Mutagenetix > Incidental Mutation

Incidental Mutation 'R9273:Or52b1'

703093

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

Accession Numbers

Essential gene?

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

Stock #

R9273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104978424-104979485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104978646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 251 (L251P)

Ref Sequence

ENSEMBL: ENSMUSP00000147414 (fasta)

Gene Model

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

AlphaFold

Q8VH18

Predicted Effect

probably damaging
Transcript: ENSMUST00000061920
AA Change: L251P

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

SMART Domains

Protein: ENSMUSP00000061272
Gene: ENSMUSG00000050266
AA Change: L251P

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

probably damaging
Transcript: ENSMUST00000211006
AA Change: L251P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216230
AA Change: L251P

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,033,232 (GRCm39)	D728G	probably benign	Het
Adig	A	T	2: 158,347,727 (GRCm39)	D48V	probably damaging	Het
Adig	A	C	2: 158,349,890 (GRCm39)	*57S	probably null	Het
Amigo3	A	G	9: 107,932,020 (GRCm39)	D481G	probably damaging	Het
Atf6b	T	A	17: 34,872,968 (GRCm39)	M628K	probably damaging	Het
Atoh8	A	G	6: 72,212,129 (GRCm39)	L7P	probably damaging	Het
Bcl9	A	G	3: 97,115,959 (GRCm39)	S912P	probably damaging	Het
Card9	T	A	2: 26,247,310 (GRCm39)	I280F	probably damaging	Het
Ccr9	A	G	9: 123,609,085 (GRCm39)	T256A	probably benign	Het
Cd300lg	T	C	11: 101,939,590 (GRCm39)	I306T	probably damaging	Het
Cfap65	T	A	1: 74,960,769 (GRCm39)	M734L	probably benign	Het
Cobll1	A	G	2: 64,929,356 (GRCm39)	S657P	probably damaging	Het
Comp	A	G	8: 70,831,285 (GRCm39)	N384S	probably damaging	Het
Cps1	T	A	1: 67,191,445 (GRCm39)	V209D	possibly damaging	Het
Cwc22	A	T	2: 77,759,803 (GRCm39)	D81E	possibly damaging	Het
D630045J12Rik	G	A	6: 38,167,512 (GRCm39)	P1030L	possibly damaging	Het
Dcn	A	G	10: 97,343,637 (GRCm39)	Y199C	probably damaging	Het
Exosc3	A	T	4: 45,316,969 (GRCm39)	I228N	probably damaging	Het
Fbxo10	T	C	4: 45,062,178 (GRCm39)	H116R	probably benign	Het
Fbxo21	T	A	5: 118,146,108 (GRCm39)	I577N	probably damaging	Het
Flnc	A	T	6: 29,447,815 (GRCm39)	Q1206L	probably benign	Het
Fubp3	T	C	2: 31,503,056 (GRCm39)	F480L	probably benign	Het
Fzd5	T	C	1: 64,775,110 (GRCm39)	N217S	possibly damaging	Het
Garem1	G	A	18: 21,281,274 (GRCm39)	R361C	probably damaging	Het
Gcg	T	C	2: 62,306,133 (GRCm39)	M155V	probably null	Het
Gm7298	G	A	6: 121,756,604 (GRCm39)		probably benign	Het
Gpr160	T	A	3: 30,950,038 (GRCm39)	L37I	probably benign	Het
Grik1	G	A	16: 87,848,379 (GRCm39)	H130Y		Het
Hydin	T	A	8: 111,233,580 (GRCm39)	I1806N	probably damaging	Het
Isl1	A	T	13: 116,444,902 (GRCm39)	C42*	probably null	Het
