Mutagenetix > Incidental Mutations

Incidental Mutation 'R1473:Olfr414'

165888

Institutional Source

Beutler Lab

Gene Symbol

Olfr414

Ensembl Gene

ENSMUSG00000051509

Gene Name

olfactory receptor 414

Synonyms

GA_x6K02T2P20D-20749615-20748662, MOR103-10

MMRRC Submission

039526-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R1473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

174424064-174434747 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 174430643 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 72 (W72R)

Ref Sequence

ENSEMBL: ENSMUSP00000142051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053178] [ENSMUST00000192358]

Predicted Effect

probably damaging
Transcript: ENSMUST00000053178
AA Change: W72R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052426
Gene: ENSMUSG00000051509
AA Change: W72R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.8e-53	PFAM
Pfam:7tm_1	41	290	8.3e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000192358
AA Change: W72R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142051
Gene: ENSMUSG00000051509
AA Change: W72R

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	2.9e-29	PFAM
Pfam:7tm_4	139	283	1.1e-45	PFAM

Meta Mutation Damage Score

0.3906

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

98% (88/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,068,236	D342G	probably damaging	Het
Acad8	T	C	9: 26,979,041	T293A	probably benign	Het
Adamts13	C	A	2: 26,981,753	Y310*	probably null	Het
Adcy6	T	A	15: 98,592,743	Y1102F	probably damaging	Het
Ahctf1	G	A	1: 179,776,108	T791M	probably benign	Het
Ahctf1	A	G	1: 179,799,279	V18A	probably damaging	Het
Ampd3	T	G	7: 110,804,935	S564R	probably damaging	Het
Anapc1	A	T	2: 128,617,697	I1814K	possibly damaging	Het
Arl4c	A	T	1: 88,701,609	L19Q	probably damaging	Het
Atp6v0e2	T	C	6: 48,539,264	Y49H	probably damaging	Het
Ccdc24	G	T	4: 117,869,904		probably benign	Het
Clcn6	A	C	4: 148,024,156	F139V	possibly damaging	Het
Col2a1	A	G	15: 97,982,908		probably benign	Het
Crip2	T	A	12: 113,143,500	C29S	probably damaging	Het
Cyp2a4	A	C	7: 26,314,763	N455T	probably benign	Het
Dhcr7	A	G	7: 143,841,368	D113G	probably damaging	Het
Dhcr7	T	C	7: 143,847,068	Y323H	probably damaging	Het
Dnah7a	A	C	1: 53,496,014	S2696A	probably benign	Het
Dnajc12	A	G	10: 63,397,244	T55A	probably benign	Het
Drosha	G	A	15: 12,912,520	E1075K	probably benign	Het
Duox2	A	G	2: 122,287,121	S911P	possibly damaging	Het
Ephb2	G	A	4: 136,694,058	A327V	possibly damaging	Het
Espl1	C	T	15: 102,320,443	T1711I	possibly damaging	Het
Fmnl2	A	G	2: 52,858,207	K22R	possibly damaging	Het
Fzd6	T	C	15: 39,030,963	F175L	probably damaging	Het
Gm4737	T	A	16: 46,154,819	E65V	probably damaging	Het
Gm5155	A	G	7: 17,905,091		noncoding transcript	Het
Gm6526	A	G	14: 43,748,846	I76M	probably damaging	Het
Gm6583	T	C	5: 112,354,549	T430A	probably benign	Het
Gm9881	A	T	16: 91,170,735	F34I	unknown	Het
Gm9892	T	C	8: 52,196,614	D148G	possibly damaging	Het
Grb10	C	T	11: 11,934,249	V486I	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hdac4	T	C	1: 92,029,968	H108R	possibly damaging	Het
Hist2h2bb	G	T	3: 96,270,072	L107F	probably damaging	Het
Hmcn1	G	A	1: 150,772,552	T661I	probably benign	Het
Icam1	T	A	9: 21,027,876	I515N	probably damaging	Het
Ifi208	A	G	1: 173,695,654	R497G	possibly damaging	Het
Igsf10	A	T	3: 59,318,767	V2495E	probably damaging	Het
Iqgap1	T	C	7: 80,734,011	M1102V	probably benign	Het
Itgb4	A	T	11: 115,984,047	N410I	probably benign	Het
Jup	T	C	11: 100,379,601	H360R	possibly damaging	Het
Kif20b	T	A	19: 34,974,496	S1685T	possibly damaging	Het
Lins1	T	C	7: 66,712,046		probably null	Het
Lrig1	T	A	6: 94,607,313	T917S	probably benign	Het
Mast2	A	G	4: 116,311,955	S814P	probably damaging	Het
Mast4	T	C	13: 102,772,519	T483A	probably damaging	Het
Mcpt1	T	C	14: 56,019,533	M176T	probably benign	Het
Mettl22	A	G	16: 8,473,961	Q38R	probably damaging	Het
Mrm2	T	C	5: 140,328,688	T131A	probably benign	Het
Nde1	T	G	16: 14,185,864	F71V	probably benign	Het
Nxn	C	T	11: 76,263,187	G274D	possibly damaging	Het
Olfr1230	A	T	2: 89,296,906	Y121*	probably null	Het
Olfr183	A	T	16: 58,999,912	T76S	probably benign	Het
Olfr427	G	T	1: 174,099,749	C97F	probably damaging	Het
Osbp2	T	C	11: 3,717,175		probably null	Het
Otud7a	C	A	7: 63,754,629		probably benign	Het
Phf3	G	A	1: 30,805,940	L1313F	probably damaging	Het
Pkhd1	A	T	1: 20,522,983	D1635E	probably benign	Het
Plpp1	A	G	13: 112,859,664	H171R	probably damaging	Het
Pofut1	A	G	2: 153,261,246	M172V	probably damaging	Het
Prmt5	A	G	14: 54,508,915	F580L	probably damaging	Het
Rab11fip3	A	T	17: 25,991,322	L987Q	probably damaging	Het
Retnlb	T	A	16: 48,818,665	C76*	probably null	Het
Rnf38	T	C	4: 44,131,584	N399S	probably benign	Het
Sbk1	A	G	7: 126,292,252	E286G	possibly damaging	Het
Scin	T	A	12: 40,077,502	T430S	probably benign	Het
Sgsm1	T	A	5: 113,263,257	T868S	probably benign	Het
Sipa1l1	G	A	12: 82,341,111	R37H	probably damaging	Het
Smchd1	A	T	17: 71,361,837		probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Soga1	A	T	2: 157,020,448	Y1520*	probably null	Het
Stk32c	C	T	7: 139,125,179	R23Q	probably damaging	Het
Sult1d1	A	G	5: 87,564,739	M82T	probably benign	Het
Tat	T	C	8: 109,996,918	L346P	probably damaging	Het
Tenm3	C	A	8: 48,310,625	G789V	probably damaging	Het
Thsd7a	C	T	6: 12,338,622	S1203N	probably benign	Het
Tmem191c	G	A	16: 17,277,962		probably null	Het
Tmem268	A	G	4: 63,580,338	T239A	probably damaging	Het
Tmem82	A	C	4: 141,616,278	L227R	possibly damaging	Het
Ttn	A	T	2: 76,727,032	I29906N	probably damaging	Het
Txndc15	T	C	13: 55,721,574		probably benign	Het
Ubqln4	A	G	3: 88,565,845	I536V	probably benign	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Vmn2r102	A	T	17: 19,694,581	I803F	probably benign	Het
Vmn2r6	G	T	3: 64,538,158	Y715*	probably null	Het
Vmn2r74	A	T	7: 85,961,410	C25S	probably damaging	Het
Wdr38	A	G	2: 39,000,979	T261A	probably benign	Het
Zfp653	T	C	9: 22,058,220	E250G	possibly damaging	Het

