Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02795:Or2ah1'

359924

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2ah1

Ensembl Gene

ENSMUSG00000043892

Gene Name

olfactory receptor family 2 subfamily AH member 1

Synonyms

GA_x6K02T2Q125-47301584-47302519, Olfr1018, MOR260-5

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

85653317-85654252 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 85653856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 180 (C180*)

Ref Sequence

ENSEMBL: ENSMUSP00000151090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054201] [ENSMUST00000214416]

AlphaFold

A2ASV3

Predicted Effect

probably null
Transcript: ENSMUST00000054201
AA Change: C180*

SMART Domains

Protein: ENSMUSP00000050833
Gene: ENSMUSG00000043892
AA Change: C180*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	4.1e-59	PFAM
Pfam:7tm_1	42	291	1.2e-25	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000214416
AA Change: C180*

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,327,907 (GRCm39)	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,252,468 (GRCm39)		probably benign	Het
Acvr1	A	G	2: 58,352,964 (GRCm39)	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,271,191 (GRCm39)	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,644,786 (GRCm39)		probably null	Het
Btnl9	A	T	11: 49,065,694 (GRCm39)		probably benign	Het
Dbx1	T	A	7: 49,286,325 (GRCm39)	I47F	probably benign	Het
Dennd2b	T	C	7: 109,155,571 (GRCm39)	Y393C	probably damaging	Het
Dnaja3	A	G	16: 4,507,937 (GRCm39)		probably benign	Het
Dnmt1	T	C	9: 20,838,407 (GRCm39)	S220G	probably benign	Het
Dock9	A	T	14: 121,877,390 (GRCm39)	M451K	probably benign	Het
Eml3	A	G	19: 8,911,142 (GRCm39)	Y257C	probably benign	Het
Fam3d	T	A	14: 8,355,497 (GRCm38)	M113L	probably benign	Het
Fbxw19	C	A	9: 109,324,886 (GRCm39)	M10I	possibly damaging	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Galnt5	C	A	2: 57,917,883 (GRCm39)	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331 (GRCm39)	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,867,484 (GRCm39)		probably benign	Het
Gpr45	C	T	1: 43,071,653 (GRCm39)	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,497,102 (GRCm39)	S302L	probably damaging	Het
Hrg	T	C	16: 22,776,303 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,045,889 (GRCm39)		probably null	Het
Lgr4	T	C	2: 109,838,555 (GRCm39)		probably benign	Het
Lrrc9	C	T	12: 72,525,542 (GRCm39)	T830M	probably damaging	Het
Mdga2	T	C	12: 66,736,206 (GRCm39)	T341A	probably benign	Het
Mms19	C	T	19: 41,940,845 (GRCm39)		probably null	Het
Nectin1	A	G	9: 43,714,849 (GRCm39)	S362G	probably benign	Het
Nlrc3	G	T	16: 3,783,149 (GRCm39)	H87N	probably damaging	Het
Or1e17	G	A	11: 73,831,755 (GRCm39)	V228I	probably benign	Het
Or4b13	A	G	2: 90,082,906 (GRCm39)	L142P	probably damaging	Het
Or52a20	T	A	7: 103,366,090 (GRCm39)	F96L	probably benign	Het
Or5h17	G	T	16: 58,820,640 (GRCm39)	L197F	possibly damaging	Het
Pcsk1	G	T	13: 75,260,739 (GRCm39)	G321C	probably damaging	Het
Poglut3	A	G	9: 53,303,405 (GRCm39)	D99G	probably damaging	Het
Prrc2c	G	T	1: 162,541,868 (GRCm39)	P374T	probably benign	Het
Rusc1	A	T	3: 88,999,257 (GRCm39)	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,610,076 (GRCm39)	N4250S	probably benign	Het
Scara5	A	C	14: 65,968,129 (GRCm39)	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,857,447 (GRCm39)	K595R	probably benign	Het
Serpinb6a	A	C	13: 34,115,576 (GRCm39)	L15R	probably damaging	Het
Setdb1	A	T	3: 95,234,684 (GRCm39)	N1006K	probably damaging	Het
Slc18a2	G	A	19: 59,262,922 (GRCm39)		probably benign	Het
Slc22a30	C	T	19: 8,378,259 (GRCm39)	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,958,003 (GRCm39)	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,395,782 (GRCm39)	D611V	probably benign	Het
Spag6	G	T	2: 18,737,894 (GRCm39)	V255F	probably benign	Het
Svep1	C	A	4: 58,123,223 (GRCm39)	G698W	probably damaging	Het
Syne2	T	C	12: 76,013,323 (GRCm39)	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,373,524 (GRCm39)	E58G	possibly damaging	Het
Trim24	A	T	6: 37,896,324 (GRCm39)	E260D	probably damaging	Het
Ugt2b1	T	A	5: 87,065,560 (GRCm39)	D493V	probably damaging	Het
Vmn1r27	A	G	6: 58,192,287 (GRCm39)	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,305,539 (GRCm39)	Q74R	probably benign	Het
Vps25	A	G	11: 101,146,916 (GRCm39)	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,339,480 (GRCm39)	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,970,505 (GRCm39)	E273G	possibly damaging	Het

Other mutations in Or2ah1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Or2ah1	APN	2	85,653,332 (GRCm39)	missense	probably benign	0.00
IGL03189:Or2ah1	APN	2	85,653,902 (GRCm39)	missense	probably benign	0.27
IGL03329:Or2ah1	APN	2	85,653,729 (GRCm39)	missense	probably benign	0.02
IGL03400:Or2ah1	APN	2	85,654,094 (GRCm39)	missense	probably damaging	1.00
G1patch:Or2ah1	UTSW	2	85,654,134 (GRCm39)	missense	probably damaging	0.97
IGL02796:Or2ah1	UTSW	2	85,653,933 (GRCm39)	missense	probably benign	0.00
R5322:Or2ah1	UTSW	2	85,653,531 (GRCm39)	missense	probably damaging	0.99
R5597:Or2ah1	UTSW	2	85,653,804 (GRCm39)	missense	probably damaging	0.96
R6521:Or2ah1	UTSW	2	85,653,794 (GRCm39)	missense	probably benign	0.01
R6725:Or2ah1	UTSW	2	85,654,134 (GRCm39)	missense	probably damaging	0.97
R7068:Or2ah1	UTSW	2	85,653,396 (GRCm39)	missense	probably benign	0.00
R7105:Or2ah1	UTSW	2	85,654,224 (GRCm39)	missense	probably benign	0.22
R8011:Or2ah1	UTSW	2	85,653,957 (GRCm39)	missense	possibly damaging	0.90
R8294:Or2ah1	UTSW	2	85,653,531 (GRCm39)	missense	probably damaging	0.99
R9160:Or2ah1	UTSW	2	85,653,318 (GRCm39)	start codon destroyed	probably null	0.37
Z1176:Or2ah1	UTSW	2	85,653,365 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18