Mutagenetix > Incidental Mutations

Incidental Mutation 'R1573:Olfr804'

170975

Institutional Source

Beutler Lab

Gene Symbol

Olfr804

Ensembl Gene

ENSMUSG00000095401

Gene Name

olfactory receptor 804

Synonyms

MOR110-7, GA_x6K02T2PULF-11383575-11384519

MMRRC Submission

039612-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R1573 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129703210-129710018 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129705618 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 247 (S247P)

Ref Sequence

ENSEMBL: ENSMUSP00000150132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077312] [ENSMUST00000213331]

Predicted Effect

probably damaging
Transcript: ENSMUST00000077312
AA Change: S247P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076540
Gene: ENSMUSG00000095401
AA Change: S247P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	6e-48	PFAM
Pfam:7tm_1	39	288	3.3e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213331
AA Change: S247P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216747

Meta Mutation Damage Score

0.288

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.1%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,113,618		probably benign	Het
Add1	C	G	5: 34,601,396	A18G	possibly damaging	Het
Alk	T	C	17: 72,603,118	K198E	possibly damaging	Het
Angptl1	T	A	1: 156,857,170	L303Q	possibly damaging	Het
Aox2	A	T	1: 58,309,027	I635L	probably benign	Het
Atp8a2	G	T	14: 59,860,206	T791K	probably benign	Het
Auts2	T	C	5: 131,440,487	K664R	probably damaging	Het
Birc6	T	A	17: 74,660,690		probably benign	Het
Cacna1i	C	A	15: 80,393,668		probably null	Het
Cacna2d1	T	C	5: 16,370,627	F1077L	probably damaging	Het
Camkk1	C	T	11: 73,027,481	R52C	probably damaging	Het
Camkmt	T	A	17: 85,096,530	V60E	probably damaging	Het
Car9	G	T	4: 43,512,439		probably null	Het
Cbr2	A	T	11: 120,731,965	L3Q	possibly damaging	Het
Ccar1	A	T	10: 62,750,655	D920E	unknown	Het
Cdc20b	A	G	13: 113,055,944	N57S	probably benign	Het
Cep83	G	A	10: 94,788,663	E601K	probably damaging	Het
Cldn10	A	T	14: 118,873,668	I176L	probably benign	Het
Cpeb2	T	C	5: 43,283,930		probably benign	Het
Crb1	A	G	1: 139,337,606	S25P	probably damaging	Het
Cyp3a59	A	T	5: 146,102,874	Y319F	probably damaging	Het
Dst	C	T	1: 34,201,231	S1561F	probably damaging	Het
Dxo	C	T	17: 34,838,294	R221C	probably damaging	Het
Epc2	A	G	2: 49,549,972	T801A	possibly damaging	Het
Fam71a	G	A	1: 191,164,485		probably benign	Het
Fndc3a	C	A	14: 72,568,944	C373F	probably damaging	Het
Frmpd1	T	C	4: 45,283,932	S918P	probably benign	Het
Fuca2	A	G	10: 13,505,843	T84A	possibly damaging	Het
Gmeb1	A	T	4: 132,251,740	N21K	probably benign	Het
Htt	T	C	5: 34,864,374		probably benign	Het
Igsf1	T	C	X: 49,791,986	R251G	possibly damaging	Het
Itih4	A	T	14: 30,897,547	H720L	probably benign	Het
Kank4	A	T	4: 98,774,836	L705*	probably null	Het
Krt34	A	T	11: 100,041,028	S122T	probably benign	Het
L1td1	A	G	4: 98,737,280	T571A	probably benign	Het
Lag3	T	C	6: 124,909,247	T248A	possibly damaging	Het
Lgi1	T	A	19: 38,284,181	H133Q	probably benign	Het
Map1a	A	T	2: 121,304,126	T1808S	probably benign	Het
Mcm9	T	C	10: 53,548,656	T613A	probably damaging	Het
Meaf6	A	G	4: 125,090,138	I111V	probably benign	Het
Mki67	G	A	7: 135,695,116	P2730S	possibly damaging	Het
Mlc1	A	C	15: 88,958,147	C337G	probably damaging	Het
Mrc2	T	A	11: 105,336,656	Y572N	probably damaging	Het
Mterf3	T	C	13: 66,922,903	N172S	possibly damaging	Het
Olfr1220	T	A	2: 89,097,720	D69V	probably damaging	Het
Olfr1270	A	T	2: 90,148,724		probably benign	Het
Olfr402	T	A	11: 74,155,370	M72K	probably benign	Het
Olfr987	A	T	2: 85,331,343	L185H	probably damaging	Het
Padi4	T	G	4: 140,757,570	T327P	possibly damaging	Het
Pga5	T	A	19: 10,673,837	I151F	probably benign	Het
Pkdrej	G	T	15: 85,818,074	D1220E	probably benign	Het
Prokr2	T	A	2: 132,373,764	Q259L	probably damaging	Het
Ptbp2	C	A	3: 119,753,105	D43Y	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ralgps2	C	T	1: 156,832,930	R237Q	possibly damaging	Het
Rap1gds1	C	A	3: 138,965,863		probably null	Het
Saa2	T	A	7: 46,752,292	M1K	probably null	Het
Samd9l	T	C	6: 3,375,426	I612V	probably damaging	Het
Scn10a	C	T	9: 119,613,626	V1518I	probably benign	Het
Serpina6	T	C	12: 103,651,753	D267G	probably damaging	Het
Sh2d4b	A	G	14: 40,842,372		probably null	Het
Sh3bp2	T	C	5: 34,560,690	V505A	probably benign	Het
Smad2	A	G	18: 76,262,586	E32G	possibly damaging	Het
Smn1	T	G	13: 100,126,610	D32E	probably damaging	Het
Spata31d1c	T	C	13: 65,035,069	S142P	possibly damaging	Het
Stk39	A	T	2: 68,390,949	I210N	probably damaging	Het
Tcte2	A	G	17: 13,717,637		probably benign	Het
Tctex1d4	A	T	4: 117,127,994	T5S	probably benign	Het
Tctn3	C	A	19: 40,608,917	E230*	probably null	Het
Tenm2	A	T	11: 36,047,069	H1592Q	probably damaging	Het
Tescl	A	G	7: 24,333,243	V219A	probably damaging	Het
Tgm6	C	T	2: 130,151,740	S633L	probably benign	Het
Tmcc1	C	T	6: 116,133,963	S123N	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ulk2	G	A	11: 61,779,755	R992C	probably damaging	Het
Usmg5	T	A	19: 47,086,195	Q9L	possibly damaging	Het
Vwa5b1	G	A	4: 138,604,873	H278Y	probably damaging	Het
Wwp2	C	T	8: 107,548,489	R373W	probably damaging	Het
Zfp24	A	T	18: 24,017,342	D170E	possibly damaging	Het
Zfp808	T	C	13: 62,171,497	I180T	possibly damaging	Het
Zfp820	T	A	17: 21,818,756	Q530H	probably benign	Het
Zfp975	A	T	7: 42,662,083	Y369N	probably benign	Het

