Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02548:Or5b111'

297912

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5b111

Ensembl Gene

ENSMUSG00000062199

Gene Name

olfactory receptor family 5 subfamily B member 111

Synonyms

MOR202-28, GA_x6K02T2RE5P-3645346-3644423, Olfr1465

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL02548

Quality Score

Status

Chromosome

Chromosomal Location

13290724-13291647 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13291302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 116 (M116V)

Ref Sequence

ENSEMBL: ENSMUSP00000146645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080142] [ENSMUST00000207340]

AlphaFold

Q7TQR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000080142
AA Change: M116V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079039
Gene: ENSMUSG00000062199
AA Change: M116V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	7.4e-47	PFAM
Pfam:7tm_1	39	288	3.7e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207340
AA Change: M116V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	A	7: 45,654,686 (GRCm39)	A545V	probably damaging	Het
Adam29	A	T	8: 56,325,902 (GRCm39)	L184*	probably null	Het
Ap1g1	C	T	8: 110,576,254 (GRCm39)	A432V	probably damaging	Het
Atrn	C	T	2: 130,814,202 (GRCm39)	T716I	probably damaging	Het
Bahd1	C	A	2: 118,747,526 (GRCm39)	Q382K	possibly damaging	Het
Barhl2	A	G	5: 106,603,391 (GRCm39)	V256A	probably benign	Het
Camta2	A	G	11: 70,561,511 (GRCm39)	F1113L	probably damaging	Het
Cdh23	G	T	10: 60,485,901 (GRCm39)	T38K	probably benign	Het
Cmtm3	T	C	8: 105,071,437 (GRCm39)	L111P	probably damaging	Het
Col27a1	T	C	4: 63,236,492 (GRCm39)		probably benign	Het
Cyp2c29	G	A	19: 39,279,291 (GRCm39)	G96D	possibly damaging	Het
Flt1	C	A	5: 147,576,058 (GRCm39)	R650L	probably benign	Het
Fpr1	T	A	17: 18,096,915 (GRCm39)	E358V	probably benign	Het
Ggnbp2	A	T	11: 84,753,112 (GRCm39)	N42K	possibly damaging	Het
Gldc	T	C	19: 30,077,299 (GRCm39)	T958A	probably benign	Het
Gm3573	A	G	14: 42,009,452 (GRCm39)		probably null	Het
Hspbp1	T	C	7: 4,684,840 (GRCm39)		probably benign	Het
Jhy	G	T	9: 40,828,471 (GRCm39)	Y478*	probably null	Het
Kiz	A	G	2: 146,712,690 (GRCm39)	E118G	probably damaging	Het
Klhdc1	A	G	12: 69,300,492 (GRCm39)	Y144C	probably benign	Het
Lamc3	A	T	2: 31,810,674 (GRCm39)	Y848F	probably benign	Het
Mixl1	T	C	1: 180,522,269 (GRCm39)	E204G	probably benign	Het
Muc2	T	A	7: 141,305,594 (GRCm39)	C202S	probably damaging	Het
Nfatc1	T	C	18: 80,741,113 (GRCm39)	S282G	probably damaging	Het
Or2j6	T	A	7: 139,980,575 (GRCm39)	Y128F	probably damaging	Het
Or5k8	C	A	16: 58,644,691 (GRCm39)	C127F	probably benign	Het
Orc2	A	T	1: 58,505,281 (GRCm39)		probably benign	Het
Pcdhb10	T	C	18: 37,545,743 (GRCm39)	I273T	probably benign	Het
Pdzph1	G	A	17: 59,280,386 (GRCm39)	T632I	probably benign	Het
Phf1	A	G	17: 27,154,600 (GRCm39)	Y225C	probably damaging	Het
Pramel17	T	A	4: 101,692,770 (GRCm39)	Y410F	probably damaging	Het
Prcp	T	C	7: 92,550,382 (GRCm39)	F60L	probably damaging	Het
Psg21	C	T	7: 18,388,961 (GRCm39)	V44I	possibly damaging	Het
Ptgdr	C	T	14: 45,096,071 (GRCm39)	V214M	probably damaging	Het
Pth1r	G	A	9: 110,556,748 (GRCm39)	R181W	probably damaging	Het
Ralgapb	A	G	2: 158,286,585 (GRCm39)	I343M	probably damaging	Het
Retreg1	C	T	15: 25,895,204 (GRCm39)	Q128*	probably null	Het
Rrbp1	T	C	2: 143,791,679 (GRCm39)		probably benign	Het
Skint5	T	A	4: 113,588,273 (GRCm39)	M726L	unknown	Het
Slc6a18	T	C	13: 73,818,114 (GRCm39)	Y301C	probably damaging	Het
Slc8a3	G	A	12: 81,250,930 (GRCm39)		probably benign	Het
Tacr3	C	A	3: 134,535,232 (GRCm39)	Q67K	probably damaging	Het
Tfrc	A	T	16: 32,443,640 (GRCm39)	K534*	probably null	Het
Timp3	T	A	10: 86,174,315 (GRCm39)	M67K	probably benign	Het
Tmem120a	C	T	5: 135,765,628 (GRCm39)	E179K	probably damaging	Het
Tomm40l	G	A	1: 171,049,216 (GRCm39)		probably benign	Het
Tubal3	A	G	13: 3,980,554 (GRCm39)	R89G	probably benign	Het
Wdr35	A	T	12: 9,074,297 (GRCm39)	N976I	probably benign	Het
Zfp292	T	C	4: 34,805,416 (GRCm39)	T2543A	probably damaging	Het
Zfp976	T	A	7: 42,261,953 (GRCm39)	H628L	unknown	Het
Zmynd8	A	G	2: 165,675,325 (GRCm39)	V301A	probably damaging	Het

