Incidental Mutation 'R8387:Or4c11c'
ID 647188
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 067876-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R8387 (G1)
Quality Score 225.009
Status 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: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,874,698 (GRCm39) D453N probably damaging Het
Arl14ep T C 2: 106,799,562 (GRCm39) D93G probably damaging Het
Bcl7b T C 5: 135,197,413 (GRCm39) I18T probably damaging Het
Cdh1 A G 8: 107,390,501 (GRCm39) I614V probably benign Het
Cpa3 T C 3: 20,281,400 (GRCm39) I169V probably benign Het
Cpeb4 T C 11: 31,858,877 (GRCm39) probably null Het
Csmd1 G A 8: 16,050,484 (GRCm39) H2251Y possibly damaging Het
Dab2ip T A 2: 35,609,870 (GRCm39) I695K probably damaging Het
Dhtkd1 C A 2: 5,934,479 (GRCm39) L230F possibly damaging Het
Emc1 T C 4: 139,088,600 (GRCm39) S353P probably benign Het
Erc2 T A 14: 27,375,253 (GRCm39) L157Q possibly damaging Het
Flvcr1 A G 1: 190,743,731 (GRCm39) probably null Het
Fryl A C 5: 73,293,663 (GRCm39) probably null Het
Gnl2 T C 4: 124,949,127 (GRCm39) *729Q probably null Het
Gpr63 G A 4: 25,008,301 (GRCm39) V342M possibly damaging Het
Guf1 C T 5: 69,723,810 (GRCm39) P463L probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Ifngr2 T C 16: 91,358,535 (GRCm39) L245P probably damaging Het
Igsf10 A G 3: 59,236,564 (GRCm39) F1206L probably damaging Het
Ktn1 T A 14: 47,944,744 (GRCm39) probably null Het
Lekr1 A G 3: 65,591,520 (GRCm39) K86E possibly damaging Het
Lrrc3 C T 10: 77,737,346 (GRCm39) G30D possibly damaging Het
Mapk8ip2 T C 15: 89,344,897 (GRCm39) F765L probably damaging Het
Myo6 A G 9: 80,183,632 (GRCm39) T676A unknown Het
Nr4a1 T C 15: 101,171,053 (GRCm39) S510P probably damaging Het
Or2o1 T C 11: 49,051,497 (GRCm39) S219P probably damaging Het
Or4c113 T C 2: 88,885,646 (GRCm39) I41M probably benign Het
Or51e1 C T 7: 102,359,402 (GRCm39) T312I probably benign Het
Or5a1 A G 19: 12,097,785 (GRCm39) L97P probably damaging Het
Pdcd1 G A 1: 93,969,193 (GRCm39) L42F probably damaging Het
Pdzd7 T C 19: 45,018,490 (GRCm39) D621G probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pias4 G A 10: 80,990,342 (GRCm39) R398C probably benign Het
Plekha6 A T 1: 133,219,893 (GRCm39) probably null Het
Prkag3 A G 1: 74,784,854 (GRCm39) probably null Het
Ptpn7 A G 1: 135,061,606 (GRCm39) T23A probably benign Het
Ptprd T C 4: 75,873,526 (GRCm39) D1069G probably damaging Het
Ptprr A G 10: 116,087,030 (GRCm39) Y503C probably damaging Het
Slc26a8 T C 17: 28,866,899 (GRCm39) D610G probably benign Het
Smyd4 A G 11: 75,292,984 (GRCm39) N638S probably benign Het
Tenm3 A G 8: 48,740,883 (GRCm39) F1200S probably damaging Het
Tox3 A G 8: 90,984,595 (GRCm39) S195P probably benign Het
Trim44 T C 2: 102,230,518 (GRCm39) E171G probably damaging Het
Vars1 T A 17: 35,229,490 (GRCm39) M369K probably damaging Het
Vmn2r77 C A 7: 86,450,947 (GRCm39) Q278K probably benign Het
Zfp345 T C 2: 150,314,740 (GRCm39) T266A probably damaging 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
R8386: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'- CTTGGACTGACACAATGCAGC -3'
(R):5'- ATGCAAGGGTTTACAGATGGCC -3'

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