Mutagenetix > Incidental Mutation

Incidental Mutation 'R7462:Or52b2'

578504

Institutional Source

Beutler Lab

Gene Symbol

Or52b2

Ensembl Gene

ENSMUSG00000043948

Gene Name

olfactory receptor family 52 subfamily B member 2

Synonyms

MOR31-6, Olfr691, GA_x6K02T2PBJ9-7966695-7965727

MMRRC Submission

045536-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R7462 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104985953-104986921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104986707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 72 (D72V)

Ref Sequence

ENSEMBL: ENSMUSP00000150297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057528] [ENSMUST00000211006] [ENSMUST00000213290] [ENSMUST00000216230]

AlphaFold

Q8VGW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000057528
AA Change: D72V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061078
Gene: ENSMUSG00000043948
AA Change: D72V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	1e-112	PFAM
Pfam:7TM_GPCR_Srsx	37	291	1.3e-10	PFAM
Pfam:7tm_1	43	294	3.7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211006

Predicted Effect

probably damaging
Transcript: ENSMUST00000213290
AA Change: D72V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216230

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	G	C	3: 126,736,683 (GRCm39)	T3067S	unknown	Het
Ankrd28	T	C	14: 31,500,886 (GRCm39)	N35S	probably benign	Het
Bicra	A	T	7: 15,713,060 (GRCm39)	S996T	possibly damaging	Het
Btbd7	T	C	12: 102,803,981 (GRCm39)	E353G	possibly damaging	Het
Cdhr2	A	T	13: 54,874,552 (GRCm39)	I875F	probably damaging	Het
Ceacam5	A	T	7: 17,494,764 (GRCm39)	Y924F	probably damaging	Het
Clca4b	A	G	3: 144,628,621 (GRCm39)	I362T	probably benign	Het
Dchs2	A	G	3: 83,253,462 (GRCm39)		probably null	Het
Dlc1	T	A	8: 37,405,118 (GRCm39)	T224S	unknown	Het
Dmxl2	T	C	9: 54,273,916 (GRCm39)		probably null	Het
Dnajc1	A	G	2: 18,313,710 (GRCm39)	F137S	probably damaging	Het
E130311K13Rik	T	C	3: 63,836,722 (GRCm39)	T24A	probably benign	Het
Eya1	T	C	1: 14,301,638 (GRCm39)	E317G	probably null	Het
Fpr-rs6	A	G	17: 20,402,485 (GRCm39)	L292P	probably damaging	Het
Gca	G	T	2: 62,502,753 (GRCm39)	D54Y	possibly damaging	Het
Gm45861	G	A	8: 28,024,517 (GRCm39)		probably null	Het
Gm57858	T	A	3: 36,080,055 (GRCm39)		probably null	Het
Gtf2a1l	A	G	17: 89,001,566 (GRCm39)	T141A	possibly damaging	Het
Hgsnat	T	C	8: 26,447,241 (GRCm39)	N351S	probably benign	Het
Htr1f	A	T	16: 64,746,383 (GRCm39)	V303E	probably damaging	Het
Iars2	C	A	1: 185,055,063 (GRCm39)	W302L	probably damaging	Het
Igkv4-74	T	A	6: 69,162,100 (GRCm39)	Q23L	possibly damaging	Het
Il18	A	T	9: 50,476,673 (GRCm39)		probably benign	Het
Ints4	A	G	7: 97,155,335 (GRCm39)	D329G	probably benign	Het
Itsn1	T	C	16: 91,650,073 (GRCm39)	F249S	possibly damaging	Het
Ktn1	A	G	14: 47,932,089 (GRCm39)	E672G	probably null	Het
Lhx6	A	G	2: 35,974,083 (GRCm39)	I359T	possibly damaging	Het
Lrp1b	T	C	2: 41,003,041 (GRCm39)	E2030G		Het
Macf1	T	A	4: 123,386,556 (GRCm39)	K1114N	probably damaging	Het
Mbd5	A	G	2: 49,147,892 (GRCm39)	M701V	possibly damaging	Het
Mcemp1	A	T	8: 3,717,065 (GRCm39)	M69L	probably benign	Het
Mfsd4b2	T	A	10: 39,797,877 (GRCm39)	K159N	probably benign	Het
Mroh2b	T	A	15: 4,938,109 (GRCm39)	D243E	probably damaging	Het
Muc21	T	C	17: 35,931,568 (GRCm39)	S873G	unknown	Het
Mug1	A	T	6: 121,852,399 (GRCm39)	Q829L	probably benign	Het
Nav3	A	T	10: 109,659,439 (GRCm39)	V726E	probably damaging	Het
Nfib	T	C	4: 82,271,826 (GRCm39)	Q247R	probably benign	Het
Npbwr1	T	C	1: 5,987,151 (GRCm39)	N121S	probably damaging	Het
Or1e19	T	C	11: 73,316,296 (GRCm39)	D171G	probably benign	Het
Or5h19	A	T	16: 58,856,379 (GRCm39)	C240*	probably null	Het
Pkd1l3	A	G	8: 110,355,409 (GRCm39)	S726G	probably benign	Het
Ppip5k1	A	T	2: 121,167,232 (GRCm39)	V847D	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Ripor2	G	A	13: 24,880,290 (GRCm39)	V385M	unknown	Het
Rufy1	C	T	11: 50,298,655 (GRCm39)	V379M	possibly damaging	Het
S100a5	A	G	3: 90,517,207 (GRCm39)	K26R	probably damaging	Het
Sin3a	T	C	9: 57,002,809 (GRCm39)	S234P	probably benign	Het
Sirt7	G	A	11: 120,511,618 (GRCm39)	T225I	probably benign	Het
Slc34a1	A	T	13: 24,006,401 (GRCm39)	T476S	probably damaging	Het
Slc38a6	T	A	12: 73,397,351 (GRCm39)	M331K	probably benign	Het
Spam1	T	C	6: 24,796,907 (GRCm39)	I286T	probably damaging	Het
Syne1	T	A	10: 5,002,793 (GRCm39)	I214F	possibly damaging	Het
Tmtc1	A	G	6: 148,226,643 (GRCm39)	L427P	probably damaging	Het
Tpbg	G	A	9: 85,726,903 (GRCm39)	A291T	possibly damaging	Het
Zfp40	A	G	17: 23,397,362 (GRCm39)	F45S	possibly damaging	Het
Zfp451	C	T	1: 33,816,094 (GRCm39)	V619M	probably damaging	Het
Zim1	A	G	7: 6,680,811 (GRCm39)	L284P	probably damaging	Het
Zkscan4	A	G	13: 21,668,044 (GRCm39)	E165G	probably benign	Het
Zmynd11	T	A	13: 9,748,720 (GRCm39)	N154Y	probably benign	Het
Zscan12	A	T	13: 21,553,457 (GRCm39)	H427L	possibly damaging	Het

