Mutagenetix > Incidental Mutation

Incidental Mutation 'R2176:Olfr512'

236879

Institutional Source

Beutler Lab

Gene Symbol

Olfr512

Ensembl Gene

ENSMUSG00000056946

Gene Name

olfactory receptor 512

Synonyms

MOR268-3, GA_x6K02T2PBJ9-11043421-11044365

MMRRC Submission

040178-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R2176 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108713320-108714375 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108714132 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 248 (V248I)

Ref Sequence

ENSEMBL: ENSMUSP00000147972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074730] [ENSMUST00000209620]

AlphaFold

Q8VFZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000074730
AA Change: V260I

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

SMART Domains

Protein: ENSMUSP00000074291
Gene: ENSMUSG00000056946
AA Change: V260I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	43	320	7.8e-62	PFAM
Pfam:7TM_GPCR_Srsx	47	317	2.5e-6	PFAM
Pfam:7tm_1	53	302	2.3e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209620
AA Change: V248I

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,259,367		probably benign	Het
Adam1a	T	A	5: 121,519,586	Y548F	probably benign	Het
Armc9	T	C	1: 86,199,892	L83P	probably damaging	Het
BC051665	A	T	13: 60,784,530		probably benign	Het
Casp3	A	G	8: 46,629,756	N3S	probably damaging	Het
Ccdc174	G	A	6: 91,888,089	M109I	probably benign	Het
Ccr6	T	A	17: 8,256,241	F93I	probably damaging	Het
Clvs2	T	C	10: 33,595,815	S165G	probably damaging	Het
Cntnap5c	T	C	17: 58,013,946	V171A	probably benign	Het
Dennd5a	C	A	7: 109,905,120		probably null	Het
Dock2	T	A	11: 34,695,217	Y546F	probably benign	Het
Fat2	A	G	11: 55,267,575		probably null	Het
Focad	T	A	4: 88,279,244	Y625N	unknown	Het
Fyb	A	G	15: 6,579,954	K3E	probably damaging	Het
Gm14496	G	A	2: 181,991,337	D38N	probably benign	Het
Gm20403	T	C	12: 54,986,370	T54A	probably benign	Het
Gm9830	A	G	9: 44,464,259		noncoding transcript	Het
Hectd1	A	T	12: 51,745,494	S2487R	probably damaging	Het
Il5ra	A	G	6: 106,738,272	L175S	probably benign	Het
Itgav	C	T	2: 83,803,255	R983C	probably damaging	Het
Kcna10	T	C	3: 107,194,716	V221A	probably damaging	Het
Kif13b	G	A	14: 64,669,671	V35I	probably benign	Het
Kif6	G	A	17: 49,755,230	E473K	probably damaging	Het
Mfsd14a	T	C	3: 116,632,393	T452A	probably benign	Het
Mllt1	A	G	17: 56,897,398	S382P	probably benign	Het
Myo15b	T	C	11: 115,866,572	W1083R	probably damaging	Het
Nell2	T	C	15: 95,435,157	I174V	probably damaging	Het
Noct	G	A	3: 51,249,696		probably null	Het
Nvl	A	T	1: 181,135,074		probably benign	Het
Ofcc1	T	C	13: 40,097,119	S574G	probably benign	Het
Olfr1248	A	T	2: 89,617,580	M204K	possibly damaging	Het
Olfr749	T	C	14: 50,736,224	M313V	probably benign	Het
Pip5k1a	A	T	3: 95,065,496	S415T	probably damaging	Het
Pkhd1	G	A	1: 20,553,517	P785S	probably damaging	Het
Plcg2	A	G	8: 117,612,994	Y1048C	probably damaging	Het
Ppp3cb	A	T	14: 20,520,652	V337E	probably benign	Het
Prkg2	T	C	5: 98,966,509		probably benign	Het
Prl7a2	T	G	13: 27,659,106	Y238S	probably benign	Het
Psg28	T	A	7: 18,427,879	D233V	probably damaging	Het
Rad50	A	G	11: 53,698,209	C221R	probably benign	Het
Rgl3	A	G	9: 21,975,958		probably benign	Het
Rgsl1	T	A	1: 153,825,268		probably benign	Het
Ror1	C	A	4: 100,441,874	R815S	probably damaging	Het
Rrp1b	C	A	17: 32,056,560	D360E	probably benign	Het
Ryr3	T	C	2: 112,666,335	Q3682R	possibly damaging	Het
Sdr42e1	A	T	8: 117,662,877	F342I	possibly damaging	Het
Setd5	A	G	6: 113,151,153	R1337G	probably benign	Het
Siglecf	T	C	7: 43,351,716	V36A	probably damaging	Het
Slc4a5	G	A	6: 83,262,560	G152D	probably damaging	Het
Sptbn4	T	G	7: 27,364,162	M2280L	probably benign	Het
Syngr2	T	C	11: 117,812,580	I74T	probably damaging	Het
Tm9sf1	T	C	14: 55,641,409	I175M	possibly damaging	Het
Tmc3	A	G	7: 83,609,308	E502G	probably damaging	Het
Tph1	T	A	7: 46,662,039	D88V	possibly damaging	Het
Tpr	A	G	1: 150,419,940	K979E	possibly damaging	Het
Usp47	A	G	7: 112,092,727	T799A	probably benign	Het
Utf1	A	G	7: 139,944,007	E45G	possibly damaging	Het
Vmn1r208	A	T	13: 22,772,602	C242S	probably damaging	Het
Wrnip1	T	C	13: 32,820,240	I498T	probably damaging	Het
Ypel2	T	A	11: 86,971,873	H18L	probably benign	Het
Zan	T	G	5: 137,421,848	D2849A	unknown	Het
Zfp647	A	T	15: 76,911,660	F267I	probably damaging	Het
Zfp786	G	T	6: 47,820,971	H344Q	possibly damaging	Het
Zswim3	G	T	2: 164,820,694	A365S	probably benign	Het
Zswim5	T	C	4: 116,973,041	W538R	probably damaging	Het

