Mutagenetix > Incidental Mutation

Incidental Mutation 'R6357:Or7e173'

512380

Institutional Source

Beutler Lab

Gene Symbol

Or7e173

Ensembl Gene

ENSMUSG00000050803

Gene Name

olfactory receptor family 7 subfamily E member 173

Synonyms

Olfr866, MOR145-5, GA_x6K02T2PVTD-13768406-13767468

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R6357 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19938255-19939331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19938925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 103 (Q103L)

Ref Sequence

ENSEMBL: ENSMUSP00000054864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062248]

AlphaFold

Q8VFI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000062248
AA Change: Q103L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054864
Gene: ENSMUSG00000050803
AA Change: Q103L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	310	2e-47	PFAM
Pfam:7TM_GPCR_Srsx	38	282	8.7e-7	PFAM
Pfam:7tm_1	44	293	5.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212071

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 97.8%
20x: 92.8%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	C	17: 57,184,591 (GRCm39)		probably null	Het
Aoc1l2	A	G	6: 48,907,908 (GRCm39)	M303V	probably benign	Het
Armh4	A	T	14: 50,010,769 (GRCm39)	S313T	probably benign	Het
Calcr	T	C	6: 3,714,710 (GRCm39)	D140G	probably benign	Het
Card10	T	C	15: 78,683,579 (GRCm39)	E188G	probably damaging	Het
Cenpq	T	C	17: 41,235,418 (GRCm39)	E193G	probably damaging	Het
Cep164	G	A	9: 45,682,182 (GRCm39)	L1874F	probably damaging	Het
Dennd3	T	C	15: 73,428,321 (GRCm39)	M889T	possibly damaging	Het
Dnah9	T	C	11: 65,765,022 (GRCm39)	K3841E	probably damaging	Het
Dynlt2b	T	G	16: 32,247,873 (GRCm39)		probably null	Het
Eci2	A	G	13: 35,177,082 (GRCm39)	V26A	possibly damaging	Het
Eftud2	A	T	11: 102,755,606 (GRCm39)	N200K	probably damaging	Het
Eml5	T	A	12: 98,837,143 (GRCm39)	H357L	probably damaging	Het
Esam	T	C	9: 37,449,076 (GRCm39)	*395R	probably null	Het
Galt	C	T	4: 41,757,565 (GRCm39)	P246S	probably benign	Het
Gjb3	A	T	4: 127,220,423 (GRCm39)	Y36*	probably null	Het
Gli2	T	C	1: 118,769,689 (GRCm39)	E621G	probably damaging	Het
Gls	T	C	1: 52,258,665 (GRCm39)	D201G	probably damaging	Het
Gm10801	C	CGTCA	2: 98,494,152 (GRCm39)		probably null	Het
Gm1110	T	C	9: 26,825,424 (GRCm39)		probably null	Het
Gm5565	T	A	5: 146,097,283 (GRCm39)	H13L	possibly damaging	Het
Hydin	A	C	8: 111,268,289 (GRCm39)	T2923P	possibly damaging	Het
Kank1	A	T	19: 25,388,717 (GRCm39)	I797L	probably benign	Het
Klhdc8a	A	T	1: 132,230,891 (GRCm39)	Q252L	probably damaging	Het
Kmt5c	T	C	7: 4,745,204 (GRCm39)	F65S	possibly damaging	Het
Lix1	C	T	17: 17,666,255 (GRCm39)	P138L	probably benign	Het
Lnpep	T	C	17: 17,773,176 (GRCm39)	N664S	probably benign	Het
Msh6	T	A	17: 88,291,888 (GRCm39)	Y214*	probably null	Het
Nefl	A	G	14: 68,321,767 (GRCm39)	E119G	probably damaging	Het
Nptxr	C	A	15: 79,678,516 (GRCm39)	R257L	possibly damaging	Het
Or4k15c	C	A	14: 50,321,446 (GRCm39)	A231S	probably damaging	Het
Oxct2b	A	G	4: 123,010,709 (GRCm39)	I210V	probably benign	Het
Plppr3	T	A	10: 79,701,240 (GRCm39)	Q534L	probably benign	Het
Psma1	T	C	7: 113,873,602 (GRCm39)		probably null	Het
Rbp3	G	A	14: 33,678,991 (GRCm39)	A980T	probably damaging	Het
Ripply2	T	A	9: 86,898,331 (GRCm39)	S58R	possibly damaging	Het
Robo1	T	C	16: 72,767,190 (GRCm39)	V454A	probably benign	Het
Sacs	A	G	14: 61,446,273 (GRCm39)	D2773G	possibly damaging	Het
Sirpb1b	A	T	3: 15,568,243 (GRCm39)	V366E	possibly damaging	Het
Slc5a7	T	C	17: 54,594,389 (GRCm39)	I197M	probably benign	Het
Spata31f1a	T	A	4: 42,850,393 (GRCm39)	I588F	probably damaging	Het
Spmap2	T	C	10: 79,422,789 (GRCm39)	S38G	probably benign	Het
Srgap2	T	C	1: 131,283,280 (GRCm39)	Y267C	probably damaging	Het
Ssc4d	T	C	5: 135,994,950 (GRCm39)	T189A	probably benign	Het
Tas2r106	A	G	6: 131,654,925 (GRCm39)	*309Q	probably null	Het
Vmn2r44	T	C	7: 8,373,657 (GRCm39)	M511V	probably benign	Het
Wdfy4	G	T	14: 32,823,006 (GRCm39)	Y1364*	probably null	Het
Zbtb8a	T	C	4: 129,248,092 (GRCm39)	H393R	probably benign	Het

