Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01288:Or4p22'

278249

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or4p22

Ensembl Gene

ENSMUSG00000051424

Gene Name

olfactory receptor family 4 subfamily P member 22

Synonyms

MOR225-3, GA_x6K02T2Q125-49974190-49975125, Olfr1184

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL01288

Quality Score

Status

Chromosome

Chromosomal Location

88317078-88318013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88317592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 172 (I172K)

Ref Sequence

ENSEMBL: ENSMUSP00000149649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050038] [ENSMUST00000216675]

AlphaFold

Q8VG86

Predicted Effect

probably damaging
Transcript: ENSMUST00000050038
AA Change: I172K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000058679
Gene: ENSMUSG00000051424
AA Change: I172K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.2e-47	PFAM
Pfam:7tm_1	39	285	2.3e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216675
AA Change: I172K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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
Acsf3	G	T	8: 123,507,381 (GRCm39)		probably benign	Het
Acsl3	G	T	1: 78,677,476 (GRCm39)	W490L	possibly damaging	Het
Ahnak	A	G	19: 8,979,858 (GRCm39)	I381V	possibly damaging	Het
Aox1	A	G	1: 58,333,566 (GRCm39)	Y261C	probably damaging	Het
Ap3m2	T	C	8: 23,293,931 (GRCm39)	T40A	probably benign	Het
Arfgef1	C	T	1: 10,283,436 (GRCm39)	A158T	possibly damaging	Het
Atp1a4	T	C	1: 172,085,474 (GRCm39)	E43G	possibly damaging	Het
Cog5	C	T	12: 31,936,205 (GRCm39)	T584I	probably benign	Het
Cpa1	G	A	6: 30,640,582 (GRCm39)	V75M	probably damaging	Het
Cul7	A	G	17: 46,968,733 (GRCm39)		probably benign	Het
Dennd2b	A	G	7: 109,139,029 (GRCm39)	I668T	probably damaging	Het
Dop1b	T	C	16: 93,536,181 (GRCm39)	I93T	possibly damaging	Het
Dyrk2	T	C	10: 118,696,604 (GRCm39)	Y218C	probably damaging	Het
Efr3b	T	C	12: 4,032,865 (GRCm39)	Y164C	probably damaging	Het
Etos1	C	A	7: 130,373,935 (GRCm39)		probably benign	Het
Fam13a	A	G	6: 58,933,712 (GRCm39)	Y293H	probably damaging	Het
Gde1	A	T	7: 118,290,863 (GRCm39)	V154D	possibly damaging	Het
Glyat	A	G	19: 12,627,719 (GRCm39)	T105A	possibly damaging	Het
Il36b	A	T	2: 24,049,925 (GRCm39)	I179L	probably benign	Het
Kif21b	C	T	1: 136,099,922 (GRCm39)	T1492M	probably benign	Het
Kmt2d	G	T	15: 98,762,925 (GRCm39)	P282T	probably damaging	Het
Lgi4	A	G	7: 30,768,468 (GRCm39)	E489G	probably benign	Het
Lipn	A	C	19: 34,056,435 (GRCm39)	E260D	probably benign	Het
Mdn1	A	G	4: 32,730,864 (GRCm39)	D2911G	probably benign	Het
Nab2	C	T	10: 127,500,978 (GRCm39)	R38Q	probably damaging	Het
Or1e35	A	T	11: 73,798,139 (GRCm39)	Y60N	probably damaging	Het
Or4c1	A	T	2: 89,133,816 (GRCm39)	V40E	possibly damaging	Het
Or52i2	A	G	7: 102,319,858 (GRCm39)	T244A	probably damaging	Het
Or5t16	C	A	2: 86,818,598 (GRCm39)	M307I	probably benign	Het
Or6f2	T	C	7: 139,756,528 (GRCm39)	L165P	probably damaging	Het
Osbpl6	T	C	2: 76,395,167 (GRCm39)	S337P	probably damaging	Het
Phf8	T	C	X: 150,330,921 (GRCm39)		probably null	Het
Pik3c2b	C	T	1: 133,022,543 (GRCm39)	H1162Y	probably damaging	Het
Plek2	T	C	12: 78,941,727 (GRCm39)	D134G	possibly damaging	Het
Rnf139	G	A	15: 58,771,028 (GRCm39)	R351H	probably damaging	Het
Shld2	A	T	14: 33,981,600 (GRCm39)	Y513N	probably benign	Het
Skint5	T	C	4: 113,381,332 (GRCm39)		probably benign	Het
Slc12a9	C	T	5: 137,329,200 (GRCm39)		probably null	Het
Stradb	C	A	1: 59,031,460 (GRCm39)	H216N	possibly damaging	Het
Tex15	C	T	8: 34,061,412 (GRCm39)	H281Y	probably benign	Het
Tg	G	T	15: 66,608,125 (GRCm39)	V237L	possibly damaging	Het
Tns1	T	A	1: 73,992,969 (GRCm39)	T570S	probably damaging	Het
Tpm1	C	T	9: 66,943,337 (GRCm39)	R105H	probably damaging	Het
Wdfy3	G	T	5: 102,049,857 (GRCm39)		probably null	Het
Zc3h12c	A	G	9: 52,028,951 (GRCm39)		probably benign	Het
Zmynd8	T	A	2: 165,654,734 (GRCm39)	S584C	probably damaging	Het

