Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02669:Or52b4'

302873

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or52b4

Ensembl Gene

ENSMUSG00000073979

Gene Name

olfactory receptor family 52 subfamily B member 4

Synonyms

MOR31-4, Olfr547, GA_x6K02T2PBJ9-5256044-5256988

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL02669

Quality Score

Status

Chromosome

Chromosomal Location

102183956-102184891 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102184868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 305 (M305V)

Ref Sequence

ENSEMBL: ENSMUSP00000095831 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098229]

AlphaFold

E9PXN3

Predicted Effect

probably benign
Transcript: ENSMUST00000098229
AA Change: M305V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095831
Gene: ENSMUSG00000073979
AA Change: M305V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	1.1e-105	PFAM
Pfam:7TM_GPCR_Srsx	37	277	6.7e-10	PFAM
Pfam:7tm_1	43	294	1.2e-20	PFAM

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	A	16: 19,702,505 (GRCm39)		noncoding transcript	Het
Acap1	G	A	11: 69,785,421 (GRCm39)		probably benign	Het
Adam7	T	C	14: 68,745,343 (GRCm39)	Y627C	probably damaging	Het
Agrn	C	T	4: 156,259,018 (GRCm39)		probably benign	Het
Aoc1l2	A	G	6: 48,908,407 (GRCm39)	Y469C	probably damaging	Het
Bace2	T	C	16: 97,238,093 (GRCm39)	*515R	probably null	Het
Baiap3	C	T	17: 25,463,322 (GRCm39)	V958M	probably damaging	Het
Brms1l	A	T	12: 55,888,401 (GRCm39)	D63V	probably damaging	Het
Cnksr1	A	T	4: 133,957,774 (GRCm39)	I435N	probably damaging	Het
Col14a1	G	A	15: 55,282,178 (GRCm39)	G813E	unknown	Het
Cpne6	A	G	14: 55,751,283 (GRCm39)	N201S	probably benign	Het
Dnajc12	A	G	10: 63,233,071 (GRCm39)	S71G	probably damaging	Het
Dpp3	A	T	19: 4,973,710 (GRCm39)		probably null	Het
E2f3	A	G	13: 30,100,974 (GRCm39)	S239P	probably benign	Het
Eif3e	T	A	15: 43,146,088 (GRCm39)	M1L	probably benign	Het
Erap1	A	G	13: 74,823,987 (GRCm39)	T867A	probably benign	Het
Erlin1	G	T	19: 44,027,658 (GRCm39)	A260E	probably damaging	Het
Esrp1	A	G	4: 11,386,324 (GRCm39)	V38A	possibly damaging	Het
Foxn1	T	C	11: 78,261,986 (GRCm39)	R128G	probably damaging	Het
Gnb3	A	G	6: 124,814,688 (GRCm39)	L70P	probably benign	Het
Gon4l	T	C	3: 88,802,806 (GRCm39)	V1139A	probably damaging	Het
Gpt2	G	T	8: 86,249,908 (GRCm39)	M463I	probably benign	Het
Gtpbp3	C	A	8: 71,943,546 (GRCm39)	A201D	probably damaging	Het
Jaml	A	C	9: 45,015,489 (GRCm39)	K331T	possibly damaging	Het
Kntc1	G	A	5: 123,893,727 (GRCm39)		probably benign	Het
Ksr2	A	G	5: 117,693,446 (GRCm39)	K298R	probably damaging	Het
Mfge8	T	C	7: 78,795,429 (GRCm39)	D46G	probably benign	Het
Ncam2	T	A	16: 81,314,429 (GRCm39)	N468K	probably benign	Het
Nup88	A	G	11: 70,847,110 (GRCm39)	M300T	probably damaging	Het
Or4c118	T	A	2: 88,974,564 (GRCm39)	K268*	probably null	Het
Or4k48	A	T	2: 111,476,236 (GRCm39)	Y35*	probably null	Het
Prdm1	A	T	10: 44,315,880 (GRCm39)	M752K	probably benign	Het
Prl3b1	A	T	13: 27,429,795 (GRCm39)	M78L	probably benign	Het
Ralgps2	T	C	1: 156,660,268 (GRCm39)	E268G	probably damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Slc4a5	A	G	6: 83,240,525 (GRCm39)	D279G	possibly damaging	Het
Tanc1	T	A	2: 59,630,330 (GRCm39)	I770K	probably damaging	Het
Tbl2	G	A	5: 135,181,852 (GRCm39)	R64H	probably damaging	Het
Tg	T	A	15: 66,620,575 (GRCm39)		probably benign	Het
Tmprss13	A	T	9: 45,243,824 (GRCm39)	I187F	probably benign	Het
Tubb3	T	C	8: 124,147,856 (GRCm39)	L263P	probably damaging	Het
Vmn2r109	T	G	17: 20,774,518 (GRCm39)	D279A	possibly damaging	Het
Vps33b	A	G	7: 79,925,786 (GRCm39)		probably benign	Het
Yeats2	A	G	16: 20,005,033 (GRCm39)	S338G	probably benign	Het
Zfp142	T	C	1: 74,610,432 (GRCm39)	Q1121R	probably benign	Het
Zic1	G	T	9: 91,246,486 (GRCm39)	H195Q	possibly damaging	Het

Other mutations in Or52b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01383:Or52b4	APN	7	102,184,140 (GRCm39)	missense	probably benign	0.31
IGL01522:Or52b4	APN	7	102,184,391 (GRCm39)	missense	probably damaging	0.97
IGL02182:Or52b4	APN	7	102,184,775 (GRCm39)	missense	probably benign	0.00
IGL03139:Or52b4	APN	7	102,184,517 (GRCm39)	missense	possibly damaging	0.95
FR4976:Or52b4	UTSW	7	102,184,888 (GRCm39)	makesense	probably null
R1246:Or52b4	UTSW	7	102,184,149 (GRCm39)	missense	probably damaging	1.00
R2884:Or52b4	UTSW	7	102,184,439 (GRCm39)	missense	probably benign	0.03
R3852:Or52b4	UTSW	7	102,184,487 (GRCm39)	missense	probably benign	0.01
R4686:Or52b4	UTSW	7	102,184,356 (GRCm39)	missense	probably damaging	1.00
R4879:Or52b4	UTSW	7	102,183,962 (GRCm39)	missense	probably benign	0.00
R6169:Or52b4	UTSW	7	102,184,479 (GRCm39)	missense	probably benign	0.02
R6213:Or52b4	UTSW	7	102,184,139 (GRCm39)	missense	probably damaging	1.00
R7080:Or52b4	UTSW	7	102,184,172 (GRCm39)	missense	possibly damaging	0.91
R7966:Or52b4	UTSW	7	102,184,623 (GRCm39)	missense	probably damaging	1.00
R8510:Or52b4	UTSW	7	102,184,170 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16