Mutagenetix > Incidental Mutation

Incidental Mutation 'R1925:Olfr204'

213387

Institutional Source

Beutler Lab

Gene Symbol

Olfr204

Ensembl Gene

ENSMUSG00000095928

Gene Name

olfactory receptor 204

Synonyms

GA_x54KRFPKG5P-55529713-55528796, MOR182-3

MMRRC Submission

039943-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R1925 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59310206-59318248 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59314664 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 248 (S248P)

Ref Sequence

ENSEMBL: ENSMUSP00000151176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072517] [ENSMUST00000207927] [ENSMUST00000216261]

AlphaFold

E9Q8M0

Predicted Effect

probably damaging
Transcript: ENSMUST00000072517
AA Change: S248P

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

SMART Domains

Protein: ENSMUSP00000072332
Gene: ENSMUSG00000095928
AA Change: S248P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	305	1.5e-49	PFAM
Pfam:7TM_GPCR_Srsx	34	299	2.3e-9	PFAM
Pfam:7tm_1	40	289	3.4e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207927
AA Change: S248P

Predicted Effect

probably damaging
Transcript: ENSMUST00000216261
AA Change: S248P

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

99% (79/80)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,671,607	H577R	probably damaging	Het
Acvr1	T	C	2: 58,447,649	M474V	probably damaging	Het
Adam1a	A	T	5: 121,519,450	C593*	probably null	Het
Agap2	A	G	10: 127,090,875	N927S	probably damaging	Het
Ahctf1	T	C	1: 179,770,653	H958R	probably damaging	Het
Apaf1	A	G	10: 90,999,719	V1088A	probably damaging	Het
Brpf1	G	T	6: 113,319,930	K958N	probably damaging	Het
Cadps	A	G	14: 12,705,726	I223T	probably damaging	Het
Catsperg2	T	C	7: 29,697,764	M1105V	probably benign	Het
Clasp2	T	A	9: 113,906,197	F1033L	possibly damaging	Het
Col4a3	T	A	1: 82,700,373	I1232N	unknown	Het
Col4a3	T	G	1: 82,711,874		probably benign	Het
Comtd1	T	G	14: 21,847,663	E134A	probably damaging	Het
Cyp2c55	A	T	19: 39,034,377	T320S	probably benign	Het
Dlx2	T	C	2: 71,546,178	N72S	probably benign	Het
Dnhd1	T	A	7: 105,652,252	V272E	probably damaging	Het
Dnhd1	T	A	7: 105,673,854	I523N	probably damaging	Het
Dpysl3	T	A	18: 43,332,931	I140F	probably damaging	Het
Elmod2	G	A	8: 83,321,464	A123V	probably benign	Het
Etv4	T	C	11: 101,771,681		probably benign	Het
F3	A	T	3: 121,729,383	T81S	probably damaging	Het
Faf2	C	T	13: 54,652,052	A224V	probably damaging	Het
Fbn1	A	T	2: 125,363,629	M1109K	probably damaging	Het
Fnbp4	A	G	2: 90,765,843	E586G	probably damaging	Het
Gm10428	G	T	11: 62,753,353		probably benign	Het
Gm13088	T	A	4: 143,654,455	T333S	probably damaging	Het
Gm5884	A	T	6: 128,645,087		noncoding transcript	Het
Gm6471	T	A	7: 142,831,582		noncoding transcript	Het
Gtse1	T	C	15: 85,873,738	V515A	probably benign	Het
H2-M2	T	C	17: 37,482,500	E205G	probably damaging	Het
Ido1	T	A	8: 24,585,290	T259S	possibly damaging	Het
Il1r2	A	G	1: 40,115,148	Y225C	probably damaging	Het
Kcnq3	T	G	15: 66,004,809	D495A	possibly damaging	Het
Lrrc49	T	C	9: 60,649,490	N321D	probably benign	Het
Lztr1	G	T	16: 17,523,383	R291L	probably damaging	Het
Micu1	C	T	10: 59,733,161		probably benign	Het
Msh5	C	T	17: 35,029,952	V702I	probably benign	Het
Myh1	T	C	11: 67,211,170	I792T	probably benign	Het
Nav1	T	A	1: 135,607,229		probably benign	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1044	T	C	2: 86,171,010	D269G	probably benign	Het
Olfr266	C	T	3: 106,822,372	M62I	probably damaging	Het
Otof	G	C	5: 30,394,188	N340K	probably benign	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Plek2	T	A	12: 78,894,890	Y155F	probably damaging	Het
Ppa1	T	A	10: 61,651,609	Y38*	probably null	Het
Prmt9	T	A	8: 77,577,339	C684S	possibly damaging	Het
Rasl10a	A	G	11: 5,059,473	D87G	possibly damaging	Het
Rtn4rl1	C	A	11: 75,266,038	P432Q	probably benign	Het
Scd4	T	G	19: 44,341,384	Y265D	probably damaging	Het
Scn5a	C	T	9: 119,529,019	A719T	probably benign	Het
Sdk1	T	A	5: 142,185,285	F1968I	probably benign	Het
Sh3bp5	T	C	14: 31,435,923	E12G	probably benign	Het
Slc6a12	T	A	6: 121,360,526	F390I	probably benign	Het
Snapin	A	T	3: 90,490,232	D77E	possibly damaging	Het
Sox2	G	T	3: 34,650,671	E86*	probably null	Het
Sparcl1	A	G	5: 104,093,354	L68P	probably benign	Het
Sptb	T	A	12: 76,622,253	E562V	probably damaging	Het
Taar3	A	T	10: 23,950,585	H343L	probably benign	Het
Tanc1	T	A	2: 59,724,751	V51E	possibly damaging	Het
Tbc1d22a	T	C	15: 86,239,149	S128P	probably damaging	Het
Thada	A	G	17: 84,444,499	S350P	probably benign	Het
Tmem161b	T	C	13: 84,260,229	V93A	probably benign	Het
Tnn	T	C	1: 160,097,229	Y1185C	probably damaging	Het
Trim43a	T	C	9: 88,582,318	V94A	probably benign	Het
Ttll12	C	T	15: 83,581,775	E407K	probably benign	Het
Ttn	T	C	2: 76,725,512	E30383G	probably damaging	Het
Vmn1r29	T	A	6: 58,308,102	M269K	possibly damaging	Het
Vmn2r117	A	G	17: 23,478,389	S110P	probably benign	Het
Vmn2r6	C	A	3: 64,556,277	V290L	possibly damaging	Het
Vmn2r8	A	T	5: 108,802,153	L276Q	probably damaging	Het
Zan	C	A	5: 137,425,642	C2665F	unknown	Het
Zfp507	C	T	7: 35,793,725	R631Q	probably damaging	Het
Zfp983	A	G	17: 21,662,017	H287R	probably damaging	Het

