Mutagenetix > Incidental Mutation

Incidental Mutation 'R1803:Olfr830'

203296

Institutional Source

Beutler Lab

Gene Symbol

Olfr830

Ensembl Gene

ENSMUSG00000062868

Gene Name

olfactory receptor 830

Synonyms

GA_x6K02T2PVTD-12618399-12619337, MOR152-1

MMRRC Submission

039833-MU

Accession Numbers

Essential gene?

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

Stock #

R1803 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18874693-18878369 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18876080 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 248 (V248A)

Ref Sequence

ENSEMBL: ENSMUSP00000148394 (fasta)

Gene Model

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

AlphaFold

Q8VFJ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000078861
AA Change: V251A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077903
Gene: ENSMUSG00000062868
AA Change: V251A

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 damaging
Transcript: ENSMUST00000212723
AA Change: V248A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	T	17: 79,627,666		probably benign	Het
9330182L06Rik	A	G	5: 9,427,832	H410R	probably benign	Het
Adgrl3	C	T	5: 81,771,617	R586*	probably null	Het
Arpp21	T	C	9: 112,127,398	T471A	possibly damaging	Het
Blnk	T	C	19: 40,952,377	E194G	probably damaging	Het
Cd44	G	A	2: 102,834,252	P332S	probably damaging	Het
Cd47	T	C	16: 49,867,806	F30L	possibly damaging	Het
Cdh23	T	C	10: 60,331,281	E1861G	probably damaging	Het
Cdkal1	T	A	13: 29,517,471	M332L	probably damaging	Het
Cul9	A	G	17: 46,503,097	S2284P	probably damaging	Het
Cyp2a5	G	T	7: 26,835,546		probably null	Het
Dcp2	T	C	18: 44,395,917	I33T	probably damaging	Het
Ddx52	A	T	11: 83,946,132	I150L	probably damaging	Het
Ddx58	A	G	4: 40,224,013	S289P	probably benign	Het
Dennd5a	T	A	7: 109,898,613	T1067S	probably benign	Het
Dnpep	A	T	1: 75,309,414	L419*	probably null	Het
Dock8	A	G	19: 25,132,235	K927R	probably benign	Het
Dpy19l4	A	T	4: 11,281,020	V475E	possibly damaging	Het
Edf1	C	T	2: 25,560,194	S41F	probably damaging	Het
Emilin1	C	T	5: 30,917,738	P441L	possibly damaging	Het
Epha3	T	C	16: 63,602,288	K579E	probably benign	Het
Exoc1	A	G	5: 76,561,441	N23S	probably benign	Het
Fam212a	A	G	9: 107,984,739	V128A	probably benign	Het
Flt3	C	A	5: 147,367,055	E358*	probably null	Het
Fzd1	A	T	5: 4,756,385	I399K	probably damaging	Het
Gdi2	T	A	13: 3,564,547	Y333*	probably null	Het
Gm10479	A	G	12: 20,433,653	H91R	probably benign	Het
Gm10842	G	A	11: 105,147,041	R50K	unknown	Het
Grin2c	A	T	11: 115,260,732		probably null	Het
Grk2	C	T	19: 4,294,883	V53M	probably damaging	Het
H2-M10.2	C	T	17: 36,285,871	M104I	probably benign	Het
Hyou1	C	T	9: 44,384,182	Q290*	probably null	Het
Itgb2	T	C	10: 77,564,790	S746P	probably benign	Het
Jmjd7	C	T	2: 120,030,108	L39F	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Klhl2	T	C	8: 64,759,797	E236G	probably damaging	Het
Krtap19-4	C	A	16: 88,884,991	G26C	unknown	Het
