Mutagenetix > Incidental Mutation

Incidental Mutation 'R1715:Olfr830'

190942

Institutional Source

Beutler Lab

Gene Symbol

Olfr830

Ensembl Gene

ENSMUSG00000062868

Gene Name

olfactory receptor 830

Synonyms

GA_x6K02T2PVTD-12618399-12619337, MOR152-1

MMRRC Submission

039748-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R1715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18874693-18878369 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18875794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 156 (I156F)

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: I156F

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000077903
Gene: ENSMUSG00000062868
AA Change: I156F

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: I153F

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,199,824		probably null	Het
2210010C04Rik	A	G	6: 41,032,936		probably null	Het
2410089E03Rik	T	A	15: 8,226,900		probably null	Het
Abca8a	G	A	11: 110,091,580	T12M	probably damaging	Het
Alms1	T	A	6: 85,629,052	Y2561*	probably null	Het
Atp10a	G	A	7: 58,786,505	V348I	probably damaging	Het
Best2	T	C	8: 85,011,223	Y181C	probably benign	Het
Btaf1	T	A	19: 36,969,121	D442E	probably damaging	Het
C330027C09Rik	C	T	16: 49,005,719	T383I	probably benign	Het
Carmil3	T	G	14: 55,504,532	V1153G	probably benign	Het
Cc2d2a	A	G	5: 43,718,661	I993M	probably damaging	Het
Ccng1	G	A	11: 40,752,114	P169S	probably benign	Het
Cmtr2	T	C	8: 110,222,798	L580P	probably damaging	Het
Col22a1	T	C	15: 72,006,981	E109G	possibly damaging	Het
Crispld2	G	T	8: 120,023,649	W264L	possibly damaging	Het
Cyp2c38	T	C	19: 39,404,795	H276R	probably benign	Het
Dag1	A	T	9: 108,208,715	V409E	possibly damaging	Het
Emc8	T	C	8: 120,658,555	N146S	probably benign	Het
Glt8d1	T	C	14: 31,011,521	V321A	possibly damaging	Het
Gm5174	C	T	10: 86,656,912		noncoding transcript	Het
Hdac10	G	T	15: 89,126,709		probably null	Het
Hectd4	A	G	5: 121,344,818	D3144G	possibly damaging	Het
Ifna11	C	T	4: 88,820,236	S93L	probably damaging	Het
Il16	T	C	7: 83,648,728	N431S	probably benign	Het
Irf8	A	T	8: 120,754,388	E237V	probably damaging	Het
Lrp1b	A	G	2: 41,185,981	Y1769H	probably damaging	Het
Lrrc9	A	G	12: 72,477,299	N761D	probably damaging	Het
Mbtps1	T	C	8: 119,542,730	Y207C	probably benign	Het
Myo9a	A	G	9: 59,832,300	E765G	probably damaging	Het
Nlrp3	A	G	11: 59,543,351	D80G	probably damaging	Het
Olfr361	G	A	2: 37,085,176	P191S	probably damaging	Het
Olfr697	G	C	7: 106,741,548	P129A	probably damaging	Het
Pcyt2	T	A	11: 120,615,851		probably null	Het
Plxnd1	T	C	6: 115,968,681	T944A	probably benign	Het
Psd4	A	T	2: 24,405,332	I833F	probably damaging	Het
Psmd7	A	G	8: 107,581,185	I222T	probably benign	Het
Rap2b	A	G	3: 61,365,190	E45G	probably damaging	Het
Rbm22	T	C	18: 60,560,844	S7P	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rfx4	A	G	10: 84,844,280	N107S	probably damaging	Het
Ripk2	T	A	4: 16,155,192		probably null	Het
Rpgrip1	T	A	14: 52,140,691	C499S	possibly damaging	Het
Scarf1	T	C	11: 75,524,044	S515P	probably damaging	Het
Sgip1	T	C	4: 102,915,059	V215A	probably benign	Het
Sis	T	C	3: 72,889,010	I1813V	possibly damaging	Het
Slc17a3	A	T	13: 23,856,741	T317S	probably benign	Het
Slc35e1	T	C	8: 72,483,977	N340S	probably benign	Het
Smg6	A	G	11: 74,929,430	I176V	probably benign	Het
Smim17	T	C	7: 6,429,326	L89S	probably damaging	Het
Synm	T	C	7: 67,736,303	N95S	probably damaging	Het
Tdrd9	A	G	12: 112,036,439	K841E	possibly damaging	Het
Tep1	G	T	14: 50,854,567	F570L	possibly damaging	Het
Tgm3	G	A	2: 130,026,814		probably null	Het
Tra2b	T	C	16: 22,252,746	Y128C	possibly damaging	Het
Vmn2r17	T	C	5: 109,428,244	V327A	probably benign	Het
Wdr20rt	A	T	12: 65,227,314	D344V	probably damaging	Het
Zfp940	A	G	7: 29,844,938	C515R	probably 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
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
R4814:Olfr830	UTSW	9	18875917	missense	probably benign	0.30
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'- TCAGAGGATAACTTTTGCTGGCTGC -3'
(R):5'- AACTGACAAATGAGACCCACAGGTG -3'

Sequencing Primer
(F):5'- GGCTTATGATCGCTACATAGCC -3'
(R):5'- CCTTCTGATGATGGCATTTTCAATAC -3'

Posted On

2014-05-14