Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Olfr419'

253670

Institutional Source

Beutler Lab

Gene Symbol

Olfr419

Ensembl Gene

ENSMUSG00000050788

Gene Name

olfactory receptor 419

Synonyms

MOR267-6, GA_x6K02T2P20D-20891507-20892448

MMRRC Submission

040459-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R2871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

174248514-174252061 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 174250526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 134 (S134G)

Ref Sequence

ENSEMBL: ENSMUSP00000149512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027817] [ENSMUST00000061990] [ENSMUST00000214725]

AlphaFold

E9Q0Y7

Predicted Effect

probably benign
Transcript: ENSMUST00000027817

SMART Domains

Protein: ENSMUSP00000027817
Gene: ENSMUSG00000026532

Domain	Start	End	E-Value	Type
SPEC	55	153	3.62e-11	SMART
SPEC	159	259	1.84e-26	SMART
SPEC	265	365	1.56e-24	SMART
SPEC	371	471	8.35e-25	SMART
SPEC	477	577	1.19e-29	SMART
SPEC	583	682	2.43e-26	SMART
SPEC	688	788	1.3e-26	SMART
SPEC	794	894	1.66e-28	SMART
SPEC	900	1077	5.03e-19	SMART
SH3	978	1033	2.98e-15	SMART
SPEC	1083	1178	2.57e-16	SMART
SPEC	1184	1284	1.15e-27	SMART
SPEC	1290	1390	7.05e-23	SMART
SPEC	1396	1495	6.04e-22	SMART
SPEC	1501	1602	1.15e-27	SMART
SPEC	1608	1708	5.46e-29	SMART
SPEC	1714	1814	1.08e-32	SMART
SPEC	1820	1921	2.17e-23	SMART
SPEC	1927	2028	2.19e-19	SMART
SPEC	2042	2142	3.87e-11	SMART
SPEC	2156	2253	9.77e-8	SMART
low complexity region	2307	2318	N/A	INTRINSIC
efhand_Ca_insen	2346	2414	2.37e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000061990
AA Change: S134G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050893
Gene: ENSMUSG00000050788
AA Change: S134G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.4e-53	PFAM
Pfam:7tm_1	41	290	3.2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156092

Predicted Effect

probably benign
Transcript: ENSMUST00000214725
AA Change: S134G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1580

Coding Region Coverage

1x: 99.5%
3x: 98.2%
10x: 92.4%
20x: 72.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,955,176	C811R	possibly damaging	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Akap8l	G	A	17: 32,338,442	T65I	possibly damaging	Het
Arid4a	T	A	12: 71,022,260		probably null	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
Cfap54	A	T	10: 92,921,419	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Ddrgk1	T	A	2: 130,664,644		probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eml5	C	T	12: 98,865,401	D433N	probably damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Frmpd4	A	T	X: 167,477,247	D1166E	probably benign	Het
Gm813	A	T	16: 58,613,979	I125K	probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,357,929	Q127K	probably benign	Het
Hdhd2	T	C	18: 76,955,006	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmcn1	A	T	1: 150,738,716	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,588,498	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,434,813	R520S	probably benign	Het
Kif1c	A	G	11: 70,724,081	E567G	probably damaging	Het
Klf8	A	T	X: 153,382,682	E82D	probably damaging	Het
Kpna7	T	C	5: 144,993,935	T367A	probably benign	Het
Lpo	A	G	11: 87,816,524	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,452,723	I532V	probably benign	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mki67	G	A	7: 135,708,149	P191L	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678	P65L	possibly damaging	Het
Mroh2a	C	A	1: 88,255,565	L1292I	probably damaging	Het
Msh2	C	A	17: 87,685,584	Q314K	possibly damaging	Het
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,710,243	Q40*	probably null	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Notum	A	G	11: 120,660,196	V48A	probably benign	Het
Npas3	C	T	12: 54,068,013	R542*	probably null	Het
Olfr1101	A	T	2: 86,988,848	C109*	probably null	Het
Olfr45	A	G	7: 140,691,285	I127V	possibly damaging	Het
Olfr71	C	A	4: 43,706,458	V37L	probably benign	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Parp1	A	G	1: 180,573,665	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Pkp4	C	A	2: 59,308,156	T250K	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Prdx4	A	G	X: 155,340,464	V15A	probably benign	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Psmd13	A	T	7: 140,887,055	T116S	probably damaging	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,210,405	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,899,569	I48M	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Sppl2c	C	T	11: 104,187,315	P314S	probably benign	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Tnni3k	C	T	3: 154,938,750		probably null	Het
Ugt1a1	AT	A	1: 88,212,371		probably null	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,559,019	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	Het

