Mutagenetix > Incidental Mutation

Incidental Mutation 'R5306:Olfr814'

404572

Institutional Source

Beutler Lab

Gene Symbol

Olfr814

Ensembl Gene

ENSMUSG00000059134

Gene Name

olfactory receptor 814

Synonyms

MOR113-5, MOR113-8, GA_x6K02T2PULF-11553313-11552381

MMRRC Submission

042889-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129871473-129879851 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 129873941 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 272 (I272R)

Ref Sequence

ENSEMBL: ENSMUSP00000150458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081367] [ENSMUST00000213742] [ENSMUST00000216966]

AlphaFold

Q7TRH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000081367
AA Change: I272R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080106
Gene: ENSMUSG00000059134
AA Change: I272R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	5.2e-47	PFAM
Pfam:7tm_1	39	288	1.5e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213742
AA Change: I272R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216966
AA Change: I272R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (64/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	G	19: 29,729,830		probably benign	Het
Adam29	T	A	8: 55,871,757	D554V	probably damaging	Het
Ankrd44	G	A	1: 54,926,203		probably benign	Het
Api5	A	T	2: 94,423,466	C297*	probably null	Het
Asb14	G	A	14: 26,911,909	C357Y	probably damaging	Het
Brdt	T	A	5: 107,345,144	D112E	probably damaging	Het
Capsl	C	A	15: 9,457,790	Q32K	probably benign	Het
Ccdc106	A	G	7: 5,058,097	D81G	probably damaging	Het
Cep104	C	A	4: 154,006,242	T884K	probably benign	Het
Cmbl	T	C	15: 31,582,069	Y71H	probably damaging	Het
Crybg3	A	T	16: 59,559,993		probably benign	Het
Dynlt1c	T	C	17: 6,601,811	M1T	probably null	Het
Erbb2	T	C	11: 98,428,206	S574P	probably benign	Het
Exosc10	T	C	4: 148,562,392	V153A	probably benign	Het
Faxc	G	T	4: 21,931,557		probably benign	Het
Fcgbp	A	G	7: 28,091,818	T835A	probably damaging	Het
Fmo5	G	T	3: 97,641,760	M241I	probably benign	Het
Gabra1	A	C	11: 42,133,552	I432S	probably benign	Het
Gfap	A	G	11: 102,895,748		probably null	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm12185	T	A	11: 48,915,555	M270L	probably benign	Het
Gm14443	T	C	2: 175,169,579	N358S	possibly damaging	Het
Gm6583	T	C	5: 112,355,044	R265G	probably benign	Het
Gpr3	C	T	4: 133,211,179	V61M	probably damaging	Het
Herc2	C	T	7: 56,184,961	T3229M	probably damaging	Het
Ifit3	A	G	19: 34,587,807	Y251C	probably damaging	Het
Inf2	G	A	12: 112,601,553	V180I	probably benign	Het
Ints11	T	C	4: 155,875,208	Y91H	probably damaging	Het
Ints4	A	C	7: 97,509,678	D419A	probably damaging	Het
Kmt2e	T	C	5: 23,499,333	S1175P	probably damaging	Het
Mki67	A	T	7: 135,714,001	V44E	probably damaging	Het
Mrgprb13	A	T	7: 48,312,192		noncoding transcript	Het
Myh2	T	C	11: 67,186,556	L839P	probably damaging	Het
Nos1ap	T	A	1: 170,349,399	K145M	probably damaging	Het
Olfr723	A	G	14: 49,929,550		probably benign	Het
Pced1a	T	A	2: 130,419,171	H422L	probably benign	Het
Plpp1	G	T	13: 112,851,555		probably null	Het
Plxna4	T	C	6: 32,206,121	Y949C	probably damaging	Het
Polg2	G	A	11: 106,778,970	T158I	probably damaging	Het
Prss38	A	T	11: 59,372,995	I297K	probably benign	Het
Psph	A	G	5: 129,769,367	L98P	probably damaging	Het
Rab11b	G	A	17: 33,760,269		probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,579,929		probably benign	Het
Serpine3	G	A	14: 62,670,933	A137T	probably damaging	Het
Sh3bp4	T	C	1: 89,144,275	F282L	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slco2b1	T	A	7: 99,688,991	Y109F	possibly damaging	Het
Slfn10-ps	T	A	11: 83,035,529		noncoding transcript	Het
Smc5	A	G	19: 23,259,645		probably null	Het
Smyd4	A	G	11: 75,402,158	N638S	probably benign	Het
Stxbp5	T	C	10: 9,799,991	E628G	probably damaging	Het
Tmem236	A	T	2: 14,219,164	K255*	probably null	Het
Ttc29	T	A	8: 78,251,910		probably null	Het
Ttc37	G	A	13: 76,147,767	E1050K	possibly damaging	Het
Tyr	A	G	7: 87,438,014	I430T	probably damaging	Het
Uckl1	A	G	2: 181,574,367		probably null	Het
Vmn2r52	A	C	7: 10,170,745	I389R	possibly damaging	Het
Wdr62	A	T	7: 30,265,263	F352Y	possibly damaging	Het
Wdr70	T	C	15: 7,924,273	D379G	probably benign	Het
Zfp408	T	A	2: 91,646,345	M155L	probably benign	Het
Zfp459	T	A	13: 67,413,130	Q66H	probably damaging	Het
Zfp870	C	A	17: 32,883,653	G234V	probably damaging	Het

