Mutagenetix > Incidental Mutations

Incidental Mutation 'R0098:Olfr1461'

17924

Institutional Source

Beutler Lab

Gene Symbol

Olfr1461

Ensembl Gene

ENSMUSG00000045883

Gene Name

olfactory receptor 1461

Synonyms

GA_x6K02T2RE5P-3491834-3492772, MOR202-35

MMRRC Submission

038384-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R0098 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

13163000-13168130 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13165662 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 216 (I216K)

Ref Sequence

ENSEMBL: ENSMUSP00000146358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053772] [ENSMUST00000207113] [ENSMUST00000208489]

Predicted Effect

probably benign
Transcript: ENSMUST00000053772
AA Change: I216K

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000053269
Gene: ENSMUSG00000045883
AA Change: I216K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	6e-55	PFAM
Pfam:7TM_GPCR_Srsx	36	306	8e-6	PFAM
Pfam:7tm_1	42	291	2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207113
AA Change: I216K

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000208489

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 90.4%
3x: 88.1%
10x: 82.9%
20x: 75.6%

Validation Efficiency

93% (78/84)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	T	17: 35,896,417		probably benign	Het
Acad9	T	C	3: 36,073,540	I97T	probably damaging	Het
Adam32	T	A	8: 24,914,389	Y200F	possibly damaging	Het
Adcy4	T	C	14: 55,769,827	N976S	possibly damaging	Het
Adgrb2	C	G	4: 130,007,831	P416R	probably damaging	Het
Alpk2	A	G	18: 65,349,911	L342S	probably damaging	Het
Ambra1	T	A	2: 91,767,711	H72Q	possibly damaging	Het
Ankrd10	T	C	8: 11,612,560	H391R	probably benign	Het
Arfgef3	A	G	10: 18,589,642	V2151A	probably damaging	Het
Atm	T	C	9: 53,518,569	D389G	probably benign	Het
Atp10b	A	T	11: 43,189,604	S236C	probably benign	Het
B3gat1	C	T	9: 26,756,941	R276C	probably damaging	Het
Bcl9l	C	T	9: 44,505,617	P251S	probably benign	Het
Cdhr5	C	A	7: 141,269,868	G331W	probably damaging	Het
Cmklr1	T	C	5: 113,614,470	T157A	probably benign	Het
Cndp1	T	A	18: 84,628,824	E246D	probably damaging	Het
Cntn4	A	G	6: 106,618,424		probably benign	Het
Crebbp	A	G	16: 4,091,928	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,387,254	E452*	probably null	Het
Emb	T	C	13: 117,267,498	V262A	probably damaging	Het
Ephb1	C	T	9: 102,041,140	R390H	probably damaging	Het
Faf1	T	C	4: 109,935,499	L556S	probably damaging	Het
Fat2	T	C	11: 55,298,605	T1196A	probably damaging	Het
Fbf1	A	T	11: 116,148,119		probably null	Het
Gid8	T	A	2: 180,714,735	I55N	possibly damaging	Het
Hexa	T	C	9: 59,558,100	Y213H	probably damaging	Het
Igf2bp1	T	C	11: 95,973,163	K234E	probably damaging	Het
Ighv1-58	C	T	12: 115,312,299	G73E	probably benign	Het
Kalrn	A	T	16: 33,975,619	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,552,738	V3281I	probably benign	Het
Lrp2	T	C	2: 69,475,412	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,190,780	V160E	probably benign	Het
Muc19	C	T	15: 91,892,907		noncoding transcript	Het
Nrxn3	A	G	12: 89,260,201	D202G	probably damaging	Het
Nxn	A	T	11: 76,278,594		probably benign	Het
Palld	C	A	8: 61,525,086	G890V	probably damaging	Het
Pcx	C	A	19: 4,601,747		probably benign	Het
Pik3c2g	T	C	6: 139,662,443	S416P	unknown	Het
Ppa2	C	T	3: 133,370,473		probably benign	Het
Ppp1r18	A	G	17: 35,867,996	I254M	probably benign	Het
Prune2	A	G	19: 17,123,903	E2257G	possibly damaging	Het
Rd3	A	G	1: 191,985,300	M244V	probably benign	Het
Rfx5	T	A	3: 94,958,368	V326E	probably damaging	Het
Rgs3	G	C	4: 62,625,906	R305P	probably damaging	Het
Rpp40	A	G	13: 35,898,987	Y173H	probably benign	Het
Ryr3	T	C	2: 112,901,031	N645D	probably damaging	Het
Sema3e	T	C	5: 14,252,432	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,413,518	V390E	probably damaging	Het
Shank1	A	G	7: 44,313,285	Y141C	unknown	Het
Smg1	A	T	7: 118,145,467	M3154K	probably benign	Het
Tdrd12	A	G	7: 35,475,993	L996P	probably damaging	Het
Tfrc	G	T	16: 32,623,426	V490F	probably damaging	Het
Tie1	T	C	4: 118,486,587	S53G	probably benign	Het
Topaz1	T	C	9: 122,790,123	Y1262H	possibly damaging	Het
Ttc3	A	T	16: 94,390,265	H222L	probably benign	Het
Ubxn8	T	C	8: 33,635,365		probably benign	Het
Unk	A	G	11: 116,050,169	Y252C	probably damaging	Het
Vwc2l	A	G	1: 70,729,131	Y71C	probably damaging	Het
Zfp386	T	A	12: 116,059,214	L184*	probably null	Het

Other mutations in Olfr1461

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Olfr1461	APN	19	13165371	missense	probably damaging	1.00
IGL01370:Olfr1461	APN	19	13165299	missense	possibly damaging	0.95
IGL01936:Olfr1461	APN	19	13165403	missense	probably damaging	1.00
R0270:Olfr1461	UTSW	19	13165887	missense	probably damaging	1.00
R0575:Olfr1461	UTSW	19	13165387	nonsense	probably null
R0627:Olfr1461	UTSW	19	13165250	missense	probably benign	0.43
R1779:Olfr1461	UTSW	19	13165040	missense	probably benign	0.00
R1956:Olfr1461	UTSW	19	13165196	missense	probably damaging	1.00
R2446:Olfr1461	UTSW	19	13165447	missense	probably benign	0.00
R3622:Olfr1461	UTSW	19	13165656	missense	probably benign	0.06
R4485:Olfr1461	UTSW	19	13165491	missense	possibly damaging	0.54
R4605:Olfr1461	UTSW	19	13165248	missense	probably damaging	1.00
R4757:Olfr1461	UTSW	19	13165913	missense	probably benign	0.01
R4816:Olfr1461	UTSW	19	13165124	missense	probably benign	0.10
R5038:Olfr1461	UTSW	19	13165591	missense	probably benign	0.39
R7026:Olfr1461	UTSW	19	13165415	missense	probably benign	0.08

Posted On

2013-03-25