Mutagenetix > Incidental Mutation

Incidental Mutation 'R1870:Olfr164'

210696

Institutional Source

Beutler Lab

Gene Symbol

Olfr164

Ensembl Gene

ENSMUSG00000050742

Gene Name

olfactory receptor 164

Synonyms

GA_x54KRFPKG5P-15738260-15737319, MOR279-2

MMRRC Submission

039892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19284104-19314064 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19286607 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 45 (N45K)

Ref Sequence

ENSEMBL: ENSMUSP00000149971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056727] [ENSMUST00000216157]

AlphaFold

Q8VF87

Predicted Effect

probably damaging
Transcript: ENSMUST00000056727
AA Change: N45K

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

SMART Domains

Protein: ENSMUSP00000056970
Gene: ENSMUSG00000050742
AA Change: N45K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	311	2.3e-49	PFAM
Pfam:7TM_GPCR_Srsx	38	308	8.2e-8	PFAM
Pfam:7tm_1	44	293	5.9e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216157
AA Change: N45K

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.1%

Validation Efficiency

97% (96/99)

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
9330182L06Rik	A	G	5: 9,418,007 (GRCm38)	E225G	probably damaging	Het
Abca13	A	T	11: 9,292,134 (GRCm38)	E1332D	probably benign	Het
Abca5	C	A	11: 110,329,217 (GRCm38)	V8L	probably benign	Het
Abcc8	C	T	7: 46,123,915 (GRCm38)	E797K	probably benign	Het
Acd	C	A	8: 105,698,407 (GRCm38)		probably null	Het
Adamts12	T	C	15: 11,311,154 (GRCm38)	S1166P	probably benign	Het
AI481877	G	A	4: 59,054,142 (GRCm38)		probably benign	Het
Alox12b	T	C	11: 69,158,373 (GRCm38)	Y83H	possibly damaging	Het
Antxr2	A	T	5: 98,030,438 (GRCm38)	S38T	probably damaging	Het
Aox1	A	G	1: 58,076,103 (GRCm38)	E749G	probably damaging	Het
Arpc1a	T	A	5: 145,107,091 (GRCm38)	C344S	possibly damaging	Het
BC055324	G	A	1: 163,964,794 (GRCm38)	L545F	probably damaging	Het
Bcan	T	C	3: 87,995,601 (GRCm38)	Y290C	probably damaging	Het
Bod1l	G	A	5: 41,833,675 (GRCm38)	S179F	possibly damaging	Het
Catsper3	A	C	13: 55,805,748 (GRCm38)	D224A	probably damaging	Het
Ccar2	A	G	14: 70,140,497 (GRCm38)	S680P	probably damaging	Het
Ccdc18	A	G	5: 108,220,837 (GRCm38)	H1275R	possibly damaging	Het
Ccdc40	T	C	11: 119,259,904 (GRCm38)	M1011T	possibly damaging	Het
Cfap46	T	A	7: 139,683,470 (GRCm38)	D17V	probably damaging	Het
Csn1s2a	T	C	5: 87,778,199 (GRCm38)	F45L	probably benign	Het
Cwf19l2	T	G	9: 3,458,802 (GRCm38)	N750K	possibly damaging	Het
Cyb5r4	A	G	9: 87,040,409 (GRCm38)	D157G	probably benign	Het
D130040H23Rik	T	A	8: 69,302,702 (GRCm38)	I253N	probably benign	Het
Dennd4a	C	T	9: 64,897,234 (GRCm38)	A1285V	probably benign	Het
Dlat	A	G	9: 50,637,574 (GRCm38)	S561P	probably damaging	Het
Dlgap2	T	A	8: 14,773,347 (GRCm38)	V522E	probably damaging	Het
Dnah5	T	A	15: 28,331,713 (GRCm38)	Y2148*	probably null	Het
Dnase2a	T	C	8: 84,908,763 (GRCm38)		probably benign	Het
Fam83f	T	C	15: 80,689,912 (GRCm38)		probably benign	Het
Foxi1	A	T	11: 34,207,937 (GRCm38)	N29K	possibly damaging	Het
Galk2	T	C	2: 125,975,263 (GRCm38)	L324P	probably benign	Het
Gdpd4	G	A	7: 97,972,955 (GRCm38)	V214I	probably benign	Het
Gfra3	C	T	18: 34,711,320 (GRCm38)	A56T	probably damaging	Het
Glyctk	A	G	9: 106,155,348 (GRCm38)	S489P	probably damaging	Het