Other mutations in Olfr814

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01831:Olfr814	APN	10	129874031	missense	probably damaging	1.00
IGL02045:Olfr814	APN	10	129874222	missense	probably benign	0.22
IGL02301:Olfr814	APN	10	129874079	missense	probably damaging	0.99
R0277:Olfr814	UTSW	10	129874067	missense	probably damaging	0.99
R0281:Olfr814	UTSW	10	129874546	missense	possibly damaging	0.88
R0323:Olfr814	UTSW	10	129874067	missense	probably damaging	0.99
R0394:Olfr814	UTSW	10	129873942	missense	probably benign	0.29
R0546:Olfr814	UTSW	10	129874538	missense	possibly damaging	0.94
R3813:Olfr814	UTSW	10	129873986	missense	probably damaging	1.00
R4086:Olfr814	UTSW	10	129874298	missense	possibly damaging	0.49
R4415:Olfr814	UTSW	10	129873957	missense	probably benign	0.00
R4416:Olfr814	UTSW	10	129873957	missense	probably benign	0.00
R4453:Olfr814	UTSW	10	129874661	missense	probably null	0.30
R5194:Olfr814	UTSW	10	129874098	missense	probably benign	0.00
R5362:Olfr814	UTSW	10	129874553	missense	probably damaging	1.00
R5609:Olfr814	UTSW	10	129874738	missense	probably benign	0.01
R5987:Olfr814	UTSW	10	129874521	missense	probably damaging	0.98
R6240:Olfr814	UTSW	10	129874677	missense	probably benign
R6896:Olfr814	UTSW	10	129874754	start codon destroyed	probably null	0.98
R7432:Olfr814	UTSW	10	129873850	missense	probably benign
R7489:Olfr814	UTSW	10	129874682	missense	probably damaging	1.00
R7652:Olfr814	UTSW	10	129874477	missense	probably damaging	0.99
R8316:Olfr814	UTSW	10	129874022	missense	probably damaging	1.00
R8725:Olfr814	UTSW	10	129874223	missense	probably damaging	1.00
R8727:Olfr814	UTSW	10	129874223	missense	probably damaging	1.00
R9089:Olfr814	UTSW	10	129874619	missense	probably damaging	1.00
R9538:Olfr814	UTSW	10	129873893	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGATTTCCTGGAGTACTTTTAGCCTG -3'
(R):5'- GATGGCTTTCATCTTAGCTCTCATG -3'

Sequencing Primer
(F):5'- GGAGTACTTTTAGCCTGTTTAATACC -3'
(R):5'- ATCTTAGCTCTCATGACACTCATTG -3'

Posted On

2016-07-22