Other mutations in Olfr414

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:Olfr414	APN	1	174431342	missense	probably benign	0.00
IGL01560:Olfr414	APN	1	174430901	missense	probably benign	0.17
IGL01795:Olfr414	APN	1	174430649	missense	possibly damaging	0.83
IGL03286:Olfr414	APN	1	174431177	missense	probably benign	0.01
PIT4131001:Olfr414	UTSW	1	174430824	missense	probably damaging	1.00
R0219:Olfr414	UTSW	1	174430466	missense	probably benign	0.00
R0492:Olfr414	UTSW	1	174430563	missense	possibly damaging	0.95
R1052:Olfr414	UTSW	1	174431135	nonsense	probably null
R1054:Olfr414	UTSW	1	174430853	missense	probably benign	0.36
R1675:Olfr414	UTSW	1	174431097	missense	probably benign
R1774:Olfr414	UTSW	1	174431339	missense	probably benign	0.00
R1861:Olfr414	UTSW	1	174431091	missense	probably damaging	1.00
R1959:Olfr414	UTSW	1	174430905	missense	probably damaging	1.00
R1978:Olfr414	UTSW	1	174431091	missense	probably damaging	1.00
R4043:Olfr414	UTSW	1	174431091	missense	probably damaging	1.00
R5020:Olfr414	UTSW	1	174430671	missense	probably damaging	0.98
R5354:Olfr414	UTSW	1	174430686	missense	probably damaging	0.98
R5873:Olfr414	UTSW	1	174430782	missense	possibly damaging	0.84
R6053:Olfr414	UTSW	1	174430569	nonsense	probably null
Z1176:Olfr414	UTSW	1	174430591	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- GCTGTTATTGCTTCGATGCACCTG -3'
(R):5'- TCATGGAACTGAAGAACCCGCTG -3'

Sequencing Primer
(F):5'- ATTCAAGTGGACTGGCACC -3'
(R):5'- CCAGTCTGGGAGGCATGAG -3'

Posted On

2014-03-28