Mutagenetix > Incidental Mutation

Incidental Mutation 'R4814:Olfr830'

369644

Institutional Source

Beutler Lab

Gene Symbol

Olfr830

Ensembl Gene

ENSMUSG00000062868

Gene Name

olfactory receptor 830

Synonyms

GA_x6K02T2PVTD-12618399-12619337, MOR152-1

MMRRC Submission

042432-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R4814 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18874693-18878369 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18875917 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 197 (I197V)

Ref Sequence

ENSEMBL: ENSMUSP00000077903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078861] [ENSMUST00000212723]

AlphaFold

Q8VFJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000078861
AA Change: I197V

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000077903
Gene: ENSMUSG00000062868
AA Change: I197V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	1.8e-51	PFAM
Pfam:7tm_1	44	293	1.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212723
AA Change: I194V

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.1308

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (79/79)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	G	16: 56,650,753	V587G	probably benign	Het
Abtb2	A	G	2: 103,717,287	D1002G	probably benign	Het
Acap2	A	G	16: 31,108,126	S524P	probably benign	Het
Acsm1	A	T	7: 119,655,464	I385L	probably benign	Het
Adra1a	C	G	14: 66,638,032	A152G	probably benign	Het
Agbl4	A	T	4: 111,656,368	Y437F	possibly damaging	Het
Amt	A	G	9: 108,299,780	T196A	probably benign	Het
Apobr	G	A	7: 126,586,687	V457M	probably benign	Het
Birc6	A	G	17: 74,649,672	K3563E	probably damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,568,991		probably null	Het
Chrna9	T	C	5: 65,977,149	W448R	probably damaging	Het
Cyp4a31	A	T	4: 115,570,269	D224V	probably damaging	Het
Ddx10	C	A	9: 53,204,105	R643L	possibly damaging	Het
Dip2c	A	G	13: 9,536,860	H200R	probably benign	Het
Dnah8	A	T	17: 30,767,924	R3182S	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Egfr	T	C	11: 16,869,354	C295R	probably damaging	Het
Garem1	A	T	18: 21,148,116	N394K	probably damaging	Het
Gcat	T	C	15: 79,031,122		probably null	Het
Gckr	C	T	5: 31,298,300	Q66*	probably null	Het
Gm26996	A	T	6: 130,579,354		noncoding transcript	Het
Gm9386	C	A	17: 80,938,712		noncoding transcript	Het
Gpr6	A	T	10: 41,071,262	M108K	possibly damaging	Het
H2-Q10	A	C	17: 35,473,584		probably benign	Het
Hpf1	A	G	8: 60,893,807	D52G	probably damaging	Het
Jak2	A	G	19: 29,301,977	R989G	probably damaging	Het
Kat7	A	G	11: 95,303,123		probably benign	Het
Kcnn3	G	T	3: 89,662,724	V615F	probably damaging	Het
Lgi1	G	T	19: 38,300,878		probably null	Het
Lrrtm4	A	T	6: 80,023,134	T510S	possibly damaging	Het
Map7d1	A	G	4: 126,234,321		probably null	Het
Mapt	T	C	11: 104,298,960	V252A	probably benign	Het
Mbd4	A	T	6: 115,849,299	S223T	possibly damaging	Het
Meig1	T	A	2: 3,411,922	I21L	probably benign	Het
Mia3	A	G	1: 183,332,830	Y447H	probably damaging	Het
Mrpl46	A	C	7: 78,780,595	N142K	probably benign	Het
Myo18a	C	A	11: 77,859,236		probably benign	Het
Nup188	A	G	2: 30,326,511	T776A	possibly damaging	Het
Oas1h	C	A	5: 120,862,665	H113N	probably damaging	Het
Olfr1505	A	T	19: 13,919,453	L144F	possibly damaging	Het
Olfr771	T	A	10: 129,160,376	T203S	possibly damaging	Het
Olfr845	C	T	9: 19,339,180	T240M	probably damaging	Het
Orc3	T	A	4: 34,572,450		probably benign	Het
Osbpl3	T	A	6: 50,353,000	L65F	probably damaging	Het
Papola	C	A	12: 105,799,653	P4Q	probably damaging	Het
Pepd	A	G	7: 34,945,597	N151S	probably damaging	Het
Plekhm2	A	G	4: 141,627,839	L959P	probably benign	Het
Prpf40a	A	T	2: 53,190,020	H82Q	probably damaging	Het
Robo1	C	T	16: 72,972,035	T496M	probably benign	Het
Samd9l	T	G	6: 3,372,863	Q1466P	probably damaging	Het
Serpina1a	T	C	12: 103,854,763	T342A	probably benign	Het
Serpina3i	A	G	12: 104,265,211	T36A	probably benign	Het
Serpinb5	G	T	1: 106,872,339	L86F	probably damaging	Het
Slc35g1	A	G	19: 38,402,827	S186G	possibly damaging	Het
Slco6d1	T	A	1: 98,423,174	D126E	probably benign	Het
Smchd1	A	G	17: 71,411,768		probably null	Het
Smpdl3a	C	A	10: 57,811,241	T355K	probably damaging	Het
Sntg2	A	G	12: 30,373,268		probably benign	Het
Sox14	T	A	9: 99,875,231	M152L	probably benign	Het
Spats2l	G	T	1: 57,937,926	A308S	possibly damaging	Het
Tcf12	T	C	9: 71,870,041		probably benign	Het
Tcf7l2	T	A	19: 55,924,072	C478*	probably null	Het
Tekt5	A	G	16: 10,382,907	L250P	probably damaging	Het
Tmem132d	T	G	5: 127,984,264	I425L	probably benign	Het
Tmem174	T	A	13: 98,636,948	I125F	probably damaging	Het
Trafd1	T	G	5: 121,374,016	I404L	probably benign	Het
Trpm5	G	A	7: 143,082,636	P500S	possibly damaging	Het
Trpm6	T	A	19: 18,862,212	N1616K	probably benign	Het
Vmn1r4	A	G	6: 56,956,730	D73G	possibly damaging	Het
Vmn2r85	T	A	10: 130,418,698	I706F	probably benign	Het
Zc3h14	C	G	12: 98,752,848	D157E	probably damaging	Het
Zfp982	A	G	4: 147,512,633	Q149R	possibly damaging	Het