Other mutations in Olfr512

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01889:Olfr512	APN	7	108713882	missense	probably benign	0.02
IGL01912:Olfr512	APN	7	108714258	missense	possibly damaging	0.60
IGL02182:Olfr512	APN	7	108713868	missense	probably benign	0.02
IGL02409:Olfr512	APN	7	108714159	missense	probably benign	0.00
IGL02554:Olfr512	APN	7	108713742	missense	possibly damaging	0.94
IGL03210:Olfr512	APN	7	108713568	missense	probably damaging	1.00
IGL03373:Olfr512	APN	7	108714132	missense	probably damaging	1.00
IGL03400:Olfr512	APN	7	108713526	missense	probably benign	0.28
R0092:Olfr512	UTSW	7	108713824	missense	probably benign
R0741:Olfr512	UTSW	7	108713604	missense	probably benign	0.00
R1515:Olfr512	UTSW	7	108713941	missense	possibly damaging	0.94
R1982:Olfr512	UTSW	7	108713695	missense	probably damaging	1.00
R3967:Olfr512	UTSW	7	108713853	missense	probably benign
R4009:Olfr512	UTSW	7	108714159	missense	probably benign	0.00
R4010:Olfr512	UTSW	7	108714159	missense	probably benign	0.00
R4011:Olfr512	UTSW	7	108714159	missense	probably benign	0.00
R5095:Olfr512	UTSW	7	108713812	missense	probably damaging	1.00
R5271:Olfr512	UTSW	7	108714217	missense	probably damaging	1.00
R5864:Olfr512	UTSW	7	108713464	missense	probably benign
R5926:Olfr512	UTSW	7	108713587	missense	probably damaging	1.00
R6295:Olfr512	UTSW	7	108713638	missense	probably damaging	0.98
R6528:Olfr512	UTSW	7	108713431	missense	probably damaging	1.00
R6624:Olfr512	UTSW	7	108713536	missense	possibly damaging	0.50
R8029:Olfr512	UTSW	7	108713830	missense	possibly damaging	0.70
R8443:Olfr512	UTSW	7	108714211	missense	possibly damaging	0.79
R8737:Olfr512	UTSW	7	108713757	missense	probably damaging	1.00
R9415:Olfr512	UTSW	7	108713835	missense	probably damaging	1.00
R9622:Olfr512	UTSW	7	108713470	missense	probably benign	0.30
X0023:Olfr512	UTSW	7	108714010	missense	possibly damaging	0.79
Z1088:Olfr512	UTSW	7	108713538	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ACTCCTCCTGTGCTAGAACTGG -3'
(R):5'- CAAGCTGTGTGAAAAGCCAC -3'

Sequencing Primer
(F):5'- TGCTAGAACTGGCATGTGCAG -3'
(R):5'- TTTCTTTGCCATAATTTCAACACAGC -3'

Posted On

2014-10-02