Incidental Mutation 'R0576:Or11h23'
ID 56240
Institutional Source Beutler Lab
Gene Symbol Or11h23
Ensembl Gene ENSMUSG00000060084
Gene Name olfactory receptor family 11 subfamily G member 23
Synonyms GA_x6K02T2PMLR-6454789-6455712, Olfr748, MOR106-9P
MMRRC Submission 038766-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R0576 (G1)
Quality Score 210
Status Validated
Chromosome 14
Chromosomal Location 50947789-50948712 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50948661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 291 (S291R)
Ref Sequence ENSEMBL: ENSMUSP00000149491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073561] [ENSMUST00000213101]
AlphaFold E9Q9Z0
Predicted Effect probably damaging
Transcript: ENSMUST00000073561
AA Change: S291R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073251
Gene: ENSMUSG00000060084
AA Change: S291R

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.6e-52 PFAM
Pfam:7tm_1 41 290 2.8e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213101
AA Change: S291R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.6%
  • 20x: 94.9%
Validation Efficiency 92% (47/51)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc77 T A 6: 120,308,809 (GRCm39) L335F probably benign Het
Ccr3 T A 9: 123,829,046 (GRCm39) F127Y probably damaging Het
Cfap43 T C 19: 47,785,579 (GRCm39) N437S probably benign Het
Cfh A G 1: 140,064,553 (GRCm39) V365A probably damaging Het
Copg1 T A 6: 87,874,945 (GRCm39) V380D probably damaging Het
Cxxc1 T C 18: 74,353,256 (GRCm39) I497T possibly damaging Het
Disp3 G A 4: 148,326,047 (GRCm39) T1237I possibly damaging Het
Dnaaf9 A T 2: 130,555,390 (GRCm39) F839L probably benign Het
Dnah7a A T 1: 53,675,246 (GRCm39) F360L probably benign Het
Dnhd1 C T 7: 105,363,252 (GRCm39) A3938V probably damaging Het
Eif4g1 A G 16: 20,502,818 (GRCm39) D1000G probably damaging Het
Emsy A T 7: 98,242,983 (GRCm39) V1052D probably damaging Het
Ep400 A G 5: 110,858,959 (GRCm39) probably benign Het
Fa2h T C 8: 112,082,779 (GRCm39) H146R probably damaging Het
Gad1 G A 2: 70,424,996 (GRCm39) C430Y probably benign Het
Gtse1 T C 15: 85,753,252 (GRCm39) S456P probably damaging Het
Gucy2g T C 19: 55,187,202 (GRCm39) T1073A probably damaging Het
Hectd2 T G 19: 36,562,897 (GRCm39) N3K probably benign Het
Hmcn1 A T 1: 150,525,768 (GRCm39) C3318* probably null Het
Lipo2 C T 19: 33,726,824 (GRCm39) S71N probably benign Het
Mynn G T 3: 30,661,217 (GRCm39) D100Y probably damaging Het
Myo16 G A 8: 10,612,318 (GRCm39) probably null Het
Npr2 G T 4: 43,640,947 (GRCm39) K384N probably benign Het
Nrde2 A G 12: 100,098,492 (GRCm39) V725A possibly damaging Het
Or2l13 A G 16: 19,305,938 (GRCm39) M117V probably damaging Het
Otud7a C T 7: 63,335,266 (GRCm39) P101S possibly damaging Het
Pcdhb7 T A 18: 37,475,410 (GRCm39) L182Q probably benign Het
Pdss1 A G 2: 22,805,425 (GRCm39) probably null Het
Ppargc1b T A 18: 61,444,512 (GRCm39) H233L probably damaging Het
Ppm1b A G 17: 85,320,987 (GRCm39) probably null Het
