Incidental Mutation 'IGL01547:Or14c44'
ID 90353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or14c44
Ensembl Gene ENSMUSG00000061549
Gene Name olfactory receptor family 14 subfamily C member 44
Synonyms GA_x6K02T2NHDJ-9695951-9695766, Olfr302, Olfr1531-ps1, Olfr301, GA_x6K02T2NHDJ-9693313-9692378, MOR221-4, MOR221-1P, MOR221-1P, MOR211-8P
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL01547
Quality Score
Status
Chromosome 7
Chromosomal Location 86053057-86062507 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86062079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 170 (N170D)
Ref Sequence ENSEMBL: ENSMUSP00000133780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000174362]
AlphaFold Q7TS04
Predicted Effect possibly damaging
Transcript: ENSMUST00000073222
AA Change: N211D

PolyPhen 2 Score 0.720 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072955
Gene: ENSMUSG00000061549
AA Change: N211D

DomainStartEndE-ValueType
Pfam:7tm_4 70 348 4.7e-46 PFAM
Pfam:7tm_1 80 330 1.5e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000174362
AA Change: N170D

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133780
Gene: ENSMUSG00000061549
AA Change: N170D

DomainStartEndE-ValueType
low complexity region 21 38 N/A INTRINSIC
Pfam:7tm_1 39 289 2e-28 PFAM
Pfam:7tm_4 137 282 1.1e-40 PFAM
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik G A 4: 137,182,573 (GRCm39) G243R possibly damaging Het
Afg3l1 T C 8: 124,228,090 (GRCm39) V625A probably benign Het
Arhgap39 T C 15: 76,622,015 (GRCm39) probably benign Het
Bag1 A G 4: 40,936,661 (GRCm39) C332R probably damaging Het
Bcas2 T C 3: 103,079,315 (GRCm39) Y49H probably damaging Het
Cacna1b C A 2: 24,522,047 (GRCm39) probably benign Het
Cdyl A G 13: 35,974,145 (GRCm39) D53G possibly damaging Het
Csmd3 T C 15: 47,747,013 (GRCm39) I1322V probably benign Het
Evc2 C A 5: 37,550,431 (GRCm39) A815E probably benign Het
Gm6309 C T 5: 146,105,221 (GRCm39) D231N probably benign Het
Mtfr2 C T 10: 20,233,345 (GRCm39) P305S probably damaging Het
Or51k1 A T 7: 103,661,867 (GRCm39) I14N probably benign Het
Or7d10 A T 9: 19,832,197 (GRCm39) I231F probably benign Het
Pcdhb1 A G 18: 37,400,395 (GRCm39) H782R probably benign Het
Polr2a A G 11: 69,635,768 (GRCm39) S480P probably damaging Het
Scaf11 T C 15: 96,316,310 (GRCm39) T1085A probably benign Het
Sema6c C T 3: 95,079,709 (GRCm39) R668C probably damaging Het
Tas2r123 C T 6: 132,824,421 (GRCm39) T106I probably damaging Het
Tgm5 A G 2: 120,879,683 (GRCm39) probably benign Het
Vmn2r23 T A 6: 123,681,383 (GRCm39) I97N possibly damaging Het
Vmn2r6 T A 3: 64,445,525 (GRCm39) K644N probably damaging Het
Zfp608 A G 18: 55,027,521 (GRCm39) probably null Het
Other mutations in Or14c44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Or14c44 APN 7 86,061,998 (GRCm39) missense probably damaging 1.00
IGL01459:Or14c44 APN 7 86,061,759 (GRCm39) missense probably damaging 1.00
IGL01538:Or14c44 APN 7 86,062,167 (GRCm39) missense possibly damaging 0.80
R0918:Or14c44 UTSW 7 86,062,403 (GRCm39) missense probably benign 0.01
R1559:Or14c44 UTSW 7 86,061,575 (GRCm39) missense probably benign 0.00
R1651:Or14c44 UTSW 7 86,057,078 (GRCm39) utr 5 prime probably benign
R2411:Or14c44 UTSW 7 86,062,290 (GRCm39) missense possibly damaging 0.51
R3732:Or14c44 UTSW 7 86,061,841 (GRCm39) missense probably damaging 0.98
R3832:Or14c44 UTSW 7 86,062,401 (GRCm39) missense probably damaging 1.00
R5175:Or14c44 UTSW 7 86,062,254 (GRCm39) missense probably benign 0.00
R5372:Or14c44 UTSW 7 86,062,176 (GRCm39) missense possibly damaging 0.66
R5413:Or14c44 UTSW 7 86,061,675 (GRCm39) missense probably benign
R5520:Or14c44 UTSW 7 86,062,064 (GRCm39) missense probably benign 0.02
R5579:Or14c44 UTSW 7 86,061,934 (GRCm39) nonsense probably null
R6037:Or14c44 UTSW 7 86,062,478 (GRCm39) missense probably benign 0.02
R6037:Or14c44 UTSW 7 86,062,478 (GRCm39) missense probably benign 0.02
R7251:Or14c44 UTSW 7 86,062,209 (GRCm39) missense probably benign
R7340:Or14c44 UTSW 7 86,061,957 (GRCm39) missense possibly damaging 0.92
R7860:Or14c44 UTSW 7 86,057,119 (GRCm39) start gained probably benign
R8305:Or14c44 UTSW 7 86,061,987 (GRCm39) missense probably damaging 1.00
R8338:Or14c44 UTSW 7 86,061,702 (GRCm39) missense probably benign 0.14
R8487:Or14c44 UTSW 7 86,061,647 (GRCm39) missense probably benign 0.34
R8799:Or14c44 UTSW 7 86,061,854 (GRCm39) missense probably damaging 1.00
R9342:Or14c44 UTSW 7 86,062,430 (GRCm39) missense probably benign 0.37
Z1176:Or14c44 UTSW 7 86,061,906 (GRCm39) missense probably benign 0.16
Posted On 2013-12-03