Mutagenetix > Incidental Mutation

Incidental Mutation 'R2919:Or52b1'

255425

Institutional Source

Beutler Lab

Gene Symbol

Or52b1

Ensembl Gene

ENSMUSG00000050266

Gene Name

olfactory receptor family 52 subfamily B member 1

Synonyms

Olfr690, GA_x6K02T2PBJ9-7959171-7958224, MOR31-2

MMRRC Submission

040504-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R2919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104978424-104979485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104979067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 111 (V111M)

Ref Sequence

ENSEMBL: ENSMUSP00000150831 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061920] [ENSMUST00000211006] [ENSMUST00000216230]

AlphaFold

Q8VH18

Predicted Effect

probably damaging
Transcript: ENSMUST00000061920
AA Change: V111M

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

SMART Domains

Protein: ENSMUSP00000061272
Gene: ENSMUSG00000050266
AA Change: V111M

Domain	Start	End	E-Value	Type
transmembrane domain	2	19	N/A	INTRINSIC
Pfam:7tm_4	33	312	2e-110	PFAM
Pfam:7TM_GPCR_Srsx	37	264	1.4e-9	PFAM
Pfam:7tm_1	43	294	1.7e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209868

Predicted Effect

probably damaging
Transcript: ENSMUST00000211006
AA Change: V111M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216230
AA Change: V111M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (53/54)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,122,001 (GRCm39)	R27H	probably benign	Het
2310002L09Rik	A	T	4: 73,868,845 (GRCm39)	L31Q	probably damaging	Het
Agbl1	G	A	7: 76,064,406 (GRCm39)	D53N	probably damaging	Het
Aloxe3	C	T	11: 69,033,749 (GRCm39)	T621I	probably damaging	Het
Als2cl	A	T	9: 110,726,567 (GRCm39)		probably null	Het
Atg9b	T	A	5: 24,596,542 (GRCm39)	T125S	possibly damaging	Het
Casp8ap2	A	G	4: 32,645,343 (GRCm39)	D1472G	probably damaging	Het
Cd1d2	C	G	3: 86,894,987 (GRCm39)	P158A	probably damaging	Het
Cdc45	A	G	16: 18,627,543 (GRCm39)	I94T	probably benign	Het
Chd6	T	G	2: 160,809,800 (GRCm39)	D1487A	possibly damaging	Het
Edem2	T	C	2: 155,550,947 (GRCm39)	Y340C	probably damaging	Het
Fbxl12	C	T	9: 20,553,509 (GRCm39)	R26H	probably damaging	Het
Fgfr3	A	G	5: 33,891,284 (GRCm39)	N516S	probably damaging	Het
Gm5884	A	G	6: 128,622,021 (GRCm39)		noncoding transcript	Het
Hdac1-ps	A	G	17: 78,800,275 (GRCm39)	D422G	probably damaging	Het
Inpp4b	C	A	8: 82,711,958 (GRCm39)	A425E	possibly damaging	Het
Kif1a	A	G	1: 92,974,464 (GRCm39)	Y964H	probably damaging	Het
Lrp1b	A	C	2: 41,660,911 (GRCm39)	C66G	probably damaging	Het
Lrp4	A	G	2: 91,321,075 (GRCm39)	I1034V	probably benign	Het
Meak7	G	A	8: 120,495,056 (GRCm39)	A234V	probably benign	Het
Mmrn2	T	C	14: 34,124,879 (GRCm39)	V820A	possibly damaging	Het
Mphosph9	G	A	5: 124,399,069 (GRCm39)	T982I	probably benign	Het
Mroh9	A	C	1: 162,884,341 (GRCm39)	M399R	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
N4bp2	G	A	5: 65,964,441 (GRCm39)	G830D	probably benign	Het
Nagpa	G	A	16: 5,021,651 (GRCm39)		probably benign	Het
Or5g23	G	A	2: 85,438,754 (GRCm39)	P167S	probably benign	Het
Oxgr1	T	A	14: 120,260,221 (GRCm39)		probably benign	Het
Parp3	T	A	9: 106,350,924 (GRCm39)	R323W	possibly damaging	Het
Pfkfb3	C	T	2: 11,489,138 (GRCm39)	V286I	probably benign	Het
Pfkp	C	T	13: 6,643,279 (GRCm39)	G513D	probably damaging	Het
Pla2g4d	T	C	2: 120,112,108 (GRCm39)		probably benign	Het
Rtl1	T	C	12: 109,557,582 (GRCm39)	E1419G	unknown	Het
Sdf2	G	C	11: 78,145,680 (GRCm39)	V126L	probably damaging	Het
Sgk2	T	G	2: 162,841,115 (GRCm39)	L175R	probably damaging	Het
Sgk2	C	A	2: 162,841,125 (GRCm39)	F178L	probably damaging	Het
Sim1	T	C	10: 50,785,911 (GRCm39)	Y255H	probably benign	Het
Slc13a5	T	C	11: 72,138,617 (GRCm39)	E442G	possibly damaging	Het
Slc38a3	A	T	9: 107,534,886 (GRCm39)	I163N	probably damaging	Het
Slc39a4	A	G	15: 76,500,870 (GRCm39)	L31P	probably damaging	Het
Slc5a11	GGTGC	G	7: 122,838,595 (GRCm39)		probably null	Het
Slfnl1	G	T	4: 120,390,275 (GRCm39)		probably benign	Het
Stradb	G	A	1: 59,031,828 (GRCm39)	V247M	probably benign	Het
Styk1	T	A	6: 131,289,967 (GRCm39)		probably benign	Het
Sult1d1	A	G	5: 87,707,614 (GRCm39)		probably benign	Het
Syk	C	T	13: 52,765,157 (GRCm39)	P95S	probably benign	Het
Taar2	T	A	10: 23,817,454 (GRCm39)	N331K	probably benign	Het
Thsd7b	A	G	1: 130,117,587 (GRCm39)		probably benign	Het
Tmbim7	G	A	5: 3,723,188 (GRCm39)		probably null	Het
Tmem107	T	C	11: 68,962,247 (GRCm39)	L68P	probably damaging	Het
Tmem184c	A	T	8: 78,331,276 (GRCm39)	C158S	probably damaging	Het
Tmpo	A	G	10: 90,988,548 (GRCm39)	I310T	probably benign	Het
Ugt2b5	A	G	5: 87,273,266 (GRCm39)	F467L	possibly damaging	Het
Xirp1	T	C	9: 119,847,767 (GRCm39)	E372G	possibly damaging	Het
Zbtb5	T	C	4: 44,994,790 (GRCm39)	E198G	probably damaging	Het
Zfp804a	A	G	2: 82,066,160 (GRCm39)	N44D	probably damaging	Het

