Incidental Mutation 'R6781:Or4p23'
ID 531400
Institutional Source Beutler Lab
Gene Symbol Or4p23
Ensembl Gene ENSMUSG00000075117
Gene Name olfactory receptor family 4 subfamily P member 23
Synonyms GA_x6K02T2Q125-50221692-50220766, MOR225-13, Olfr1198
MMRRC Submission 044895-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6781 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 88576304-88577230 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88577174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 19 (N19K)
Ref Sequence ENSEMBL: ENSMUSP00000149844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099814] [ENSMUST00000215179] [ENSMUST00000215529]
AlphaFold Q7TR12
Predicted Effect probably benign
Transcript: ENSMUST00000099814
AA Change: N19K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000097402
Gene: ENSMUSG00000075117
AA Change: N19K

DomainStartEndE-ValueType
Pfam:7tm_4 28 302 1.1e-49 PFAM
Pfam:7tm_1 38 284 1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215179
AA Change: N19K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000215529
AA Change: N19K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (45/46)
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
Abca3 T A 17: 24,593,380 (GRCm39) I259N possibly damaging Het
Acot12 G T 13: 91,932,531 (GRCm39) probably null Het
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Amigo3 T C 9: 107,931,162 (GRCm39) L195P probably damaging Het
Aox4 A T 1: 58,284,268 (GRCm39) D556V probably benign Het
Arhgef40 A C 14: 52,235,354 (GRCm39) probably benign Het
Asb15 T C 6: 24,558,674 (GRCm39) V63A probably benign Het
Bicd1 T C 6: 149,414,664 (GRCm39) I459T possibly damaging Het
Bub1 C A 2: 127,649,777 (GRCm39) G694W probably damaging Het
C4b A T 17: 34,961,928 (GRCm39) I106N probably damaging Het
Clca4b T C 3: 144,628,562 (GRCm39) I382V probably benign Het
Cntnap5a A C 1: 116,220,127 (GRCm39) S646R probably benign Het
Cntnap5c C T 17: 58,445,648 (GRCm39) Q563* probably null Het
Cpn1 A G 19: 43,969,343 (GRCm39) F107L possibly damaging Het
Csrnp3 T A 2: 65,852,615 (GRCm39) C336S probably benign Het
Defa3 T A 8: 21,778,277 (GRCm39) M87K probably benign Het
Dennd2b T C 7: 109,124,511 (GRCm39) D1110G possibly damaging Het
Dmbt1 T C 7: 130,648,291 (GRCm39) F274L probably benign Het
Dnah8 TTA TTATA 17: 30,984,698 (GRCm39) probably null Het
Dnase2b T C 3: 146,288,126 (GRCm39) H323R probably benign Het
Fam83e A T 7: 45,371,571 (GRCm39) probably benign Het
Fbn1 T C 2: 125,158,958 (GRCm39) N2269S probably damaging Het
Foxa1 A T 12: 57,590,043 (GRCm39) M59K possibly damaging Het
Fpr3 T C 17: 18,190,978 (GRCm39) V83A probably benign Het
Frmd6 A G 12: 70,946,417 (GRCm39) D615G possibly damaging Het
Gfra3 T C 18: 34,844,375 (GRCm39) K55R possibly damaging Het
Gm5414 A T 15: 101,534,096 (GRCm39) S296T possibly damaging Het
Gtf3c1 T A 7: 125,258,369 (GRCm39) K1234* probably null Het
Hltf T A 3: 20,152,330 (GRCm39) Y609N probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ift74 A G 4: 94,515,539 (GRCm39) D152G probably damaging Het
Kcnk6 T C 7: 28,924,480 (GRCm39) Y308C probably damaging Het
Klhl29 A G 12: 5,141,347 (GRCm39) S546P probably damaging Het
Map7d1 AGGGCAGCC AGGGCAGCCGGGCAGCC 4: 126,134,544 (GRCm39) probably null Het
Meis2 T A 2: 115,879,636 (GRCm39) H228L probably benign Het
Mfsd10 A T 5: 34,791,853 (GRCm39) M344K possibly damaging Het
Mrps33 T C 6: 39,782,757 (GRCm39) probably benign Het
Or2a52 A G 6: 43,144,322 (GRCm39) E110G probably damaging Het
Pik3cb T C 9: 98,923,045 (GRCm39) T996A possibly damaging Het
Plekha7 A G 7: 115,757,090 (GRCm39) probably null Het
Ppp1cb A G 5: 32,638,106 (GRCm39) Y86C probably damaging Het
Sass6 T G 3: 116,388,773 (GRCm39) probably benign Het
Slc6a15 A T 10: 103,230,928 (GRCm39) I218F probably damaging Het
Tcf23 C T 5: 31,126,304 (GRCm39) P61L probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zc3h6 T C 2: 128,857,341 (GRCm39) F620S probably damaging Het
Other mutations in Or4p23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02290:Or4p23 APN 2 88,576,729 (GRCm39) missense probably benign
IGL02316:Or4p23 APN 2 88,577,187 (GRCm39) missense probably damaging 0.97
R0726:Or4p23 UTSW 2 88,576,352 (GRCm39) missense probably benign 0.15
R1439:Or4p23 UTSW 2 88,577,178 (GRCm39) missense possibly damaging 0.57
R1706:Or4p23 UTSW 2 88,576,482 (GRCm39) missense probably damaging 1.00
R1757:Or4p23 UTSW 2 88,576,361 (GRCm39) missense probably benign 0.15
R2202:Or4p23 UTSW 2 88,576,953 (GRCm39) missense probably benign 0.00
R2203:Or4p23 UTSW 2 88,576,953 (GRCm39) missense probably benign 0.00
R2204:Or4p23 UTSW 2 88,576,953 (GRCm39) missense probably benign 0.00
R3085:Or4p23 UTSW 2 88,576,488 (GRCm39) missense probably damaging 1.00
R4901:Or4p23 UTSW 2 88,577,231 (GRCm39) splice site probably null
R4934:Or4p23 UTSW 2 88,576,398 (GRCm39) nonsense probably null
R5687:Or4p23 UTSW 2 88,577,094 (GRCm39) missense probably damaging 1.00
R6074:Or4p23 UTSW 2 88,576,566 (GRCm39) missense probably damaging 1.00
R6105:Or4p23 UTSW 2 88,577,184 (GRCm39) missense probably benign 0.01
R8745:Or4p23 UTSW 2 88,576,408 (GRCm39) missense possibly damaging 0.79
R9058:Or4p23 UTSW 2 88,577,030 (GRCm39) missense
R9264:Or4p23 UTSW 2 88,576,776 (GRCm39) missense probably damaging 1.00
R9355:Or4p23 UTSW 2 88,576,749 (GRCm39) missense probably damaging 0.97
R9660:Or4p23 UTSW 2 88,576,872 (GRCm39) missense probably damaging 1.00
Z1088:Or4p23 UTSW 2 88,576,922 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAATTTAGGGGCCACTGTGG -3'
(R):5'- TGCATATGTTCTCACGAAGGAAC -3'

Sequencing Primer
(F):5'- GCCACTGTGGATGTGAAGC -3'
(R):5'- ACTCTCAACTATTGTGTGCATCTTAC -3'
Posted On 2018-08-29