Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02961:Or5w22'

365330

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5w22

Ensembl Gene

ENSMUSG00000061520

Gene Name

olfactory receptor family 5 subfamily W member 22

Synonyms

Olfr4-2, V5, GA_x6K02T2Q125-49033418-49034341, MOR177-5, Olfr153

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL02961

Quality Score

Status

Chromosome

Chromosomal Location

87362379-87363302 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87363028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 217 (Y217C)

Ref Sequence

ENSEMBL: ENSMUSP00000149859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077471] [ENSMUST00000217113]

AlphaFold

Q7TR48

Predicted Effect

probably damaging
Transcript: ENSMUST00000077471
AA Change: Y217C

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076681
Gene: ENSMUSG00000075151
AA Change: Y217C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	6e-48	PFAM
Pfam:7tm_1	40	289	2e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217113
AA Change: Y217C

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; 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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,671,731 (GRCm39)	V2288A	probably damaging	Het
Agbl4	T	A	4: 110,437,318 (GRCm39)	N76K	probably damaging	Het
AI182371	A	T	2: 34,976,124 (GRCm39)	V258E	possibly damaging	Het
Alg1	T	A	16: 5,052,861 (GRCm39)	N80K	probably benign	Het
Ambra1	A	G	2: 91,741,793 (GRCm39)	M963V	possibly damaging	Het
Avil	C	A	10: 126,844,175 (GRCm39)	Q245K	probably benign	Het
Caml	A	G	13: 55,779,695 (GRCm39)	N256S	probably benign	Het
Ccdc102a	A	C	8: 95,629,978 (GRCm39)	I521S	possibly damaging	Het
Ccm2l	A	G	2: 152,920,521 (GRCm39)	T393A	probably benign	Het
Cdh16	A	G	8: 105,341,837 (GRCm39)	V91A	probably damaging	Het
Chd7	A	G	4: 8,751,542 (GRCm39)	D13G	probably damaging	Het
Chsy1	T	A	7: 65,821,530 (GRCm39)	D588E	probably benign	Het
Cilp	T	A	9: 65,185,891 (GRCm39)	V662E	possibly damaging	Het
Cog8	A	G	8: 107,782,885 (GRCm39)		probably benign	Het
Cpb2	T	C	14: 75,502,823 (GRCm39)	V134A	probably benign	Het
Ctcfl	T	A	2: 172,943,712 (GRCm39)	H546L	possibly damaging	Het
Dclre1c	A	G	2: 3,438,070 (GRCm39)	D136G	probably damaging	Het
Dnah2	T	A	11: 69,409,240 (GRCm39)	E379D	probably damaging	Het
Extl3	A	G	14: 65,294,408 (GRCm39)	Y808H	possibly damaging	Het
Gm7247	T	A	14: 51,602,812 (GRCm39)	N49K	probably damaging	Het
Insr	T	C	8: 3,308,785 (GRCm39)	I84V	probably benign	Het
Ipo7	C	T	7: 109,646,223 (GRCm39)	P541S	probably benign	Het
Kcnc3	T	C	7: 44,240,916 (GRCm39)	S203P	probably damaging	Het
Myo5a	A	G	9: 75,122,402 (GRCm39)	D1732G	probably benign	Het
Or10q3	T	A	19: 11,847,695 (GRCm39)	N295I	probably damaging	Het
Or52d1	C	A	7: 103,756,357 (GRCm39)	Y290*	probably null	Het
Or5p68	T	C	7: 107,945,334 (GRCm39)	I285V	probably benign	Het
Or6x1	T	C	9: 40,098,897 (GRCm39)	V162A	probably benign	Het
Pde3a	T	A	6: 141,405,426 (GRCm39)	L426*	probably null	Het
Pkd1	T	A	17: 24,797,089 (GRCm39)	D8E	possibly damaging	Het
Polr3a	A	T	14: 24,517,108 (GRCm39)	Y714*	probably null	Het
Pramel16	T	C	4: 143,675,717 (GRCm39)	T370A	probably damaging	Het
Prb1c	A	T	6: 132,338,371 (GRCm39)	F282L	unknown	Het
Rasgrf1	T	C	9: 89,863,702 (GRCm39)	V556A	possibly damaging	Het
Rev3l	T	C	10: 39,703,941 (GRCm39)	Y1996H	possibly damaging	Het
Rttn	T	C	18: 89,071,697 (GRCm39)	L1248P	probably damaging	Het
Slc11a1	T	C	1: 74,416,332 (GRCm39)	L53P	probably damaging	Het
Slc22a27	T	C	19: 7,903,886 (GRCm39)	R84G	probably damaging	Het
Sptbn4	A	G	7: 27,097,392 (GRCm39)	L1302P	probably damaging	Het
Srm	T	C	4: 148,678,586 (GRCm39)	V271A	possibly damaging	Het
Sycp2	A	G	2: 178,022,655 (GRCm39)	I492T	probably benign	Het
Tmprss13	A	G	9: 45,256,301 (GRCm39)	T472A	probably damaging	Het
Togaram1	A	G	12: 65,013,484 (GRCm39)	D245G	probably damaging	Het
Vmn1r184	A	T	7: 25,967,075 (GRCm39)	I274L	probably benign	Het
Vmn1r21	T	C	6: 57,820,974 (GRCm39)	M157V	probably benign	Het
Wdr90	C	A	17: 26,067,649 (GRCm39)	E1420*	probably null	Het
Zfp518a	A	T	19: 40,903,462 (GRCm39)	R1130S	probably benign	Het

