Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02457:Or2q1'

294451

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2q1

Ensembl Gene

ENSMUSG00000054431

Gene Name

olfactory receptor family 2 subfamily Q member 1

Synonyms

Olfr450, GA_x6K02T2P3E9-4742413-4741481, MOR257-3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

IGL02457

Quality Score

Status

Chromosome

Chromosomal Location

42794407-42795339 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42795176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 257 (I257N)

Ref Sequence

ENSEMBL: ENSMUSP00000151908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067503] [ENSMUST00000218832]

AlphaFold

Q8VF81

Predicted Effect

probably damaging
Transcript: ENSMUST00000067503
AA Change: I257N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068823
Gene: ENSMUSG00000054431
AA Change: I257N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	308	8.2e-49	PFAM
Pfam:7tm_1	43	291	1.2e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000218832
AA Change: I257N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; 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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	G	2: 181,136,127 (GRCm39)	D343G	probably benign	Het
Acot10	T	C	15: 20,666,229 (GRCm39)	S171G	possibly damaging	Het
Actr3b	T	C	5: 26,054,160 (GRCm39)		probably null	Het
Adamts17	T	C	7: 66,677,562 (GRCm39)	M492T	probably damaging	Het
Akap4	A	C	X: 6,943,707 (GRCm39)	N670T	probably benign	Het
Atrip	A	G	9: 108,894,299 (GRCm39)	S55P	possibly damaging	Het
Bend3	A	T	10: 43,385,946 (GRCm39)	E113V	probably damaging	Het
Ccdc158	A	C	5: 92,797,907 (GRCm39)	I411S	probably damaging	Het
Cfap97	G	T	8: 46,623,315 (GRCm39)	C235F	possibly damaging	Het
Chil4	T	C	3: 106,121,715 (GRCm39)	N45D	probably benign	Het
Cripto	C	T	9: 110,771,691 (GRCm39)	C32Y	probably damaging	Het
D430041D05Rik	A	G	2: 104,079,690 (GRCm39)	V1131A	probably damaging	Het
Defb38	T	C	8: 19,076,552 (GRCm39)		probably benign	Het
Dnah10	T	A	5: 124,866,860 (GRCm39)	W2260R	probably damaging	Het
Ecsit	A	G	9: 21,989,500 (GRCm39)	S14P	probably damaging	Het
Eif3l	T	C	15: 78,962,296 (GRCm39)	F106L	probably benign	Het
Erich5	G	T	15: 34,470,999 (GRCm39)	G76V	probably damaging	Het
Evpl	A	G	11: 116,120,939 (GRCm39)	L432P	possibly damaging	Het
Fbxw10	T	C	11: 62,765,808 (GRCm39)	F698L	probably damaging	Het
Frem2	A	T	3: 53,428,470 (GRCm39)	S2866T	probably damaging	Het
Fuca1	G	A	4: 135,662,073 (GRCm39)	V334I	probably benign	Het
Hprt1	T	A	X: 52,091,010 (GRCm39)	H60Q	probably benign	Het
Kirrel2	T	C	7: 30,152,165 (GRCm39)	N481S	probably damaging	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Lilrb4b	T	A	10: 51,357,334 (GRCm39)	Y57N	probably benign	Het
Lix1l	A	G	3: 96,521,792 (GRCm39)	Y126C	probably damaging	Het
Lox	T	C	18: 52,654,388 (GRCm39)	D347G	probably damaging	Het
Mak16	C	T	8: 31,654,753 (GRCm39)	R147Q	possibly damaging	Het
Ndst2	G	A	14: 20,779,622 (GRCm39)	A206V	possibly damaging	Het
Or1ak2	A	T	2: 36,827,760 (GRCm39)	I210F	probably damaging	Het
Phldb1	T	C	9: 44,627,771 (GRCm39)	M225V	probably benign	Het
Pofut1	C	T	2: 153,090,516 (GRCm39)	Q137*	probably null	Het
Polr2a	T	C	11: 69,634,076 (GRCm39)		probably benign	Het
Prdm5	T	A	6: 65,858,100 (GRCm39)	L388Q	probably damaging	Het
Rad51c	A	G	11: 87,271,681 (GRCm39)	S344P	possibly damaging	Het
Scart1	G	A	7: 139,800,308 (GRCm39)	G30S	probably benign	Het
Sdk1	C	T	5: 141,938,771 (GRCm39)	P398L	probably damaging	Het
Sec63	G	A	10: 42,677,729 (GRCm39)		probably benign	Het
Sgo1	A	T	17: 53,983,989 (GRCm39)	L463Q	probably damaging	Het
Slc5a6	A	G	5: 31,198,002 (GRCm39)	L291P	probably damaging	Het
Smarcb1	T	C	10: 75,757,205 (GRCm39)	T9A	probably benign	Het
Sp3	A	G	2: 72,801,813 (GRCm39)	W67R	probably damaging	Het
Ssxb9	A	C	X: 21,041,234 (GRCm39)	S23A	probably benign	Het
Syne1	A	G	10: 5,292,167 (GRCm39)	L1367S	probably damaging	Het
Tbc1d23	T	A	16: 56,990,754 (GRCm39)	I690F	probably damaging	Het
Tmed5	A	T	5: 108,272,416 (GRCm39)	S227R	probably benign	Het
Tnrc6c	T	A	11: 117,613,803 (GRCm39)	S814T	probably benign	Het
Trbv2	C	T	6: 41,024,905 (GRCm39)	T107I	probably benign	Het
Trpm6	T	C	19: 18,803,155 (GRCm39)	V866A	probably damaging	Het
Trpm6	A	T	19: 18,804,762 (GRCm39)	K905*	probably null	Het
Ttn	A	G	2: 76,539,654 (GRCm39)	V34444A	probably benign	Het
Vmn1r86	C	T	7: 12,836,707 (GRCm39)	M56I	probably benign	Het
Vmn2r17	A	C	5: 109,601,012 (GRCm39)	D770A	probably damaging	Het
Wnk4	T	C	11: 101,160,389 (GRCm39)		probably benign	Het
Xaf1	T	C	11: 72,194,257 (GRCm39)	M46T	possibly damaging	Het

