Mutagenetix > Incidental Mutations

Incidental Mutation 'R5652:Olfr828'

441488

Institutional Source

Beutler Lab

Gene Symbol

Olfr828

Ensembl Gene

ENSMUSG00000078116

Gene Name

olfactory receptor 828

Synonyms

MOR149-1, GA_x6K02T2PVTD-12559294-12558356

MMRRC Submission

043298-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R5652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18814728-18819526 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18815626 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 223 (S223P)

Ref Sequence

ENSEMBL: ENSMUSP00000148853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104914] [ENSMUST00000213018] [ENSMUST00000215380]

Predicted Effect

probably damaging
Transcript: ENSMUST00000104914
AA Change: S223P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100514
Gene: ENSMUSG00000078116
AA Change: S223P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	310	1e-48	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.4e-5	PFAM
Pfam:7tm_1	41	290	2.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213018
AA Change: S223P

Predicted Effect

probably damaging
Transcript: ENSMUST00000215380
AA Change: S223P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	G	9: 22,424,490	T135A	probably benign	Het
Abcc4	T	C	14: 118,618,927	I334V	probably benign	Het
Adamts5	C	T	16: 85,899,268	A334T	probably damaging	Het
Adcy4	G	C	14: 55,773,443	F672L	probably benign	Het
Adgrl1	A	G	8: 83,929,815	Y254C	probably damaging	Het
Adnp2	A	G	18: 80,130,850	S115P	probably damaging	Het
Aox1	A	T	1: 58,095,197	S1110C	probably damaging	Het
Arhgap44	G	T	11: 65,024,238	N401K	probably damaging	Het
Atp23	A	T	10: 126,899,625	N63K	possibly damaging	Het
Atp8b1	G	C	18: 64,531,382	I1238M	probably benign	Het
Ccdc38	A	T	10: 93,555,586		probably null	Het
Celsr2	T	C	3: 108,396,735	D2364G	probably null	Het
Celsr3	G	A	9: 108,838,472	D2116N	probably benign	Het
Cenpf	A	G	1: 189,657,082	S1518P	probably damaging	Het
Clcn3	C	A	8: 60,919,353	V758L	possibly damaging	Het
Ctsf	T	C	19: 4,858,477	L288P	probably damaging	Het
Cwh43	A	G	5: 73,418,141	T334A	probably damaging	Het
Cyp3a57	A	T	5: 145,349,325		probably null	Het
Ddr1	C	T	17: 35,686,508	A531T	probably benign	Het
Dennd1a	A	G	2: 37,801,126	I260T	probably benign	Het
Dgkh	T	C	14: 78,627,761	H47R	probably damaging	Het
Dync1h1	G	A	12: 110,665,988	V4514I	possibly damaging	Het
Dync2h1	A	T	9: 7,116,638	M66K	probably benign	Het
Fam186a	T	G	15: 99,945,372	Y997S	possibly damaging	Het
Fam8a1	T	A	13: 46,674,338	L334H	probably damaging	Het
Fat4	C	T	3: 39,002,968	T4271I	probably damaging	Het
Fdxacb1	T	A	9: 50,768,405	L41Q	probably damaging	Het
Fgfr2	C	T	7: 130,261,863	V18M	probably damaging	Het
Gpa33	A	C	1: 166,165,145		probably null	Het
Gpr1	A	G	1: 63,183,467	V203A	probably benign	Het
Gpr107	A	G	2: 31,185,589	I371V	probably benign	Het
Hectd2	T	C	19: 36,604,320	V420A	probably damaging	Het
Hist1h1t	A	G	13: 23,696,236	K124R	probably benign	Het
Iglc3	A	G	16: 19,065,670		probably benign	Het
Igtp	A	G	11: 58,206,629	T209A	probably benign	Het
Itgb7	T	A	15: 102,216,203	N793I	possibly damaging	Het
Kansl1	G	A	11: 104,338,166	R870C	probably damaging	Het
Kcnh6	C	T	11: 106,008,985	R27C	probably damaging	Het
Kif2b	T	A	11: 91,575,830	E542D	possibly damaging	Het
Klhl24	C	A	16: 20,120,247	Y517*	probably null	Het
Klhl25	A	G	7: 75,866,147	D267G	probably benign	Het
Krr1	C	A	10: 111,977,383	F195L	possibly damaging	Het
Lsr	C	T	7: 30,959,031	G95D	probably damaging	Het
Med15	A	T	16: 17,655,191	I504N	probably damaging	Het
Mug1	A	G	6: 121,840,181	R70G	probably benign	Het
Mypn	T	A	10: 63,135,801	Q820L	probably damaging	Het
Nlrp4f	A	T	13: 65,182,989	H863Q	probably benign	Het
Nudt9	G	A	5: 104,059,780	V213M	probably benign	Het
Olfr177	A	G	16: 58,872,484	L222P	probably damaging	Het
Olfr891	T	C	9: 38,180,815	T3A	probably benign	Het
Olfr987	T	A	2: 85,331,373	N175I	probably damaging	Het
Orc2	A	G	1: 58,466,072	F475L	probably damaging	Het
Oxa1l	T	A	14: 54,366,832	L183*	probably null	Het
Pcdh20	T	C	14: 88,467,324	T847A	probably damaging	Het
Pcdha6	G	A	18: 36,968,836		probably null	Het
Pip5k1a	T	C	3: 95,067,439	N376S	probably benign	Het
Pkd1l1	T	C	11: 8,909,889	E573G	probably benign	Het
Pkp1	T	A	1: 135,882,597		probably null	Het
Pum1	T	C	4: 130,764,127	I643T	possibly damaging	Het
Rapgef3	A	G	15: 97,758,437	S328P	probably benign	Het
Raver1	A	G	9: 21,090,312	V75A	probably damaging	Het
Rbm28	T	C	6: 29,135,409	E511G	probably damaging	Het
Satb1	T	A	17: 51,742,795	T544S	probably damaging	Het
Sdcbp2	T	C	2: 151,589,215	V248A	probably benign	Het
Sema7a	A	G	9: 57,960,659	D506G	probably damaging	Het
Sept8	A	G	11: 53,537,217	E286G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,422,812	I660V	probably damaging	Het
Stk38l	G	T	6: 146,773,328	D364Y	possibly damaging	Het
Sycp2	T	C	2: 178,358,705		probably null	Het
Tbc1d31	T	A	15: 57,951,666	S580T	probably damaging	Het
Tcerg1l	G	A	7: 138,280,046	R305C	probably damaging	Het
Tek	T	A	4: 94,855,324	Y859N	probably damaging	Het
Tjp1	A	T	7: 65,312,443		probably null	Het
Tmem132d	A	T	5: 127,784,795	I754N	possibly damaging	Het
Togaram1	G	A	12: 65,016,650	V1580I	probably benign	Het
Troap	A	G	15: 99,082,264	T442A	probably benign	Het
Ttn	A	T	2: 76,881,753		probably benign	Het
Twnk	T	A	19: 45,007,293	V55E	possibly damaging	Het
Uggt1	A	T	1: 36,216,153	Y225*	probably null	Het
Vmn2r109	A	G	17: 20,540,519	*859Q	probably null	Het
Vmn2r17	A	T	5: 109,429,564	I494L	probably benign	Het
Vmn2r88	T	C	14: 51,418,572	V746A	probably damaging	Het
Yae1d1	A	G	13: 17,991,706	L57P	probably damaging	Het
Zfp26	G	A	9: 20,437,841	R476*	probably null	Het
Zmynd8	T	A	2: 165,807,698	Q816L	probably damaging	Het
Zswim8	A	T	14: 20,713,427	H414L	possibly damaging	Het