Gm5346	A	T	8: 43,625,095 (GRCm38)	Y697*	probably null	Het
Gm884	T	C	11: 103,620,605 (GRCm38)	D179G	unknown	Het
Izumo4	A	T	10: 80,703,735 (GRCm38)	I135F	probably damaging	Het
Krt83	T	A	15: 101,487,190 (GRCm38)	T342S	probably benign	Het
L1td1	T	A	4: 98,737,477 (GRCm38)	D636E	possibly damaging	Het
Letm2	A	G	8: 25,596,444 (GRCm38)		probably benign	Het
Lpin1	A	G	12: 16,541,743 (GRCm38)	F828L	probably damaging	Het
Mdn1	T	A	4: 32,763,339 (GRCm38)	D5146E	probably damaging	Het
Megf10	T	A	18: 57,191,185 (GRCm38)	Y99*	probably null	Het
Men1	A	G	19: 6,337,630 (GRCm38)	D285G	probably damaging	Het
Mertk	T	G	2: 128,801,196 (GRCm38)	D838E	probably benign	Het
Mta1	T	C	12: 113,128,074 (GRCm38)	S266P	possibly damaging	Het
Mta3	G	A	17: 83,781,968 (GRCm38)	V320M	probably damaging	Het
Nlrp9c	G	A	7: 26,384,820 (GRCm38)	Q445*	probably null	Het
Olfr558	T	C	7: 102,709,754 (GRCm38)	I165T	possibly damaging	Het
Olfr885	A	T	9: 38,061,350 (GRCm38)	K10I	probably benign	Het
Olfr974	T	G	9: 39,942,821 (GRCm38)	I187R	probably damaging	Het
Pbrm1	T	A	14: 31,106,175 (GRCm38)	L1320I	probably damaging	Het
Pdzd2	G	T	15: 12,457,886 (GRCm38)	T297K	probably damaging	Het
Pfas	T	C	11: 68,991,969 (GRCm38)	D782G	probably damaging	Het
Pik3c3	T	C	18: 30,293,132 (GRCm38)		probably null	Het
Pira2	T	C	7: 3,844,453 (GRCm38)	N79S	probably damaging	Het
Pkdrej	G	T	15: 85,816,431 (GRCm38)	T1768K	probably damaging	Het
Plcb3	T	C	19: 6,962,985 (GRCm38)	I439V	probably benign	Het
Pold4	T	A	19: 4,232,539 (GRCm38)	Y58*	probably null	Het
Ppef2	T	G	5: 92,250,512 (GRCm38)	Q49P	probably damaging	Het
Ralgapa1	T	A	12: 55,677,032 (GRCm38)	I2026F	possibly damaging	Het
Rest	T	A	5: 77,268,362 (GRCm38)	V141E	possibly damaging	Het
Rnf139	T	C	15: 58,899,353 (GRCm38)	V409A	probably benign	Het
Rnpc3	T	C	3: 113,611,055 (GRCm38)		probably benign	Het
S100a10	A	T	3: 93,561,070 (GRCm38)	E36V	probably benign	Het
S1pr3	A	C	13: 51,419,916 (GRCm38)	K378Q	probably benign	Het
Scaper	T	A	9: 55,685,938 (GRCm38)	I472F	probably damaging	Het
Sgcg	G	A	14: 61,240,447 (GRCm38)		probably benign	Het
Shank1	A	T	7: 44,342,115 (GRCm38)	R69*	probably null	Het
Siglecf	A	G	7: 43,355,543 (GRCm38)	N399S	probably benign	Het
Slc25a54	T	A	3: 109,080,616 (GRCm38)	Y24*	probably null	Het
Slc29a4	T	C	5: 142,721,488 (GRCm38)	*529R	probably null	Het
Slc41a2	G	A	10: 83,301,165 (GRCm38)	Q293*	probably null	Het
Slc4a7	T	C	14: 14,737,509 (GRCm38)		probably null	Het
Slfn9	G	T	11: 82,981,576 (GRCm38)	T778N	probably benign	Het
Ssr2	T	C	3: 88,576,642 (GRCm38)		probably benign	Het
Tecrl	T	A	5: 83,354,859 (GRCm38)	T33S	probably benign	Het
Tnfrsf9	T	A	4: 150,934,347 (GRCm38)	C158*	probably null	Het
Tradd	T	C	8: 105,259,160 (GRCm38)	E253G	possibly damaging	Het
Usp34	A	G	11: 23,364,479 (GRCm38)	H807R	probably benign	Het
Vmn2r27	T	C	6: 124,224,211 (GRCm38)	I262M	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397 (GRCm38)		noncoding transcript	Het
Vps13a	A	G	19: 16,759,952 (GRCm38)	V91A	probably damaging	Het
Vwf	C	T	6: 125,642,939 (GRCm38)	R1527C	probably damaging	Het
Wwc1	C	T	11: 35,861,945 (GRCm38)	G763D	probably damaging	Het
Zfp526	T	G	7: 25,225,169 (GRCm38)	D284E	possibly damaging	Het
Zfp646	T	C	7: 127,883,849 (GRCm38)	F1733L	possibly damaging	Het
Zfp90	A	G	8: 106,419,123 (GRCm38)	H29R	probably benign	Het
Zkscan4	A	G	13: 21,483,934 (GRCm38)	E185G	probably benign	Het

