Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02176:Or2y17'

283091

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2y17

Ensembl Gene

ENSMUSG00000045421

Gene Name

olfactory receptor family 2 subfamily Y member 17

Synonyms

GA_x6K02T2QP88-6094111-6093176, MOR256-2, Olfr1390

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL02176

Quality Score

Status

Chromosome

Chromosomal Location

49231361-49232296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49232133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 258 (Y258C)

Ref Sequence

ENSEMBL: ENSMUSP00000151059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062719] [ENSMUST00000215014]

AlphaFold

Q8VGW9

Predicted Effect

probably benign
Transcript: ENSMUST00000062719
AA Change: Y258C

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053611
Gene: ENSMUSG00000045421
AA Change: Y258C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2.5e-45	PFAM
Pfam:7TM_GPCR_Srsx	35	230	2.8e-6	PFAM
Pfam:7tm_1	41	289	2.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215014
AA Change: Y258C

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	G	T	10: 20,846,815 (GRCm39)	R415L	probably benign	Het
Ankle1	C	A	8: 71,858,903 (GRCm39)	H45Q	probably damaging	Het
Anks1b	A	T	10: 89,878,530 (GRCm39)	H113L	probably damaging	Het
Arhgap33	T	A	7: 30,223,476 (GRCm39)	H851L	possibly damaging	Het
Atp12a	C	T	14: 56,624,636 (GRCm39)	S972L	probably damaging	Het
Atrip	T	C	9: 108,896,114 (GRCm39)	D301G	probably benign	Het
Bckdk	A	G	7: 127,505,545 (GRCm39)	T223A	probably benign	Het
C3	C	A	17: 57,533,337 (GRCm39)		probably benign	Het
C8g	A	G	2: 25,389,122 (GRCm39)	S154P	probably damaging	Het
Casz1	A	G	4: 149,019,076 (GRCm39)	D459G	probably damaging	Het
Cdca7	A	G	2: 72,314,988 (GRCm39)	T293A	probably damaging	Het
Cmya5	T	A	13: 93,226,658 (GRCm39)	D2810V	probably damaging	Het
CN725425	G	A	15: 91,130,024 (GRCm39)	V296I	probably benign	Het
Col17a1	A	G	19: 47,639,658 (GRCm39)	M1077T	probably benign	Het
Ddhd1	A	T	14: 45,854,057 (GRCm39)	H426Q	probably damaging	Het
Dpp6	C	T	5: 27,928,575 (GRCm39)	T799M	probably damaging	Het
Efs	C	T	14: 55,158,499 (GRCm39)	G53D	probably damaging	Het
Fer1l4	A	G	2: 155,890,371 (GRCm39)	V221A	probably benign	Het
Gabre	G	A	X: 71,318,259 (GRCm39)	Q17*	probably null	Het
Gpld1	T	C	13: 25,168,192 (GRCm39)		probably null	Het
Gpr107	T	A	2: 31,058,858 (GRCm39)	V116D	probably benign	Het
Huwe1	T	C	X: 150,686,964 (GRCm39)	S2283P	possibly damaging	Het
Ksr1	A	G	11: 78,911,617 (GRCm39)	S722P	probably benign	Het
Lmbrd2	A	G	15: 9,182,661 (GRCm39)	E532G	probably damaging	Het
Lrfn1	T	C	7: 28,158,111 (GRCm39)		probably benign	Het
Lrrc4c	A	G	2: 97,460,598 (GRCm39)	D408G	probably damaging	Het
Mbp	A	G	18: 82,572,670 (GRCm39)	E122G	probably damaging	Het
Myo9a	T	A	9: 59,777,836 (GRCm39)	D1197E	probably benign	Het
Ncor1	A	T	11: 62,220,485 (GRCm39)		probably benign	Het
Pdcd1lg2	A	G	19: 29,414,732 (GRCm39)	E53G	probably benign	Het
Phex	G	T	X: 156,051,489 (GRCm39)	A469E	probably damaging	Het
Pigo	A	G	4: 43,019,352 (GRCm39)	S957P	probably benign	Het
Ppargc1b	T	A	18: 61,443,946 (GRCm39)	R406*	probably null	Het
Ppargc1b	C	A	18: 61,443,945 (GRCm39)	R422I	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Thnsl1	G	T	2: 21,216,665 (GRCm39)	A140S	possibly damaging	Het
Tm9sf3	A	G	19: 41,235,076 (GRCm39)		probably benign	Het
Tma7	T	A	9: 108,911,153 (GRCm39)		probably benign	Het
Tmtc2	T	G	10: 105,184,354 (GRCm39)	S514R	probably benign	Het
Unc79	G	A	12: 102,965,006 (GRCm39)		probably null	Het
Wdr89	A	T	12: 75,679,897 (GRCm39)	I119N	probably damaging	Het
Wiz	C	A	17: 32,575,876 (GRCm39)	R843S	probably damaging	Het
Zfp275	T	A	X: 72,396,889 (GRCm39)	S12T	probably damaging	Het

