T C 2: 129,472,085 (GRCm39) V290A probably damaging Het
Slc25a47 C T 12: 108,821,948 (GRCm39) R246C probably damaging Het
Slc9a6 A G X: 55,668,791 (GRCm39) D199G probably damaging Het
Smarca5 T A 8: 81,427,705 (GRCm39) K1048M possibly damaging Het
Sos2 C T 12: 69,663,623 (GRCm39) probably benign Het
Trpm5 T A 7: 142,628,306 (GRCm39) M990L probably benign Het
Vmn2r99 A T 17: 19,602,885 (GRCm39) T547S probably damaging Het
Vps13b T C 15: 35,446,916 (GRCm39) probably benign Het
Zfp994 G A 17: 22,421,649 (GRCm39) probably benign Het
Other mutations in Or13c7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1406:Or13c7c UTSW 4 43,835,582 (GRCm39) missense possibly damaging 0.69
R1406:Or13c7c UTSW 4 43,835,582 (GRCm39) missense possibly damaging 0.69
R4386:Or13c7c UTSW 4 43,836,124 (GRCm39) missense probably benign 0.44
R4673:Or13c7c UTSW 4 43,836,430 (GRCm39) missense probably benign 0.28
R5119:Or13c7c UTSW 4 43,836,433 (GRCm39) missense probably benign
R5150:Or13c7c UTSW 4 43,836,301 (GRCm39) missense probably damaging 1.00
R5379:Or13c7c UTSW 4 43,836,010 (GRCm39) missense probably benign
R6027:Or13c7c UTSW 4 43,835,842 (GRCm39) missense probably benign 0.03
R6542:Or13c7c UTSW 4 43,835,686 (GRCm39) missense probably benign 0.02
R8696:Or13c7c UTSW 4 43,836,193 (GRCm39) missense probably benign 0.00
R9360:Or13c7c UTSW 4 43,835,765 (GRCm39) missense probably benign 0.44
R9418:Or13c7c UTSW 4 43,835,879 (GRCm39) missense probably benign 0.21
Posted On 2013-06-21