Incidental Mutation 'IGL02571:Olfr1441'
ID298995
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1441
Ensembl Gene ENSMUSG00000050815
Gene Nameolfactory receptor 1441
SynonymsGA_x6K02T2RE5P-2753221-2754177, MOR215-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL02571
Quality Score
Status
Chromosome19
Chromosomal Location12417433-12423569 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 12422886 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 192 (S192R)
Ref Sequence ENSEMBL: ENSMUSP00000150739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059033] [ENSMUST00000214153] [ENSMUST00000216506]
Predicted Effect possibly damaging
Transcript: ENSMUST00000059033
AA Change: S192R

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000061963
Gene: ENSMUSG00000050815
AA Change: S192R

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 2.7e-52 PFAM
Pfam:7tm_1 42 313 5e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214153
AA Change: S192R

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216506
AA Change: S192R

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a2 T C 14: 60,012,458 probably benign Het
Cacna2d2 G A 9: 107,525,646 E885K possibly damaging Het
Cyp4f17 A G 17: 32,524,904 E352G probably benign Het
Dip2b T C 15: 100,157,885 W373R possibly damaging Het
Fam71b G T 11: 46,405,245 R148L probably damaging Het
Gem C A 4: 11,713,628 Q255K probably benign Het
Herc1 T C 9: 66,434,605 probably benign Het
Herc2 A T 7: 56,153,386 N2161I probably damaging Het
Ift172 A G 5: 31,257,891 F1325L probably damaging Het
Irgc1 T C 7: 24,432,591 K267R probably damaging Het
Kif1a A G 1: 93,020,456 probably null Het
Lifr G T 15: 7,190,111 probably benign Het
Mrpl12 A G 11: 120,485,432 probably null Het
Mrps18c A G 5: 100,801,975 D74G probably damaging Het
Mtus1 C T 8: 41,083,482 G399D possibly damaging Het
Nf1 T C 11: 79,428,627 I536T probably damaging Het
Pcdh9 A G 14: 93,560,587 probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rubcnl A T 14: 75,032,136 Q78L possibly damaging Het
Sis C A 3: 72,956,304 probably benign Het
Tbc1d2 T C 4: 46,628,370 M320V probably benign Het
Vmn1r178 C T 7: 23,894,235 T236I probably damaging Het
Xpc T C 6: 91,504,071 D273G probably benign Het
Zfhx4 A C 3: 5,329,523 N1033T probably damaging Het
Zfp646 A G 7: 127,879,412 T254A probably damaging Het
Other mutations in Olfr1441
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01446:Olfr1441 APN 19 12422801 missense possibly damaging 0.91
IGL01653:Olfr1441 APN 19 12422372 missense probably benign
IGL01667:Olfr1441 APN 19 12422756 missense probably benign
IGL01903:Olfr1441 APN 19 12422683 missense probably benign 0.00
IGL02547:Olfr1441 APN 19 12422311 start codon destroyed probably benign 0.38
IGL03310:Olfr1441 APN 19 12422927 missense probably benign
R0539:Olfr1441 UTSW 19 12422809 missense probably damaging 0.97
R0918:Olfr1441 UTSW 19 12423235 missense probably benign 0.25
R1463:Olfr1441 UTSW 19 12422888 missense probably benign 0.41
R4301:Olfr1441 UTSW 19 12422717 missense probably damaging 0.98
R4785:Olfr1441 UTSW 19 12422977 missense probably damaging 0.99
R5513:Olfr1441 UTSW 19 12422683 missense probably benign 0.00
R6188:Olfr1441 UTSW 19 12422610 missense probably benign 0.01
R6411:Olfr1441 UTSW 19 12422986 missense probably benign 0.08
R6625:Olfr1441 UTSW 19 12422841 missense probably damaging 1.00
R6944:Olfr1441 UTSW 19 12423264 missense probably benign
R7425:Olfr1441 UTSW 19 12422840 missense probably damaging 1.00
R7465:Olfr1441 UTSW 19 12423145 missense probably damaging 1.00
Posted On2015-04-16