Mutagenetix > Incidental Mutation

Incidental Mutation 'R0173:Olfr1474'

23751

Institutional Source

Beutler Lab

Gene Symbol

Olfr1474

Ensembl Gene

ENSMUSG00000096273

Gene Name

olfactory receptor 1474

Synonyms

MOR202-42, MOR202-26P, GA_x6K02T2RE5P-3803583-3804527

MMRRC Submission

038445-MU

Accession Numbers

Genbank: NM_001011842.1

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0173 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

13469565-13472157 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13471701 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 244 (I244F)

Ref Sequence

ENSEMBL: ENSMUSP00000151810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096202] [ENSMUST00000207529] [ENSMUST00000220113]

AlphaFold

Q7TQQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000096202
AA Change: I244F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000093916
Gene: ENSMUSG00000096273
AA Change: I244F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.6e-52	PFAM
Pfam:7TM_GPCR_Srsx	33	303	1e-7	PFAM
Pfam:7tm_1	39	288	8.7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207529

Predicted Effect

probably benign
Transcript: ENSMUST00000220113
AA Change: I244F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 95.1%

Validation Efficiency

96% (64/67)

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

none

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	G	A	8: 99,421,654		noncoding transcript	Het
Akt1s1	C	T	7: 44,852,860	P95S	possibly damaging	Het
Ambra1	T	C	2: 91,810,219		probably benign	Het
Aunip	T	A	4: 134,523,550	W269R	probably damaging	Het
Bmper	A	G	9: 23,224,829	M69V	probably benign	Het
Cdh2	A	T	18: 16,650,257		probably benign	Het
Cenpe	T	C	3: 135,259,983	M2074T	probably benign	Het
Col14a1	C	T	15: 55,488,532	P1592S	probably damaging	Het
Csgalnact1	G	A	8: 68,461,029	R175C	probably damaging	Het
Dtx1	A	G	5: 120,682,753		probably benign	Het
Elmod3	T	C	6: 72,577,588	D154G	probably damaging	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Gab1	T	C	8: 80,800,160	D103G	possibly damaging	Het
Gon4l	A	G	3: 88,858,403	D377G	probably damaging	Het
Gramd1c	C	T	16: 43,997,833	R328K	possibly damaging	Het
Hdac3	A	G	18: 37,941,753	S312P	probably damaging	Het
Hmcn2	T	C	2: 31,438,331		probably null	Het
Intu	T	C	3: 40,675,346		probably null	Het
Lnpk	T	C	2: 74,551,065	K118R	probably damaging	Het
Lzts3	A	C	2: 130,634,768	*587G	probably null	Het
Mctp2	C	T	7: 72,247,107		probably null	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mmp23	G	T	4: 155,650,765	R374S	possibly damaging	Het
Morc3	G	A	16: 93,832,206		probably null	Het
Mymk	C	T	2: 27,062,250	A161T	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Neb	T	C	2: 52,243,847	S3375G	probably damaging	Het
Nedd1	T	C	10: 92,698,883	D255G	probably benign	Het
Nid2	T	C	14: 19,802,332		probably benign	Het
Nr1d2	A	G	14: 18,215,502		probably benign	Het
Nus1	A	G	10: 52,417,998	H86R	possibly damaging	Het
Olfr829	A	G	9: 18,857,029	I135V	probably damaging	Het
Plcxd2	A	T	16: 45,965,179		probably null	Het
Prdm9	T	A	17: 15,544,013	D835V	probably benign	Het
Prdm9	A	G	17: 15,544,035	W828R	probably benign	Het
Prkd2	T	C	7: 16,849,044	S244P	probably benign	Het
Psmd4	A	T	3: 95,032,923	L159H	probably damaging	Het
Qprt	C	T	7: 127,108,371	G215E	probably damaging	Het
Rab3gap2	C	A	1: 185,249,907	H385Q	possibly damaging	Het
Rapgef5	A	G	12: 117,688,676	D300G	probably benign	Het
Rbl1	A	T	2: 157,159,685	N894K	probably benign	Het
Rgma	C	T	7: 73,417,554	R280W	probably damaging	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Rundc3a	T	A	11: 102,398,245		probably benign	Het
Scaf11	A	T	15: 96,420,194	D496E	probably benign	Het
Scn9a	T	C	2: 66,533,093	Y936C	probably damaging	Het
Sdk1	A	G	5: 142,173,809		probably benign	Het
Serpinb9	G	A	13: 33,010,722	D154N	probably benign	Het
Slc48a1	A	T	15: 97,790,674	H131L	possibly damaging	Het
Slco1a6	T	C	6: 142,103,122	N311D	probably benign	Het
Sorl1	A	G	9: 42,067,933	V423A	probably damaging	Het
Srrm2	C	A	17: 23,815,129		probably benign	Het
Srsf12	A	T	4: 33,226,117	S122C	probably damaging	Het
Suclg2	G	C	6: 95,475,173		probably benign	Het
Tbpl1	A	T	10: 22,707,624	L149*	probably null	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Tmem63a	T	C	1: 180,954,798		probably benign	Het
Tut1	C	T	19: 8,965,483	R645*	probably null	Het
Ubqln4	T	A	3: 88,555,379	D50E	probably benign	Het
Ubr5	A	G	15: 38,004,675	S1227P	probably damaging	Het
Vipas39	A	G	12: 87,250,511		probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vps26b	G	A	9: 27,012,805	T214I	probably benign	Het
Xpc	A	G	6: 91,504,735		probably benign	Het

