Incidental Mutation 'IGL02304:Or4k44'
ID 287510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4k44
Ensembl Gene ENSMUSG00000109547
Gene Name olfactory receptor family 4 subfamily K member 44
Synonyms MOR248-7, GA_x6K02T2Q125-72589785-72588847, Olfr1294
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # IGL02304
Quality Score
Status
Chromosome 2
Chromosomal Location 111367694-111368632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111367746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 296 (N296S)
Ref Sequence ENSEMBL: ENSMUSP00000146438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000208334] [ENSMUST00000208675] [ENSMUST00000215245]
AlphaFold Q8VGE5
Predicted Effect probably benign
Transcript: ENSMUST00000208334
AA Change: N296S

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000208675
AA Change: N296S

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000215245
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik G T 18: 69,083,122 (GRCm39) H31N unknown Het
Adamts8 A G 9: 30,867,952 (GRCm39) N592S possibly damaging Het
Atp1a2 C A 1: 172,116,920 (GRCm39) E232D probably benign Het
Cacnb3 A T 15: 98,540,263 (GRCm39) D323V probably damaging Het
Cdh9 A T 15: 16,848,687 (GRCm39) T456S probably benign Het
Cep162 A T 9: 87,109,200 (GRCm39) probably benign Het
Clvs2 T C 10: 33,404,443 (GRCm39) M258V probably benign Het
Col6a5 T C 9: 105,805,613 (GRCm39) T1098A unknown Het
Foxs1 T C 2: 152,774,270 (GRCm39) D261G probably benign Het
Gas2l2 T C 11: 83,315,064 (GRCm39) probably benign Het
Gins4 A T 8: 23,722,625 (GRCm39) M98K probably benign Het
Gm9637 A T 14: 19,402,545 (GRCm38) noncoding transcript Het
Herc1 A G 9: 66,383,696 (GRCm39) D3720G probably benign Het
Kcnh5 C T 12: 75,023,471 (GRCm39) M532I probably benign Het
Kcnk18 T C 19: 59,223,295 (GRCm39) Y147H probably damaging Het
Kif21a A T 15: 90,849,738 (GRCm39) F55Y probably damaging Het
Krt15 T A 11: 100,024,503 (GRCm39) I278F possibly damaging Het
L3mbtl4 T A 17: 68,894,180 (GRCm39) Y395* probably null Het
Mcm3ap T A 10: 76,320,572 (GRCm39) N843K possibly damaging Het
Mpdz T C 4: 81,228,394 (GRCm39) K1337E possibly damaging Het
Mpdz G A 4: 81,215,796 (GRCm39) probably benign Het
Ms4a6d T C 19: 11,580,505 (GRCm39) probably benign Het
Myo7a G T 7: 97,726,943 (GRCm39) R922S possibly damaging Het
Nek1 G T 8: 61,465,201 (GRCm39) G97C probably damaging Het
Obscn A G 11: 58,967,448 (GRCm39) Y2963H probably damaging Het
Or4k6 T C 14: 50,476,217 (GRCm39) N42D probably damaging Het
Or5w15 C T 2: 87,568,330 (GRCm39) V113M probably benign Het
Prmt3 G A 7: 49,476,485 (GRCm39) V365I probably benign Het
Prrc2c T C 1: 162,511,705 (GRCm39) T958A probably benign Het
Ptprb T C 10: 116,167,164 (GRCm39) Y947H probably damaging Het
Pus10 C T 11: 23,662,275 (GRCm39) S315L probably damaging Het
Rmi1 C A 13: 58,557,290 (GRCm39) S513* probably null Het
Sec14l3 C T 11: 4,024,768 (GRCm39) P239L probably damaging Het
Slc44a3 T C 3: 121,320,723 (GRCm39) T93A possibly damaging Het
Srsf3-ps C T 11: 98,516,364 (GRCm39) R3H probably benign Het
Stat1 G A 1: 52,171,703 (GRCm39) A125T probably benign Het
Tigd2 C T 6: 59,188,683 (GRCm39) Q517* probably null Het
Trav13d-3 C T 14: 53,270,837 (GRCm39) Q100* probably null Het
Trim67 G A 8: 125,552,691 (GRCm39) D598N probably damaging Het
Trio A G 15: 27,735,522 (GRCm39) L2856P probably damaging Het
Other mutations in Or4k44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Or4k44 APN 2 111,368,359 (GRCm39) missense probably damaging 1.00
IGL02555:Or4k44 APN 2 111,368,262 (GRCm39) missense probably damaging 0.98
R0422:Or4k44 UTSW 2 111,368,328 (GRCm39) missense probably damaging 0.97
R0647:Or4k44 UTSW 2 111,367,704 (GRCm39) missense probably benign 0.00
R0656:Or4k44 UTSW 2 111,367,972 (GRCm39) missense probably damaging 1.00
R1543:Or4k44 UTSW 2 111,368,142 (GRCm39) missense probably benign 0.00
R1909:Or4k44 UTSW 2 111,368,359 (GRCm39) missense probably damaging 1.00
R3735:Or4k44 UTSW 2 111,368,241 (GRCm39) missense probably damaging 1.00
R4671:Or4k44 UTSW 2 111,368,280 (GRCm39) missense probably damaging 1.00
R4703:Or4k44 UTSW 2 111,368,113 (GRCm39) missense probably benign 0.03
R4809:Or4k44 UTSW 2 111,367,956 (GRCm39) missense probably benign 0.15
R4822:Or4k44 UTSW 2 111,367,797 (GRCm39) missense probably damaging 0.98
R4837:Or4k44 UTSW 2 111,368,319 (GRCm39) missense probably damaging 0.98
R4880:Or4k44 UTSW 2 111,367,698 (GRCm39) nonsense probably null
R5203:Or4k44 UTSW 2 111,367,981 (GRCm39) missense probably damaging 1.00
R5871:Or4k44 UTSW 2 111,367,984 (GRCm39) missense probably damaging 1.00
R5902:Or4k44 UTSW 2 111,367,739 (GRCm39) missense probably benign 0.00
R6501:Or4k44 UTSW 2 111,368,124 (GRCm39) missense probably damaging 1.00
R7354:Or4k44 UTSW 2 111,367,909 (GRCm39) missense possibly damaging 0.94
R7575:Or4k44 UTSW 2 111,368,597 (GRCm39) missense probably damaging 1.00
R7623:Or4k44 UTSW 2 111,368,281 (GRCm39) missense probably damaging 1.00
R7632:Or4k44 UTSW 2 111,368,521 (GRCm39) missense possibly damaging 0.87
R7845:Or4k44 UTSW 2 111,368,512 (GRCm39) nonsense probably null
R8130:Or4k44 UTSW 2 111,367,825 (GRCm39) missense probably damaging 1.00
R9056:Or4k44 UTSW 2 111,368,488 (GRCm39) missense probably benign 0.04
R9321:Or4k44 UTSW 2 111,368,434 (GRCm39) missense probably damaging 1.00
Z1088:Or4k44 UTSW 2 111,368,159 (GRCm39) missense possibly damaging 0.89
Z1176:Or4k44 UTSW 2 111,368,630 (GRCm39) start codon destroyed probably null 1.00
Posted On 2015-04-16