Mutagenetix > Incidental Mutation

Incidental Mutation 'R8226:Or5v1'

637013

Institutional Source

Beutler Lab

Gene Symbol

Or5v1

Ensembl Gene

ENSMUSG00000090894

Gene Name

olfactory receptor family 5 subfamily V member 1

Synonyms

GA_x6K02T2PSCP-1956307-1957260, Olfr110, MOR249-2

MMRRC Submission

067643-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R8226 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37803359-37811098 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37809560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 6 (Q6L)

Ref Sequence

ENSEMBL: ENSMUSP00000131089 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168318]

AlphaFold

A2RT31

Predicted Effect

probably benign
Transcript: ENSMUST00000168318
AA Change: Q6L

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131089
Gene: ENSMUSG00000090894
AA Change: Q6L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	8.9e-54	PFAM
Pfam:7TM_GPCR_Srsx	35	286	1.9e-6	PFAM
Pfam:7tm_1	41	290	1.2e-26	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.7%

Validation Efficiency

100% (54/54)

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
9330159F19Rik	A	G	10: 29,094,195 (GRCm39)	N27S	probably damaging	Het
Abcb1b	T	A	5: 8,871,390 (GRCm39)	Y315N	probably damaging	Het
Acy1	A	G	9: 106,314,857 (GRCm39)	I22T	probably damaging	Het
Akap11	G	A	14: 78,748,649 (GRCm39)	T1246M		Het
Akr1b1	G	C	6: 34,288,867 (GRCm39)	T114R	probably damaging	Het
Apob	G	A	12: 8,059,056 (GRCm39)	V2513I	probably benign	Het
Arhgap21	C	T	2: 20,876,556 (GRCm39)	D820N	probably damaging	Het
Arl2	A	T	19: 6,187,506 (GRCm39)		probably null	Het
Bmp5	C	T	9: 75,683,606 (GRCm39)	P78S	probably damaging	Het
Cic	T	C	7: 24,987,213 (GRCm39)	C1374R	probably damaging	Het
Dennd5b	T	C	6: 148,915,746 (GRCm39)		probably null	Het
Dhx36	A	G	3: 62,377,991 (GRCm39)	Y1000H	probably benign	Het
Dnah14	A	G	1: 181,623,110 (GRCm39)	E3996G	possibly damaging	Het
Efcab6	T	C	15: 83,788,456 (GRCm39)	Y946C	probably benign	Het
Egfem1	A	G	3: 29,711,404 (GRCm39)	K328E	probably damaging	Het
F5	T	C	1: 164,021,959 (GRCm39)	V1478A	probably benign	Het
Fchsd2	C	T	7: 100,931,679 (GRCm39)	P745L	probably damaging	Het
Grb10	G	T	11: 11,901,533 (GRCm39)	L214M	probably damaging	Het
H6pd	A	G	4: 150,080,446 (GRCm39)	V133A	probably benign	Het
Irak4	T	A	15: 94,456,244 (GRCm39)	L277Q	probably damaging	Het
Krt78	A	T	15: 101,855,480 (GRCm39)	M777K	possibly damaging	Het
Lrch4	A	G	5: 137,637,997 (GRCm39)	H93R		Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mga	A	G	2: 119,790,866 (GRCm39)	I2251V	probably benign	Het
Mtx3	A	G	13: 92,984,215 (GRCm39)	E164G	possibly damaging	Het
Muc21	T	C	17: 35,930,599 (GRCm39)		probably benign	Het
Nbeal1	A	T	1: 60,316,336 (GRCm39)	K1846N	probably damaging	Het
Nedd1	T	A	10: 92,527,797 (GRCm39)	M466L	probably benign	Het
Nr4a3	A	T	4: 48,056,588 (GRCm39)	K380M	probably damaging	Het
Nup107	T	C	10: 117,593,836 (GRCm39)	K786E	probably benign	Het
Or51f23b	T	C	7: 102,402,950 (GRCm39)	Y62C	probably benign	Het
Or5ak25	T	A	2: 85,268,981 (GRCm39)	I174F	probably damaging	Het
Or5m12	T	C	2: 85,734,547 (GRCm39)	I284V	probably benign	Het
Pira13	A	C	7: 3,828,109 (GRCm39)	L66R		Het
Pkhd1l1	A	G	15: 44,437,803 (GRCm39)	N3533D	possibly damaging	Het
Plpp1	A	T	13: 113,003,465 (GRCm39)	T230S	probably benign	Het
Plxnc1	A	C	10: 94,669,230 (GRCm39)	D1063E	possibly damaging	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Prokr2	C	A	2: 132,215,961 (GRCm39)	A167S	probably damaging	Het
Qser1	C	T	2: 104,619,070 (GRCm39)	A491T	probably benign	Het
Rc3h2	T	A	2: 37,267,001 (GRCm39)	Y1040F	possibly damaging	Het
Rgl2	C	T	17: 34,151,501 (GRCm39)	L182F	possibly damaging	Het
Rnf130	T	C	11: 49,962,097 (GRCm39)	V181A	probably benign	Het
Scd4	A	G	19: 44,322,572 (GRCm39)	D55G	probably benign	Het
Scn7a	T	G	2: 66,531,204 (GRCm39)	I558L	possibly damaging	Het
Serpinb7	G	A	1: 107,375,980 (GRCm39)		probably null	Het
Shtn1	T	C	19: 58,992,328 (GRCm39)	I417V	possibly damaging	Het
Svs3b	T	A	2: 164,098,140 (GRCm39)	E60D	possibly damaging	Het
Tex14	T	C	11: 87,375,585 (GRCm39)	I116T	probably damaging	Het
Trak1	C	T	9: 121,280,793 (GRCm39)	T394I	probably benign	Het
Trhde	C	T	10: 114,403,133 (GRCm39)	V497M	probably damaging	Het
Trpc2	A	G	7: 101,737,482 (GRCm39)	M425V	possibly damaging	Het
Trpm2	C	T	10: 77,783,807 (GRCm39)	R222Q	probably damaging	Het
Tuba1b	C	T	15: 98,829,591 (GRCm39)	G410S	probably benign	Het
Usp28	T	G	9: 48,926,697 (GRCm39)		probably null	Het
Vps13d	T	C	4: 144,875,860 (GRCm39)	Y1555C		Het
Wdr17	T	A	8: 55,146,155 (GRCm39)	N106Y	possibly damaging	Het

