Mutagenetix > Incidental Mutation

Incidental Mutation 'R5237:Or8b54'

398535

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

042808-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5237 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38684384-38687650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38687252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 234 (R234W)

Ref Sequence

ENSEMBL: ENSMUSP00000150844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071681] [ENSMUST00000213958] [ENSMUST00000217114]

AlphaFold

Q7TRC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000062124
AA Change: R234W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051879
Gene: ENSMUSG00000049926
AA Change: R234W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071681
AA Change: R234W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071604
Gene: ENSMUSG00000049926
AA Change: R234W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	9.8e-51	PFAM
Pfam:7tm_1	41	290	1.3e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213958
AA Change: R234W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217114
AA Change: R234W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

100% (76/76)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,349,850 (GRCm39)	W369*	probably null	Het
Adamts3	A	T	5: 89,923,236 (GRCm39)	M190K	probably benign	Het
Adamtsl1	T	C	4: 86,303,906 (GRCm39)		probably null	Het
Adcy1	A	T	11: 7,099,553 (GRCm39)	I678L	probably benign	Het
Agtrap	A	G	4: 148,166,817 (GRCm39)	S27P	probably benign	Het
Ankrd24	C	A	10: 81,478,379 (GRCm39)		probably benign	Het
Atg2a	G	T	19: 6,296,844 (GRCm39)	V383L	probably benign	Het
Ccdc40	T	C	11: 119,150,802 (GRCm39)	V1105A	probably benign	Het
Cenpf	A	T	1: 189,391,730 (GRCm39)	S684T	probably benign	Het
Cog7	A	G	7: 121,550,444 (GRCm39)	L360P	probably damaging	Het
Col12a1	T	A	9: 79,607,544 (GRCm39)	Q428L	probably benign	Het
Col4a1	G	A	8: 11,295,068 (GRCm39)		probably benign	Het
Cpeb2	G	A	5: 43,443,099 (GRCm39)	C930Y	probably damaging	Het
Cul9	T	C	17: 46,854,393 (GRCm39)	D103G	probably benign	Het
Cyb5a	T	G	18: 84,889,689 (GRCm39)	F39L	probably damaging	Het
Cyp2d12	T	A	15: 82,442,207 (GRCm39)		probably null	Het
Dnah7a	A	C	1: 53,486,690 (GRCm39)		probably null	Het
Efcab9	A	T	11: 32,472,832 (GRCm39)	I205K	probably benign	Het
Ezh1	A	G	11: 101,107,819 (GRCm39)		probably null	Het
Galnt6	C	A	15: 100,591,274 (GRCm39)	C610F	probably damaging	Het
Gata4	C	T	14: 63,478,075 (GRCm39)	A175T	probably benign	Het
Gcc1	A	T	6: 28,420,651 (GRCm39)	I222K	probably benign	Het
Gm5591	T	A	7: 38,221,631 (GRCm39)	H146L	probably benign	Het
H2-T23	C	T	17: 36,341,258 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,304,728 (GRCm39)	I3124N	probably benign	Het
Hsf2	C	A	10: 57,382,317 (GRCm39)	D364E	probably benign	Het
Il15ra	A	G	2: 11,738,016 (GRCm39)	T250A	possibly damaging	Het
Large2	T	C	2: 92,197,487 (GRCm39)	E372G	probably benign	Het
Map2	A	G	1: 66,478,169 (GRCm39)		probably benign	Het
Med24	T	C	11: 98,601,609 (GRCm39)	Y524C	probably damaging	Het
Mfsd6l	C	A	11: 68,448,096 (GRCm39)	Q316K	probably benign	Het
Mroh6	T	C	15: 75,757,840 (GRCm39)	T417A	possibly damaging	Het
Mymk	T	C	2: 26,952,200 (GRCm39)	*181W	probably null	Het
Nup210l	A	G	3: 90,087,505 (GRCm39)	T1093A	probably benign	Het
Or10al4	T	A	17: 38,037,268 (GRCm39)	C118S	probably damaging	Het
Or10p1	A	G	10: 129,443,732 (GRCm39)	V206A	probably benign	Het
Or52w1	A	T	7: 105,018,513 (GRCm39)	K327*	probably null	Het
Papola	T	C	12: 105,793,219 (GRCm39)	V513A	probably benign	Het
Pex26	T	A	6: 121,162,806 (GRCm39)	L119Q	probably damaging	Het
Phldb2	T	C	16: 45,568,249 (GRCm39)	I1219V	probably damaging	Het
Plch2	A	G	4: 155,095,251 (GRCm39)	V64A	probably benign	Het
Plekho1	A	G	3: 95,902,937 (GRCm39)	V24A	probably damaging	Het
Pon2	A	C	6: 5,265,455 (GRCm39)	S311A	probably benign	Het
Pramel31	G	T	4: 144,089,041 (GRCm39)	E120*	probably null	Het
Rsrc2	T	C	5: 123,877,645 (GRCm39)		probably benign	Het
Selenov	T	C	7: 27,987,572 (GRCm39)	D295G	probably damaging	Het
Serpina10	T	A	12: 103,595,075 (GRCm39)	Y48F	probably benign	Het
Setbp1	T	A	18: 78,900,190 (GRCm39)	D1159V	possibly damaging	Het
Setx	C	T	2: 29,036,995 (GRCm39)	T1160I	probably benign	Het
Sin3b	A	C	8: 73,459,971 (GRCm39)		probably null	Het
Skint11	A	G	4: 114,102,042 (GRCm39)	K352E	possibly damaging	Het
Slitrk5	T	A	14: 111,919,118 (GRCm39)	V914E	possibly damaging	Het
Srgap1	A	G	10: 121,643,788 (GRCm39)	Y633H	probably damaging	Het
Stard9	A	G	2: 120,529,839 (GRCm39)	D2032G	probably damaging	Het
Sv2c	G	A	13: 96,118,391 (GRCm39)	T486I	possibly damaging	Het
Tesk1	T	C	4: 43,447,100 (GRCm39)	F496S	probably damaging	Het
Tfg	T	A	16: 56,533,071 (GRCm39)	E29D	possibly damaging	Het
Tnc	G	A	4: 63,880,333 (GRCm39)	T2038I	probably damaging	Het
Tor4a	T	G	2: 25,084,976 (GRCm39)	N309T	probably damaging	Het
Trim69	A	G	2: 122,003,821 (GRCm39)	T257A	probably benign	Het
Trpm6	C	T	19: 18,790,828 (GRCm39)	A621V	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r6	A	C	6: 56,980,179 (GRCm39)	Q258H	probably damaging	Het
Vmn2r84	A	G	10: 130,221,863 (GRCm39)	C786R	probably damaging	Het
Xylt2	T	C	11: 94,557,953 (GRCm39)	D638G	probably benign	Het
Zfp934	A	G	13: 62,665,652 (GRCm39)	C330R	probably damaging	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
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
R8195:Or8b54	UTSW	9	38,686,577 (GRCm39)	missense	noncoding transcript
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'- CAACCACTATTTCTGCGATGTC -3'
(R):5'- CCTACTCAAAGTCTTTCTTAGGGC -3'

Sequencing Primer
(F):5'- GATGTCCTCCCTTTGCTGCAG -3'
(R):5'- GTTTCTCAAGCTATAAATTAGGGGG -3'

Posted On

2016-07-06