Mutagenetix > Incidental Mutation

Incidental Mutation 'R5667:Or2y16'

444485

Institutional Source

Beutler Lab

Gene Symbol

Or2y16

Ensembl Gene

ENSMUSG00000047702

Gene Name

olfactory receptor family 2 subfamily Y member 16

Synonyms

Olfr1388, MOR256-28, GA_x6K02T2QP88-5991012-5990077

MMRRC Submission

043310-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R5667 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49334680-49335615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49335140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 154 (V154A)

Ref Sequence

ENSEMBL: ENSMUSP00000150160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055584] [ENSMUST00000215226]

AlphaFold

Q8VFA3

Predicted Effect

probably benign
Transcript: ENSMUST00000055584
AA Change: V154A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000053834
Gene: ENSMUSG00000047702
AA Change: V154A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	3.7e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	154	9.8e-7	PFAM
Pfam:7tm_1	41	289	7.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215226
AA Change: V154A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.1115

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

96% (54/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Adamts16	A	T	13: 70,984,494 (GRCm39)	Y56*	probably null	Het
Ak2	T	A	4: 128,902,040 (GRCm39)	F238I	probably damaging	Het
Akap8l	T	C	17: 32,557,266 (GRCm39)	Y115C	probably damaging	Het
Alms1	A	G	6: 85,673,753 (GRCm39)	D3116G	probably damaging	Het
Arhgap24	T	G	5: 102,994,037 (GRCm39)		probably null	Het
Arhgap45	A	G	10: 79,861,310 (GRCm39)	E491G	probably damaging	Het
Atp8b1	C	T	18: 64,714,994 (GRCm39)	C86Y	probably damaging	Het
Atxn1	T	C	13: 45,710,853 (GRCm39)	K693R	probably benign	Het
Bltp1	A	T	3: 36,971,826 (GRCm39)	T520S	probably benign	Het
Btbd10	T	C	7: 112,931,931 (GRCm39)	K165R	probably damaging	Het
Capn11	C	T	17: 45,950,600 (GRCm39)	R293Q	possibly damaging	Het
Chordc1	T	G	9: 18,206,628 (GRCm39)	F33V	probably damaging	Het
Clca4b	G	A	3: 144,627,624 (GRCm39)	T449I	probably benign	Het
Clip4	A	C	17: 72,096,878 (GRCm39)	M1L	probably damaging	Het
Cyfip1	C	T	7: 55,523,478 (GRCm39)	T90I	probably benign	Het
Cyp4v3	G	T	8: 45,761,572 (GRCm39)	T417K	possibly damaging	Het
Exoc3l4	T	C	12: 111,389,851 (GRCm39)	I142T	probably damaging	Het
Flnb	T	A	14: 7,890,843 (GRCm38)	I575N	probably benign	Het
Foxa1	A	T	12: 57,589,081 (GRCm39)	S380T	probably benign	Het
Foxi2	A	T	7: 135,012,668 (GRCm39)		probably null	Het
Gad1-ps	A	T	10: 99,280,395 (GRCm39)		noncoding transcript	Het
Gpa33	A	G	1: 165,974,360 (GRCm39)	T66A	possibly damaging	Het
Gpr45	A	G	1: 43,072,218 (GRCm39)	Y287C	probably damaging	Het
H2-Eb1	C	A	17: 34,533,229 (GRCm39)	Y150*	probably null	Het
Hsd17b8	T	C	17: 34,245,435 (GRCm39)	D233G	probably null	Het
Ifna6	A	T	4: 88,745,906 (GRCm39)	Q85L	probably damaging	Het
Ivns1abp	G	T	1: 151,229,760 (GRCm39)	L149F	probably benign	Het
Kank4	A	G	4: 98,653,698 (GRCm39)		probably null	Het
Katnip	T	A	7: 125,442,627 (GRCm39)		probably null	Het
Lama2	A	T	10: 27,066,540 (GRCm39)	C1114S	probably damaging	Het
Lmbr1l	A	C	15: 98,805,489 (GRCm39)	D337E	possibly damaging	Het
Lrrn3	A	C	12: 41,502,297 (GRCm39)	S673R	possibly damaging	Het
Ly75	T	C	2: 60,138,655 (GRCm39)	D1404G	probably damaging	Het
Muc4	A	G	16: 32,575,011 (GRCm39)	T1199A	probably benign	Het
Mycn	A	T	12: 12,990,045 (GRCm39)	M117K	possibly damaging	Het
Nalcn	A	G	14: 123,532,818 (GRCm39)	I1314T	probably damaging	Het
Nod1	T	C	6: 54,910,561 (GRCm39)	T869A	probably benign	Het
Or4k39	C	T	2: 111,238,818 (GRCm39)		noncoding transcript	Het
Plekhg2	A	T	7: 28,067,064 (GRCm39)	I356N	probably damaging	Het
Ptpru	T	A	4: 131,547,501 (GRCm39)	Y112F	possibly damaging	Het
Rpl36al	G	A	12: 69,229,897 (GRCm39)	P5L	possibly damaging	Het
Ryr2	A	G	13: 11,774,722 (GRCm39)	W1145R	probably damaging	Het
Semp2l2b	T	A	10: 21,942,742 (GRCm39)	T413S	possibly damaging	Het
Slc11a2	A	G	15: 100,301,169 (GRCm39)	Y295H	probably damaging	Het
Slc22a6	A	G	19: 8,599,148 (GRCm39)		probably null	Het
Styxl1	A	G	5: 135,785,977 (GRCm39)		probably null	Het
Tmc6	A	G	11: 117,666,441 (GRCm39)	S288P	possibly damaging	Het
Trpv4	A	G	5: 114,772,617 (GRCm39)	L371P	probably damaging	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Usp8	A	G	2: 126,584,345 (GRCm39)	D518G	probably benign	Het
Washc4	T	C	10: 83,405,892 (GRCm39)	S463P	probably damaging	Het