Other mutations in Or5v1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01954:Or5v1	APN	17	37,809,540 (GRCm39)	utr 5 prime	probably benign
IGL03088:Or5v1	APN	17	37,809,539 (GRCm39)	utr 5 prime	probably benign
F5426:Or5v1	UTSW	17	37,810,427 (GRCm39)	missense	probably damaging	1.00
R1664:Or5v1	UTSW	17	37,810,316 (GRCm39)	missense	possibly damaging	0.83
R2883:Or5v1	UTSW	17	37,810,271 (GRCm39)	missense	probably damaging	1.00
R4011:Or5v1	UTSW	17	37,810,382 (GRCm39)	missense	possibly damaging	0.79
R4365:Or5v1	UTSW	17	37,810,270 (GRCm39)	missense	probably damaging	1.00
R4989:Or5v1	UTSW	17	37,810,017 (GRCm39)	missense	probably benign	0.10
R5442:Or5v1	UTSW	17	37,810,330 (GRCm39)	missense	probably damaging	1.00
R5577:Or5v1	UTSW	17	37,810,493 (GRCm39)	missense	probably benign	0.02
R6592:Or5v1	UTSW	17	37,809,988 (GRCm39)	missense	probably damaging	1.00
R7134:Or5v1	UTSW	17	37,809,776 (GRCm39)	missense	probably damaging	1.00
R7840:Or5v1	UTSW	17	37,809,868 (GRCm39)	missense	probably damaging	1.00
R8304:Or5v1	UTSW	17	37,810,261 (GRCm39)	missense	probably damaging	1.00
R8310:Or5v1	UTSW	17	37,810,148 (GRCm39)	missense	probably benign	0.00
R8435:Or5v1	UTSW	17	37,809,676 (GRCm39)	missense	probably benign	0.01
R8779:Or5v1	UTSW	17	37,809,718 (GRCm39)	missense	probably damaging	1.00
R8852:Or5v1	UTSW	17	37,810,321 (GRCm39)	missense	probably benign	0.28
R8928:Or5v1	UTSW	17	37,809,583 (GRCm39)	missense	probably damaging	0.99
R8964:Or5v1	UTSW	17	37,809,664 (GRCm39)	missense	probably damaging	1.00
R9605:Or5v1	UTSW	17	37,810,331 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTTGATTCCTGGGAGCAAC -3'
(R):5'- CCTAGGAAATAATACATGGGTGTGTG -3'

Sequencing Primer
(F):5'- CTTGATTCCTGGGAGCAACAATGAG -3'
(R):5'- AAATAATACATGGGTGTGTGTAGGTG -3'

Posted On

2020-07-13