Incidental Mutation 'R2341:Or4c11b'
ID 246737
Institutional Source Beutler Lab
Gene Symbol Or4c11b
Ensembl Gene ENSMUSG00000059023
Gene Name olfactory receptor family 4 subfamily C member 11B
Synonyms GA_x6K02T2Q125-50268830-50269753, Olfr1201, MOR230-2
MMRRC Submission 040327-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R2341 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 88624728-88625651 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88624989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 88 (N88D)
Ref Sequence ENSEMBL: ENSMUSP00000150454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073458] [ENSMUST00000216213]
AlphaFold Q8VGF5
Predicted Effect probably benign
Transcript: ENSMUST00000073458
AA Change: N88D

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000073163
Gene: ENSMUSG00000059023
AA Change: N88D

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.4e-46 PFAM
Pfam:7TM_GPCR_Srsx 32 300 3.3e-5 PFAM
Pfam:7tm_1 39 285 3e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214018
Predicted Effect probably benign
Transcript: ENSMUST00000216213
AA Change: N88D

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 97% (36/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 59,888,212 (GRCm39) V76A possibly damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Anapc4 T C 5: 52,999,279 (GRCm39) probably benign Het
Anxa4 A G 6: 86,720,135 (GRCm39) S144P probably benign Het
Bcr A G 10: 74,966,944 (GRCm39) E517G probably damaging Het
Ccdc57 T C 11: 120,751,349 (GRCm39) E907G probably benign Het
Chd6 TG T 2: 160,807,679 (GRCm39) probably null Het
Dock6 A G 9: 21,750,782 (GRCm39) probably benign Het
Dock8 A G 19: 25,177,757 (GRCm39) K2031E probably damaging Het
Gm5444 T C 13: 4,884,344 (GRCm39) noncoding transcript Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Ifna16 A G 4: 88,594,565 (GRCm39) S177P probably damaging Het
Ino80d T C 1: 63,104,985 (GRCm39) N364D possibly damaging Het
Ltbp2 T C 12: 84,855,937 (GRCm39) T769A probably benign Het
Ms4a20 T A 19: 11,083,157 (GRCm39) M88L probably benign Het
Mug1 T C 6: 121,861,588 (GRCm39) V1350A probably benign Het
Nedd9 A G 13: 41,469,987 (GRCm39) S389P probably damaging Het
Or10ag57 A T 2: 87,218,084 (GRCm39) I12F probably benign Het
Or8h8 T C 2: 86,752,982 (GRCm39) K298R possibly damaging Het
Pole A T 5: 110,478,829 (GRCm39) I28F possibly damaging Het
Prkce C A 17: 86,781,870 (GRCm39) P180T probably damaging Het
Ralgapa1 T C 12: 55,723,909 (GRCm39) H1995R possibly damaging Het
Rnf144b A G 13: 47,373,976 (GRCm39) K58E probably benign Het
Rnf43 A G 11: 87,622,851 (GRCm39) R651G probably damaging Het
Scel A T 14: 103,845,606 (GRCm39) L580F possibly damaging Het
Scn4b G A 9: 45,059,127 (GRCm39) V133M probably damaging Het
Sipa1l3 T C 7: 29,077,060 (GRCm39) N904S probably damaging Het
Sun5 A G 2: 153,709,422 (GRCm39) probably benign Het
Tanc2 T C 11: 105,725,877 (GRCm39) V347A probably benign Het
Tmem245 T C 4: 56,937,957 (GRCm39) Y197C probably damaging Het
Usp30 C T 5: 114,249,241 (GRCm39) R182* probably null Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Vps35 T C 8: 86,001,443 (GRCm39) probably benign Het
Xkr7 G A 2: 152,896,318 (GRCm39) V391M possibly damaging Het
Ythdf3 A T 3: 16,257,379 (GRCm39) probably benign Het
Zfp110 T C 7: 12,583,113 (GRCm39) V587A probably benign Het
Other mutations in Or4c11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Or4c11b APN 2 88,625,637 (GRCm39) missense probably benign
IGL02292:Or4c11b APN 2 88,625,631 (GRCm39) missense probably benign
IGL03037:Or4c11b APN 2 88,625,299 (GRCm39) missense probably damaging 1.00
R3900:Or4c11b UTSW 2 88,625,273 (GRCm39) missense possibly damaging 0.88
R6394:Or4c11b UTSW 2 88,625,296 (GRCm39) missense probably benign 0.22
R7276:Or4c11b UTSW 2 88,625,025 (GRCm39) missense probably damaging 1.00
R9106:Or4c11b UTSW 2 88,625,016 (GRCm39) missense probably benign 0.04
R9654:Or4c11b UTSW 2 88,625,263 (GRCm39) missense probably damaging 1.00
R9802:Or4c11b UTSW 2 88,625,491 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CCCCTGAAGCAGAAAATGGTG -3'
(R):5'- GTCTCAAGGCCAAAACAATCTGAG -3'

Sequencing Primer
(F):5'- TTGGGAGTCCCATGTACT -3'
(R):5'- TCAAGGCCAAAACAATCTGAGTAGTG -3'
Posted On 2014-10-30