Other mutations in Or5w22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01320:Or5w22	APN	2	87,362,629 (GRCm39)	missense	probably benign	0.01
IGL02102:Or5w22	APN	2	87,362,805 (GRCm39)	missense	probably benign
IGL02604:Or5w22	APN	2	87,362,949 (GRCm39)	missense	probably damaging	0.98
IGL02695:Or5w22	APN	2	87,362,461 (GRCm39)	missense	probably benign	0.00
PIT4696001:Or5w22	UTSW	2	87,363,124 (GRCm39)	missense	probably damaging	1.00
R0727:Or5w22	UTSW	2	87,363,245 (GRCm39)	nonsense	probably null
R1534:Or5w22	UTSW	2	87,363,016 (GRCm39)	missense	probably damaging	0.99
R1699:Or5w22	UTSW	2	87,362,427 (GRCm39)	missense	probably benign	0.07
R1885:Or5w22	UTSW	2	87,363,168 (GRCm39)	missense	probably damaging	0.99
R3705:Or5w22	UTSW	2	87,362,412 (GRCm39)	missense	probably benign	0.01
R5664:Or5w22	UTSW	2	87,363,178 (GRCm39)	missense	probably benign	0.35
R6492:Or5w22	UTSW	2	87,363,085 (GRCm39)	missense	possibly damaging	0.66
R6808:Or5w22	UTSW	2	87,363,285 (GRCm39)	missense	probably benign
R7432:Or5w22	UTSW	2	87,362,784 (GRCm39)	missense	probably damaging	1.00
R7477:Or5w22	UTSW	2	87,362,431 (GRCm39)	missense	probably benign	0.00
R8014:Or5w22	UTSW	2	87,362,508 (GRCm39)	missense	probably benign	0.13
R8345:Or5w22	UTSW	2	87,362,691 (GRCm39)	missense	probably benign	0.01
R8887:Or5w22	UTSW	2	87,363,187 (GRCm39)	missense	possibly damaging	0.95
R8971:Or5w22	UTSW	2	87,362,580 (GRCm39)	missense	probably benign	0.19
R9311:Or5w22	UTSW	2	87,362,358 (GRCm39)	start gained	probably benign
R9690:Or5w22	UTSW	2	87,362,759 (GRCm39)	missense	probably benign	0.03
X0028:Or5w22	UTSW	2	87,362,383 (GRCm39)	missense	probably benign	0.01

Posted On

2015-12-18