Other mutations in Or52b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Or52b1	APN	7	104,978,589 (GRCm39)	missense	possibly damaging	0.95
IGL01403:Or52b1	APN	7	104,978,605 (GRCm39)	missense	probably benign	0.01
IGL01546:Or52b1	APN	7	104,978,899 (GRCm39)	missense	probably damaging	1.00
IGL02936:Or52b1	APN	7	104,979,212 (GRCm39)	nonsense	probably null
R0206:Or52b1	UTSW	7	104,979,090 (GRCm39)	missense	possibly damaging	0.76
R0206:Or52b1	UTSW	7	104,979,090 (GRCm39)	missense	possibly damaging	0.76
R1425:Or52b1	UTSW	7	104,978,922 (GRCm39)	missense	probably damaging	1.00
R1911:Or52b1	UTSW	7	104,978,590 (GRCm39)	missense	probably benign	0.11
R2126:Or52b1	UTSW	7	104,978,459 (GRCm39)	nonsense	probably null
R2511:Or52b1	UTSW	7	104,978,817 (GRCm39)	missense	probably damaging	1.00
R3755:Or52b1	UTSW	7	104,979,358 (GRCm39)	missense	probably damaging	1.00
R4152:Or52b1	UTSW	7	104,978,592 (GRCm39)	missense	probably damaging	1.00
R4153:Or52b1	UTSW	7	104,978,592 (GRCm39)	missense	probably damaging	1.00
R4154:Or52b1	UTSW	7	104,978,592 (GRCm39)	missense	probably damaging	1.00
R4247:Or52b1	UTSW	7	104,979,355 (GRCm39)	missense	probably benign
R5015:Or52b1	UTSW	7	104,978,811 (GRCm39)	missense	possibly damaging	0.61
R5143:Or52b1	UTSW	7	104,978,731 (GRCm39)	missense	probably damaging	1.00
R5642:Or52b1	UTSW	7	104,978,772 (GRCm39)	missense	probably damaging	1.00
R6747:Or52b1	UTSW	7	104,979,234 (GRCm39)	missense	probably benign	0.00
R6961:Or52b1	UTSW	7	104,978,913 (GRCm39)	missense	probably damaging	1.00
R7074:Or52b1	UTSW	7	104,978,475 (GRCm39)	missense	probably benign	0.44
R8066:Or52b1	UTSW	7	104,978,761 (GRCm39)	missense	possibly damaging	0.87
R9273:Or52b1	UTSW	7	104,978,646 (GRCm39)	missense	probably damaging	1.00
R9314:Or52b1	UTSW	7	104,979,081 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGACAGCCTCTTCAGCAG -3'
(R):5'- TACATTGCTGCAGTCTTGGG -3'

Sequencing Primer
(F):5'- GCCTCTTCAGCAGAAATATGATAGG -3'
(R):5'- TTGTCCTGAGTGAACGCAC -3'

Posted On

2014-12-29