Mutagenetix > Incidental Mutation

Incidental Mutation 'R8195:Or8b54'

635403

Institutional Source

Beutler Lab

Gene Symbol

Or8b54

Ensembl Gene

ENSMUSG00000049926

Gene Name

olfactory receptor family 8 subfamily B member 54

Synonyms

MOR165-8, GA_x6K02T2PVTD-32478047-32478988, Olfr921

MMRRC Submission

067618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R8195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38684384-38687650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38686577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 9 (V9M)

Gene Model

predicted gene model for transcript(s):

AlphaFold

Q7TRC0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000062124
AA Change: V9M

SMART Domains

Protein: ENSMUSP00000051879
Gene: ENSMUSG00000049926
AA Change: V9M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.8e-48	PFAM
Pfam:7tm_1	41	290	6.3e-23	PFAM

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,224,735 (GRCm39)	G483R	probably benign	Het
Abca9	T	C	11: 110,029,155 (GRCm39)	D801G	probably benign	Het
Aldob	T	C	4: 49,538,822 (GRCm39)	N232S	probably damaging	Het
Ankhd1	T	C	18: 36,787,230 (GRCm39)	V322A		Het
Arfgef1	T	C	1: 10,243,478 (GRCm39)	K1024E	probably damaging	Het
Arhgef40	T	A	14: 52,226,226 (GRCm39)	V90E	probably damaging	Het
Cblc	A	T	7: 19,519,262 (GRCm39)	S399R	possibly damaging	Het
Ccdc17	T	A	4: 116,456,211 (GRCm39)	I368K	possibly damaging	Het
Ccdc17	T	A	4: 116,456,213 (GRCm39)	W369R	probably damaging	Het
Cd276	G	A	9: 58,444,755 (GRCm39)	T72I	probably damaging	Het
Cdk14	C	T	5: 5,277,159 (GRCm39)		probably null	Het
Cfap61	C	T	2: 145,789,095 (GRCm39)	S33L	probably benign	Het
Cmtm2a	A	G	8: 105,019,670 (GRCm39)	F7L	probably benign	Het
Eif2ak4	T	C	2: 118,280,819 (GRCm39)	I1062T	possibly damaging	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Fxr1	A	T	3: 34,101,878 (GRCm39)	E204V	probably damaging	Het
Fzd6	T	A	15: 38,894,959 (GRCm39)	L375Q	probably damaging	Het
Ggta1	T	A	2: 35,312,279 (GRCm39)	E33V	probably damaging	Het
Gnb1l	T	A	16: 18,362,965 (GRCm39)	I119N	probably benign	Het
Gpsm1	A	G	2: 26,214,929 (GRCm39)		probably null	Het
Hecw1	A	G	13: 14,480,692 (GRCm39)	I885T	probably damaging	Het
Itgb8	T	C	12: 119,131,905 (GRCm39)	D580G	probably damaging	Het
Kbtbd12	T	A	6: 88,594,913 (GRCm39)	T306S	possibly damaging	Het
Kctd1	C	T	18: 15,196,300 (GRCm39)	E108K	unknown	Het
Lrrc36	A	G	8: 106,178,717 (GRCm39)	D304G	possibly damaging	Het
Lrrn2	A	G	1: 132,865,082 (GRCm39)	E49G	probably damaging	Het
Lysmd2	C	A	9: 75,533,310 (GRCm39)	Y88*	probably null	Het
Lzts3	A	G	2: 130,477,105 (GRCm39)	S448P	probably benign	Het
Meioc	T	A	11: 102,565,893 (GRCm39)	L447*	probably null	Het
Mybpc1	A	G	10: 88,394,553 (GRCm39)	I244T	possibly damaging	Het
Necab3	G	A	2: 154,389,363 (GRCm39)	A160V	probably benign	Het
Nek8	G	T	11: 78,061,587 (GRCm39)	P314Q	possibly damaging	Het
Nlrp5	A	G	7: 23,112,762 (GRCm39)	T140A	probably benign	Het
Or10p21	T	C	10: 128,847,444 (GRCm39)	C97R	probably damaging	Het
Or52ac1	A	T	7: 104,246,133 (GRCm39)	F85Y	probably damaging	Het
Or7e169	A	T	9: 19,757,780 (GRCm39)	I45N	probably damaging	Het
Pgm3	G	A	9: 86,452,374 (GRCm39)	R29W	probably damaging	Het
Ppp2r3d	A	G	9: 101,090,231 (GRCm39)	C31R	probably damaging	Het
Prom1	C	T	5: 44,194,770 (GRCm39)	S334N	possibly damaging	Het
Rai14	C	T	15: 10,575,302 (GRCm39)	S581N	probably benign	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rgs16	T	C	1: 153,616,689 (GRCm39)	F42S	probably benign	Het
Slc2a6	T	G	2: 26,917,838 (GRCm39)	E27A	probably benign	Het
Slc38a1	G	A	15: 96,490,447 (GRCm39)	S110L	probably benign	Het
Sox30	C	T	11: 45,882,592 (GRCm39)	R541C	probably benign	Het
Sptbn4	C	A	7: 27,108,314 (GRCm39)	E703*	probably null	Het
Tjp1	A	T	7: 64,993,470 (GRCm39)	F34L	probably damaging	Het
Trim65	T	C	11: 116,017,037 (GRCm39)	Q475R	probably benign	Het
Ttc38	A	T	15: 85,728,716 (GRCm39)	R223*	probably null	Het
Tulp1	T	C	17: 28,583,300 (GRCm39)	Q80R	probably benign	Het
Utp23	T	C	15: 51,745,598 (GRCm39)	F139L	possibly damaging	Het
Vmn1r121	A	T	7: 20,832,228 (GRCm39)	F71I	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zdbf2	T	C	1: 63,343,225 (GRCm39)	S535P	possibly damaging	Het
Zfp788	T	G	7: 41,298,801 (GRCm39)	M479R	probably benign	Het

