Mutagenetix > Incidental Mutation

Incidental Mutation 'BB002:Or1l8'

642145

Institutional Source

Beutler Lab

Gene Symbol

Or1l8

Ensembl Gene

ENSMUSG00000075380

Gene Name

olfactory receptor family 1 subfamily L member 8

Synonyms

Olfr355, MOR138-2, GA_x6K02T2NLDC-33622642-33621710

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.401) question?

Stock #

BB002

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36817192-36818124 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36817371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 252 (F252L)

Ref Sequence

ENSEMBL: ENSMUSP00000151206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100147] [ENSMUST00000213574]

AlphaFold

Q8VFP6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100147
AA Change: F252L

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097725
Gene: ENSMUSG00000075380
AA Change: F252L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	2.9e-55	PFAM
Pfam:7tm_1	42	290	2.2e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213574
AA Change: F252L

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,643,506 (GRCm39)	Q392*	probably null	Het
4933427D14Rik	A	C	11: 72,071,327 (GRCm39)	L473V	probably benign	Het
A930002H24Rik	A	T	17: 64,170,392 (GRCm39)	V132E	unknown	Het
Abcc2	A	G	19: 43,795,551 (GRCm39)	I436V	probably benign	Het
Ahr	G	A	12: 35,565,067 (GRCm39)	Q103*	probably null	Het
Asb15	T	A	6: 24,562,723 (GRCm39)	H228Q	probably benign	Het
Asphd1	T	A	7: 126,547,628 (GRCm39)	Y225F	probably damaging	Het
Atp2c1	A	G	9: 105,319,969 (GRCm39)	M468T	possibly damaging	Het
Brca1	A	G	11: 101,398,972 (GRCm39)	I1540T	probably benign	Het
Ccn5	G	C	2: 163,670,961 (GRCm39)	R156T	possibly damaging	Het
Cdh20	A	T	1: 104,912,473 (GRCm39)	I576F	probably damaging	Het
Chst11	T	A	10: 83,026,788 (GRCm39)	S72T	probably damaging	Het
Cldn17	T	G	16: 88,303,533 (GRCm39)	K65N	probably damaging	Het
Cldn22	T	C	8: 48,278,222 (GRCm39)	I220T	probably benign	Het
Coasy	T	G	11: 100,974,522 (GRCm39)	D229E	probably benign	Het
Colec10	T	C	15: 54,325,767 (GRCm39)	V199A	probably damaging	Het
Cpn2	G	T	16: 30,079,619 (GRCm39)	D27E	probably damaging	Het
F5	T	A	1: 164,003,935 (GRCm39)		probably null	Het
Fat3	C	T	9: 15,942,656 (GRCm39)	V1239I	possibly damaging	Het
Fbxl16	A	G	17: 26,035,880 (GRCm39)	N159S	probably benign	Het
Fhad1	A	G	4: 141,681,498 (GRCm39)	I514T	probably damaging	Het
Fras1	A	G	5: 96,929,443 (GRCm39)	K3949R	probably damaging	Het
Gm8126	A	G	14: 43,119,023 (GRCm39)	N164S	probably damaging	Het
Grm3	T	A	5: 9,639,880 (GRCm39)	E55V	probably benign	Het
Itgbl1	G	A	14: 124,210,735 (GRCm39)	D478N	possibly damaging	Het
Kcnt2	T	A	1: 140,282,247 (GRCm39)	Y77*	probably null	Het
Kdm4c	T	C	4: 74,323,058 (GRCm39)	S997P	probably damaging	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Lrrc28	T	C	7: 67,268,857 (GRCm39)	Y71C	probably damaging	Het
Lrrc45	T	A	11: 120,606,706 (GRCm39)	W203R	probably benign	Het
Lrrc66	A	T	5: 73,765,835 (GRCm39)	C403S	possibly damaging	Het
Ly6g6e	A	T	17: 35,296,894 (GRCm39)	E45V	probably damaging	Het
Mgam	C	T	6: 40,735,985 (GRCm39)	T1574I	probably damaging	Het
Msrb2	A	T	2: 19,388,091 (GRCm39)	M80L	probably benign	Het
Musk	T	A	4: 58,367,513 (GRCm39)	L592Q	probably damaging	Het
Nlrp4a	C	A	7: 26,150,011 (GRCm39)	N539K	probably benign	Het
Obscn	C	G	11: 59,003,381 (GRCm39)	E1306Q	probably benign	Het
Opalin	T	A	19: 41,052,242 (GRCm39)	*144C	probably null	Het
Or1e28-ps1	A	G	11: 73,615,362 (GRCm39)	S163P	unknown	Het
Or4f4-ps1	A	G	2: 111,330,166 (GRCm39)	S190G	probably damaging	Het
Or9g4	T	C	2: 85,504,907 (GRCm39)	E196G		Het
Pgam2	T	A	11: 5,753,007 (GRCm39)	H196L	possibly damaging	Het
Prrc2b	A	G	2: 32,094,127 (GRCm39)	E503G	probably damaging	Het
Prss45	T	C	9: 110,670,103 (GRCm39)	L304P	unknown	Het
Rbm20	T	A	19: 53,801,753 (GRCm39)	V87D	probably damaging	Het
Rskr	T	C	11: 78,182,449 (GRCm39)	L86P	probably damaging	Het
Serpinb8	T	C	1: 107,526,715 (GRCm39)	L85S	probably benign	Het
Sh2b2	A	T	5: 136,253,115 (GRCm39)	H352Q	probably benign	Het
Slc6a17	T	C	3: 107,403,056 (GRCm39)	I124V	probably damaging	Het
Smim10l1	G	A	6: 133,082,545 (GRCm39)	V31M	probably damaging	Het
Snx10	T	C	6: 51,557,301 (GRCm39)	S78P	probably benign	Het
Stard10	T	C	7: 100,991,838 (GRCm39)	V187A	probably damaging	Het
Svil	C	A	18: 5,118,357 (GRCm39)	D2146E	probably benign	Het
Tsc22d4	A	G	5: 137,749,627 (GRCm39)	D301G	probably null	Het
Ube3c	T	A	5: 29,851,429 (GRCm39)	I752N	probably damaging	Het
Wwc1	T	C	11: 35,734,990 (GRCm39)	M962V	probably benign	Het