Itpr2	T	C	6: 146,226,529 (GRCm39)	D1405G	probably damaging	Het
Kat6b	A	G	14: 21,711,551 (GRCm39)	N682D	probably benign	Het
Kcnh6	C	G	11: 105,924,860 (GRCm39)	H941Q	possibly damaging	Het
Kprp	A	C	3: 92,733,000 (GRCm39)	C17G	probably damaging	Het
Lsm14a	T	C	7: 34,088,225 (GRCm39)		probably benign	Het
Mrgpra2a	G	T	7: 47,076,307 (GRCm39)	T317K	probably benign	Het
Myh11	A	G	16: 14,054,283 (GRCm39)	V360A		Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Oaf	G	A	9: 43,133,966 (GRCm39)	P252S	probably benign	Het
Obox2	T	G	7: 15,131,290 (GRCm39)	V132G	unknown	Het
Or51v8	T	A	7: 103,319,633 (GRCm39)	T202S	probably benign	Het
Or5b109	C	T	19: 13,212,268 (GRCm39)	S218L	probably damaging	Het
Or5b12	T	C	19: 12,897,446 (GRCm39)	T76A	possibly damaging	Het
Pld2	T	A	11: 70,448,234 (GRCm39)	S894T	probably benign	Het
Plxna1	G	T	6: 89,296,364 (GRCm39)	S1893R	possibly damaging	Het
Prkd1	T	C	12: 50,472,232 (GRCm39)	E227G	possibly damaging	Het
Prox1	T	C	1: 189,893,242 (GRCm39)	N401S	possibly damaging	Het
Prune2	T	C	19: 17,095,690 (GRCm39)	V398A	possibly damaging	Het
Rasgef1a	A	G	6: 118,063,223 (GRCm39)	N285D	probably benign	Het
Rbbp5	A	G	1: 132,420,304 (GRCm39)	K179R	probably benign	Het
Rp9	G	A	9: 22,379,573 (GRCm39)		probably benign	Het
Slc15a2	A	G	16: 36,574,090 (GRCm39)	F588L	probably benign	Het
Sptan1	T	A	2: 29,880,977 (GRCm39)	D415E	possibly damaging	Het
Syne1	T	C	10: 4,990,901 (GRCm39)	K593E	probably benign	Het
Tab1	A	G	15: 80,041,904 (GRCm39)	T341A	probably benign	Het
Tmc4	T	C	7: 3,670,552 (GRCm39)	E513G	probably damaging	Het
Tmem131l	A	C	3: 83,848,244 (GRCm39)	V302G	probably damaging	Het
Tnip1	G	A	11: 54,807,783 (GRCm39)	H553Y	possibly damaging	Het
Tns2	C	T	15: 102,021,478 (GRCm39)	P1048S	probably damaging	Het
Twsg1	C	T	17: 66,233,306 (GRCm39)	V215I	probably damaging	Het
Txnl1	G	A	18: 63,825,325 (GRCm39)		probably benign	Het
Unc13c	A	G	9: 73,839,862 (GRCm39)	Y330H	possibly damaging	Het
Utrn	A	T	10: 12,509,707 (GRCm39)	W2422R	probably damaging	Het
Vmn2r112	T	A	17: 22,837,721 (GRCm39)	D727E	probably damaging	Het
Vmn2r59	G	T	7: 41,695,286 (GRCm39)	C375*	probably null	Het
Vopp1	G	T	6: 57,731,575 (GRCm39)	Q139K	possibly damaging	Het
Vwa5b1	T	C	4: 138,316,005 (GRCm39)	D579G	probably damaging	Het
Wdr6	A	G	9: 108,450,691 (GRCm39)	Y971H	probably benign	Het
Zfp354c	A	G	11: 50,706,059 (GRCm39)	F339L	probably damaging	Het
Zfyve26	A	G	12: 79,317,610 (GRCm39)		probably null	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
R2919:Or52b1	UTSW	7	104,979,067 (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
R9314:Or52b1	UTSW	7	104,979,081 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACTGTGACTGCTCTCAAGAC -3'
(R):5'- ATTGGCTTGTGCTGACATCAC -3'

Sequencing Primer
(F):5'- GTGACTGCTCTCAAGACTTCCAC -3'
(R):5'- CATCACTGTCAATATCTGGTATGGC -3'

Posted On

2022-03-25