Other mutations in Olfr204

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01771:Olfr204	APN	16	59314528	missense	probably damaging	1.00
IGL01915:Olfr204	APN	16	59315110	missense	probably damaging	1.00
R0265:Olfr204	UTSW	16	59315071	missense	probably damaging	1.00
R0532:Olfr204	UTSW	16	59314601	missense	probably benign	0.00
R1719:Olfr204	UTSW	16	59314706	nonsense	probably null
R1864:Olfr204	UTSW	16	59315015	missense	probably damaging	1.00
R1889:Olfr204	UTSW	16	59314963	missense	probably damaging	0.98
R2973:Olfr204	UTSW	16	59315404	start codon destroyed	probably null	1.00
R3078:Olfr204	UTSW	16	59314726	missense	probably benign
R3819:Olfr204	UTSW	16	59315071	missense	probably damaging	1.00
R4036:Olfr204	UTSW	16	59314750	missense	probably benign
R4698:Olfr204	UTSW	16	59315357	missense	probably damaging	1.00
R4930:Olfr204	UTSW	16	59314873	missense	probably damaging	1.00
R5457:Olfr204	UTSW	16	59314850	missense	probably benign	0.12
R6597:Olfr204	UTSW	16	59315350	missense	probably benign	0.00
R7341:Olfr204	UTSW	16	59315149	missense	possibly damaging	0.69
R7512:Olfr204	UTSW	16	59315027	missense	probably damaging	0.99
R7702:Olfr204	UTSW	16	59314634	missense	probably damaging	1.00
R8132:Olfr204	UTSW	16	59314544	missense	possibly damaging	0.55
R9642:Olfr204	UTSW	16	59315247	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- CTAAAATTAGGATGCACATCAGGAG -3'
(R):5'- GCGATTTCTTGCACAGATCC -3'

Sequencing Primer
(F):5'- TAGGATGCACATCAGGAGATAAAAAG -3'
(R):5'- TGCACAGATCCATCTCTTAATGG -3'

Posted On

2014-07-14