Other mutations in Or2y17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02334:Or2y17	APN	11	49,232,018 (GRCm39)	missense	probably benign	0.09
IGL02958:Or2y17	APN	11	49,232,127 (GRCm39)	missense	probably benign	0.44
PIT4402001:Or2y17	UTSW	11	49,232,226 (GRCm39)	missense	probably damaging	1.00
R0149:Or2y17	UTSW	11	49,231,641 (GRCm39)	missense	probably benign	0.07
R0361:Or2y17	UTSW	11	49,231,641 (GRCm39)	missense	probably benign	0.07
R0417:Or2y17	UTSW	11	49,231,500 (GRCm39)	missense	possibly damaging	0.88
R1187:Or2y17	UTSW	11	49,231,417 (GRCm39)	missense	probably damaging	1.00
R1859:Or2y17	UTSW	11	49,232,211 (GRCm39)	missense	probably damaging	1.00
R1882:Or2y17	UTSW	11	49,231,539 (GRCm39)	missense	probably damaging	1.00
R1885:Or2y17	UTSW	11	49,231,662 (GRCm39)	missense	probably damaging	1.00
R2193:Or2y17	UTSW	11	49,231,770 (GRCm39)	missense	possibly damaging	0.70
R2322:Or2y17	UTSW	11	49,231,476 (GRCm39)	missense	probably damaging	1.00
R3929:Or2y17	UTSW	11	49,231,820 (GRCm39)	missense	probably benign	0.00
R4739:Or2y17	UTSW	11	49,232,148 (GRCm39)	missense	probably benign	0.00
R4939:Or2y17	UTSW	11	49,231,376 (GRCm39)	missense	probably benign	0.00
R5977:Or2y17	UTSW	11	49,231,592 (GRCm39)	missense	probably damaging	0.96
R6338:Or2y17	UTSW	11	49,231,694 (GRCm39)	missense	probably benign	0.30
R6864:Or2y17	UTSW	11	49,231,580 (GRCm39)	missense	probably damaging	0.99
R7045:Or2y17	UTSW	11	49,231,757 (GRCm39)	missense	probably damaging	0.96
R7276:Or2y17	UTSW	11	49,231,821 (GRCm39)	missense	probably benign	0.33
R7339:Or2y17	UTSW	11	49,231,875 (GRCm39)	missense	not run
R8355:Or2y17	UTSW	11	49,231,592 (GRCm39)	missense	possibly damaging	0.89
R8497:Or2y17	UTSW	11	49,231,721 (GRCm39)	missense	probably damaging	1.00
R8715:Or2y17	UTSW	11	49,232,154 (GRCm39)	missense	probably damaging	1.00
R9587:Or2y17	UTSW	11	49,232,007 (GRCm39)	missense	probably benign	0.22

Posted On

2015-04-16