Other mutations in Or2q1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01528:Or2q1	APN	6	42,795,208 (GRCm39)	missense	probably damaging	0.99
IGL01720:Or2q1	APN	6	42,794,527 (GRCm39)	missense	probably benign	0.00
R0376:Or2q1	UTSW	6	42,795,226 (GRCm39)	missense	probably benign	0.00
R1804:Or2q1	UTSW	6	42,795,155 (GRCm39)	missense	possibly damaging	0.66
R1823:Or2q1	UTSW	6	42,795,202 (GRCm39)	missense	possibly damaging	0.49
R2115:Or2q1	UTSW	6	42,794,431 (GRCm39)	missense	possibly damaging	0.65
R4817:Or2q1	UTSW	6	42,794,896 (GRCm39)	missense	possibly damaging	0.78
R5730:Or2q1	UTSW	6	42,795,094 (GRCm39)	nonsense	probably null
R5938:Or2q1	UTSW	6	42,794,701 (GRCm39)	missense	probably damaging	1.00
R6514:Or2q1	UTSW	6	42,794,930 (GRCm39)	missense	probably damaging	0.97
R7050:Or2q1	UTSW	6	42,794,504 (GRCm39)	missense	possibly damaging	0.61
R7211:Or2q1	UTSW	6	42,794,950 (GRCm39)	missense	probably benign	0.41
R8279:Or2q1	UTSW	6	42,794,557 (GRCm39)	missense	probably damaging	1.00
R8863:Or2q1	UTSW	6	42,794,780 (GRCm39)	missense	probably damaging	1.00
R8933:Or2q1	UTSW	6	42,794,950 (GRCm39)	missense	probably benign	0.36
R9039:Or2q1	UTSW	6	42,794,545 (GRCm39)	missense	probably damaging	0.99
R9416:Or2q1	UTSW	6	42,795,197 (GRCm39)	missense	probably benign	0.01
Z1177:Or2q1	UTSW	6	42,795,133 (GRCm39)	missense	possibly damaging	0.93
Z1189:Or2q1	UTSW	6	42,794,447 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16