Incidental Mutation 'IGL02119:Or1l4'
ID 280516
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1l4
Ensembl Gene ENSMUSG00000059429
Gene Name olfactory receptor family 1 subfamily L member 4
Synonyms GA_x6K02T2NLDC-33885305-33886243, MOR138-1, Olfr365
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # IGL02119
Quality Score
Status
Chromosome 2
Chromosomal Location 37082917-37092193 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 37091281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 9 (S9R)
Ref Sequence ENSEMBL: ENSMUSP00000151617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074168] [ENSMUST00000213969] [ENSMUST00000218602]
AlphaFold Q8VFT2
Predicted Effect possibly damaging
Transcript: ENSMUST00000074168
AA Change: S9R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073801
Gene: ENSMUSG00000059429
AA Change: S9R

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
Pfam:7tm_4 33 309 4.7e-58 PFAM
Pfam:7tm_1 43 292 2.2e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213969
AA Change: S9R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218602
AA Change: S9R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,158,344 (GRCm39) probably null Het
Acsbg2 T C 17: 57,175,459 (GRCm39) probably benign Het
Ap3b1 T C 13: 94,598,911 (GRCm39) V495A probably benign Het
Astn1 T C 1: 158,338,724 (GRCm39) probably benign Het
Bora A G 14: 99,290,974 (GRCm39) D94G probably damaging Het
Bpifb9b G T 2: 154,155,544 (GRCm39) V348L possibly damaging Het
Cd160 A T 3: 96,716,139 (GRCm39) I17N possibly damaging Het
Cyp2d11 A C 15: 82,274,265 (GRCm39) I372S probably damaging Het
Dennd2c T A 3: 103,044,559 (GRCm39) V380D probably damaging Het
Fat4 C T 3: 39,037,088 (GRCm39) A3580V probably benign Het
Filip1 A G 9: 79,725,548 (GRCm39) S1024P probably benign Het
Flnc G A 6: 29,447,511 (GRCm39) E1105K probably damaging Het
Gbp4 T A 5: 105,268,908 (GRCm39) E415V probably benign Het
Gdap1l1 T A 2: 163,295,588 (GRCm39) F224Y probably damaging Het
Gm11146 A T 16: 77,385,498 (GRCm39) probably null Het
Gsn G T 2: 35,192,507 (GRCm39) R485L probably damaging Het
Havcr1 A G 11: 46,666,320 (GRCm39) Y261C probably damaging Het
Maneal A T 4: 124,752,960 (GRCm39) I229N probably benign Het
Med24 A T 11: 98,619,661 (GRCm39) M27K probably benign Het
Nipsnap2 T A 5: 129,825,056 (GRCm39) probably benign Het
Noa1 T A 5: 77,455,426 (GRCm39) Q430L probably benign Het
Or5d47 T A 2: 87,804,754 (GRCm39) N85I probably benign Het
Or7g12 T C 9: 18,899,908 (GRCm39) V208A probably benign Het
Or8h9 T C 2: 86,789,527 (GRCm39) I92V probably benign Het
Pde3a T A 6: 141,405,529 (GRCm39) S460R probably damaging Het
Pdzd8 T C 19: 59,288,922 (GRCm39) Q826R possibly damaging Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Pikfyve T A 1: 65,311,730 (GRCm39) I1989N probably damaging Het
Poldip2 T A 11: 78,408,734 (GRCm39) F200I probably damaging Het
Prodh2 T C 7: 30,205,929 (GRCm39) V208A probably damaging Het
Ranbp10 T C 8: 106,553,635 (GRCm39) D89G probably damaging Het
Rbm33 T A 5: 28,544,015 (GRCm39) S90R probably damaging Het
Slc44a4 A C 17: 35,147,637 (GRCm39) D441A probably damaging Het
