Mutagenetix > Incidental Mutation

Incidental Mutation 'B5639:Or5d16'

557

Institutional Source

Beutler Lab

Gene Symbol

Or5d16

Ensembl Gene

ENSMUSG00000075145

Gene Name

olfactory receptor family 5 subfamily D member 16

Synonyms

Olfr1155, GA_x6K02T2Q125-49426894-49425950, MOR174-10

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

B5639 of strain 3d

Quality Score

Status

Validated

Chromosome

Chromosomal Location

87773026-87773970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87773942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 10 (S10F)

Ref Sequence

ENSEMBL: ENSMUSP00000149428 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099843] [ENSMUST00000214641] [ENSMUST00000215903] [ENSMUST00000216191] [ENSMUST00000216726]

AlphaFold

Q8VFR3

Predicted Effect

probably benign
Transcript: ENSMUST00000099843
AA Change: S10F

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000097431
Gene: ENSMUSG00000075145
AA Change: S10F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	310	2.7e-44	PFAM
Pfam:7tm_1	43	292	5.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214641
AA Change: S10F

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000215903
AA Change: S10F

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000216191

Predicted Effect

probably benign
Transcript: ENSMUST00000216726

Meta Mutation Damage Score

0.1056

Coding Region Coverage

1x: 89.7%
3x: 78.3%

Het Detection Efficiency

55.9%

Validation Efficiency

83% (206/248)

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dnmt1	G	A	9: 20,819,264 (GRCm39)		probably benign	Het
Eno1	A	G	4: 150,329,569 (GRCm39)		probably benign	Het
Ercc8	G	A	13: 108,297,257 (GRCm39)	G56R	probably damaging	Homo
Fam237b	C	T	5: 5,624,060 (GRCm39)		probably benign	Homo
Idh1	A	G	1: 65,204,257 (GRCm39)		probably null	Homo
Incenp	G	A	19: 9,871,182 (GRCm39)	T149I	unknown	Het
Or5k17	A	T	16: 58,746,889 (GRCm39)	I15K	probably benign	Homo
Pdk2	T	C	11: 94,923,324 (GRCm39)	D100G	possibly damaging	Homo
Prss56	T	C	1: 87,114,892 (GRCm39)	L465P	probably benign	Homo
Slc10a3	G	A	X: 73,413,145 (GRCm39)	P416L	probably damaging	Homo
Syne2	C	A	12: 75,976,564 (GRCm39)	T1243K	probably benign	Het
Vwf	T	C	6: 125,619,947 (GRCm39)	Y1542H	probably damaging	Homo
Zc3h13	G	A	14: 75,553,479 (GRCm39)	R302Q	probably damaging	Het
Zfhx4	G	T	3: 5,468,235 (GRCm39)	G2798W	probably damaging	Homo
Zfp667	A	G	7: 6,293,544 (GRCm39)	T15A	probably damaging	Het

Other mutations in Or5d16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02507:Or5d16	APN	2	87,773,262 (GRCm39)	nonsense	probably null
IGL03245:Or5d16	APN	2	87,773,086 (GRCm39)	missense	possibly damaging	0.75
PIT4531001:Or5d16	UTSW	2	87,773,571 (GRCm39)	missense	probably damaging	1.00
R0212:Or5d16	UTSW	2	87,773,435 (GRCm39)	missense	probably damaging	1.00
R0393:Or5d16	UTSW	2	87,773,909 (GRCm39)	missense	possibly damaging	0.62
R1178:Or5d16	UTSW	2	87,773,490 (GRCm39)	missense	probably benign	0.02
R1180:Or5d16	UTSW	2	87,773,490 (GRCm39)	missense	probably benign	0.02
R1181:Or5d16	UTSW	2	87,773,490 (GRCm39)	missense	probably benign	0.02
R1266:Or5d16	UTSW	2	87,773,877 (GRCm39)	missense	probably benign	0.01
R1847:Or5d16	UTSW	2	87,773,065 (GRCm39)	splice site	probably null
R1998:Or5d16	UTSW	2	87,773,490 (GRCm39)	missense	probably benign	0.02
R2000:Or5d16	UTSW	2	87,773,490 (GRCm39)	missense	probably benign	0.02
R4119:Or5d16	UTSW	2	87,773,787 (GRCm39)	missense	probably damaging	1.00
R4213:Or5d16	UTSW	2	87,773,465 (GRCm39)	missense	probably benign	0.00
R5157:Or5d16	UTSW	2	87,773,232 (GRCm39)	missense	probably benign
R5688:Or5d16	UTSW	2	87,773,552 (GRCm39)	missense	probably benign	0.02
R5731:Or5d16	UTSW	2	87,773,771 (GRCm39)	missense	possibly damaging	0.89
R6064:Or5d16	UTSW	2	87,773,828 (GRCm39)	missense	probably benign	0.00
R6372:Or5d16	UTSW	2	87,773,319 (GRCm39)	missense	probably benign	0.00
R6505:Or5d16	UTSW	2	87,773,518 (GRCm39)	nonsense	probably null
R6555:Or5d16	UTSW	2	87,773,632 (GRCm39)	missense	probably damaging	1.00
R6909:Or5d16	UTSW	2	87,773,034 (GRCm39)	missense	probably benign	0.27
R7257:Or5d16	UTSW	2	87,773,915 (GRCm39)	missense	probably damaging	1.00
R8037:Or5d16	UTSW	2	87,773,319 (GRCm39)	missense	probably benign	0.00
R8367:Or5d16	UTSW	2	87,773,441 (GRCm39)	missense	possibly damaging	0.75
R9301:Or5d16	UTSW	2	87,773,297 (GRCm39)	missense	probably benign	0.00
Z1088:Or5d16	UTSW	2	87,773,792 (GRCm39)	missense	probably damaging	1.00
Z1176:Or5d16	UTSW	2	87,773,811 (GRCm39)	missense	probably damaging	1.00
Z1176:Or5d16	UTSW	2	87,773,553 (GRCm39)	missense	possibly damaging	0.57

Nature of Mutation

DNA sequencing using the SOLiD technique identified a C to T transition at position 29 of the Olfr1155 transcript. The mutated nucleotide causes a serine to phenylalanine substitution at amino acid 10 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (see trace files for B5639).

Protein Function and Prediction

The Olfr1155 gene encodes the 314 amino acid olfactory receptor 1155. Olfactory receptors are G-protein coupled receptors (GPCRs) and generally seven transmembrane domains, an extracellular N-terminus, and a cytoplasmic C-terminus.

The S10F change is predicted to be benign by the PolyPhen program.

Posted On

2010-11-19