Other mutations in Or1l8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01919:Or1l8	APN	2	36,817,824 (GRCm39)	nonsense	probably null
IGL02523:Or1l8	APN	2	36,817,967 (GRCm39)	missense	probably damaging	0.99
BB012:Or1l8	UTSW	2	36,817,371 (GRCm39)	missense	possibly damaging	0.80
IGL03050:Or1l8	UTSW	2	36,817,820 (GRCm39)	missense	probably damaging	0.99
R0458:Or1l8	UTSW	2	36,817,349 (GRCm39)	missense	probably damaging	1.00
R1019:Or1l8	UTSW	2	36,817,764 (GRCm39)	missense	probably benign	0.00
R1115:Or1l8	UTSW	2	36,817,514 (GRCm39)	missense	possibly damaging	0.72
R1460:Or1l8	UTSW	2	36,817,820 (GRCm39)	missense	probably damaging	0.99
R1663:Or1l8	UTSW	2	36,817,346 (GRCm39)	missense	probably damaging	1.00
R1902:Or1l8	UTSW	2	36,817,197 (GRCm39)	missense	probably benign	0.00
R2964:Or1l8	UTSW	2	36,817,419 (GRCm39)	missense	probably benign	0.00
R4751:Or1l8	UTSW	2	36,817,595 (GRCm39)	missense	probably damaging	1.00
R4884:Or1l8	UTSW	2	36,818,024 (GRCm39)	missense	possibly damaging	0.65
R4935:Or1l8	UTSW	2	36,817,713 (GRCm39)	missense	probably benign	0.05
R6114:Or1l8	UTSW	2	36,817,701 (GRCm39)	missense	possibly damaging	0.93
R6184:Or1l8	UTSW	2	36,817,404 (GRCm39)	missense	probably damaging	1.00
R6476:Or1l8	UTSW	2	36,817,595 (GRCm39)	missense	possibly damaging	0.75
R7167:Or1l8	UTSW	2	36,817,533 (GRCm39)	missense	probably benign	0.00
R7323:Or1l8	UTSW	2	36,817,986 (GRCm39)	missense	probably damaging	1.00
R7539:Or1l8	UTSW	2	36,817,221 (GRCm39)	missense	probably benign	0.02
R7925:Or1l8	UTSW	2	36,817,371 (GRCm39)	missense	possibly damaging	0.80
R8284:Or1l8	UTSW	2	36,818,018 (GRCm39)	missense	probably damaging	0.99
R9786:Or1l8	UTSW	2	36,817,416 (GRCm39)	nonsense	probably null
X0025:Or1l8	UTSW	2	36,817,962 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GCCTAAGTGGGGTAGACTTG -3'
(R):5'- GCTCCTCCACATTTGTCAATGAG -3'

Sequencing Primer
(F):5'- GTCAAGAGATGCTACTTAGATGTGTC -3'
(R):5'- CCTCCACATTTGTCAATGAGATTGTG -3'

Posted On

2020-08-01