Mutagenetix > Incidental Mutation

Incidental Mutation 'R0334:Or8b54'

26129

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

038543-MU

Accession Numbers

Essential gene?

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

Stock #

R0334 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

38684384-38687650 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 38686535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150844 (fasta)

Gene Model

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

AlphaFold

Q7TRC0

Predicted Effect

probably null
Transcript: ENSMUST00000062124

SMART Domains

Protein: ENSMUSP00000051879
Gene: ENSMUSG00000049926

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 null
Transcript: ENSMUST00000071681

SMART Domains

Protein: ENSMUSP00000071604
Gene: ENSMUSG00000049926

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 null
Transcript: ENSMUST00000213958

Predicted Effect

probably null
Transcript: ENSMUST00000213958

Predicted Effect

probably null
Transcript: ENSMUST00000217114

Predicted Effect

probably null
Transcript: ENSMUST00000217114

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,508,105 (GRCm39)	N87S	probably benign	Het
Ap2b1	T	C	11: 83,258,700 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,468,029 (GRCm39)	Y1724H	probably damaging	Het
Arhgef10l	G	A	4: 140,311,237 (GRCm39)	Q243*	probably null	Het
Atp8a2	A	T	14: 59,928,961 (GRCm39)	F1031Y	probably damaging	Het
Bmp8b	A	G	4: 123,008,553 (GRCm39)		probably null	Het
Brinp2	G	T	1: 158,123,155 (GRCm39)	T37K	probably benign	Het
Bsph1	T	A	7: 13,184,864 (GRCm39)	L9*	probably null	Het
C6	T	G	15: 4,784,849 (GRCm39)	N238K	probably benign	Het
Cbs	T	C	17: 31,838,130 (GRCm39)	D373G	probably damaging	Het
Clec4a3	T	C	6: 122,946,329 (GRCm39)	F191S	possibly damaging	Het
Cpz	A	G	5: 35,661,025 (GRCm39)	V530A	probably damaging	Het
Ctsc	G	T	7: 87,927,550 (GRCm39)	S47I	possibly damaging	Het
Cyp7b1	T	G	3: 18,157,960 (GRCm39)	Y53S	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Defb4	T	C	8: 19,251,220 (GRCm39)	I29T	probably benign	Het
Disc1	A	T	8: 125,987,836 (GRCm39)		probably null	Het
Dnah2	A	G	11: 69,327,662 (GRCm39)	M3429T	probably damaging	Het
Dnah7a	A	T	1: 53,472,213 (GRCm39)	I3518N	possibly damaging	Het
Dnah8	A	T	17: 31,090,325 (GRCm39)	H4609L	probably damaging	Het
Evi5	C	A	5: 107,968,401 (GRCm39)	C182F	probably damaging	Het
Fam149b	G	A	14: 20,413,492 (GRCm39)	R237H	probably damaging	Het
Fut8	T	A	12: 77,440,536 (GRCm39)	D174E	possibly damaging	Het
Ghr	T	C	15: 3,370,580 (GRCm39)		probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gpr176	T	C	2: 118,110,189 (GRCm39)	S357G	probably benign	Het
Grwd1	A	T	7: 45,476,601 (GRCm39)		probably null	Het
H2-T24	A	G	17: 36,325,772 (GRCm39)	V273A	possibly damaging	Het
Hdac4	A	C	1: 91,883,760 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,895,802 (GRCm39)	T1017A	probably damaging	Het
Hsd11b1	T	C	1: 192,924,476 (GRCm39)		probably benign	Het
Igsf23	T	C	7: 19,675,678 (GRCm39)	S143G	probably benign	Het
Kbtbd12	T	A	6: 88,594,888 (GRCm39)	Y314F	probably damaging	Het
Kcnmb2	A	G	3: 32,252,508 (GRCm39)		probably null	Het
Kdm5b	A	G	1: 134,532,260 (GRCm39)	I479M	probably damaging	Het
Kidins220	A	G	12: 25,058,068 (GRCm39)	T600A	probably damaging	Het
Mrgprb2	A	C	7: 48,202,077 (GRCm39)	I216S	probably damaging	Het
Muc21	A	G	17: 35,933,614 (GRCm39)		probably benign	Het
Myo1g	A	G	11: 6,461,084 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 89,780,412 (GRCm39)		probably null	Het
Or2ag2	A	G	7: 106,485,622 (GRCm39)	V134A	probably benign	Het
Or8g26	A	G	9: 39,095,980 (GRCm39)	I169V	probably benign	Het
Pdia5	A	T	16: 35,284,760 (GRCm39)	S66T	possibly damaging	Het
Plec	T	C	15: 76,062,206 (GRCm39)	E2604G	probably damaging	Het
Plekha6	G	T	1: 133,209,918 (GRCm39)	A654S	probably benign	Het
Pnpla2	G	A	7: 141,039,433 (GRCm39)		probably null	Het
Pramel19	T	C	4: 101,798,781 (GRCm39)	F251L	probably benign	Het
Prb1c	T	A	6: 132,341,021 (GRCm39)	Q17L	unknown	Het
Prkdc	A	G	16: 15,554,663 (GRCm39)	D2128G	probably benign	Het
Rabggta	A	T	14: 55,958,268 (GRCm39)	L131Q	probably damaging	Het
Rbks	A	T	5: 31,781,863 (GRCm39)	Y312*	probably null	Het
Rnf139	A	G	15: 58,771,322 (GRCm39)	Y449C	probably damaging	Het
Sanbr	A	G	11: 23,567,129 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,524,931 (GRCm39)	V1058A	possibly damaging	Het
Sema3a	A	T	5: 13,607,268 (GRCm39)	N321I	probably damaging	Het
Slit3	T	A	11: 35,469,928 (GRCm39)	V310E	probably damaging	Het
Slitrk5	T	C	14: 111,918,256 (GRCm39)	S627P	probably benign	Het
Stat2	T	A	10: 128,113,736 (GRCm39)	F172I	probably damaging	Het
Tchh	C	A	3: 93,352,923 (GRCm39)	R788S	unknown	Het
Tnks	T	A	8: 35,320,413 (GRCm39)	K753*	probably null	Het
Trank1	T	A	9: 111,194,421 (GRCm39)	V815D	probably benign	Het
Trank1	T	A	9: 111,222,008 (GRCm39)	I2915N	probably damaging	Het
Trpc6	T	C	9: 8,610,344 (GRCm39)	S271P	probably damaging	Het
Trpm5	T	C	7: 142,640,613 (GRCm39)	Q213R	probably benign	Het
Ulk3	C	T	9: 57,501,510 (GRCm39)		probably benign	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Wnt3a	A	G	11: 59,147,144 (GRCm39)	S181P	probably damaging	Het
Yipf3	T	C	17: 46,559,238 (GRCm39)	F22S	possibly damaging	Het
Zbtb40	A	T	4: 136,713,867 (GRCm39)	H1094Q	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
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
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'- GGCAACTCTATCCTGCCTATCCCAC -3'
(R):5'- GGCCATTGACACCAGTACATAACATTCA -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- GAGTTGGGACATACATCCCATATAAG -3'

Posted On

2013-04-16