Incidental Mutation 'R4258:Or4k36'
ID 321886
Institutional Source Beutler Lab
Gene Symbol Or4k36
Ensembl Gene ENSMUSG00000109449
Gene Name olfactory receptor family 4 subfamily K member 36
Synonyms GA_x6K02T2Q125-72366920-72367837, Olfr1280, MOR248-1
MMRRC Submission 041071-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R4258 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 111144362-111156348 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111145983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 53 (H53L)
Ref Sequence ENSEMBL: ENSMUSP00000151980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082167] [ENSMUST00000090328] [ENSMUST00000204064] [ENSMUST00000213551] [ENSMUST00000219291]
AlphaFold Q8VGG8
Predicted Effect probably benign
Transcript: ENSMUST00000082167
AA Change: H53L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080805
Gene: ENSMUSG00000109449
AA Change: H53L

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 3.8e-50 PFAM
Pfam:7tm_1 41 287 9.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090328
AA Change: H53L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087800
Gene: ENSMUSG00000109322
AA Change: H53L

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 3.6e-49 PFAM
Pfam:7tm_1 41 287 3.9e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204064
AA Change: H53L
SMART Domains Protein: ENSMUSP00000145495
Gene: ENSMUSG00000109322
AA Change: H53L

DomainStartEndE-ValueType
Pfam:7tm_4 30 298 2.1e-39 PFAM
Pfam:7tm_1 40 286 7.8e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213551
AA Change: H53L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219291
AA Change: H53L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (60/63)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415M13Rik T A 17: 54,031,441 (GRCm39) noncoding transcript Het
Ank3 T C 10: 69,840,592 (GRCm39) I984T probably benign Het
Arnt2 T C 7: 83,960,163 (GRCm39) T204A probably damaging Het
Arsi T C 18: 61,050,388 (GRCm39) W424R probably damaging Het
Aspg A T 12: 112,087,687 (GRCm39) N346I probably benign Het
Brdt A G 5: 107,507,775 (GRCm39) S668G probably damaging Het
Ccdc178 C T 18: 22,150,392 (GRCm39) probably null Het
Cfap58 A T 19: 47,937,923 (GRCm39) probably null Het
Chaf1a C A 17: 56,363,474 (GRCm39) H319Q unknown Het
Colec12 T C 18: 9,720,950 (GRCm39) S13P probably damaging Het
Cpne9 C T 6: 113,259,984 (GRCm39) probably benign Het
Cyp2c65 A C 19: 39,081,872 (GRCm39) D466A probably benign Het
Cyp3a25 T C 5: 145,928,248 (GRCm39) K266E probably damaging Het
Dennd1b G T 1: 138,990,678 (GRCm39) R214L probably damaging Het
Dock9 T C 14: 121,818,854 (GRCm39) I1533V probably benign Het
Dynlt1a C T 17: 6,361,184 (GRCm39) M102I probably benign Het
Edil3 G T 13: 89,325,272 (GRCm39) L220F probably damaging Het
Eml5 A G 12: 98,831,693 (GRCm39) Y383H probably benign Het
Epc1 T A 18: 6,450,130 (GRCm39) T393S probably benign Het
Fbxo8 A T 8: 57,041,076 (GRCm39) D164V probably benign Het
Gbp4 T A 5: 105,284,841 (GRCm39) N16I probably damaging Het
Gdf6 G A 4: 9,844,877 (GRCm39) V134I probably damaging Het
Gm5475 A G 15: 100,322,117 (GRCm39) probably benign Het
Gm6430 T G 1: 96,952,561 (GRCm39) noncoding transcript Het
Ighv9-4 A T 12: 114,263,765 (GRCm39) V56E probably damaging Het
Il3ra A T 14: 14,347,961 (GRCm38) N36Y probably damaging Het
Kif7 G T 7: 79,360,261 (GRCm39) C325* probably null Het
Lipo2 A T 19: 33,708,328 (GRCm39) F229I possibly damaging Het
Lrba A G 3: 86,352,656 (GRCm39) K1935E probably damaging Het
Mki67 A T 7: 135,297,017 (GRCm39) D2672E possibly damaging Het