Other mutations in Olfr419

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Olfr419	APN	1	174250526	missense	probably benign	0.41
IGL01765:Olfr419	APN	1	174250137	missense	probably damaging	1.00
IGL02718:Olfr419	APN	1	174250707	nonsense	probably null
IGL03208:Olfr419	APN	1	174250393	missense	probably damaging	1.00
BB009:Olfr419	UTSW	1	174250694	missense	probably benign	0.00
BB019:Olfr419	UTSW	1	174250694	missense	probably benign	0.00
R1406:Olfr419	UTSW	1	174250861	missense	possibly damaging	0.51
R1406:Olfr419	UTSW	1	174250861	missense	possibly damaging	0.51
R1760:Olfr419	UTSW	1	174250360	missense	probably damaging	0.99
R2138:Olfr419	UTSW	1	174250736	splice site	probably null
R2139:Olfr419	UTSW	1	174250736	splice site	probably null
R2869:Olfr419	UTSW	1	174250526	missense	probably benign	0.41
R2869:Olfr419	UTSW	1	174250526	missense	probably benign	0.41
R2871:Olfr419	UTSW	1	174250526	missense	probably benign	0.41
R2872:Olfr419	UTSW	1	174250526	missense	probably benign	0.41
R2872:Olfr419	UTSW	1	174250526	missense	probably benign	0.41
R2873:Olfr419	UTSW	1	174250526	missense	probably benign	0.41
R2874:Olfr419	UTSW	1	174250526	missense	probably benign	0.41
R3854:Olfr419	UTSW	1	174250150	missense	probably damaging	1.00
R4614:Olfr419	UTSW	1	174250622	missense	possibly damaging	0.93
R4858:Olfr419	UTSW	1	174250696	missense	probably damaging	1.00
R5015:Olfr419	UTSW	1	174250882	missense	possibly damaging	0.91
R5138:Olfr419	UTSW	1	174250829	missense	probably damaging	0.97
R5296:Olfr419	UTSW	1	174250756	missense	possibly damaging	0.75
R5369:Olfr419	UTSW	1	174250441	missense	probably damaging	1.00
R6285:Olfr419	UTSW	1	174250829	missense	possibly damaging	0.62
R7655:Olfr419	UTSW	1	174250218	missense	probably damaging	1.00
R7656:Olfr419	UTSW	1	174250218	missense	probably damaging	1.00
R7753:Olfr419	UTSW	1	174250670	missense	probably benign	0.01
R7932:Olfr419	UTSW	1	174250694	missense	probably benign	0.00
R8179:Olfr419	UTSW	1	174250564	missense	possibly damaging	0.75
R9336:Olfr419	UTSW	1	174250113	missense	probably damaging	1.00
R9758:Olfr419	UTSW	1	174250336	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGGATGAGGATTCCCAGTTCAC -3'
(R):5'- GAGACCTGCTACACATTGGG -3'

Sequencing Primer
(F):5'- GATGAGGATTCCCAGTTCACTTAGC -3'
(R):5'- TGCTACACATTGGGAATCATCC -3'

Posted On

2014-12-04