Mutagenetix > Incidental Mutation

Incidental Mutation 'R6324:Or5al1'

510639

Institutional Source

Beutler Lab

Gene Symbol

Or5al1

Ensembl Gene

ENSMUSG00000075202

Gene Name

olfactory receptor family 5 subfamily AL member 1

Synonyms

Olfr1042, MOR185-10, GA_x6K02T2Q125-47629317-47628376

MMRRC Submission

044478-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85989689-85990785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85989800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 305 (V305I)

Ref Sequence

ENSEMBL: ENSMUSP00000151053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099907] [ENSMUST00000099908] [ENSMUST00000213886] [ENSMUST00000213949] [ENSMUST00000215624] [ENSMUST00000216028]

AlphaFold

Q7TR81

Predicted Effect

probably benign
Transcript: ENSMUST00000099907

SMART Domains

Protein: ENSMUSP00000097491
Gene: ENSMUSG00000075201

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	6.9e-46	PFAM
Pfam:7tm_1	41	290	1.5e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099908
AA Change: V305I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097492
Gene: ENSMUSG00000075202
AA Change: V305I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.2e-48	PFAM
Pfam:7tm_1	41	290	1.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213886

Predicted Effect

probably benign
Transcript: ENSMUST00000213949

Predicted Effect

probably benign
Transcript: ENSMUST00000215624
AA Change: V305I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216028

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

96% (47/49)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Atp13a3	A	G	16: 30,151,103 (GRCm39)	V1069A	possibly damaging	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Baz2b	A	G	2: 59,737,292 (GRCm39)	S1877P	probably damaging	Het
Ccdc27	A	T	4: 154,120,648 (GRCm39)	S383T	probably benign	Het
Cr1l	A	G	1: 194,793,430 (GRCm39)	V377A	probably benign	Het
Dazap1	A	G	10: 80,113,494 (GRCm39)	E130G	probably benign	Het
Dchs1	G	T	7: 105,414,145 (GRCm39)	A890E	probably benign	Het
Dock10	G	A	1: 80,482,893 (GRCm39)	T2143I	probably benign	Het
Eif3j1	A	G	2: 121,871,659 (GRCm39)	D60G	probably benign	Het
Enah	A	G	1: 181,746,136 (GRCm39)	S382P	probably damaging	Het
Fam171b	A	T	2: 83,709,608 (GRCm39)	K427*	probably null	Het
Fmn2	A	T	1: 174,440,119 (GRCm39)	I1179L	possibly damaging	Het
Focad	C	T	4: 88,319,305 (GRCm39)	R1505*	probably null	Het
Frem1	T	C	4: 82,901,574 (GRCm39)	T985A	probably benign	Het
Gm3404	A	T	5: 146,464,917 (GRCm39)	Q219L	possibly damaging	Het
Gm5592	A	C	7: 40,935,959 (GRCm39)	S154R	probably damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,815,365 (GRCm39)	E586G	probably damaging	Het
Gstp2	A	T	19: 4,090,499 (GRCm39)	I162N	probably benign	Het
Lin7a	T	A	10: 107,216,076 (GRCm39)		probably null	Het
Loxl4	G	A	19: 42,583,817 (GRCm39)	L745F	probably benign	Het
Ms4a19	T	A	19: 11,140,811 (GRCm39)	M3L	probably benign	Het
Mybpc1	A	G	10: 88,404,481 (GRCm39)	I172T	possibly damaging	Het
Nalcn	A	G	14: 123,647,161 (GRCm39)	W571R	possibly damaging	Het
Nkx2-5	G	C	17: 27,060,095 (GRCm39)	P79A	probably benign	Het
Nufip2	A	G	11: 77,582,487 (GRCm39)	T134A	probably benign	Het
Odad1	A	G	7: 45,591,134 (GRCm39)	E203G	probably damaging	Het
Or13p4	G	A	4: 118,547,728 (GRCm39)		probably benign	Het
Or5b109	A	G	19: 13,212,468 (GRCm39)	M285V	possibly damaging	Het
Phkb	A	G	8: 86,745,171 (GRCm39)	D616G	probably benign	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Prl7b1	A	T	13: 27,786,878 (GRCm39)		probably null	Het
Prop1	G	A	11: 50,843,026 (GRCm39)	P54S	probably benign	Het
Ptcd3	C	T	6: 71,862,311 (GRCm39)	V509I	probably benign	Het
Ptprg	T	A	14: 12,226,314 (GRCm38)	D527E	probably damaging	Het
Rapgef2	C	T	3: 78,986,439 (GRCm39)	V1182I	probably benign	Het
Rfx7	C	A	9: 72,525,696 (GRCm39)	P962Q	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Slc38a9	A	G	13: 112,862,634 (GRCm39)	I444M	probably benign	Het
Sorbs1	T	C	19: 40,310,263 (GRCm39)	T492A	probably damaging	Het
Synj1	A	T	16: 90,735,518 (GRCm39)	S1478R	probably benign	Het
Tnn	T	A	1: 159,972,774 (GRCm39)	N276I	probably damaging	Het
Trbv19	G	A	6: 41,155,692 (GRCm39)	G21D	probably damaging	Het
Ube2o	A	T	11: 116,430,185 (GRCm39)	D1184E	probably benign	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn2r108	A	T	17: 20,691,977 (GRCm39)	L182*	probably null	Het
Vmn2r15	A	G	5: 109,434,137 (GRCm39)	*856R	probably null	Het
Vmn2r70	G	A	7: 85,208,087 (GRCm39)	H797Y	probably benign	Het
Zfp11	C	T	5: 129,733,587 (GRCm39)	A625T	possibly damaging	Het

