Incidental Mutation 'R2204:Or4p23'
ID 238879
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 040206-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R2204 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88576304-88577230 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 88576953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Alanine at position 93 (G93A)
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: G93A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097402
Gene: ENSMUSG00000075117
AA Change: G93A

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: G93A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000215529
AA Change: G93A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630076J17Rik A G 3: 107,140,943 (GRCm39) probably benign Het
Abca1 G A 4: 53,090,291 (GRCm39) T386I probably damaging Het
Acsf3 C T 8: 123,540,383 (GRCm39) S527F probably damaging Het
Adamts7 A T 9: 90,062,729 (GRCm39) K394N probably damaging Het
Ankrd2 C A 19: 42,032,558 (GRCm39) A273E probably damaging Het
Ankrd26 T A 6: 118,500,843 (GRCm39) H876L possibly damaging Het
Atg16l1 A C 1: 87,694,737 (GRCm39) Q138P probably benign Het
Bap1 T C 14: 30,978,658 (GRCm39) V23A probably benign Het
Cartpt A T 13: 100,037,133 (GRCm39) S4T probably benign Het
Cdan1 C A 2: 120,551,241 (GRCm39) C1093F probably damaging Het
Ceacam11 C T 7: 17,709,273 (GRCm39) T157I possibly damaging Het
Cfap45 T C 1: 172,359,728 (GRCm39) V76A probably benign Het
Chil3 T C 3: 106,071,562 (GRCm39) D34G probably benign Het
Chrnb4 G A 9: 54,951,132 (GRCm39) R44C probably damaging Het
Col6a4 T C 9: 105,937,331 (GRCm39) D1395G probably damaging Het
Cpa1 A G 6: 30,641,818 (GRCm39) D214G probably damaging Het
Cttnbp2 T G 6: 18,408,693 (GRCm39) D976A probably benign Het
Elapor1 C T 3: 108,382,359 (GRCm39) G270E probably damaging Het
Espl1 A G 15: 102,214,340 (GRCm39) E693G probably damaging Het
Fat1 G T 8: 45,476,737 (GRCm39) A1928S probably damaging Het
Fiz1 C T 7: 5,011,685 (GRCm39) E278K probably benign Het
Flnc C T 6: 29,459,507 (GRCm39) P2536S probably damaging Het
Gm6370 T A 5: 146,430,539 (GRCm39) D241E probably benign Het
Hlcs T C 16: 94,032,011 (GRCm39) T451A probably benign Het
Hmgcr A G 13: 96,793,141 (GRCm39) L497P probably damaging Het
Hmgcs2 T A 3: 98,198,499 (GRCm39) I134N probably damaging Het
Ifit1bl1 C T 19: 34,571,741 (GRCm39) E239K probably benign Het
Ift52 G A 2: 162,873,150 (GRCm39) S221N probably benign Het
Knstrn T A 2: 118,661,456 (GRCm39) probably null Het
Map3k14 T A 11: 103,130,280 (GRCm39) K212N possibly damaging Het
Ndufb7 A G 8: 84,297,528 (GRCm39) H61R probably damaging Het
Nop56 T A 2: 130,119,488 (GRCm39) I51N probably damaging Het
Nudt5 A T 2: 5,860,794 (GRCm39) I22F possibly damaging Het
Or10j2 T A 1: 173,097,703 (GRCm39) probably null Het
Or7d11 T C 9: 19,966,507 (GRCm39) N84S possibly damaging Het
P3h4 G A 11: 100,304,832 (GRCm39) A185V probably benign Het
Pdcl A T 2: 37,242,056 (GRCm39) N231K probably benign Het
Plcb4 T C 2: 135,844,514 (GRCm39) I144T probably benign Het
Pramel32 A T 4: 88,546,355 (GRCm39) L329Q probably damaging Het
Prrc2b C A 2: 32,113,476 (GRCm39) Q1970K probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sars2 T C 7: 28,449,099 (GRCm39) V302A possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Spata31d1d A G 13: 59,879,435 (GRCm39) C34R possibly damaging Het
Speg A T 1: 75,407,121 (GRCm39) T3137S probably benign Het
Ssh3 A G 19: 4,319,101 (GRCm39) L3P probably damaging Het
Stard9 GAAA GAA 2: 120,529,012 (GRCm39) probably null Het
Stoml2 G T 4: 43,030,243 (GRCm39) Y119* probably null Het
Susd1 A G 4: 59,349,843 (GRCm39) L531P possibly damaging Het
Taco1 C T 11: 105,962,760 (GRCm39) A149V probably benign Het
Tenm3 T C 8: 49,127,585 (GRCm39) E31G probably benign Het
Tmc1 A T 19: 20,918,269 (GRCm39) L2M probably benign Het
Tmem39b A C 4: 129,587,716 (GRCm39) S32A probably benign Het
Tnfsf14 T C 17: 57,497,638 (GRCm39) D198G possibly damaging Het
Trabd2b T C 4: 114,460,191 (GRCm39) L443P probably damaging Het
Trip4 T A 9: 65,771,547 (GRCm39) I328F probably damaging Het
Trpc3 A G 3: 36,704,298 (GRCm39) F553S possibly damaging Het
Tssk2 A G 16: 17,716,603 (GRCm39) D2G possibly damaging Het
Ttn T C 2: 76,601,985 (GRCm39) N18559S possibly damaging Het
Vmn1r23 T C 6: 57,903,604 (GRCm39) D58G probably benign Het
Zbtb47 A G 9: 121,591,703 (GRCm39) T8A possibly damaging Het
Zfyve27 C A 19: 42,171,885 (GRCm39) A139D 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
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
R6781:Or4p23 UTSW 2 88,577,174 (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'- TGCCACAAAAGGGAAGTCTG -3'
(R):5'- ATTCTCTGTGGCAACCTGGTTG -3'

Sequencing Primer
(F):5'- TGAGTGTATAAAAGCACCAATAGCTG -3'
(R):5'- GGCAACCTGGTTGTTCTTATTAC -3'
Posted On 2014-10-02