Mutagenetix > Incidental Mutation

Incidental Mutation 'R6801:Or2y16'

533349

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

044914-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R6801 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49334680-49335615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49335169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 164 (M164V)

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: M164V

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000053834
Gene: ENSMUSG00000047702
AA Change: M164V

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: M164V

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.8%

Validation Efficiency

100% (49/49)

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
Adam3	T	A	8: 25,174,680 (GRCm39)	Y695F	possibly damaging	Het
Arhgap20	A	G	9: 51,759,892 (GRCm39)	D545G	probably damaging	Het
Arhgef11	A	G	3: 87,643,159 (GRCm39)	E1457G	possibly damaging	Het
Atp2b4	T	A	1: 133,655,524 (GRCm39)	I747F	probably damaging	Het
Bche	T	A	3: 73,609,133 (GRCm39)	I98L	probably benign	Het
C2cd6	TC	T	1: 59,133,742 (GRCm39)		probably null	Het
Ccdc90b	A	G	7: 92,216,943 (GRCm39)	T72A	probably benign	Het
Chrd	A	G	16: 20,554,497 (GRCm39)	E352G	possibly damaging	Het
Csmd2	A	G	4: 128,277,743 (GRCm39)	E953G	probably benign	Het
Dchs2	T	A	3: 83,035,841 (GRCm39)	M196K	probably benign	Het
Ddx10	G	A	9: 53,159,207 (GRCm39)	Q33*	probably null	Het
Dennd4b	T	A	3: 90,176,086 (GRCm39)	V201E	probably damaging	Het
Fbn2	T	A	18: 58,246,420 (GRCm39)	H494L	probably benign	Het
Fbxw13	G	A	9: 109,023,795 (GRCm39)	A83V	probably null	Het
Fxr1	A	G	3: 34,108,452 (GRCm39)	D321G	possibly damaging	Het
Galm	A	G	17: 80,489,053 (GRCm39)	H233R	probably benign	Het
Gm7298	A	G	6: 121,752,768 (GRCm39)	T837A	probably benign	Het
Gmppa	C	G	1: 75,418,391 (GRCm39)	S258C	possibly damaging	Het
Hk1	T	G	10: 62,116,910 (GRCm39)	E645A	probably damaging	Het
Igkv1-132	A	G	6: 67,737,324 (GRCm39)	T97A	probably damaging	Het
Kcnc1	T	C	7: 46,084,716 (GRCm39)	F547L	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lingo2	T	A	4: 35,709,566 (GRCm39)	E138V	probably damaging	Het
Myb	T	C	10: 21,020,865 (GRCm39)		probably null	Het
Mybl1	A	G	1: 9,753,353 (GRCm39)	V243A	probably benign	Het
Mylk4	C	T	13: 32,912,393 (GRCm39)	S189N	probably benign	Het
Or13c7	T	A	4: 43,855,206 (GRCm39)	L299*	probably null	Het
Or4k77	A	T	2: 111,199,394 (GRCm39)	Q139L	probably benign	Het
Or4x12-ps1	A	T	2: 89,915,953 (GRCm39)	I284N	probably damaging	Het
Or5w1b	A	G	2: 87,475,667 (GRCm39)	Y267H	probably benign	Het
Or8g19	A	T	9: 39,055,506 (GRCm39)	I37F	probably benign	Het
Oxld1	A	T	11: 120,347,650 (GRCm39)	D182E	probably damaging	Het
Phf13	A	T	4: 152,076,017 (GRCm39)	L295Q	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Prss33	A	G	17: 24,053,813 (GRCm39)	L88P	possibly damaging	Het
Ralgds	A	G	2: 28,438,448 (GRCm39)	Y596C	probably damaging	Het
Rftn2	A	G	1: 55,233,418 (GRCm39)	I379T	possibly damaging	Het
Rnf214	C	T	9: 45,807,403 (GRCm39)	E267K	probably damaging	Het
Rpp14	T	C	14: 8,083,717 (GRCm38)		probably benign	Het
Rpusd2	A	G	2: 118,865,876 (GRCm39)	Y191C	probably damaging	Het
Serpinb9c	T	A	13: 33,341,807 (GRCm39)	M1L	probably benign	Het
Shroom3	A	G	5: 93,088,795 (GRCm39)	D434G	probably damaging	Het
Smc5	G	A	19: 23,192,010 (GRCm39)	S888L	probably benign	Het
Suv39h2	C	T	2: 3,465,458 (GRCm39)	R299K	probably benign	Het
Trappc4	A	T	9: 44,315,685 (GRCm39)	I176N	probably damaging	Het
Trim12c	A	T	7: 103,997,337 (GRCm39)	V73E	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly 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
R5667:Or2y16	UTSW	11	49,335,140 (GRCm39)	missense	probably benign	0.00
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
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'- CTGGCATCTACAGAGTGTGTG -3'
(R):5'- AAGTCCCAAAAGCTTTTCTGCG -3'

Sequencing Primer
(F):5'- CATCTACAGAGTGTGTGCTATTG -3'
(R):5'- AAAAGCTTTTCTGCGTCCAG -3'

Posted On

2018-09-12