Mutagenetix > Incidental Mutations

Incidental Mutation 'R4416:Olfr814'

326848

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

041137-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R4416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129871473-129879851 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129873957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 267 (T267A)

Ref Sequence

ENSEMBL: ENSMUSP00000150458 (fasta)

Gene Model

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

AlphaFold

Q7TRH4

Predicted Effect

probably benign
Transcript: ENSMUST00000081367
AA Change: T267A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000080106
Gene: ENSMUSG00000059134
AA Change: T267A

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 benign
Transcript: ENSMUST00000213742
AA Change: T267A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000216966
AA Change: T267A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
4933412E24Rik	T	A	15: 60,016,423	E56V	possibly damaging	Het
Adam28	A	G	14: 68,622,082		probably null	Het
Bnc1	G	T	7: 81,968,960	H786N	probably benign	Het
Cav1	T	A	6: 17,339,249	M100K	probably benign	Het
Cdk9	A	G	2: 32,708,072	L273P	probably damaging	Het
Celsr1	A	G	15: 85,927,999	V2065A	probably damaging	Het
Cyp2c54	T	C	19: 40,038,259	Q484R	probably benign	Het
Elfn1	T	C	5: 139,972,194	S318P	possibly damaging	Het
Fam160b1	G	T	19: 57,385,397		probably null	Het
Fbxl6	T	C	15: 76,537,724	E205G	possibly damaging	Het
Frmd6	T	A	12: 70,877,249	Y94N	probably benign	Het
Gdpd1	A	T	11: 87,035,288	V277D	probably benign	Het
Gm1141	G	A	X: 71,939,619	C399Y	possibly damaging	Het
Grik1	C	A	16: 88,051,461	V140L	probably benign	Het
Grpel1	A	G	5: 36,471,272	H175R	probably damaging	Het
Gtdc1	G	T	2: 44,575,590		probably null	Het
Hivep2	A	T	10: 14,129,170	Q504L	probably benign	Het
Icos	A	T	1: 60,994,690	I160L	probably benign	Het
Igsf9b	G	T	9: 27,322,917	C442F	probably damaging	Het
Itga10	T	C	3: 96,658,246	V1062A	possibly damaging	Het
Lrp1b	C	T	2: 40,663,667	V386I	unknown	Het
Lrp2	G	T	2: 69,527,231	F409L	probably benign	Het
Nadk	T	G	4: 155,587,726	Y291*	probably null	Het
Nudt6	A	T	3: 37,405,229		probably null	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr694	G	A	7: 106,689,011	T240I	probably benign	Het
Olfr974	A	G	9: 39,942,428	H56R	probably damaging	Het
Pds5b	C	T	5: 150,736,396	P275S	probably damaging	Het
Pdzd7	T	A	19: 45,040,580	E117V	probably damaging	Het
Pik3ca	T	C	3: 32,461,530	V784A	probably damaging	Het
Polr3e	T	C	7: 120,939,057		probably null	Het
Rab3gap2	A	T	1: 185,282,347	D1231V	probably benign	Het
Rapgef2	C	A	3: 79,069,057	G1481*	probably null	Het
Rho	G	A	6: 115,935,230	V76I	probably benign	Het
Rrm1	A	G	7: 102,447,801	D96G	probably benign	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Srp9	A	T	1: 182,131,411	M50L	probably benign	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Sult1d1	A	G	5: 87,558,576	F169S	probably damaging	Het
Tmem63c	C	G	12: 87,081,902	T567R	probably benign	Het
Tmf1	G	T	6: 97,178,988	F12L	probably damaging	Het
Ush2a	T	C	1: 188,356,874	I342T	probably damaging	Het
Veph1	A	T	3: 66,061,185	N712K	probably damaging	Het
Vti1a	T	G	19: 55,380,948	S91A	probably benign	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
R4453:Olfr814	UTSW	10	129874661	missense	probably null	0.30
R5194:Olfr814	UTSW	10	129874098	missense	probably benign	0.00
R5306:Olfr814	UTSW	10	129873941	missense	probably damaging	0.97
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

Predicted Primers

PCR Primer
(F):5'- GATTTCCTGGAGTACTTTTAGCCTG -3'
(R):5'- ATCTTAGCTCTCATGACACTCATTG -3'

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

Posted On

2015-07-07