Mutagenetix > Incidental Mutation

Incidental Mutation 'R7074:Or52b1'

549101

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

045242-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R7074 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104978424-104979485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104978475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 308 (M308T)

Ref Sequence

ENSEMBL: ENSMUSP00000147414 (fasta)

Gene Model

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

AlphaFold

Q8VH18

Predicted Effect

probably benign
Transcript: ENSMUST00000061920
AA Change: M308T

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000061272
Gene: ENSMUSG00000050266
AA Change: M308T

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 benign
Transcript: ENSMUST00000211006
AA Change: M308T

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000216230
AA Change: M308T

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,340,433 (GRCm39)	I53L	probably benign	Het
Acss2	T	C	2: 155,363,961 (GRCm39)	L80P	possibly damaging	Het
Adam3	A	T	8: 25,184,363 (GRCm39)	F546I	probably benign	Het
Adtrp	A	T	13: 41,981,617 (GRCm39)		probably null	Het
Anapc1	G	T	2: 128,520,194 (GRCm39)	P208T	probably damaging	Het
Ankrd33	A	G	15: 101,017,430 (GRCm39)	K281R	probably benign	Het
Bcl11b	A	G	12: 107,955,766 (GRCm39)	S128P	probably benign	Het
Ccdc57	T	C	11: 120,794,200 (GRCm39)	K265E	possibly damaging	Het
Cep72	A	G	13: 74,199,699 (GRCm39)	C244R	probably benign	Het
Cope	A	G	8: 70,765,537 (GRCm39)	Q303R	probably benign	Het
Cpd	T	A	11: 76,704,420 (GRCm39)	N398I	probably damaging	Het
Cplx1	C	T	5: 108,696,393 (GRCm39)		probably null	Het
Dixdc1	T	A	9: 50,601,214 (GRCm39)	E344D	possibly damaging	Het
Dock7	A	T	4: 98,833,445 (GRCm39)	F1951I	unknown	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
Faap24	A	T	7: 35,094,527 (GRCm39)	I91K	possibly damaging	Het
Fubp3	T	C	2: 31,485,306 (GRCm39)	S107P	probably damaging	Het
Gas2l2	T	A	11: 83,313,893 (GRCm39)	Q473L	probably benign	Het
Ghr	A	T	15: 3,362,873 (GRCm39)	Y200N	probably damaging	Het
Gm4950	G	A	18: 51,998,521 (GRCm39)	Q145*	probably null	Het
Gm826	C	T	2: 160,153,810 (GRCm39)	V78I	unknown	Het
Gnas	G	A	2: 174,126,842 (GRCm39)	E126K	probably damaging	Het
Grip2	A	T	6: 91,761,689 (GRCm39)	V235E	probably benign	Het
Hmgcl	A	G	4: 135,681,178 (GRCm39)	H88R	probably benign	Het
Htr7	A	G	19: 36,034,283 (GRCm39)	V124A	probably damaging	Het
Igf2r	T	A	17: 12,933,003 (GRCm39)	I840F	possibly damaging	Het
Ints8	T	C	4: 11,204,574 (GRCm39)	I961V	possibly damaging	Het
Jmy	A	T	13: 93,590,439 (GRCm39)	S555T	probably benign	Het
Klk1b27	G	A	7: 43,705,977 (GRCm39)	G227S	probably damaging	Het
Lao1	A	C	4: 118,825,382 (GRCm39)	T401P	probably damaging	Het
Lrwd1	C	T	5: 136,152,511 (GRCm39)	V547I	probably benign	Het
Mttp	C	A	3: 137,813,034 (GRCm39)	R532L	possibly damaging	Het
Muc16	T	C	9: 18,566,946 (GRCm39)	T1858A	unknown	Het
Myo18a	T	A	11: 77,733,387 (GRCm39)	D1409E	probably benign	Het
Ncor2	T	A	5: 125,126,430 (GRCm39)	R554*	probably null	Het
Or14j6	T	A	17: 38,214,718 (GRCm39)	Y94N	possibly damaging	Het
Or1e1b-ps1	A	T	11: 73,845,975 (GRCm39)	H153L	probably benign	Het
Or2b11	T	C	11: 59,461,835 (GRCm39)	T244A	probably damaging	Het
Or2l13b	T	A	16: 19,348,855 (GRCm39)	I272F	possibly damaging	Het
Prkar2b	A	G	12: 32,022,147 (GRCm39)	Y213H	probably damaging	Het
Prkd3	T	A	17: 79,282,236 (GRCm39)	K306*	probably null	Het
Psd2	A	G	18: 36,143,737 (GRCm39)	E681G	probably benign	Het
Sel1l2	T	A	2: 140,105,362 (GRCm39)	N276I	probably damaging	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
Smyd1	A	G	6: 71,214,359 (GRCm39)	V214A	probably damaging	Het
Spag5	T	C	11: 78,195,868 (GRCm39)		probably null	Het
Trem3	C	T	17: 48,556,909 (GRCm39)	R127W	probably damaging	Het
Ttn	G	A	2: 76,748,425 (GRCm39)	T4208I	probably benign	Het
Tubgcp6	A	G	15: 89,004,839 (GRCm39)	F260S	probably damaging	Het
Vmn1r51	A	T	6: 90,106,654 (GRCm39)	D190V	probably benign	Het
Zc3h14	A	G	12: 98,724,859 (GRCm39)	I174V	possibly damaging	Het
Zfp423	G	A	8: 88,509,060 (GRCm39)	T428I	probably benign	Het
Zfp608	T	A	18: 55,030,454 (GRCm39)	N1162I	possibly damaging	Het
Zmym5	T	C	14: 57,042,255 (GRCm39)	M8V	probably benign	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
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'- GACAACATGGTTCTTGAACAAAGG -3'
(R):5'- ATACGTTGATCCTCCAGGCTG -3'

Sequencing Primer
(F):5'- GGAACTCACTGGCAAGTTCTC -3'
(R):5'- TTCCCAGGATGCTAGGCACAAG -3'

Posted On

2019-05-15