Mutagenetix > Incidental Mutation

Incidental Mutation 'R6488:Olfr1474'

522590

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

Accession Numbers

Genbank: NM_001011842.1

Essential gene?

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

Stock #

R6488 (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 13471617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 216 (Y216H)

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: Y216H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093916
Gene: ENSMUSG00000096273
AA Change: Y216H

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: Y216H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

96% (65/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,625,874	Q334*	probably null	Het
4933406M09Rik	T	A	1: 134,390,888	V466D	probably damaging	Het
Abhd15	T	C	11: 77,516,022	F275S	possibly damaging	Het
Adamts7	A	G	9: 90,171,482	T27A	probably benign	Het
Ankar	A	G	1: 72,681,808		probably null	Het
Ap2a2	T	C	7: 141,602,307	V183A	probably benign	Het
Arhgef37	G	A	18: 61,518,052	A134V	probably benign	Het
Col3a1	C	A	1: 45,331,534		probably benign	Het
Cxcr5	A	G	9: 44,513,979	V127A	probably damaging	Het
Eif4b	T	A	15: 102,092,987		probably benign	Het
Ext2	A	G	2: 93,806,085	V228A	probably damaging	Het
Fam83h	T	C	15: 76,002,053	E1145G	possibly damaging	Het
Fcgbp	A	G	7: 28,093,538	D989G	probably damaging	Het
Fchsd1	T	C	18: 37,967,268		probably null	Het
Fcnb	T	C	2: 28,078,289	K219E	probably damaging	Het
Fndc7	T	C	3: 108,870,575	E355G	probably damaging	Het
Glis3	T	C	19: 28,298,853	H746R	probably benign	Het
Glod4	A	G	11: 76,237,785	V74A	probably damaging	Het
Gm10436	T	C	12: 88,177,587	H152R	possibly damaging	Het
Gpc6	T	C	14: 117,964,713	I445T	possibly damaging	Het
Hdlbp	T	C	1: 93,428,224	D337G	probably damaging	Het
Hnf1a	T	C	5: 114,955,961	T190A	probably benign	Het
Iqgap1	G	C	7: 80,730,326	T1129R	probably benign	Het
Kcnc3	T	C	7: 44,595,182	F299L	possibly damaging	Het
Kif1bp	C	A	10: 62,559,658		probably null	Het
Kif26b	T	C	1: 178,529,573	V4A	unknown	Het
Klra9	G	T	6: 130,179,032	Y253*	probably null	Het
Krtap4-1	G	T	11: 99,628,077	R36S	unknown	Het
Lman1l	A	G	9: 57,620,643	S10P	possibly damaging	Het
Lrpprc	T	C	17: 84,751,353	N693S	probably damaging	Het
Lrrc49	A	T	9: 60,602,633	F157L	probably damaging	Het
Mettl22	T	C	16: 8,487,361	F293L	probably damaging	Het
Mga	T	A	2: 119,960,907	N2424K	probably damaging	Het
Mpdz	G	T	4: 81,287,733	A1784E	probably benign	Het
Mpv17l	G	A	16: 13,946,588		probably null	Het
Mtus1	G	A	8: 41,041,508	S29L	possibly damaging	Het
Myo15	A	T	11: 60,478,487	H691L	possibly damaging	Het
Nbea	T	C	3: 55,717,843	T2276A	probably damaging	Het
Npas4	A	G	19: 4,985,983	S718P	probably damaging	Het
Ntrk2	T	A	13: 58,861,356	N320K	possibly damaging	Het
Nup214	T	A	2: 31,991,372	I414N	possibly damaging	Het
Oas2	A	G	5: 120,738,363	F15S	probably damaging	Het
Olfr625-ps1	T	C	7: 103,683,078	I110T	probably damaging	Het
Pabpc6	A	G	17: 9,669,599	Y8H	probably damaging	Het
Pbx1	T	A	1: 168,191,395	N294Y	probably damaging	Het
Pcyt1a	T	C	16: 32,467,081	M190T	probably damaging	Het
Pogk	T	C	1: 166,399,422	I387V	possibly damaging	Het
Ppp6r2	T	C	15: 89,268,538	L294P	probably benign	Het
Ptprn2	T	A	12: 116,872,038	I331K	probably benign	Het
Ptpro	T	G	6: 137,393,675	Y591*	probably null	Het
Ptprz1	T	A	6: 23,001,517	L1202*	probably null	Het
Rab37	A	G	11: 115,157,963	T73A	probably benign	Het
Rad51ap2	T	G	12: 11,458,160	S694R	possibly damaging	Het
Rb1cc1	T	A	1: 6,270,727	D148E	probably damaging	Het
Rraga	G	A	4: 86,576,328	R137H	probably damaging	Het
Serpinf2	A	G	11: 75,437,503	V73A	probably benign	Het
Siglec1	T	C	2: 131,081,307	N506S	probably damaging	Het
Slc35e4	T	C	11: 3,912,602	T196A	possibly damaging	Het
St6galnac3	C	T	3: 153,411,757	A110T	probably damaging	Het
Thsd1	T	C	8: 22,243,717	V260A	probably benign	Het
Tpbg	T	A	9: 85,844,485	V169D	possibly damaging	Het
Trav16n	A	G	14: 53,351,585	E106G	probably benign	Het
Vmn1r219	T	C	13: 23,162,965	I108T	probably benign	Het
Vmn2r50	T	C	7: 10,037,717	I686V	probably damaging	Het
Zdhhc20	C	T	14: 57,840,832	R329K	probably benign	Het
Zfp64	A	G	2: 168,935,209		probably null	Het
Zfp941	C	T	7: 140,812,750	R232H	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
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
R6233:Olfr1474	UTSW	19	13471740	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'- GGTGCTACACTTGTGGGATC -3'
(R):5'- CACAGGGTTCAGCATAGGAATG -3'

Sequencing Primer
(F):5'- GCTACACTTGTGGGATCTTACAATC -3'
(R):5'- GTTCAGCATAGGAATGACCATTG -3'

Posted On

2018-06-06