Other mutations in Or4p22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01286:Or4p22	APN	2	88,317,592 (GRCm39)	missense	probably damaging	1.00
IGL01790:Or4p22	APN	2	88,317,270 (GRCm39)	missense	possibly damaging	0.65
IGL02070:Or4p22	APN	2	88,317,346 (GRCm39)	missense	probably damaging	1.00
IGL02247:Or4p22	APN	2	88,317,771 (GRCm39)	missense	probably benign	0.00
IGL02932:Or4p22	APN	2	88,317,519 (GRCm39)	missense	probably benign	0.01
IGL02997:Or4p22	APN	2	88,317,732 (GRCm39)	missense	probably damaging	0.99
IGL03161:Or4p22	APN	2	88,317,792 (GRCm39)	missense	probably benign	0.01
PIT4531001:Or4p22	UTSW	2	88,317,601 (GRCm39)	missense	possibly damaging	0.95
R3713:Or4p22	UTSW	2	88,317,787 (GRCm39)	missense	probably damaging	1.00
R3715:Or4p22	UTSW	2	88,317,787 (GRCm39)	missense	probably damaging	1.00
R4421:Or4p22	UTSW	2	88,317,585 (GRCm39)	missense	probably damaging	1.00
R4514:Or4p22	UTSW	2	88,317,709 (GRCm39)	missense	probably benign	0.05
R5096:Or4p22	UTSW	2	88,317,646 (GRCm39)	missense	possibly damaging	0.89
R5661:Or4p22	UTSW	2	88,317,441 (GRCm39)	missense	probably damaging	0.98
R5851:Or4p22	UTSW	2	88,317,204 (GRCm39)	missense	possibly damaging	0.54
R6458:Or4p22	UTSW	2	88,317,562 (GRCm39)	missense	possibly damaging	0.90
R7073:Or4p22	UTSW	2	88,317,651 (GRCm39)	missense	probably benign	0.00
R7102:Or4p22	UTSW	2	88,317,492 (GRCm39)	missense	probably damaging	1.00
R7145:Or4p22	UTSW	2	88,317,721 (GRCm39)	missense	probably damaging	1.00
R7221:Or4p22	UTSW	2	88,317,973 (GRCm39)	missense	probably damaging	0.97
R8827:Or4p22	UTSW	2	88,317,165 (GRCm39)	missense	probably damaging	0.96
R9324:Or4p22	UTSW	2	88,317,787 (GRCm39)	missense	probably damaging	1.00
R9645:Or4p22	UTSW	2	88,317,373 (GRCm39)	missense	possibly damaging	0.89
X0063:Or4p22	UTSW	2	88,317,834 (GRCm39)	missense	probably benign	0.23

Posted On

2015-04-16