Other mutations in Olfr804

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Olfr804	APN	10	129705623	missense	probably benign	0.01
IGL02041:Olfr804	APN	10	129705235	missense	probably damaging	1.00
IGL02245:Olfr804	APN	10	129705739	missense	probably damaging	1.00
IGL02341:Olfr804	APN	10	129705489	missense	probably damaging	0.99
IGL02433:Olfr804	APN	10	129705576	missense	probably benign	0.01
authen	UTSW	10	129705799	missense	probably benign	0.00
R0111:Olfr804	UTSW	10	129705277	missense	probably damaging	1.00
R0309:Olfr804	UTSW	10	129705139	missense	probably benign	0.38
R0326:Olfr804	UTSW	10	129705769	missense	possibly damaging	0.69
R0374:Olfr804	UTSW	10	129705647	missense	probably benign	0.00
R1663:Olfr804	UTSW	10	129705291	missense	probably benign	0.44
R1778:Olfr804	UTSW	10	129705705	missense	probably benign	0.01
R1789:Olfr804	UTSW	10	129705607	missense	possibly damaging	0.82
R1906:Olfr804	UTSW	10	129705496	missense	probably benign	0.00
R2108:Olfr804	UTSW	10	129705621	missense	probably benign
R2211:Olfr804	UTSW	10	129705451	missense	probably benign
R2432:Olfr804	UTSW	10	129704925	missense	possibly damaging	0.91
R2902:Olfr804	UTSW	10	129705451	missense	probably benign
R4114:Olfr804	UTSW	10	129705799	missense	probably benign	0.00
R5149:Olfr804	UTSW	10	129705508	missense	probably benign	0.00
R5153:Olfr804	UTSW	10	129705157	missense	probably benign	0.05
R5846:Olfr804	UTSW	10	129704887	missense	probably damaging	0.99
R6553:Olfr804	UTSW	10	129705063	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- AAAGTGTGCCACCAACTCGTCC -3'
(R):5'- CCCAGAAGACTTCTTTCACCTGCTG -3'

Sequencing Primer
(F):5'- ATTTTACAGATCTCCTGCACAGAC -3'
(R):5'- CCTGCTGGTTTCTTAGTGTATAAATG -3'

Posted On

2014-04-13