Mutagenetix > Incidental Mutations

Incidental Mutation 'R5377:Olfr1230'

425599

Institutional Source

Beutler Lab

Gene Symbol

Olfr1230

Ensembl Gene

ENSMUSG00000075094

Gene Name

olfactory receptor 1230

Synonyms

GA_x6K02T2Q125-50741934-50741017, MOR237-1

MMRRC Submission

042845-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R5377 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89296351-89297268 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89297162 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 36 (T36K)

Ref Sequence

ENSEMBL: ENSMUSP00000097375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099787] [ENSMUST00000216144]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099787
AA Change: T36K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097375
Gene: ENSMUSG00000075094
AA Change: T36K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	5.7e-44	PFAM
Pfam:7tm_1	39	285	6.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216144

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,645,253	V372F	probably benign	Het
Adcy10	G	A	1: 165,519,895	C393Y	probably damaging	Het
Adgrg7	A	C	16: 56,730,306	I681S	possibly damaging	Het
Akap8l	T	C	17: 32,321,511		probably benign	Het
Akr1a1	A	T	4: 116,639,895	V156E	probably damaging	Het
Alk	T	G	17: 71,895,739	D1167A	probably damaging	Het
Ankrd11	T	C	8: 122,893,714		probably null	Het
Aspm	T	A	1: 139,457,483	N288K	probably damaging	Het
Aspm	A	G	1: 139,470,395		probably null	Het
Asxl2	G	A	12: 3,474,618		probably null	Het
Atp6v0a1	A	G	11: 101,055,587	H802R	probably damaging	Het
B4galnt1	A	G	10: 127,171,822	T531A	possibly damaging	Het
Ccdc114	C	T	7: 45,942,082	R257*	probably null	Het
Cecr2	A	G	6: 120,756,569	N506D	possibly damaging	Het
Crebrf	T	C	17: 26,759,865	V509A	probably damaging	Het
Cyp4f40	A	T	17: 32,675,616	I413F	probably null	Het
Defb12	C	A	8: 19,114,326		probably null	Het
Dnah2	T	C	11: 69,421,848	E4297G	probably damaging	Het
Dpysl5	A	T	5: 30,791,513	N371Y	probably damaging	Het
Eef1d	G	T	15: 75,903,189	T207N	probably benign	Het
Esrrb	C	T	12: 86,519,009	Q416*	probably null	Het
Exd2	T	C	12: 80,489,448	L284P	probably damaging	Het
Fat3	T	A	9: 16,376,443	I595F	probably benign	Het
Gm9920	A	G	15: 55,108,975		probably benign	Het
Hephl1	T	C	9: 15,069,788	K783E	probably damaging	Het
Irs2	A	G	8: 11,005,277	S1052P	probably benign	Het
Kctd18	T	C	1: 57,963,093	I192V	probably benign	Het
Lama3	A	G	18: 12,453,746	D722G	probably damaging	Het
Lepr	T	C	4: 101,815,019	V1080A	possibly damaging	Het
Lpin1	C	T	12: 16,563,655	G504S	probably damaging	Het
Lrit2	A	C	14: 37,069,183	Q273P	possibly damaging	Het
Mgea5	A	T	19: 45,758,022	Y779*	probably null	Het
Mlkl	T	A	8: 111,327,937	E189D	probably benign	Het
Mttp	C	T	3: 138,105,029	R608H	probably benign	Het
Nav2	T	C	7: 49,589,160	V2011A	probably benign	Het
Nos2	A	T	11: 78,957,491	I1075F	probably benign	Het
Npat	A	G	9: 53,550,036		probably null	Het
Nucks1	T	C	1: 131,919,033	F16L	probably damaging	Het
Nus1	T	C	10: 52,429,213	S150P	possibly damaging	Het
Olfr881	A	T	9: 37,992,612	Y40F	probably benign	Het
Pclo	A	G	5: 14,681,353	T3290A	unknown	Het
Pign	A	T	1: 105,657,812	F4Y	probably benign	Het
Rfx4	A	G	10: 84,860,542	N233D	possibly damaging	Het
Rpgrip1	A	T	14: 52,160,195	M1325L	possibly damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Scaf11	T	A	15: 96,417,120	H1227L	possibly damaging	Het
Sec31b	G	T	19: 44,518,637	P840T	probably damaging	Het
Slc16a9	T	A	10: 70,283,128	L426I	probably damaging	Het
Slc17a2	T	C	13: 23,812,592	S27P	probably damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Tacc1	A	G	8: 25,182,283	S310P	possibly damaging	Het
Tmem245	G	A	4: 56,947,084	R110C	probably damaging	Het
Trip12	T	C	1: 84,757,431	Y953C	probably damaging	Het
Trpm7	C	A	2: 126,842,855		probably null	Het
Ush2a	G	A	1: 188,912,123	V4561I	probably benign	Het
Vmn1r192	C	T	13: 22,187,631	V140I	probably benign	Het
Vmn2r66	A	T	7: 85,006,818	I330N	probably damaging	Het
Vmn2r99	T	C	17: 19,379,269	V405A	probably damaging	Het
Wdhd1	A	C	14: 47,272,221	V172G	probably benign	Het
Zfhx3	C	T	8: 108,951,185	R2956C	possibly damaging	Het
Zfp446	T	C	7: 12,982,251	L283P	possibly damaging	Het
Zfp82	T	C	7: 30,057,166	K164E	probably damaging	Het

Other mutations in Olfr1230

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Olfr1230	APN	2	89296455	missense	probably benign	0.40
IGL01419:Olfr1230	APN	2	89296345	unclassified	probably benign
IGL01644:Olfr1230	APN	2	89296632	missense	probably benign	0.01
IGL01653:Olfr1230	APN	2	89297127	missense	probably benign	0.08
IGL01674:Olfr1230	APN	2	89296670	missense	probably damaging	1.00
IGL02124:Olfr1230	APN	2	89297063	missense	probably benign	0.01
IGL03053:Olfr1230	APN	2	89296445	missense	probably damaging	0.97
R0504:Olfr1230	UTSW	2	89296739	missense	probably damaging	0.99
R1473:Olfr1230	UTSW	2	89296906	nonsense	probably null
R1742:Olfr1230	UTSW	2	89296424	missense	probably damaging	1.00
R1899:Olfr1230	UTSW	2	89296670	missense	probably damaging	1.00
R1900:Olfr1230	UTSW	2	89296670	missense	probably damaging	1.00
R1945:Olfr1230	UTSW	2	89296784	missense	probably damaging	1.00
R2935:Olfr1230	UTSW	2	89297260	missense	possibly damaging	0.69
R3421:Olfr1230	UTSW	2	89296553	missense	probably benign	0.03
R5185:Olfr1230	UTSW	2	89296387	missense	probably benign
R5400:Olfr1230	UTSW	2	89296913	missense	probably damaging	1.00
R6083:Olfr1230	UTSW	2	89297024	missense	probably damaging	1.00
R6086:Olfr1230	UTSW	2	89296854	missense	probably damaging	1.00
R6155:Olfr1230	UTSW	2	89296421	missense	probably damaging	1.00
R6218:Olfr1230	UTSW	2	89296962	missense	probably damaging	0.98
R6361:Olfr1230	UTSW	2	89296646	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGTTGGGTCATGCAGCCTTC -3'
(R):5'- CAGCATGCAGCAATGTCTATTACATAC -3'

Sequencing Primer
(F):5'- CATGCAGCCTTCTAGGGAGATG -3'
(R):5'- CCAGCTCACATCAAATGGA -3'

Posted On

2016-08-04