Incidental Mutation 'R3923:Or8k23'
ID 307013
Institutional Source Beutler Lab
Gene Symbol Or8k23
Ensembl Gene ENSMUSG00000075188
Gene Name olfactory receptor family 8 subfamily K member 23
Synonyms MOR186-2, Olfr1056, GA_x6K02T2Q125-47827833-47826892
MMRRC Submission 040820-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R3923 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 86185703-86186781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86186205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 174 (I174V)
Ref Sequence ENSEMBL: ENSMUSP00000149545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099893] [ENSMUST00000216547]
AlphaFold A2AVY0
Predicted Effect probably benign
Transcript: ENSMUST00000099893
AA Change: I174V

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097478
Gene: ENSMUSG00000075188
AA Change: I174V

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.6e-47 PFAM
Pfam:7tm_1 41 290 7.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216547
AA Change: I174V

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,180,514 (GRCm39) M528V possibly damaging Het
Ano3 T A 2: 110,601,304 (GRCm39) Y318F probably damaging Het
Asic4 T A 1: 75,427,871 (GRCm39) D132E probably damaging Het
Atp2b2 A G 6: 113,774,069 (GRCm39) probably null Het
Cast T C 13: 74,876,532 (GRCm39) E447G probably damaging Het
Ccdc110 T C 8: 46,395,426 (GRCm39) I439T probably damaging Het
Ccdc50 A T 16: 27,263,294 (GRCm39) R264S probably damaging Het
Cdhr18 T A 14: 13,865,990 (GRCm38) K300* probably null Het
Chd9 T A 8: 91,660,147 (GRCm39) V369E probably benign Het
Cnnm1 A G 19: 43,428,884 (GRCm39) M1V probably null Het
Col4a1 T A 8: 11,251,665 (GRCm39) probably benign Het
Crtac1 A G 19: 42,322,386 (GRCm39) V118A probably damaging Het
Ddx59 T A 1: 136,344,482 (GRCm39) V51D probably benign Het
Dipk1c A T 18: 84,748,812 (GRCm39) T137S probably damaging Het
Dtd2 G C 12: 52,051,734 (GRCm39) probably null Het
Ehmt1 A T 2: 24,774,347 (GRCm39) probably null Het
Emc1 T A 4: 139,090,496 (GRCm39) L412* probably null Het
Ep400 T C 5: 110,904,389 (GRCm39) N70S possibly damaging Het
Ercc6l2 T C 13: 64,018,549 (GRCm39) probably benign Het
Fry T C 5: 150,336,814 (GRCm39) V1395A probably benign Het
Gps1 A G 11: 120,677,259 (GRCm39) N186S possibly damaging Het
Hdgf T A 3: 87,821,535 (GRCm39) D128E probably benign Het
Hipk3 A G 2: 104,301,107 (GRCm39) S362P probably damaging Het
Hypk C A 2: 121,288,683 (GRCm39) H116Q possibly damaging Het
Ifna9 T A 4: 88,510,508 (GRCm39) T39S possibly damaging Het
Itgae A C 11: 73,006,969 (GRCm39) D405A probably damaging Het
Itprid1 T C 6: 55,945,045 (GRCm39) S589P probably benign Het
Kdm5a T C 6: 120,358,625 (GRCm39) S223P probably benign Het
Kif21a C T 15: 90,821,497 (GRCm39) S1432N possibly damaging Het
Klhl1 A T 14: 96,584,316 (GRCm39) C305S possibly damaging Het
Lrrn2 A G 1: 132,866,230 (GRCm39) S432G probably benign Het
Mlana T A 19: 29,682,098 (GRCm39) S50R probably damaging Het
Mycbp2 A T 14: 103,364,149 (GRCm39) H4383Q probably damaging Het
Ncor1 A G 11: 62,216,442 (GRCm39) S1469P probably damaging Het