Other mutations in Or8b54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Or8b54	APN	9	38,687,108 (GRCm39)	nonsense	probably null
IGL01016:Or8b54	APN	9	38,686,737 (GRCm39)	missense	probably damaging	0.99
IGL01391:Or8b54	APN	9	38,686,826 (GRCm39)	missense	probably damaging	1.00
IGL01451:Or8b54	APN	9	38,687,225 (GRCm39)	missense	probably benign	0.04
IGL02250:Or8b54	APN	9	38,686,850 (GRCm39)	missense	probably damaging	1.00
R0026:Or8b54	UTSW	9	38,686,892 (GRCm39)	missense	probably benign	0.01
R0334:Or8b54	UTSW	9	38,686,535 (GRCm39)	critical splice acceptor site	probably null
R0655:Or8b54	UTSW	9	38,686,850 (GRCm39)	nonsense	probably null
R1024:Or8b54	UTSW	9	38,686,631 (GRCm39)	missense	probably damaging	0.97
R3522:Or8b54	UTSW	9	38,687,016 (GRCm39)	missense	possibly damaging	0.67
R3967:Or8b54	UTSW	9	38,686,664 (GRCm39)	missense	probably benign	0.09
R3968:Or8b54	UTSW	9	38,686,664 (GRCm39)	missense	probably benign	0.09
R3969:Or8b54	UTSW	9	38,686,664 (GRCm39)	missense	probably benign	0.09
R4761:Or8b54	UTSW	9	38,687,133 (GRCm39)	missense	probably benign	0.05
R4796:Or8b54	UTSW	9	38,686,670 (GRCm39)	missense	probably benign	0.15
R4880:Or8b54	UTSW	9	38,686,843 (GRCm39)	nonsense	probably null
R5237:Or8b54	UTSW	9	38,687,252 (GRCm39)	missense	probably damaging	1.00
R5756:Or8b54	UTSW	9	38,686,554 (GRCm39)	start codon destroyed	probably null	1.00
R6230:Or8b54	UTSW	9	38,687,073 (GRCm39)	missense	possibly damaging	0.94
R6487:Or8b54	UTSW	9	38,686,731 (GRCm39)	missense	probably damaging	1.00
R7514:Or8b54	UTSW	9	38,686,974 (GRCm39)	missense	probably damaging	1.00
R7573:Or8b54	UTSW	9	38,686,791 (GRCm39)	missense	probably damaging	1.00
R7755:Or8b54	UTSW	9	38,687,073 (GRCm39)	missense	possibly damaging	0.94
R8196:Or8b54	UTSW	9	38,686,577 (GRCm39)	missense	noncoding transcript
R8197:Or8b54	UTSW	9	38,686,577 (GRCm39)	missense	noncoding transcript
R8199:Or8b54	UTSW	9	38,686,577 (GRCm39)	missense	noncoding transcript
R8211:Or8b54	UTSW	9	38,686,577 (GRCm39)	missense	noncoding transcript
R8212:Or8b54	UTSW	9	38,686,577 (GRCm39)	missense	noncoding transcript
R8236:Or8b54	UTSW	9	38,686,577 (GRCm39)	missense	noncoding transcript
R8239:Or8b54	UTSW	9	38,686,577 (GRCm39)	missense	noncoding transcript
R8279:Or8b54	UTSW	9	38,686,577 (GRCm39)	missense	noncoding transcript
R8282:Or8b54	UTSW	9	38,686,577 (GRCm39)	missense	noncoding transcript
R8283:Or8b54	UTSW	9	38,686,577 (GRCm39)	missense	noncoding transcript
R9207:Or8b54	UTSW	9	38,686,960 (GRCm39)	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- ACAAGCTATTCGGAAATTTCATCC -3'
(R):5'- CATAGGCCATTGACACCAGTAC -3'

Sequencing Primer
(F):5'- GCTATTCGGAAATTTCATCCTGAGC -3'
(R):5'- AAGTAGAGTTGGGACATACATCC -3'

Posted On

2020-07-13