Slc4a10 A T 2: 62,059,014 (GRCm39) I174F probably damaging Het
Smim17 T C 7: 6,430,160 (GRCm39) probably benign Het
Tln1 T C 4: 43,546,760 (GRCm39) E872G probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Top2b T C 14: 16,406,733 (GRCm38) L625S probably damaging Het
Vmn2r59 A G 7: 41,695,593 (GRCm39) V273A probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Whrn T G 4: 63,353,724 (GRCm39) K348Q probably damaging Het
Zc3h14 T C 12: 98,730,154 (GRCm39) V399A probably benign Het
Other mutations in Or1l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Or1l4 APN 2 37,091,609 (GRCm39) missense probably damaging 1.00
IGL00943:Or1l4 APN 2 37,092,183 (GRCm39) missense probably benign 0.08
IGL01100:Or1l4 APN 2 37,091,652 (GRCm39) missense possibly damaging 0.58
IGL01696:Or1l4 APN 2 37,091,523 (GRCm39) missense probably benign 0.00
IGL02807:Or1l4 APN 2 37,091,586 (GRCm39) missense probably damaging 1.00
IGL03030:Or1l4 APN 2 37,091,883 (GRCm39) missense probably benign 0.00
R0388:Or1l4 UTSW 2 37,092,196 (GRCm39) splice site probably null
R0788:Or1l4 UTSW 2 37,092,035 (GRCm39) missense possibly damaging 0.90
R1126:Or1l4 UTSW 2 37,092,113 (GRCm39) missense probably benign
R1753:Or1l4 UTSW 2 37,091,439 (GRCm39) missense probably damaging 1.00
R1822:Or1l4 UTSW 2 37,091,992 (GRCm39) missense probably damaging 1.00
R1837:Or1l4 UTSW 2 37,092,114 (GRCm39) missense probably benign 0.23
R3711:Or1l4 UTSW 2 37,091,285 (GRCm39) missense probably benign
R4077:Or1l4 UTSW 2 37,092,024 (GRCm39) missense possibly damaging 0.79
R4078:Or1l4 UTSW 2 37,092,024 (GRCm39) missense possibly damaging 0.79
R4375:Or1l4 UTSW 2 37,091,574 (GRCm39) missense probably benign 0.33
R4607:Or1l4 UTSW 2 37,092,094 (GRCm39) nonsense probably null
R4608:Or1l4 UTSW 2 37,092,094 (GRCm39) nonsense probably null
R4889:Or1l4 UTSW 2 37,092,057 (GRCm39) missense probably damaging 1.00
R5398:Or1l4 UTSW 2 37,091,330 (GRCm39) missense probably benign 0.33
R5560:Or1l4 UTSW 2 37,091,942 (GRCm39) missense probably benign 0.01
R5670:Or1l4 UTSW 2 37,092,006 (GRCm39) missense probably benign 0.19
R6108:Or1l4 UTSW 2 37,091,778 (GRCm39) missense possibly damaging 0.68
R6727:Or1l4 UTSW 2 37,092,118 (GRCm39) missense probably damaging 1.00
R6860:Or1l4 UTSW 2 37,092,189 (GRCm39) missense possibly damaging 0.96
R7079:Or1l4 UTSW 2 37,092,185 (GRCm39) missense probably benign 0.00
R7113:Or1l4 UTSW 2 37,091,568 (GRCm39) missense possibly damaging 0.74
R7278:Or1l4 UTSW 2 37,092,092 (GRCm39) missense probably damaging 1.00
R7731:Or1l4 UTSW 2 37,091,561 (GRCm39) missense probably benign 0.07
R8096:Or1l4 UTSW 2 37,092,078 (GRCm39) missense probably damaging 0.99
R9180:Or1l4 UTSW 2 37,091,292 (GRCm39) missense probably benign
R9301:Or1l4 UTSW 2 37,091,255 (GRCm39) start codon destroyed probably benign 0.01
R9448:Or1l4 UTSW 2 37,091,221 (GRCm39) start gained probably benign
R9562:Or1l4 UTSW 2 37,091,575 (GRCm39) missense probably benign
R9565:Or1l4 UTSW 2 37,091,575 (GRCm39) missense probably benign
R9659:Or1l4 UTSW 2 37,091,897 (GRCm39) missense possibly damaging 0.58
Posted On 2015-04-16