Other mutations in Or2y16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Or2y16	APN	11	49,335,201 (GRCm39)	missense	probably damaging	1.00
IGL01346:Or2y16	APN	11	49,335,595 (GRCm39)	missense	probably benign	0.00
IGL01943:Or2y16	APN	11	49,335,015 (GRCm39)	nonsense	probably null
IGL03343:Or2y16	APN	11	49,335,070 (GRCm39)	missense	probably damaging	0.97
R1530:Or2y16	UTSW	11	49,334,732 (GRCm39)	missense	probably benign	0.27
R1699:Or2y16	UTSW	11	49,335,116 (GRCm39)	missense	possibly damaging	0.88
R2059:Or2y16	UTSW	11	49,335,278 (GRCm39)	missense	probably damaging	0.99
R2198:Or2y16	UTSW	11	49,334,786 (GRCm39)	missense	probably benign	0.01
R4782:Or2y16	UTSW	11	49,334,696 (GRCm39)	missense	probably benign	0.00
R4885:Or2y16	UTSW	11	49,335,449 (GRCm39)	missense	probably damaging	0.97
R4966:Or2y16	UTSW	11	49,334,945 (GRCm39)	missense	possibly damaging	0.94
R5165:Or2y16	UTSW	11	49,335,203 (GRCm39)	missense	probably damaging	1.00
R5173:Or2y16	UTSW	11	49,334,713 (GRCm39)	missense	probably benign	0.12
R5671:Or2y16	UTSW	11	49,335,140 (GRCm39)	missense	probably benign	0.00
R5836:Or2y16	UTSW	11	49,335,353 (GRCm39)	missense	probably damaging	1.00
R6173:Or2y16	UTSW	11	49,335,299 (GRCm39)	missense	probably benign	0.01
R6801:Or2y16	UTSW	11	49,335,169 (GRCm39)	missense	probably benign	0.10
R6864:Or2y16	UTSW	11	49,334,767 (GRCm39)	missense	probably benign
R6876:Or2y16	UTSW	11	49,335,068 (GRCm39)	missense	probably damaging	1.00
R7386:Or2y16	UTSW	11	49,335,227 (GRCm39)	missense	possibly damaging	0.95
R8119:Or2y16	UTSW	11	49,334,953 (GRCm39)	missense	probably damaging	1.00
R8870:Or2y16	UTSW	11	49,335,350 (GRCm39)	missense	probably damaging	1.00
R9118:Or2y16	UTSW	11	49,335,409 (GRCm39)	missense	probably benign	0.37
R9780:Or2y16	UTSW	11	49,335,014 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TATGAAAGGTGTGTGGCTCAGC -3'
(R):5'- TGACTTGACCTTCAGTACCGC -3'

Sequencing Primer
(F):5'- GTGTGTGGCTCAGCTCCTC -3'
(R):5'- CGCCCTGGTGATATGAGCATAG -3'

Posted On

2016-11-09