Other mutations in Or5b111

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Or5b111	APN	19	13,291,490 (GRCm39)	missense	probably damaging	1.00
IGL01548:Or5b111	APN	19	13,291,350 (GRCm39)	missense	possibly damaging	0.95
IGL02663:Or5b111	APN	19	13,290,743 (GRCm39)	missense	probably benign	0.01
BB010:Or5b111	UTSW	19	13,291,569 (GRCm39)	missense	probably benign
BB020:Or5b111	UTSW	19	13,291,569 (GRCm39)	missense	probably benign
PIT4651001:Or5b111	UTSW	19	13,291,556 (GRCm39)	missense	probably benign	0.12
R0563:Or5b111	UTSW	19	13,291,112 (GRCm39)	missense	probably benign	0.28
R1803:Or5b111	UTSW	19	13,291,535 (GRCm39)	missense	possibly damaging	0.90
R2146:Or5b111	UTSW	19	13,291,485 (GRCm39)	missense	probably benign	0.23
R4674:Or5b111	UTSW	19	13,291,178 (GRCm39)	missense	probably benign	0.17
R4697:Or5b111	UTSW	19	13,291,081 (GRCm39)	missense	probably benign	0.39
R4825:Or5b111	UTSW	19	13,291,684 (GRCm39)	splice site	probably null
R4884:Or5b111	UTSW	19	13,291,034 (GRCm39)	missense	probably benign	0.28
R5647:Or5b111	UTSW	19	13,291,553 (GRCm39)	missense	probably damaging	1.00
R6401:Or5b111	UTSW	19	13,290,878 (GRCm39)	missense	probably damaging	1.00
R6913:Or5b111	UTSW	19	13,290,998 (GRCm39)	missense	probably benign	0.01
R6996:Or5b111	UTSW	19	13,291,036 (GRCm39)	missense	probably benign	0.15
R7933:Or5b111	UTSW	19	13,291,569 (GRCm39)	missense	probably benign
R8946:Or5b111	UTSW	19	13,291,502 (GRCm39)	missense	probably damaging	0.97
R8966:Or5b111	UTSW	19	13,291,196 (GRCm39)	missense	probably damaging	1.00
R9641:Or5b111	UTSW	19	13,291,100 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16