Prdm14 A T 1: 13,195,949 (GRCm39) S37R possibly damaging Het
Prss45 A G 9: 110,667,497 (GRCm39) T39A probably benign Het
Qars1 T C 9: 108,392,161 (GRCm39) probably benign Het
Rxfp2 T G 5: 149,961,712 (GRCm39) H77Q probably benign Het
Scd4 A G 19: 44,329,685 (GRCm39) M219V probably benign Het
Sec24b G T 3: 129,834,985 (GRCm39) P71Q probably benign Het
Snd1 T G 6: 28,886,576 (GRCm39) V861G probably benign Het
Sspo A G 6: 48,441,876 (GRCm39) probably null Het
Tas2r129 A G 6: 132,928,497 (GRCm39) T145A probably benign Het
Tbc1d31 T A 15: 57,833,120 (GRCm39) I953N possibly damaging Het
Tlr4 A G 4: 66,757,732 (GRCm39) N175S probably benign Het
Tspyl4 A G 10: 34,174,518 (GRCm39) N337D probably damaging Het
Ttn A T 2: 76,642,545 (GRCm39) L13330H probably damaging Het
Usp33 T A 3: 152,089,756 (GRCm39) Y765* probably null Het
Vmn2r59 T A 7: 41,696,529 (GRCm39) Y71F probably benign Het
Zbed6 A G 1: 133,585,576 (GRCm39) F587S probably benign Het
Zfhx4 T C 3: 5,467,161 (GRCm39) S2465P probably damaging Het
Other mutations in Or11h23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Or11h23 APN 14 50,948,450 (GRCm39) missense possibly damaging 0.95
IGL02965:Or11h23 APN 14 50,948,653 (GRCm39) missense probably damaging 1.00
R1184:Or11h23 UTSW 14 50,948,071 (GRCm39) missense probably benign 0.01
R2129:Or11h23 UTSW 14 50,948,093 (GRCm39) missense probably damaging 0.99
R2895:Or11h23 UTSW 14 50,947,973 (GRCm39) missense probably damaging 0.99
R2896:Or11h23 UTSW 14 50,947,973 (GRCm39) missense probably damaging 0.99
R4017:Or11h23 UTSW 14 50,948,333 (GRCm39) missense probably benign 0.03
R5053:Or11h23 UTSW 14 50,947,968 (GRCm39) nonsense probably null
R5057:Or11h23 UTSW 14 50,948,669 (GRCm39) missense probably damaging 1.00
R5113:Or11h23 UTSW 14 50,948,371 (GRCm39) missense probably benign 0.00
R5294:Or11h23 UTSW 14 50,948,236 (GRCm39) missense probably benign 0.01
R5294:Or11h23 UTSW 14 50,947,900 (GRCm39) missense possibly damaging 0.95
R5499:Or11h23 UTSW 14 50,948,324 (GRCm39) missense probably damaging 1.00
R5582:Or11h23 UTSW 14 50,948,425 (GRCm39) missense probably damaging 1.00
R5727:Or11h23 UTSW 14 50,947,817 (GRCm39) missense possibly damaging 0.74
R6797:Or11h23 UTSW 14 50,948,563 (GRCm39) missense probably damaging 1.00
R7685:Or11h23 UTSW 14 50,948,215 (GRCm39) missense possibly damaging 0.95
R7717:Or11h23 UTSW 14 50,948,219 (GRCm39) missense probably damaging 1.00
R7778:Or11h23 UTSW 14 50,947,928 (GRCm39) missense possibly damaging 0.60
R8276:Or11h23 UTSW 14 50,948,287 (GRCm39) missense probably benign 0.28
R8839:Or11h23 UTSW 14 50,947,957 (GRCm39) missense possibly damaging 0.73
R9322:Or11h23 UTSW 14 50,948,507 (GRCm39) missense probably damaging 1.00
R9358:Or11h23 UTSW 14 50,947,802 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTCCTGTACCCCTACACCCATCATAA -3'
(R):5'- tggtgagctatctttCCATCCTTGACT -3'

Sequencing Primer
(F):5'- ATACCCTAGTGCTCAGAGCTG -3'
(R):5'- caaccactgagattaaaggcac -3'
Posted On 2013-07-11