Mutagenetix > Incidental Mutation

Incidental Mutation 'R0388:Or5al6'

31391

Institutional Source

Beutler Lab

Gene Symbol

Or5al6

Ensembl Gene

ENSMUSG00000075203

Gene Name

olfactory receptor family 5 subfamily AL member 6

Synonyms

Olfr1040, MOR185-12, GA_x6K02T2Q125-47615732-47614791

MMRRC Submission

038594-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R0388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85976135-85977076 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85976974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 35 (Y35H)

Ref Sequence

ENSEMBL: ENSMUSP00000097493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099909]

AlphaFold

A2ARY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000099909
AA Change: Y35H

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

SMART Domains

Protein: ENSMUSP00000097493
Gene: ENSMUSG00000075203
AA Change: Y35H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	8.2e-48	PFAM
Pfam:7tm_1	41	290	5.1e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215884

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
Acsbg1	T	C	9: 54,516,347 (GRCm39)	K678R	probably damaging	Het
Adgrg6	A	G	10: 14,326,402 (GRCm39)	I410T	probably benign	Het
Afap1l2	A	C	19: 56,905,674 (GRCm39)		probably benign	Het
Aox1	T	C	1: 58,393,565 (GRCm39)	Y1242H	probably damaging	Het
Apoo-ps	T	C	13: 107,551,173 (GRCm39)		noncoding transcript	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Cdh3	C	A	8: 107,265,761 (GRCm39)	T268K	probably damaging	Het
Chd5	T	A	4: 152,456,101 (GRCm39)	H923Q	probably damaging	Het
Chd7	T	C	4: 8,854,560 (GRCm39)	V1967A	probably benign	Het
Cntn3	T	C	6: 102,254,277 (GRCm39)	M222V	probably damaging	Het
Dcaf17	A	G	2: 70,908,915 (GRCm39)	K277R	probably benign	Het
Dmbt1	T	C	7: 130,697,779 (GRCm39)		probably benign	Het
Dmpk	T	A	7: 18,818,002 (GRCm39)		probably benign	Het
Dzank1	A	T	2: 144,318,026 (GRCm39)	L714Q	possibly damaging	Het
Efcab3	A	G	11: 105,000,227 (GRCm39)	D272G	possibly damaging	Het
Erbb2	G	C	11: 98,318,177 (GRCm39)	R471P	possibly damaging	Het
Esf1	T	A	2: 139,962,791 (GRCm39)	Y760F	possibly damaging	Het
Fanci	C	A	7: 79,089,378 (GRCm39)	T938K	probably benign	Het
Gnai3	A	G	3: 108,023,073 (GRCm39)		probably benign	Het
Hspg2	T	A	4: 137,238,469 (GRCm39)	C319S	probably damaging	Het
Il12a	T	A	3: 68,602,520 (GRCm39)		probably null	Het
Inpp4a	A	G	1: 37,435,241 (GRCm39)	D837G	probably damaging	Het
Kcnj5	T	A	9: 32,229,159 (GRCm39)	E13V	probably damaging	Het
Kcnq3	T	A	15: 65,871,887 (GRCm39)	Y594F	probably benign	Het
Kif16b	T	C	2: 142,582,857 (GRCm39)	E556G	probably damaging	Het
Kif28	T	C	1: 179,567,654 (GRCm39)	I39V	possibly damaging	Het
Lgi2	T	C	5: 52,711,891 (GRCm39)	E143G	probably damaging	Het
Mast1	T	G	8: 85,642,166 (GRCm39)	I1063L	probably benign	Het
Med12l	T	C	3: 59,000,925 (GRCm39)		probably benign	Het
Mmp19	G	T	10: 128,634,752 (GRCm39)	R456L	probably benign	Het
Mon1b	T	A	8: 114,365,710 (GRCm39)	V346E	probably damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Mrgpra9	A	T	7: 46,902,542 (GRCm39)	M1K	probably null	Het
Mycbp2	A	T	14: 103,394,103 (GRCm39)	H2819Q	probably benign	Het
Nav1	A	C	1: 135,376,655 (GRCm39)		probably benign	Het
Neurl4	T	C	11: 69,802,559 (GRCm39)		probably benign	Het
Ntng2	G	C	2: 29,097,438 (GRCm39)	P341R	probably damaging	Het
Oas1d	A	T	5: 121,055,091 (GRCm39)	Y221F	probably damaging	Het
Or1j19	C	A	2: 36,676,874 (GRCm39)	D112E	probably benign	Het
Or1l4	A	C	2: 37,092,196 (GRCm39)		probably null	Het
Osbpl8	A	G	10: 111,108,143 (GRCm39)	M380V	probably benign	Het
Pank1	T	C	19: 34,799,106 (GRCm39)		probably benign	Het
Parn	T	C	16: 13,472,340 (GRCm39)	D169G	possibly damaging	Het
Pknox1	T	A	17: 31,822,166 (GRCm39)	I311N	probably damaging	Het
Pprc1	T	C	19: 46,051,214 (GRCm39)	V248A	possibly damaging	Het
Prkcq	T	C	2: 11,259,045 (GRCm39)	C322R	probably benign	Het
Ptpn13	T	A	5: 103,702,928 (GRCm39)	I1298N	probably benign	Het
Rab11fip3	A	G	17: 26,288,046 (GRCm39)	S36P	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sass6	C	A	3: 116,400,957 (GRCm39)		probably benign	Het
Shroom3	G	A	5: 93,099,152 (GRCm39)	G1463D	probably benign	Het
Slc35d1	A	T	4: 103,042,084 (GRCm39)	Y249*	probably null	Het
Slc9a3	C	T	13: 74,269,655 (GRCm39)	P8S	unknown	Het
Slc9a9	T	A	9: 94,821,616 (GRCm39)		probably null	Het
Sting1	A	G	18: 35,868,164 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,033,749 (GRCm39)	M3666K	probably benign	Het
Synpo2	A	G	3: 122,873,546 (GRCm39)	V1140A	probably benign	Het
Thada	A	G	17: 84,538,524 (GRCm39)	F1495L	probably benign	Het
Timeless	A	G	10: 128,077,294 (GRCm39)		probably null	Het
Tlr6	G	T	5: 65,112,548 (GRCm39)	H120N	possibly damaging	Het
Tns3	T	C	11: 8,395,703 (GRCm39)	I1234V	probably benign	Het
Ttll9	A	G	2: 152,842,099 (GRCm39)	S318G	probably benign	Het
Vps13c	T	C	9: 67,830,197 (GRCm39)		probably benign	Het
Zfp933	T	C	4: 147,910,899 (GRCm39)	I232M	probably benign	Het
Zfyve27	T	C	19: 42,178,024 (GRCm39)	S382P	probably damaging	Het

