Mutagenetix > Incidental Mutation

Incidental Mutation 'R2964:Or1l8'

477520

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

MMRRC Submission

040520-MU

Accession Numbers

Essential gene?

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

Stock #

R2964 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36817192-36818124 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36817419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 236 (R236C)

Ref Sequence

ENSEMBL: ENSMUSP00000151206 (fasta)

Gene Model

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

AlphaFold

Q8VFP6

Predicted Effect

probably benign
Transcript: ENSMUST00000100147
AA Change: R236C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097725
Gene: ENSMUSG00000075380
AA Change: R236C

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

probably benign
Transcript: ENSMUST00000213574
AA Change: R236C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (43/43)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,275,829 (GRCm39)	R511*	probably null	Het
Acox3	T	C	5: 35,762,611 (GRCm39)	I495T	possibly damaging	Het
Acsl3	A	G	1: 78,672,011 (GRCm39)	S302G	probably benign	Het
Ap1s1	T	C	5: 137,066,357 (GRCm39)	D148G	probably damaging	Het
Asprv1	T	A	6: 86,605,348 (GRCm39)	C65S	probably damaging	Het
Cdkal1	A	G	13: 29,628,018 (GRCm39)	S39P	unknown	Het
Chrna2	T	C	14: 66,386,817 (GRCm39)	V321A	possibly damaging	Het
Chsy1	G	A	7: 65,821,912 (GRCm39)	G716R	probably damaging	Het
Col13a1	G	A	10: 61,797,110 (GRCm39)	R106W	probably damaging	Het
Cul9	A	G	17: 46,813,154 (GRCm39)	V2355A	probably damaging	Het
Cwh43	T	C	5: 73,565,679 (GRCm39)		probably benign	Het
Dbi	C	T	1: 120,047,846 (GRCm39)		probably benign	Het
Dync1h1	G	A	12: 110,607,460 (GRCm39)		probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw21	A	G	9: 108,974,578 (GRCm39)	I314T	probably benign	Het
Fstl3	T	C	10: 79,617,057 (GRCm39)	V200A	probably benign	Het
Gpr45	G	A	1: 43,071,668 (GRCm39)	D104N	possibly damaging	Het
Gsdma2	T	C	11: 98,548,085 (GRCm39)	S184P	probably damaging	Het
Gtf2ird1	T	C	5: 134,386,538 (GRCm39)		probably null	Het
H2-T22	A	G	17: 36,351,537 (GRCm39)	L231S	probably damaging	Het
Hrh4	T	C	18: 13,155,426 (GRCm39)	C322R	probably benign	Het
Ing1	T	A	8: 11,611,641 (GRCm39)	S26R	probably benign	Het
Kif3a	A	T	11: 53,469,757 (GRCm39)	I123F	probably damaging	Het
Lrp6	T	C	6: 134,444,489 (GRCm39)	E1127G	probably damaging	Het
Ltf	G	T	9: 110,857,540 (GRCm39)	C443F	possibly damaging	Het
Mdc1	A	T	17: 36,164,529 (GRCm39)	Q1359L	possibly damaging	Het
Mdga1	A	T	17: 30,071,442 (GRCm39)	I393N	probably damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Myo3a	T	C	2: 22,345,067 (GRCm39)	V509A	possibly damaging	Het
Nav2	C	T	7: 49,206,780 (GRCm39)	T1535I	probably damaging	Het
Nlrp4d	G	T	7: 10,112,256 (GRCm39)	S626*	probably null	Het
Nup188	T	A	2: 30,215,358 (GRCm39)	I732K	probably damaging	Het
Oprm1	T	C	10: 6,738,914 (GRCm39)	S14P	probably damaging	Het
Or1j12	T	C	2: 36,342,779 (GRCm39)	F61L	probably damaging	Het
Or5b101	C	T	19: 13,005,412 (GRCm39)	A94T	probably benign	Het
Pigr	G	A	1: 130,769,272 (GRCm39)	V28M	probably damaging	Het
Pnpla2	C	T	7: 141,038,391 (GRCm39)	L215F	probably damaging	Het
Pth	T	C	7: 112,985,136 (GRCm39)	H79R	probably benign	Het
Rasal1	T	A	5: 120,809,685 (GRCm39)	L530Q	probably damaging	Het
Sdccag8	A	T	1: 176,775,937 (GRCm39)	K616M	possibly damaging	Het
Slc4a5	C	T	6: 83,273,651 (GRCm39)	T997I	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Trav7d-4	C	T	14: 53,007,584 (GRCm39)	Q26*	probably null	Het
Zcchc8	A	G	5: 123,858,930 (GRCm39)	S22P	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
BB002:Or1l8	UTSW	2	36,817,371 (GRCm39)	missense	possibly damaging	0.80
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
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

Posted On

2017-05-15