Nol6 G T 4: 41,121,531 (GRCm39) F270L probably benign Het
Nr2c2 T A 6: 92,137,382 (GRCm39) M431K probably damaging Het
Nrap T C 19: 56,368,688 (GRCm39) I243V probably damaging Het
Obscn T C 11: 58,951,754 (GRCm39) I4297V possibly damaging Het
Onecut2 A G 18: 64,474,591 (GRCm39) K381E probably damaging Het
Or52n1 T A 7: 104,383,396 (GRCm39) E58D probably benign Het
Palb2 A T 7: 121,716,583 (GRCm39) probably null Het
Plod1 T C 4: 148,000,280 (GRCm39) K260E possibly damaging Het
Rgsl1 T C 1: 153,679,876 (GRCm39) probably null Het
Rpe65 T A 3: 159,310,037 (GRCm39) F103L probably benign Het
Ryr3 C T 2: 112,672,218 (GRCm39) A1438T possibly damaging Het
Slc17a3 G A 13: 24,042,037 (GRCm39) V402M possibly damaging Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Snph C T 2: 151,435,431 (GRCm39) C430Y probably damaging Het
Tarbp1 T C 8: 127,167,510 (GRCm39) I1101V probably benign Het
Tatdn1 G A 15: 58,793,020 (GRCm39) L120F possibly damaging Het
Trav3-3 A G 14: 53,903,828 (GRCm39) K49E probably benign Het
Trpv5 T C 6: 41,630,183 (GRCm39) T636A probably benign Het
Ube2l6 A G 2: 84,639,418 (GRCm39) D127G possibly damaging Het
Usp33 T A 3: 152,080,428 (GRCm39) probably null Het
Usp53 A T 3: 122,727,954 (GRCm39) F876Y probably benign Het
Utrn A T 10: 12,615,223 (GRCm39) I316K probably benign Het
Zfp106 G T 2: 120,365,337 (GRCm39) Q357K probably damaging Het
Zfp143 T C 7: 109,673,398 (GRCm39) V138A probably damaging Het
Zfp451 T C 1: 33,818,126 (GRCm39) R118G probably null Het
Other mutations in Or8k23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Or8k23 APN 2 86,186,477 (GRCm39) missense possibly damaging 0.89
R0525:Or8k23 UTSW 2 86,186,619 (GRCm39) missense probably benign 0.00
R0544:Or8k23 UTSW 2 86,186,007 (GRCm39) missense probably damaging 1.00
R1124:Or8k23 UTSW 2 86,186,239 (GRCm39) missense probably damaging 1.00
R2011:Or8k23 UTSW 2 86,186,530 (GRCm39) missense possibly damaging 0.70
R2395:Or8k23 UTSW 2 86,186,609 (GRCm39) missense probably benign 0.01
R2508:Or8k23 UTSW 2 86,186,708 (GRCm39) missense possibly damaging 0.89
R3609:Or8k23 UTSW 2 86,185,826 (GRCm39) missense probably damaging 0.96
R4531:Or8k23 UTSW 2 86,186,318 (GRCm39) missense probably damaging 1.00
R4836:Or8k23 UTSW 2 86,186,094 (GRCm39) missense probably benign 0.39
R5085:Or8k23 UTSW 2 86,186,318 (GRCm39) missense probably damaging 1.00
R6210:Or8k23 UTSW 2 86,186,702 (GRCm39) missense probably benign 0.00
R7265:Or8k23 UTSW 2 86,186,088 (GRCm39) missense probably benign 0.00
R8059:Or8k23 UTSW 2 86,186,306 (GRCm39) missense probably benign 0.01
R8286:Or8k23 UTSW 2 86,186,691 (GRCm39) missense probably damaging 1.00
R8460:Or8k23 UTSW 2 86,186,198 (GRCm39) missense probably damaging 1.00
R9643:Or8k23 UTSW 2 86,186,408 (GRCm39) missense probably benign 0.20
X0020:Or8k23 UTSW 2 86,186,118 (GRCm39) missense probably benign 0.09
Z1088:Or8k23 UTSW 2 86,186,237 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- AGTTCATCCTGAGAATGGCC -3'
(R):5'- TTGGTGTGCATTCCAGCTATC -3'

Sequencing Primer
(F):5'- TTCATCCTGAGAATGGCCACCAG -3'
(R):5'- TGTTCATCTTCTTCATCATTAGTGAG -3'
Posted On 2015-04-17