Other mutations in Or5al1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01914:Or5al1	APN	2	85,990,391 (GRCm39)	missense	probably benign	0.04
IGL02071:Or5al1	APN	2	85,990,219 (GRCm39)	missense	probably benign
IGL02935:Or5al1	APN	2	85,990,714 (GRCm39)	unclassified	probably benign
IGL03152:Or5al1	APN	2	85,990,030 (GRCm39)	missense	possibly damaging	0.95
R0089:Or5al1	UTSW	2	85,989,918 (GRCm39)	missense	possibly damaging	0.89
R1419:Or5al1	UTSW	2	85,989,773 (GRCm39)	makesense	probably null
R1699:Or5al1	UTSW	2	85,990,280 (GRCm39)	missense	probably benign
R1804:Or5al1	UTSW	2	85,990,417 (GRCm39)	missense	probably benign	0.38
R3162:Or5al1	UTSW	2	85,990,439 (GRCm39)	missense	probably benign	0.03
R3162:Or5al1	UTSW	2	85,990,439 (GRCm39)	missense	probably benign	0.03
R3609:Or5al1	UTSW	2	85,989,976 (GRCm39)	missense	probably benign	0.00
R3953:Or5al1	UTSW	2	85,990,282 (GRCm39)	missense	probably benign	0.02
R3955:Or5al1	UTSW	2	85,990,282 (GRCm39)	missense	probably benign	0.02
R3956:Or5al1	UTSW	2	85,990,282 (GRCm39)	missense	probably benign	0.02
R3957:Or5al1	UTSW	2	85,990,282 (GRCm39)	missense	probably benign	0.02
R4771:Or5al1	UTSW	2	85,990,417 (GRCm39)	missense	probably benign	0.38
R5685:Or5al1	UTSW	2	85,990,139 (GRCm39)	missense	probably damaging	0.99
R6241:Or5al1	UTSW	2	85,990,380 (GRCm39)	missense	probably damaging	1.00
R6678:Or5al1	UTSW	2	85,990,529 (GRCm39)	missense	probably damaging	0.98
R6921:Or5al1	UTSW	2	85,990,196 (GRCm39)	missense	probably benign	0.02
R7215:Or5al1	UTSW	2	85,989,800 (GRCm39)	missense	probably benign
R7386:Or5al1	UTSW	2	85,989,874 (GRCm39)	missense	possibly damaging	0.83
R8030:Or5al1	UTSW	2	85,990,586 (GRCm39)	missense	probably benign
R9694:Or5al1	UTSW	2	85,990,681 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCATTCAGTTTCACAGAGCC -3'
(R):5'- ACTTGTGCATCCCACCTGAC -3'

Sequencing Primer
(F):5'- TCCATTTCATTTGAAGTTACTGGG -3'
(R):5'- CCTGACTTCCATCACCATATTTTATG -3'

Posted On

2018-04-02