Other mutations in Olfr164

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01529:Olfr164	APN	16	19,286,700 (GRCm38)	missense	probably benign	0.01
IGL01569:Olfr164	APN	16	19,286,660 (GRCm38)	missense	probably benign	0.28
IGL01619:Olfr164	APN	16	19,286,159 (GRCm38)	missense	probably damaging	1.00
IGL02101:Olfr164	APN	16	19,286,613 (GRCm38)	missense	probably benign
IGL02201:Olfr164	APN	16	19,286,462 (GRCm38)	missense	probably benign	0.03
IGL02730:Olfr164	APN	16	19,286,682 (GRCm38)	missense	probably benign	0.00
IGL03228:Olfr164	APN	16	19,286,390 (GRCm38)	missense	probably damaging	1.00
R1566:Olfr164	UTSW	16	19,286,327 (GRCm38)	missense	possibly damaging	0.76
R1817:Olfr164	UTSW	16	19,285,877 (GRCm38)	missense	probably damaging	1.00
R1918:Olfr164	UTSW	16	19,286,302 (GRCm38)	missense	probably benign	0.03
R2202:Olfr164	UTSW	16	19,286,297 (GRCm38)	missense	probably benign	0.03
R2265:Olfr164	UTSW	16	19,286,555 (GRCm38)	missense	probably damaging	1.00
R3792:Olfr164	UTSW	16	19,285,946 (GRCm38)	missense	possibly damaging	0.54
R4285:Olfr164	UTSW	16	19,285,964 (GRCm38)	missense	probably damaging	1.00
R4961:Olfr164	UTSW	16	19,285,976 (GRCm38)	missense	probably damaging	1.00
R5022:Olfr164	UTSW	16	19,286,059 (GRCm38)	missense	probably damaging	1.00
R5432:Olfr164	UTSW	16	19,286,089 (GRCm38)	missense	probably benign	0.06
R5827:Olfr164	UTSW	16	19,286,432 (GRCm38)	missense	probably benign	0.24
R6154:Olfr164	UTSW	16	19,286,431 (GRCm38)	missense	probably damaging	0.99
R6188:Olfr164	UTSW	16	19,286,557 (GRCm38)	missense	probably damaging	1.00
R6367:Olfr164	UTSW	16	19,286,072 (GRCm38)	missense	probably damaging	1.00
R8508:Olfr164	UTSW	16	19,286,701 (GRCm38)	missense	probably benign	0.01
R8523:Olfr164	UTSW	16	19,286,101 (GRCm38)	missense	probably benign	0.13
R8902:Olfr164	UTSW	16	19,286,633 (GRCm38)	missense	probably damaging	0.98
R8953:Olfr164	UTSW	16	19,286,519 (GRCm38)	missense	probably benign	0.27
R9313:Olfr164	UTSW	16	19,286,350 (GRCm38)	missense	probably benign	0.00
R9542:Olfr164	UTSW	16	19,286,193 (GRCm38)	missense	probably benign	0.01
R9651:Olfr164	UTSW	16	19,286,739 (GRCm38)	start codon destroyed	probably null

Predicted Primers

PCR Primer
(F):5'- CTGGATTCCACAGCCAACCATG -3'
(R):5'- CAACACTGTGTCATTCTAGCTTGG -3'

Sequencing Primer
(F):5'- GAGCATGAGATCCATGAGAG -3'
(R):5'- GGACCAGGAACTCTGATT -3'

Posted On

2014-06-30