Krtap4-16	G	A	11: 99,851,172	T134I	possibly damaging	Het
Lamb2	A	G	9: 108,488,099	H1318R	probably benign	Het
Mab21l3	G	A	3: 101,835,130	T38M	probably benign	Het
Mfsd10	A	T	5: 34,636,750	D6E	possibly damaging	Het
Mnat1	G	T	12: 73,179,233	G91*	probably null	Het
Mns1	A	T	9: 72,452,734	I389F	probably damaging	Het
Morc1	A	T	16: 48,622,638	T829S	probably benign	Het
Morn5	T	A	2: 36,053,077	V63E	probably benign	Het
Mybpc1	T	C	10: 88,553,295	T404A	possibly damaging	Het
Npc1l1	A	T	11: 6,228,846	M188K	probably damaging	Het
Nrcam	T	A	12: 44,572,208	M846K	probably benign	Het
Nup210	A	C	6: 91,074,282	F373C	probably damaging	Het
Olfr1299	G	T	2: 111,664,754	S176I	probably damaging	Het
Olfr1465	A	T	19: 13,314,171	V38E	possibly damaging	Het
Osbpl8	T	C	10: 111,275,049	S471P	probably damaging	Het
Plekhn1	A	T	4: 156,222,381	I517N	probably benign	Het
Plin4	G	T	17: 56,104,931	T700K	probably damaging	Het
Plxna4	A	T	6: 32,517,444	V79D	probably damaging	Het
Prdm16	A	T	4: 154,335,261	M897K	probably damaging	Het
Ptprg	T	A	14: 12,091,410		probably null	Het
Rcan2	G	T	17: 44,037,033	C211F	probably damaging	Het
Rxfp1	C	T	3: 79,737,769	C9Y	probably benign	Het
Scn2a	G	A	2: 65,670,767		probably null	Het
Scnn1a	A	C	6: 125,332,194	R264S	probably damaging	Het
Sema4g	T	C	19: 44,998,020	V345A	probably benign	Het
Sgo2b	T	A	8: 63,927,392	D802V	probably benign	Het
Slc25a21	G	A	12: 56,858,087	T54I	probably benign	Het
Slc25a46	C	T	18: 31,594,588	E223K	probably damaging	Het
Slc25a54	A	G	3: 109,102,697	I171V	probably benign	Het
Slc7a6	T	C	8: 106,192,456	V224A	possibly damaging	Het
Smchd1	A	T	17: 71,387,006	V1248E	probably damaging	Het
Sort1	C	A	3: 108,325,699	F196L	probably damaging	Het
Sptbn4	G	A	7: 27,418,583	T357M	probably damaging	Het
Srrm3	T	A	5: 135,857,129	W308R	probably damaging	Het
Stard9	A	T	2: 120,701,489	E2742D	probably benign	Het
Tas1r1	T	A	4: 152,032,248	I310F	probably damaging	Het
Tas1r3	G	A	4: 155,860,470	R765C	probably damaging	Het
Tff1	A	T	17: 31,161,586	C85*	probably null	Het
Tlr11	C	T	14: 50,360,647	T30I	probably benign	Het
Trio	T	C	15: 27,748,340	T1265A	probably benign	Het
Ttc7b	T	C	12: 100,407,002	M338V	possibly damaging	Het
Umod	T	A	7: 119,464,724	S620C	probably damaging	Het
Ust	C	A	10: 8,298,055		probably null	Het
Vmn1r176	A	T	7: 23,835,184	S181R	probably damaging	Het
Vmn1r202	T	C	13: 22,502,143	T35A	probably benign	Het
Vmn1r39	C	A	6: 66,804,911	R104L	probably benign	Het
Vps13b	T	A	15: 35,430,205	Y286*	probably null	Het
Zfp579	G	A	7: 4,993,770	R381C	probably damaging	Het
Zfp85	A	G	13: 67,751,628	S71P	probably benign	Het
Zfyve16	A	T	13: 92,504,085	V1254E	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
R1715:Olfr830	UTSW	9	18875794	missense	probably benign	0.06
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'- CTGCACAGACCTGGAAATCCTC -3'
(R):5'- ACCAATAACTTTCTTCAGGGCC -3'

Sequencing Primer
(F):5'- TTGCACAAATCCTGAAGCTTGC -3'
(R):5'- AGGGCCTCCTTCATATCCCTG -3'

Posted On

2014-06-23