Mutagenetix > Incidental Mutation

Incidental Mutation 'R6233:Olfr1474'

504795

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

044361-MU

Accession Numbers

Genbank: NM_001011842.1

Essential gene?

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

Stock #

R6233 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13469565-13472157 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13471740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 257 (Y257H)

Ref Sequence

ENSEMBL: ENSMUSP00000151810 (fasta)

Gene Model

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

AlphaFold

Q7TQQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000096202
AA Change: Y257H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093916
Gene: ENSMUSG00000096273
AA Change: Y257H

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 damaging
Transcript: ENSMUST00000220113
AA Change: Y257H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (79/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	G	6: 48,930,965	T300A	probably benign	Het
9530053A07Rik	T	C	7: 28,131,460	C33R	probably damaging	Het
Acvr1	T	A	2: 58,448,399	N437I	probably benign	Het
Adgrg7	T	A	16: 56,778,642	T57S	possibly damaging	Het
Agbl2	T	A	2: 90,813,313	D792E	probably benign	Het
AI481877	T	A	4: 59,076,245	D566V	possibly damaging	Het
Ankrd9	A	T	12: 110,977,120	I160N	probably damaging	Het
Baz2b	T	A	2: 59,907,511	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,666,740	*174Q	probably null	Het
Cacna1a	A	G	8: 84,588,753	Y1539C	probably damaging	Het
Clmn	A	C	12: 104,785,455	L247R	probably damaging	Het
Cyp1b1	G	T	17: 79,714,266	L16M	probably damaging	Het
Dhx29	T	A	13: 112,964,537	S1205T	probably benign	Het
Dmkn	C	A	7: 30,779,679	A280E	probably damaging	Het
Dnah7b	G	A	1: 46,204,269	D1578N	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dsc3	C	T	18: 19,965,795	G776R	possibly damaging	Het
Eefsec	A	G	6: 88,358,544		probably null	Het
Efhb	A	G	17: 53,462,552	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 78,871,233	Y137*	probably null	Het
Eny2	A	G	15: 44,433,660		probably null	Het
F2rl3	A	G	8: 72,762,885	T247A	probably benign	Het
Fan1	A	T	7: 64,354,371	H782Q	probably damaging	Het
Fbxo28	A	G	1: 182,341,508	S22P	unknown	Het
Fcrlb	A	G	1: 170,908,889	I106T	probably damaging	Het
Fer1l5	T	C	1: 36,375,286		probably null	Het
Fgfbp1	T	C	5: 43,979,362	D196G	possibly damaging	Het
Gab1	A	T	8: 80,879,532	Y24*	probably null	Het
Gcc2	T	C	10: 58,270,984	S681P	probably damaging	Het
Git2	T	C	5: 114,767,114	N94S	probably benign	Het
Gm4756	T	C	12: 72,619,567	Y110C	probably damaging	Het
Gm5346	T	G	8: 43,625,912	N425T	probably benign	Het
Gm5799	T	G	14: 43,544,631	L87V	probably damaging	Het
Gm884	A	T	11: 103,613,388	L2585I	probably damaging	Het
Gna12	A	G	5: 140,760,692	F333L	possibly damaging	Het
Gria2	A	G	3: 80,707,203	I510T	probably damaging	Het
Hace1	T	A	10: 45,670,443	I391N	possibly damaging	Het
Il1rap	A	G	16: 26,710,506	T310A	probably benign	Het
Itpr3	T	C	17: 27,086,960	I164T	probably damaging	Het
Kcnk4	T	C	19: 6,928,329	N90S	probably benign	Het
Krt40	G	A	11: 99,543,094	A22V	possibly damaging	Het
Lamc1	A	T	1: 153,223,666	D1520E	probably benign	Het
Mipep	T	A	14: 60,872,105	W644R	probably damaging	Het
Mycl	A	G	4: 122,999,920	D171G	probably damaging	Het
Myh7b	C	T	2: 155,631,799	A1584V	possibly damaging	Het
Nf1	A	G	11: 79,565,975	Y629C	probably damaging	Het
Obscn	T	A	11: 58,997,207	E2164V	probably damaging	Het
Olfr1061	T	C	2: 86,413,207	I282V	probably damaging	Het
Olfr1152	T	C	2: 87,868,560	S190P	possibly damaging	Het
Olfr648	A	T	7: 104,179,754	V218D	possibly damaging	Het
Olfr799	T	C	10: 129,647,296	M56T	probably benign	Het
Pcdh20	T	C	14: 88,468,052	E604G	probably benign	Het
Pilra	T	C	5: 137,823,501	T291A	possibly damaging	Het
Ppp1r9a	G	T	6: 5,077,610	D630Y	probably damaging	Het
Pros1	A	C	16: 62,898,921	Q102P	possibly damaging	Het
Rad21l	T	C	2: 151,653,542	D407G	probably benign	Het
Rapgef5	G	A	12: 117,739,718		probably null	Het
Rbm25	G	A	12: 83,659,426	A182T	probably benign	Het
Rnf13	A	G	3: 57,832,970	E236G	possibly damaging	Het
Robo3	T	G	9: 37,420,929	Y891S	probably damaging	Het
Rsrp1	T	A	4: 134,926,802	I255K	probably damaging	Het
Scn1a	T	A	2: 66,277,618	Y1588F	possibly damaging	Het
Sdr16c6	T	A	4: 4,069,984	I119F	probably damaging	Het
Slc12a7	T	C	13: 73,805,471	S767P	possibly damaging	Het
Slc23a1	A	G	18: 35,624,444	I258T	probably damaging	Het
Spata13	G	A	14: 60,692,007	R338H	probably benign	Het
Sufu	G	A	19: 46,475,632	G428R	probably damaging	Het
Sult2a1	T	C	7: 13,832,675	D125G	probably damaging	Het
Tapbp	T	C	17: 33,919,982	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,210,565	K40*	probably null	Het
Tdrd6	A	G	17: 43,629,752	V135A	probably damaging	Het
Tenm3	A	C	8: 48,417,059	V233G	probably damaging	Het
Tmem87a	A	T	2: 120,392,175		probably null	Het
Tspan11	T	C	6: 127,938,264	Y114H	probably damaging	Het
Ttn	T	A	2: 76,737,653	Y27632F	probably benign	Het
Usp44	G	A	10: 93,850,340	C539Y	probably damaging	Het
Vmn2r73	G	A	7: 85,869,891	P508S	probably benign	Het
Zfp831	A	G	2: 174,646,697	D1055G	possibly damaging	Het
Zfp871	CCACAC	CC	17: 32,775,520		probably null	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
R0173:Olfr1474	UTSW	19	13471701	missense	probably benign	0.02
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
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'- TGCTCGTCTTGGCTACATTAG -3'
(R):5'- CCAATGCATGAAGTCAAAGTTCTC -3'

Sequencing Primer
(F):5'- CGTCTTGGCTACATTAGATCTTG -3'
(R):5'- AAATAAAACATTTCACAGGCTTGAG -3'

Posted On

2018-02-28