Other mutations in Or5al6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Or5al6	APN	2	85,976,955 (GRCm39)	missense	probably benign	0.22
IGL01106:Or5al6	APN	2	85,976,560 (GRCm39)	missense	probably benign	0.09
IGL02193:Or5al6	APN	2	85,977,059 (GRCm39)	missense	probably benign	0.00
IGL02730:Or5al6	APN	2	85,976,443 (GRCm39)	missense	probably benign	0.05
IGL03032:Or5al6	APN	2	85,977,043 (GRCm39)	missense	probably damaging	1.00
IGL03165:Or5al6	APN	2	85,976,412 (GRCm39)	missense	possibly damaging	0.91
R2971:Or5al6	UTSW	2	85,976,908 (GRCm39)	missense	probably damaging	0.96
R4168:Or5al6	UTSW	2	85,976,523 (GRCm39)	missense	probably benign	0.03
R4532:Or5al6	UTSW	2	85,976,274 (GRCm39)	missense	possibly damaging	0.77
R5024:Or5al6	UTSW	2	85,976,877 (GRCm39)	missense	probably damaging	1.00
R5175:Or5al6	UTSW	2	85,976,301 (GRCm39)	missense	probably damaging	1.00
R5574:Or5al6	UTSW	2	85,976,535 (GRCm39)	missense	probably damaging	1.00
R6033:Or5al6	UTSW	2	85,976,613 (GRCm39)	missense	probably damaging	0.97
R6033:Or5al6	UTSW	2	85,976,613 (GRCm39)	missense	probably damaging	0.97
R6137:Or5al6	UTSW	2	85,976,313 (GRCm39)	missense	probably benign
R6945:Or5al6	UTSW	2	85,976,428 (GRCm39)	missense	probably damaging	1.00
R6980:Or5al6	UTSW	2	85,976,681 (GRCm39)	nonsense	probably null
R7065:Or5al6	UTSW	2	85,976,345 (GRCm39)	missense	probably damaging	1.00
R8264:Or5al6	UTSW	2	85,976,538 (GRCm39)	missense	probably damaging	1.00
R9039:Or5al6	UTSW	2	85,976,625 (GRCm39)	missense	probably damaging	1.00
R9224:Or5al6	UTSW	2	85,976,220 (GRCm39)	missense	probably damaging	1.00
R9745:Or5al6	UTSW	2	85,976,251 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCAGCAATGATTAGCAACATCAGC -3'
(R):5'- CACTTGGAATGAGTGTGGTGACTCC -3'

Sequencing Primer
(F):5'- CTTTTTAGGCATGAGGACCAC -3'
(R):5'- GTGACTCCTTTTGAGTGGTAAACAC -3'

Posted On

2013-04-24