Other mutations in Olfr830

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00932:Olfr830	APN	9	18876014	nonsense	probably null
IGL00954:Olfr830	APN	9	18876073	missense	probably benign	0.15
IGL01090:Olfr830	APN	9	18876242	missense	probably benign	0.00
IGL01613:Olfr830	APN	9	18875321	splice site	probably benign
IGL01987:Olfr830	APN	9	18875707	missense	probably benign	0.00
IGL03018:Olfr830	APN	9	18876227	missense	probably benign	0.15
IGL03037:Olfr830	APN	9	18875372	missense	probably damaging	0.98
R0284:Olfr830	UTSW	9	18875552	missense	probably benign
R1322:Olfr830	UTSW	9	18875521	missense	possibly damaging	0.90
R1715:Olfr830	UTSW	9	18875794	missense	probably benign	0.06
R1803:Olfr830	UTSW	9	18876080	missense	probably damaging	1.00
R4360:Olfr830	UTSW	9	18875717	missense	probably damaging	1.00
R4394:Olfr830	UTSW	9	18875611	missense	probably damaging	0.98
R4642:Olfr830	UTSW	9	18876167	missense	probably damaging	1.00
R4796:Olfr830	UTSW	9	18876179	missense	probably damaging	0.96
R5210:Olfr830	UTSW	9	18875807	missense	probably damaging	1.00
R5375:Olfr830	UTSW	9	18876146	missense	probably benign	0.08
R6072:Olfr830	UTSW	9	18875422	missense	probably benign
R6361:Olfr830	UTSW	9	18875731	missense	probably damaging	1.00
R6602:Olfr830	UTSW	9	18875849	missense	possibly damaging	0.81
R6920:Olfr830	UTSW	9	18875525	missense	probably damaging	1.00
R7730:Olfr830	UTSW	9	18875413	missense	probably benign	0.00
R7780:Olfr830	UTSW	9	18875614	missense	possibly damaging	0.65
R8245:Olfr830	UTSW	9	18875830	missense	probably benign
R8274:Olfr830	UTSW	9	18875499	missense	probably benign	0.36
R8920:Olfr830	UTSW	9	18876098	missense	probably damaging	1.00
R9564:Olfr830	UTSW	9	18875344	missense	probably benign	0.00
X0026:Olfr830	UTSW	9	18875635	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACCCCAGTTTCTGTGTTATTCTG -3'
(R):5'- AAGCCACAGCAATCTTCTTTGG -3'

Sequencing Primer
(F):5'- TGTGTTATTCTGGTTCTTTTCTCTC -3'
(R):5'- TGAGGTAATGTATACACCAAACCCTG -3'

Posted On

2016-02-04