Incidental Mutation 'R6459:Or8k41'
ID 517499
Institutional Source Beutler Lab
Gene Symbol Or8k41
Ensembl Gene ENSMUSG00000111772
Gene Name olfactory receptor family 8 subfamily K member 41
Synonyms Olfr228, Olfr1071, GA_x6K02T0101M-139-669, MOR189-3, GA_x6K02T2Q125-47962802-47962551
MMRRC Submission 044594-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R6459 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 86313143-86314084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86313573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 171 (H171L)
Ref Sequence ENSEMBL: ENSMUSP00000149449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000216534] [ENSMUST00000217292]
AlphaFold A0A1L1SR98
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215705
Predicted Effect probably benign
Transcript: ENSMUST00000216534
AA Change: H171L

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000217292
AA Change: H171L

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 98% (52/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr C A 11: 76,315,815 (GRCm39) R583L probably damaging Het
Acss1 A G 2: 150,509,840 (GRCm39) I93T probably damaging Het
Ank3 C T 10: 69,827,577 (GRCm39) probably benign Het
Aoah A G 13: 21,184,112 (GRCm39) Y392C probably damaging Het
Atl3 A T 19: 7,498,163 (GRCm39) E186D probably benign Het
Atp4a A G 7: 30,411,887 (GRCm39) K41E probably benign Het
Atp9a G A 2: 168,509,933 (GRCm39) P500L probably damaging Het
Ccdc88b A T 19: 6,832,246 (GRCm39) V363D possibly damaging Het
Cftr T C 6: 18,258,235 (GRCm39) V532A probably damaging Het
Cldn13 T C 5: 134,943,769 (GRCm39) T139A possibly damaging Het
Cnksr3 T C 10: 7,076,820 (GRCm39) Y124C probably benign Het
Cyb5r2 T C 7: 107,352,462 (GRCm39) K161E possibly damaging Het
Epop T C 11: 97,519,333 (GRCm39) S259G possibly damaging Het
Fhl2 G A 1: 43,162,813 (GRCm39) T234I possibly damaging Het
Fnip2 T C 3: 79,388,941 (GRCm39) T567A possibly damaging Het
Frmd4b A G 6: 97,464,601 (GRCm39) C39R probably damaging Het
Grhl3 T C 4: 135,284,744 (GRCm39) N116S possibly damaging Het
Igkv14-111 A T 6: 68,233,725 (GRCm39) R75S probably benign Het
Il16 A T 7: 83,371,529 (GRCm39) D92E probably damaging Het
Il16 C A 7: 83,371,536 (GRCm39) G90V probably damaging Het
Ipo11 T C 13: 107,002,277 (GRCm39) probably null Het
Kng2 A G 16: 22,830,865 (GRCm39) I148T probably damaging Het
Lrrc41 T C 4: 115,945,977 (GRCm39) S231P possibly damaging Het
Maneal C T 4: 124,750,635 (GRCm39) V374I possibly damaging Het
Mgat4c T A 10: 102,220,988 (GRCm39) L90Q probably damaging Het
Mrps28 A G 3: 8,965,040 (GRCm39) probably null Het
Ncapd3 A G 9: 26,963,051 (GRCm39) D452G probably benign Het
Nefh T C 11: 4,889,551 (GRCm39) T1023A unknown Het
Nipa1 A G 7: 55,629,354 (GRCm39) V253A probably benign Het
Or5ac17 C T 16: 59,036,383 (GRCm39) V198M probably benign Het
Or5b97 G T 19: 12,878,369 (GRCm39) F258L possibly damaging Het
Or5m11 G T 2: 85,781,862 (GRCm39) G152C probably damaging Het