Mtf1 A G 4: 124,732,576 (GRCm39) T545A probably benign Het
Mup6 A T 4: 60,004,812 (GRCm39) probably null Het
Myo9b T C 8: 71,808,409 (GRCm39) V1672A probably damaging Het
Nudt16l2 T C 9: 105,020,767 (GRCm39) I165V probably damaging Het
Or10al6 C A 17: 38,082,949 (GRCm39) P135Q probably damaging Het
Or10j5 C T 1: 172,785,205 (GRCm39) T281I possibly damaging Het
Or5d37 T A 2: 87,923,362 (GRCm39) N306I probably damaging Het
Pcdhgb2 A T 18: 37,825,102 (GRCm39) I698F probably damaging Het
Pkn3 C T 2: 29,978,572 (GRCm39) H665Y probably damaging Het
Ppil6 T A 10: 41,383,531 (GRCm39) L99* probably null Het
Psg22 T A 7: 18,458,554 (GRCm39) V376E probably damaging Het
Pum1 G A 4: 130,457,591 (GRCm39) R201H probably damaging Het
Rasa2 A T 9: 96,439,433 (GRCm39) probably benign Het
Schip1 T A 3: 68,525,963 (GRCm39) M379K possibly damaging Het
Scn9a A T 2: 66,395,398 (GRCm39) probably benign Het
Sh3tc1 C T 5: 35,864,322 (GRCm39) A622T probably benign Het
Smarcd2 A T 11: 106,156,076 (GRCm39) I292N probably damaging Het
Ssxb17 C T X: 21,041,167 (GRCm39) S45N probably damaging Het
Stab1 G A 14: 30,876,629 (GRCm39) R862C possibly damaging Het
Tdrd5 T A 1: 156,087,312 (GRCm39) H870L probably benign Het
Tnfaip8 A G 18: 50,223,443 (GRCm39) R60G possibly damaging Het
Traf3ip3 C T 1: 192,880,254 (GRCm39) R25Q probably damaging Het
Unc5b T C 10: 60,601,150 (GRCm39) Y892C probably damaging Het
Vmn2r2 T G 3: 64,042,118 (GRCm39) D199A probably damaging Het
Washc2 C A 6: 116,185,202 (GRCm39) P12Q probably damaging Het
Zfp286 T C 11: 62,671,896 (GRCm39) I121V probably benign Het
Zfp606 T A 7: 12,228,267 (GRCm39) probably null Het
Other mutations in Or4k36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Or4k36 APN 2 111,146,015 (GRCm39) missense probably damaging 1.00
IGL01906:Or4k36 APN 2 111,146,246 (GRCm39) missense probably damaging 1.00
R0078:Or4k36 UTSW 2 111,146,249 (GRCm39) missense probably benign 0.04
R0091:Or4k36 UTSW 2 111,146,518 (GRCm39) missense probably benign 0.00
R0295:Or4k36 UTSW 2 111,146,499 (GRCm39) missense probably damaging 0.99
R1650:Or4k36 UTSW 2 111,146,640 (GRCm39) missense probably benign 0.04
R1808:Or4k36 UTSW 2 111,146,343 (GRCm39) missense probably benign 0.00
R2120:Or4k36 UTSW 2 111,145,844 (GRCm39) missense probably benign 0.02
R3084:Or4k36 UTSW 2 111,146,461 (GRCm39) missense probably benign 0.36
R3085:Or4k36 UTSW 2 111,146,461 (GRCm39) missense probably benign 0.36
R3086:Or4k36 UTSW 2 111,146,461 (GRCm39) missense probably benign 0.36
R3148:Or4k36 UTSW 2 111,146,633 (GRCm39) missense possibly damaging 0.93
R4229:Or4k36 UTSW 2 111,146,681 (GRCm39) missense probably damaging 1.00
R4908:Or4k36 UTSW 2 111,146,574 (GRCm39) missense probably benign 0.09
R4972:Or4k36 UTSW 2 111,146,163 (GRCm39) missense probably damaging 1.00
R5051:Or4k36 UTSW 2 111,146,599 (GRCm39) nonsense probably null
R5551:Or4k36 UTSW 2 111,145,916 (GRCm39) missense possibly damaging 0.52
R7573:Or4k36 UTSW 2 111,146,277 (GRCm39) missense probably benign 0.04
R8808:Or4k36 UTSW 2 111,146,239 (GRCm39) missense possibly damaging 0.70
R9156:Or4k36 UTSW 2 111,145,827 (GRCm39) start codon destroyed probably null 1.00
R9405:Or4k36 UTSW 2 111,146,460 (GRCm39) missense possibly damaging 0.53
R9450:Or4k36 UTSW 2 111,146,398 (GRCm39) missense probably benign 0.41
R9493:Or4k36 UTSW 2 111,146,288 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCAACTCATTAGTACACCTTGTGG -3'
(R):5'- ACATACCGGTCATAGGCCATTG -3'

Sequencing Primer
(F):5'- TAGTACACCTTGTGGTAAATGGAAG -3'
(R):5'- CCGGTCATAGGCCATTGTTACAAG -3'
Posted On 2015-06-20