Other mutations in Olfr828

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02088:Olfr828	APN	9	18815923	missense	probably benign	0.03
IGL02103:Olfr828	APN	9	18815709	missense	probably damaging	1.00
IGL02792:Olfr828	APN	9	18815958	missense	probably benign	0.00
IGL02964:Olfr828	APN	9	18815728	missense	probably damaging	1.00
IGL03087:Olfr828	APN	9	18816084	missense	probably damaging	1.00
IGL03105:Olfr828	APN	9	18815389	missense	probably benign	0.03
R0330:Olfr828	UTSW	9	18815641	missense	probably damaging	1.00
R0335:Olfr828	UTSW	9	18815994	missense	probably damaging	1.00
R0862:Olfr828	UTSW	9	18815706	missense	probably damaging	0.98
R1226:Olfr828	UTSW	9	18815970	missense	probably benign	0.34
R2004:Olfr828	UTSW	9	18815505	missense	probably benign	0.05
R2005:Olfr828	UTSW	9	18815505	missense	probably benign	0.05
R2006:Olfr828	UTSW	9	18815505	missense	probably benign	0.05
R2199:Olfr828	UTSW	9	18815923	missense	probably damaging	0.97
R2230:Olfr828	UTSW	9	18815725	missense	probably damaging	1.00
R2399:Olfr828	UTSW	9	18816027	missense	probably benign	0.07
R5738:Olfr828	UTSW	9	18815829	missense	possibly damaging	0.81
R6416:Olfr828	UTSW	9	18815892	missense	probably benign	0.21
R6813:Olfr828	UTSW	9	18815892	missense	probably benign	0.21
R7092:Olfr828	UTSW	9	18816057	missense	probably damaging	1.00
R7109:Olfr828	UTSW	9	18815608	missense	probably benign	0.01
R7292:Olfr828	UTSW	9	18816190	missense	probably damaging	1.00
R7429:Olfr828	UTSW	9	18815354	makesense	probably null
R7430:Olfr828	UTSW	9	18815354	makesense	probably null
R7490:Olfr828	UTSW	9	18815933	nonsense	probably null
R7835:Olfr828	UTSW	9	18815809	missense	probably benign	0.05
R8016:Olfr828	UTSW	9	18816292	start codon destroyed	probably null	0.56
R8809:Olfr828	UTSW	9	18815623	missense	probably damaging	0.99
RF003:Olfr828	UTSW	9	18815482	missense	probably benign	0.03
X0026:Olfr828	UTSW	9	18815763	missense	possibly damaging	0.95
Z1176:Olfr828	UTSW	9	18815980	frame shift	probably null
Z1177:Olfr828	UTSW	9	18816148	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AGGCTACCTCCATGTCTCTG -3'
(R):5'- CGGTTGTCCTTCTGCACAAAC -3'

Sequencing Primer
(F):5'- TGTGGGACCAATGTACACATC -3'
(R):5'- GTCCTTCTGCACAAACTTAGAAATC -3'

Posted On

2016-11-08