Incidental Mutation 'R8386:Or4c11c'
ID 647150
Institutional Source Beutler Lab
Gene Symbol Or4c11c
Ensembl Gene ENSMUSG00000057447
Gene Name olfactory receptor family 4 subfamily C member 11C
Synonyms GA_x6K02T2Q125-50336588-50337313, MOR230-1, MOR230-3, Olfr1205, GA_x6K02T2Q125-50304328-50305251, Olfr1203
MMRRC Submission 067752-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R8386 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 88660101-88662386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88661633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 57 (M57I)
Ref Sequence ENSEMBL: ENSMUSP00000075769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076438] [ENSMUST00000215929]
AlphaFold A2ATJ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000076438
AA Change: M57I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075769
Gene: ENSMUSG00000057447
AA Change: M57I

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 5e-45 PFAM
Pfam:7tm_1 39 285 9.1e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215929
AA Change: M57I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 G T 11: 110,021,518 (GRCm39) A1064D probably damaging Het
Adgb A G 10: 10,226,048 (GRCm39) I1390T probably damaging Het
Aktip G A 8: 91,857,674 (GRCm39) R13C probably benign Het
Arnt2 T A 7: 83,996,747 (GRCm39) I71F probably damaging Het
Casr T A 16: 36,335,950 (GRCm39) I120F probably damaging Het
Cilp G A 9: 65,186,286 (GRCm39) G794S probably damaging Het
Cntnap1 A T 11: 101,073,029 (GRCm39) R544S probably damaging Het
Cse1l T C 2: 166,761,604 (GRCm39) S53P probably benign Het
Cyfip1 T C 7: 55,527,488 (GRCm39) S207P probably damaging Het
Fam120b G A 17: 15,643,246 (GRCm39) S675N probably benign Het
Fcna C T 2: 25,516,027 (GRCm39) W163* probably null Het
Gast A G 11: 100,227,691 (GRCm39) D91G probably damaging Het
Igkv6-14 T C 6: 70,411,966 (GRCm39) Y106C probably damaging Het
Lin28b A G 10: 45,345,140 (GRCm39) V62A probably damaging Het
Malrd1 T A 2: 15,701,655 (GRCm39) S757T unknown Het
Ms4a15 A T 19: 10,970,546 (GRCm39) C3S unknown Het
Muc5ac G A 7: 141,361,371 (GRCm39) V1561I possibly damaging Het
Ndufb11b C T 15: 81,864,830 (GRCm39) L24F probably damaging Het
Or5p70 TTTCTTCTTCT TTTCTTCT 7: 107,994,555 (GRCm39) probably benign Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Ppp1r3c T C 19: 36,711,338 (GRCm39) D144G probably damaging Het
Setd1b T A 5: 123,282,319 (GRCm39) V149D unknown Het
Shcbp1 A C 8: 4,817,951 (GRCm39) W115G probably damaging Het
Shroom1 A T 11: 53,357,230 (GRCm39) K631M probably damaging Het
Sipa1l2 A T 8: 126,218,832 (GRCm39) S168R probably damaging Het
Slc12a4 A T 8: 106,678,250 (GRCm39) N314K probably damaging Het
Syngap1 T A 17: 27,179,465 (GRCm39) M755K possibly damaging Het
Tnik A G 3: 28,317,823 (GRCm39) D11G unknown Het
Trim80 A G 11: 115,335,900 (GRCm39) D274G probably damaging Het
Ush2a A G 1: 188,460,403 (GRCm39) T2555A possibly damaging Het
Vps13a A T 19: 16,678,483 (GRCm39) probably null Het
Wnt7a C T 6: 91,343,270 (GRCm39) G204D probably damaging Het
Zfp420 A T 7: 29,575,043 (GRCm39) Y421F probably benign Het
Zfp882 A G 8: 72,667,962 (GRCm39) H263R probably benign Het
Other mutations in Or4c11c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Or4c11c APN 2 88,661,456 (GRCm39) splice site probably null
IGL02079:Or4c11c APN 2 88,661,991 (GRCm39) missense probably damaging 1.00
IGL02183:Or4c11c APN 2 88,662,372 (GRCm39) missense probably benign
IGL02813:Or4c11c APN 2 88,661,495 (GRCm39) missense probably benign 0.34
IGL02839:Or4c11c APN 2 88,661,992 (GRCm39) missense probably damaging 1.00
IGL02895:Or4c11c APN 2 88,661,986 (GRCm39) missense probably damaging 1.00
R0680:Or4c11c UTSW 2 88,662,124 (GRCm39) missense probably benign
R2029:Or4c11c UTSW 2 88,661,749 (GRCm39) missense possibly damaging 0.88
R2095:Or4c11c UTSW 2 88,661,634 (GRCm39) missense probably damaging 1.00
R6158:Or4c11c UTSW 2 88,661,490 (GRCm39) missense probably damaging 1.00
R6216:Or4c11c UTSW 2 88,661,655 (GRCm39) missense probably damaging 1.00
R6240:Or4c11c UTSW 2 88,661,707 (GRCm39) missense probably benign 0.22
R6377:Or4c11c UTSW 2 88,661,613 (GRCm39) nonsense probably null
R6429:Or4c11c UTSW 2 88,661,869 (GRCm39) missense probably benign 0.01
R6521:Or4c11c UTSW 2 88,661,700 (GRCm39) missense probably benign 0.03
R7065:Or4c11c UTSW 2 88,661,730 (GRCm39) missense probably damaging 1.00
R7343:Or4c11c UTSW 2 88,662,190 (GRCm39) missense probably damaging 1.00
R7476:Or4c11c UTSW 2 88,661,932 (GRCm39) missense probably benign 0.07
R7570:Or4c11c UTSW 2 88,661,472 (GRCm39) missense possibly damaging 0.82
R8303:Or4c11c UTSW 2 88,661,633 (GRCm39) missense possibly damaging 0.90
R8306:Or4c11c UTSW 2 88,661,633 (GRCm39) missense possibly damaging 0.90
R8307:Or4c11c UTSW 2 88,661,633 (GRCm39) missense possibly damaging 0.90
R8308:Or4c11c UTSW 2 88,661,633 (GRCm39) missense possibly damaging 0.90
R8344:Or4c11c UTSW 2 88,661,727 (GRCm39) missense probably benign 0.00
R8387:Or4c11c UTSW 2 88,661,633 (GRCm39) missense possibly damaging 0.90
R8809:Or4c11c UTSW 2 88,662,256 (GRCm39) missense probably benign 0.01
R8894:Or4c11c UTSW 2 88,661,809 (GRCm39) missense probably benign 0.12
Z1176:Or4c11c UTSW 2 88,661,922 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTTGGACTGACACAATGCAG -3'
(R):5'- TGCAAGGGTTTACAGATGGC -3'

Sequencing Primer
(F):5'- TGCAGCAGAACAGCACTGTC -3'
(R):5'- GTTTACAGATGGCCACATAACGGTC -3'
Posted On 2020-09-02