Other mutations in Or7e173

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Or7e173	APN	9	19,938,343 (GRCm39)	missense	probably damaging	1.00
IGL01554:Or7e173	APN	9	19,938,704 (GRCm39)	missense	possibly damaging	0.55
IGL01561:Or7e173	APN	9	19,938,818 (GRCm39)	missense	probably benign	0.20
IGL01597:Or7e173	APN	9	19,938,982 (GRCm39)	missense	probably damaging	0.98
IGL02986:Or7e173	APN	9	19,939,007 (GRCm39)	missense	probably benign	0.43
IGL03101:Or7e173	APN	9	19,938,725 (GRCm39)	missense	probably benign	0.03
R0863:Or7e173	UTSW	9	19,938,509 (GRCm39)	missense	probably damaging	1.00
R1747:Or7e173	UTSW	9	19,938,613 (GRCm39)	missense	probably benign	0.01
R2121:Or7e173	UTSW	9	19,938,797 (GRCm39)	missense	probably benign
R2124:Or7e173	UTSW	9	19,938,797 (GRCm39)	missense	probably benign
R2240:Or7e173	UTSW	9	19,938,440 (GRCm39)	missense	probably damaging	1.00
R3793:Or7e173	UTSW	9	19,938,359 (GRCm39)	missense	probably damaging	1.00
R4498:Or7e173	UTSW	9	19,939,029 (GRCm39)	missense	possibly damaging	0.50
R5084:Or7e173	UTSW	9	19,938,551 (GRCm39)	missense	probably damaging	0.99
R5420:Or7e173	UTSW	9	19,938,355 (GRCm39)	missense	probably damaging	0.98
R6314:Or7e173	UTSW	9	19,938,958 (GRCm39)	missense	probably damaging	0.98
R6588:Or7e173	UTSW	9	19,939,162 (GRCm39)	missense	probably damaging	0.97
R6886:Or7e173	UTSW	9	19,938,428 (GRCm39)	missense	probably benign	0.00
R7480:Or7e173	UTSW	9	19,939,230 (GRCm39)	start codon destroyed	probably null
R9026:Or7e173	UTSW	9	19,938,344 (GRCm39)	missense
R9168:Or7e173	UTSW	9	19,938,818 (GRCm39)	missense	probably benign	0.20
R9280:Or7e173	UTSW	9	19,938,639 (GRCm39)	missense	probably benign	0.00
R9559:Or7e173	UTSW	9	19,939,216 (GRCm39)	missense	probably benign
R9562:Or7e173	UTSW	9	19,939,045 (GRCm39)	missense	probably damaging	1.00
Z1088:Or7e173	UTSW	9	19,938,575 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCCGGAAGCAAGTATCTTG -3'
(R):5'- ACAGTGCTTGGGAATCTGCTC -3'

Sequencing Primer
(F):5'- GCAATCAAATTGTGCAGCTGTG -3'
(R):5'- GGGAATCTGCTCATCATCCTG -3'

Posted On

2018-04-27