Other mutations in Or52b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02212:Or52b2	APN	7	104,986,350 (GRCm39)	missense	probably damaging	1.00
R0178:Or52b2	UTSW	7	104,986,129 (GRCm39)	missense	probably benign	0.07
R0344:Or52b2	UTSW	7	104,986,814 (GRCm39)	missense	probably benign
R0931:Or52b2	UTSW	7	104,986,736 (GRCm39)	nonsense	probably null
R1434:Or52b2	UTSW	7	104,986,468 (GRCm39)	missense	probably benign
R1482:Or52b2	UTSW	7	104,986,463 (GRCm39)	missense	probably damaging	0.97
R2189:Or52b2	UTSW	7	104,986,809 (GRCm39)	missense	probably benign
R3836:Or52b2	UTSW	7	104,986,417 (GRCm39)	missense	probably benign	0.05
R5353:Or52b2	UTSW	7	104,986,324 (GRCm39)	missense	probably damaging	1.00
R6649:Or52b2	UTSW	7	104,986,914 (GRCm39)	missense	probably benign	0.00
R6715:Or52b2	UTSW	7	104,986,539 (GRCm39)	missense	probably damaging	1.00
R8822:Or52b2	UTSW	7	104,986,809 (GRCm39)	missense	probably benign
R9286:Or52b2	UTSW	7	104,985,971 (GRCm39)	missense	probably damaging	0.96
R9616:Or52b2	UTSW	7	104,986,520 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCAATCCTCCCAACTGTG -3'
(R):5'- TGTGCTAGTTGGCATCCCTG -3'

Sequencing Primer
(F):5'- ACTGTGGACCATGTTAGCAC -3'
(R):5'- CCCTGGGTTGGAGGCTTATCATAC -3'

Posted On

2019-10-07