Other mutations in Olfr1474

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03256:Olfr1474	APN	19	13471267	missense	probably damaging	0.99
D605:Olfr1474	UTSW	19	13471157	nonsense	probably null
R1102:Olfr1474	UTSW	19	13471407	missense	probably damaging	0.97
R1515:Olfr1474	UTSW	19	13471680	missense	probably damaging	0.97
R1780:Olfr1474	UTSW	19	13471362	missense	probably benign	0.14
R2061:Olfr1474	UTSW	19	13471241	missense	probably damaging	0.98
R4016:Olfr1474	UTSW	19	13471197	missense	possibly damaging	0.95
R4485:Olfr1474	UTSW	19	13471555	missense	probably benign	0.08
R5119:Olfr1474	UTSW	19	13471546	missense	probably benign	0.00
R5150:Olfr1474	UTSW	19	13471430	missense	probably benign	0.01
R5156:Olfr1474	UTSW	19	13471673	missense	probably damaging	1.00
R5699:Olfr1474	UTSW	19	13470972	start codon destroyed	probably null	0.78
R5800:Olfr1474	UTSW	19	13471896	missense	probably benign	0.06
R5840:Olfr1474	UTSW	19	13471878	missense	probably benign	0.01
R5953:Olfr1474	UTSW	19	13471368	missense	possibly damaging	0.92
R5997:Olfr1474	UTSW	19	13471506	missense	probably benign	0.12
R6233:Olfr1474	UTSW	19	13471740	missense	probably damaging	1.00
R6488:Olfr1474	UTSW	19	13471617	missense	probably damaging	1.00
R6847:Olfr1474	UTSW	19	13471038	missense	probably benign	0.03
R6964:Olfr1474	UTSW	19	13471361	nonsense	probably null
R7214:Olfr1474	UTSW	19	13470973	start codon destroyed	probably null	1.00
R8001:Olfr1474	UTSW	19	13471422	missense	probably benign	0.03
R8035:Olfr1474	UTSW	19	13471899	missense	probably benign
R8129:Olfr1474	UTSW	19	13471144	missense	probably damaging	1.00
R9018:Olfr1474	UTSW	19	13471357	missense	possibly damaging	0.60
R9061:Olfr1474	UTSW	19	13471159	missense	probably damaging	0.98
R9065:Olfr1474	UTSW	19	13471306	missense	probably damaging	0.97
R9373:Olfr1474	UTSW	19	13471852	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCATGCAGCAGTGTGCAAACC -3'
(R):5'- CTTTGTTCCTCAGGCTGTAGACCAC -3'

Sequencing Primer
(F):5'- TTATGACAAGTACCACCTGCATTC -3'
(R):5'- TGTAGACCACAGGGTTCAGC -3'

Posted On

2013-04-16