Or8d23 A G 9: 38,841,961 (GRCm39) S165G probably benign Het
Pak1 A G 7: 97,557,088 (GRCm39) D495G probably benign Het
Pcm1 G A 8: 41,714,073 (GRCm39) R213H probably damaging Het
Prg4 T C 1: 150,330,052 (GRCm39) probably benign Het
Proser1 C T 3: 53,385,750 (GRCm39) T544M possibly damaging Het
Rftn1 T C 17: 50,354,334 (GRCm39) M343V probably benign Het
Ryr1 T C 7: 28,715,079 (GRCm39) I4656V probably benign Het
Scg2 T A 1: 79,414,007 (GRCm39) N239Y probably damaging Het
Sec16a C A 2: 26,313,512 (GRCm39) M1949I probably benign Het
Sipa1l2 A G 8: 126,171,223 (GRCm39) probably null Het
Slc10a2 A C 8: 5,148,581 (GRCm39) probably null Het
Slc25a16 C T 10: 62,773,256 (GRCm39) Q164* probably null Het
Specc1l T C 10: 75,082,001 (GRCm39) Y483H probably damaging Het
Ston1 T C 17: 88,943,896 (GRCm39) V434A probably benign Het
Tarbp2 A G 15: 102,426,914 (GRCm39) probably benign Het
Trappc8 C T 18: 20,969,925 (GRCm39) V1022M probably benign Het
Tsen54 T C 11: 115,712,506 (GRCm39) V269A probably damaging Het
Vps13a A T 19: 16,641,382 (GRCm39) M78K possibly damaging Het
Vwa5b2 A G 16: 20,413,429 (GRCm39) T215A probably damaging Het
Zc3h7a A G 16: 10,971,025 (GRCm39) Y335H probably damaging Het
Zfp994 T A 17: 22,419,527 (GRCm39) Q474L possibly damaging Het
Other mutations in Or8k41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Or8k41 APN 2 86,313,562 (GRCm39) missense probably benign 0.05
IGL02136:Or8k41 APN 2 86,313,809 (GRCm39) missense probably damaging 1.00
IGL02419:Or8k41 APN 2 86,313,259 (GRCm39) missense probably damaging 0.99
IGL03008:Or8k41 APN 2 86,313,678 (GRCm39) missense probably damaging 1.00
R0240:Or8k41 UTSW 2 86,313,730 (GRCm39) missense possibly damaging 0.78
R0240:Or8k41 UTSW 2 86,313,730 (GRCm39) missense possibly damaging 0.78
R1073:Or8k41 UTSW 2 86,313,984 (GRCm39) missense probably damaging 0.98
R1163:Or8k41 UTSW 2 86,313,582 (GRCm39) missense probably damaging 1.00
R1505:Or8k41 UTSW 2 86,313,557 (GRCm39) missense possibly damaging 0.94
R1806:Or8k41 UTSW 2 86,313,483 (GRCm39) missense probably damaging 0.99
R1940:Or8k41 UTSW 2 86,313,703 (GRCm39) nonsense probably null
R3025:Or8k41 UTSW 2 86,314,083 (GRCm39) start codon destroyed probably null 1.00
R3037:Or8k41 UTSW 2 86,313,987 (GRCm39) missense probably damaging 0.96
R5156:Or8k41 UTSW 2 86,313,362 (GRCm39) nonsense probably null
R6472:Or8k41 UTSW 2 86,313,534 (GRCm39) nonsense probably null
R6493:Or8k41 UTSW 2 86,313,565 (GRCm39) missense possibly damaging 0.59
R6880:Or8k41 UTSW 2 86,314,069 (GRCm39) missense probably benign
R7283:Or8k41 UTSW 2 86,313,483 (GRCm39) missense probably damaging 0.99
R8113:Or8k41 UTSW 2 86,313,412 (GRCm39) missense probably damaging 1.00
R9799:Or8k41 UTSW 2 86,313,732 (GRCm39) missense probably damaging 1.00
X0028:Or8k41 UTSW 2 86,313,234 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGTCAGATGAGACCCACAG -3'
(R):5'- ATTCTGTCTGCAATGTCTTATGACC -3'

Sequencing Primer
(F):5'- TTCAGCAGAGTTCATCCTGAG -3'
(R):5'- GCAATGTCTTATGACCGCTATG -3'
Posted On 2018-05-21