Mutagenetix > Incidental Mutation

Incidental Mutation 'R3956:Or5al1'

310680

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

040833-MU

Accession Numbers

Essential gene?

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

Stock #

R3956 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85989689-85990785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85990282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 144 (V144A)

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: V144A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000097492
Gene: ENSMUSG00000075202
AA Change: V144A

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: V144A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000216028

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.5%

Validation Efficiency

100% (56/56)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,100,805 (GRCm39)	K393E	possibly damaging	Het
Aagab	A	G	9: 63,526,442 (GRCm39)	E155G	probably damaging	Het
Abca16	A	G	7: 120,126,975 (GRCm39)	N1221S	probably damaging	Het
Acad11	A	G	9: 103,963,351 (GRCm39)		probably benign	Het
Acsl1	T	A	8: 46,987,495 (GRCm39)	L693Q	probably damaging	Het
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
B3gat1	A	G	9: 26,668,324 (GRCm39)	T305A	possibly damaging	Het
BC051076	A	G	5: 88,112,110 (GRCm39)		noncoding transcript	Het
Ccni	A	G	5: 93,331,263 (GRCm39)	L236S	probably damaging	Het
Ccnq	C	A	11: 78,641,849 (GRCm39)	E214*	probably null	Het
Cdc45	A	G	16: 18,624,180 (GRCm39)	V119A	probably benign	Het
Clspn	ACGGCGGCGGC	A	4: 126,460,230 (GRCm39)		probably null	Het
Creld1	A	G	6: 113,469,190 (GRCm39)	D340G	possibly damaging	Het
Cyrib	T	C	15: 63,813,823 (GRCm39)	Y158C	probably damaging	Het
Dipk1b	C	T	2: 26,525,579 (GRCm39)	P171L	probably benign	Het
Dnah2	T	A	11: 69,374,847 (GRCm39)	I1417L	probably benign	Het
Efhc1	A	C	1: 21,048,890 (GRCm39)	K434N	probably damaging	Het
Evi5l	T	C	8: 4,241,358 (GRCm39)	V297A	possibly damaging	Het
Fkbp8	T	G	8: 70,987,517 (GRCm39)	S376A	probably damaging	Het
Gfod1	A	T	13: 43,354,538 (GRCm39)	C146S	probably damaging	Het
Greb1	G	T	12: 16,732,300 (GRCm39)	P1554T	probably damaging	Het
Grip1	A	T	10: 119,765,931 (GRCm39)	I88F	probably damaging	Het
Hbq1a	T	C	11: 32,250,214 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2e	A	G	5: 23,701,023 (GRCm39)	T121A	probably benign	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Mfsd2b	A	T	12: 4,916,848 (GRCm39)	F194Y	probably damaging	Het
Mtmr3	A	T	11: 4,441,138 (GRCm39)	V504E	probably damaging	Het
Neb	C	T	2: 52,091,975 (GRCm39)	V5030M	possibly damaging	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Or5ac17	G	A	16: 59,036,428 (GRCm39)	Q183*	probably null	Het
Or5al5	C	T	2: 85,961,363 (GRCm39)	V215I	probably benign	Het
Pmfbp1	A	G	8: 110,256,801 (GRCm39)	S502G	probably benign	Het
Prb1c	G	T	6: 132,338,814 (GRCm39)	Q135K	unknown	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Qng1	A	G	13: 58,532,203 (GRCm39)	S118P	probably damaging	Het
Ralgapa2	C	T	2: 146,277,884 (GRCm39)	V426I	probably damaging	Het
Rasgrf2	A	G	13: 92,130,974 (GRCm39)	S696P	probably damaging	Het
Riok3	T	A	18: 12,276,031 (GRCm39)	Y242*	probably null	Het
Robo2	T	G	16: 73,758,755 (GRCm39)	Y672S	probably damaging	Het
Rsbn1	A	G	3: 103,835,991 (GRCm39)	H343R	probably damaging	Het
Sar1a	A	T	10: 61,522,172 (GRCm39)	N88I	possibly damaging	Het
Sgcz	A	G	8: 37,993,346 (GRCm39)		probably benign	Het
Spmip9	A	G	6: 70,890,469 (GRCm39)	Y108H	possibly damaging	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tlcd5	C	A	9: 43,022,808 (GRCm39)	C182F	probably damaging	Het
Tmem131l	C	A	3: 83,817,726 (GRCm39)	C1257F	probably damaging	Het
Top6bl	T	A	19: 4,742,525 (GRCm39)	T214S	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Umodl1	A	G	17: 31,221,837 (GRCm39)	T1280A	probably benign	Het
Xpnpep3	A	G	15: 81,335,230 (GRCm39)		probably benign	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
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
R6324:Or5al1	UTSW	2	85,989,800 (GRCm39)	missense	probably benign
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'- CAAAGAGTGTTGAAGCCAGC -3'
(R):5'- CTGTCACTCCAAACACTCTGG -3'

Sequencing Primer
(F):5'- TGTTGAAGCCAGCAATGATTAGC -3'
(R):5'- CACTCTGGTGAATTTTCTACGTGAAG -3'

Posted On

2015-04-29