Mutagenetix > Incidental Mutation

Incidental Mutation 'R4761:Or8b54'

356887

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

042402-MU

Accession Numbers

Essential gene?

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

Stock #

R4761 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38684384-38687650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38687133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 194 (V194A)

Ref Sequence

ENSEMBL: ENSMUSP00000150844 (fasta)

Gene Model

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

AlphaFold

Q7TRC0

Predicted Effect

probably benign
Transcript: ENSMUST00000062124
AA Change: V194A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000051879
Gene: ENSMUSG00000049926
AA Change: V194A

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 benign
Transcript: ENSMUST00000071681
AA Change: V194A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000071604
Gene: ENSMUSG00000049926
AA Change: V194A

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 benign
Transcript: ENSMUST00000213958
AA Change: V194A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000217114
AA Change: V194A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (69/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	G	9: 101,820,165 (GRCm39)	D195G	possibly damaging	Het
Abcc8	G	A	7: 45,762,499 (GRCm39)	R1221C	probably damaging	Het
Adra1a	T	A	14: 66,964,880 (GRCm39)		probably null	Het
Akr1c6	A	T	13: 4,497,010 (GRCm39)	M98L	probably benign	Het
Alpk3	A	G	7: 80,753,916 (GRCm39)	Q1632R	probably damaging	Het
Arhgap24	G	T	5: 102,812,080 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,308,504 (GRCm39)	*40W	probably null	Het
Bdkrb2	A	T	12: 105,554,537 (GRCm39)	M17L	probably benign	Het
C4bp	T	C	1: 130,581,158 (GRCm39)	K117R	possibly damaging	Het
Cacng3	A	T	7: 122,367,887 (GRCm39)	T256S	probably benign	Het
Cep63	T	C	9: 102,464,240 (GRCm39)		probably benign	Het
Ces2b	T	A	8: 105,563,193 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,564,592 (GRCm39)	D1696V	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcst1	A	T	3: 89,264,860 (GRCm39)	M296K	possibly damaging	Het
Ehbp1l1	G	A	19: 5,769,875 (GRCm39)	P476L	possibly damaging	Het
Enpp1	A	G	10: 24,517,849 (GRCm39)	V858A	possibly damaging	Het
Ermp1	T	A	19: 29,623,656 (GRCm39)	E55D	probably benign	Het
Eya1	G	A	1: 14,373,045 (GRCm39)	L25F	probably damaging	Het
Foxn2	T	A	17: 88,770,136 (GRCm39)		probably null	Het
Gabrb3	A	T	7: 57,415,250 (GRCm39)	T107S	probably damaging	Het
Gm26678	A	T	3: 54,540,564 (GRCm39)		noncoding transcript	Het
Gm7897	G	T	1: 173,657,536 (GRCm39)		noncoding transcript	Het
Gm9789	A	T	16: 88,954,915 (GRCm39)	Y8F	unknown	Het
Gsta3	A	T	1: 21,330,381 (GRCm39)	T78S	probably benign	Het
H2-Ab1	A	G	17: 34,486,474 (GRCm39)	N178D	probably damaging	Het
Herc6	G	A	6: 57,639,885 (GRCm39)	V1000I	probably benign	Het
Hrnr	A	C	3: 93,230,062 (GRCm39)	K100T	probably damaging	Het
Ift57	T	C	16: 49,522,263 (GRCm39)	F2L	probably damaging	Het
Iqca1l	A	G	5: 24,756,981 (GRCm39)	V232A	probably benign	Het
Kmt2a	C	A	9: 44,760,421 (GRCm39)	R509L	probably damaging	Het
Lefty1	T	A	1: 180,765,190 (GRCm39)	C253S	probably benign	Het
Lhx3	TCCTACGGGCCGGCCC	TCC	2: 26,091,435 (GRCm39)		probably null	Het
Mfsd9	T	C	1: 40,813,635 (GRCm39)	K227E	possibly damaging	Het
Mrps2	C	G	2: 28,359,946 (GRCm39)	H268D	probably benign	Het
Mrps27	T	A	13: 99,548,739 (GRCm39)	S292T	probably benign	Het
Ncaph	T	C	2: 126,948,036 (GRCm39)	D683G	probably benign	Het
Nlrc3	A	T	16: 3,781,514 (GRCm39)	S632T	probably damaging	Het
Nsun6	T	C	2: 15,034,872 (GRCm39)	T198A	possibly damaging	Het
Oasl2	C	T	5: 115,037,836 (GRCm39)	H78Y	probably benign	Het
Pcsk5	T	C	19: 17,814,512 (GRCm39)	D2G	possibly damaging	Het
Pdgfrb	C	A	18: 61,212,772 (GRCm39)	S892Y	probably damaging	Het
Phf8-ps	A	T	17: 33,286,172 (GRCm39)	V210D	probably damaging	Het
Por	T	G	5: 135,754,784 (GRCm39)		probably benign	Het
Ppp2r5e	A	T	12: 75,640,035 (GRCm39)	V22D	possibly damaging	Het
Prcp	A	G	7: 92,566,933 (GRCm39)		probably null	Het
Ptchd3	A	T	11: 121,727,224 (GRCm39)	N366I	possibly damaging	Het
Rprd1b	A	G	2: 157,889,890 (GRCm39)	E4G	probably damaging	Het
Semp2l1	A	T	1: 32,585,588 (GRCm39)	S107R	possibly damaging	Het
Serpinb6d	C	A	13: 33,855,250 (GRCm39)	S308Y	probably damaging	Het
Slc12a7	T	C	13: 73,961,708 (GRCm39)	V1026A	probably benign	Het
Slc17a7	G	A	7: 44,820,408 (GRCm39)	V313I	probably benign	Het
Slc35c1	T	A	2: 92,289,168 (GRCm39)	M113L	probably damaging	Het
Smgc	A	G	15: 91,729,717 (GRCm39)	T178A	possibly damaging	Het
Spef2	A	T	15: 9,653,040 (GRCm39)	W914R	probably damaging	Het
Srfbp1	C	A	18: 52,621,638 (GRCm39)	P233Q	probably damaging	Het
Swt1	A	C	1: 151,276,853 (GRCm39)	C508G	probably benign	Het
Tex22	T	C	12: 113,052,386 (GRCm39)	V148A	possibly damaging	Het
Tle7	A	T	8: 110,836,753 (GRCm39)	D213V	probably damaging	Het
Tpd52	G	A	3: 9,028,933 (GRCm39)	P37L	probably damaging	Het
Utp25	T	C	1: 192,796,230 (GRCm39)	Y145C	probably damaging	Het
Vmn1r197	A	T	13: 22,512,174 (GRCm39)	M32L	probably benign	Het
Vmn2r100	T	C	17: 19,741,630 (GRCm39)	F114S	possibly damaging	Het
Xdh	T	A	17: 74,217,262 (GRCm39)	I669F	possibly damaging	Het
Zfp940	G	A	7: 29,545,578 (GRCm39)	R110C	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
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'- ATGTCCCCAAGGGTGTGTTC -3'
(R):5'- CCTTGATCAATAGATACAGCAGAGG -3'

Sequencing Primer
(F):5'- CCCAAGGGTGTGTTCTTATCTCATG -3'
(R):5'- GGTTTCAGGTACATGAATCCAC -3'

Posted On

2015-11-11