Mutagenetix > Incidental Mutation

Incidental Mutation 'R1695:Or2y13'

192149

Institutional Source

Beutler Lab

Gene Symbol

Or2y13

Ensembl Gene

ENSMUSG00000107417

Gene Name

olfactory receptor family 2 subfamily Y member 14

Synonyms

Olfr1383, GA_x6K02T2QP88-5912627-5911692, MOR256-56

MMRRC Submission

039728-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R1695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49414552-49415487 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49415162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 204 (V204A)

Ref Sequence

ENSEMBL: ENSMUSP00000145258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077143] [ENSMUST00000204706] [ENSMUST00000213152] [ENSMUST00000213707] [ENSMUST00000213899] [ENSMUST00000217564]

AlphaFold

Q7TQT2

Predicted Effect

probably benign
Transcript: ENSMUST00000077143
AA Change: V204A

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076390
Gene: ENSMUSG00000107417
AA Change: V204A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.4e-44	PFAM
Pfam:7tm_1	41	289	3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204706
AA Change: V204A

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145258
Gene: ENSMUSG00000107417
AA Change: V204A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.4e-44	PFAM
Pfam:7tm_1	41	289	3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213152

Predicted Effect

probably benign
Transcript: ENSMUST00000213707

Predicted Effect

probably benign
Transcript: ENSMUST00000213899

Predicted Effect

probably benign
Transcript: ENSMUST00000217564

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	A	5: 121,638,970 (GRCm39)	T692S	probably benign	Het
Adgrf3	T	A	5: 30,408,553 (GRCm39)	N75I	probably benign	Het
Adgrg5	A	G	8: 95,664,373 (GRCm39)	M328V	probably damaging	Het
Adk	A	G	14: 21,431,668 (GRCm39)	D286G	probably benign	Het
Ankrd28	T	A	14: 31,429,201 (GRCm39)	D917V	probably damaging	Het
Appl2	C	T	10: 83,457,446 (GRCm39)	D141N	probably damaging	Het
Arfgef2	T	C	2: 166,706,632 (GRCm39)	V952A	probably damaging	Het
Arpc2	T	A	1: 74,287,391 (GRCm39)	H70Q	probably damaging	Het
Bpifa5	T	C	2: 154,009,580 (GRCm39)	L261P	probably damaging	Het
Brca1	G	T	11: 101,415,281 (GRCm39)	T951K	probably damaging	Het
Ccdc73	A	T	2: 104,822,450 (GRCm39)	S800C	probably damaging	Het
Cdh15	C	G	8: 123,588,755 (GRCm39)	D276E	probably benign	Het
Cfap119	A	G	7: 127,186,745 (GRCm39)		probably null	Het
Cfap418	T	A	4: 10,874,644 (GRCm39)	D10E	probably damaging	Het
Cfh	T	C	1: 140,030,575 (GRCm39)	I551V	probably damaging	Het
Chd7	T	A	4: 8,833,960 (GRCm39)	L1238Q	probably damaging	Het
Chd9	T	G	8: 91,728,410 (GRCm39)	F1275L	probably damaging	Het
Chrnb3	A	G	8: 27,883,728 (GRCm39)	Y155C	probably damaging	Het
Cltc	C	A	11: 86,591,886 (GRCm39)		probably null	Het
Ctsll3	T	A	13: 60,948,791 (GRCm39)	N55Y	probably damaging	Het
Cysltr2	T	C	14: 73,267,321 (GRCm39)	M130V	probably benign	Het
Daglb	T	C	5: 143,480,361 (GRCm39)	M455T	probably benign	Het
Dbn1	A	G	13: 55,624,521 (GRCm39)	S343P	probably benign	Het
Dnah2	T	A	11: 69,405,517 (GRCm39)	D665V	possibly damaging	Het
Dusp6	T	A	10: 99,099,555 (GRCm39)	M1K	probably null	Het
Eif3m	T	C	2: 104,847,298 (GRCm39)	E12G	probably damaging	Het
Epha2	T	C	4: 141,033,828 (GRCm39)	V29A	possibly damaging	Het
Farp2	T	A	1: 93,488,047 (GRCm39)	N91K	probably damaging	Het
Ferd3l	C	A	12: 33,978,971 (GRCm39)	S161R	probably benign	Het
Fgd2	A	T	17: 29,587,219 (GRCm39)	D315V	possibly damaging	Het
Fhip2a	T	C	19: 57,367,603 (GRCm39)	W337R	probably damaging	Het
Fstl4	T	A	11: 53,056,705 (GRCm39)		probably null	Het
Grm5	A	G	7: 87,685,311 (GRCm39)	D476G	possibly damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hdlbp	A	G	1: 93,364,922 (GRCm39)	L115P	probably damaging	Het
Hk2	T	A	6: 82,721,932 (GRCm39)	N136Y	probably damaging	Het
Hs2st1	G	T	3: 144,140,415 (GRCm39)	A302E	probably benign	Het
Htr7	T	C	19: 35,947,136 (GRCm39)	N293D	probably benign	Het
Ikbkb	T	A	8: 23,163,496 (GRCm39)	E271D	probably benign	Het
Il5ra	A	T	6: 106,715,335 (GRCm39)	Y166*	probably null	Het
Il9r	T	A	11: 32,143,227 (GRCm39)	H244L	probably benign	Het
Itih4	T	C	14: 30,613,456 (GRCm39)		probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Large1	A	T	8: 73,544,710 (GRCm39)	D689E	probably damaging	Het
Limk2	A	G	11: 3,303,275 (GRCm39)		probably null	Het
Med15	A	G	16: 17,540,644 (GRCm39)	F34S	probably damaging	Het
Mprip	C	T	11: 59,643,357 (GRCm39)	T505I	probably damaging	Het
Mtor	T	A	4: 148,623,364 (GRCm39)	N2071K	probably benign	Het
Muc16	A	G	9: 18,408,729 (GRCm39)	L2522P	probably damaging	Het
Myd88	A	T	9: 119,166,908 (GRCm39)		probably null	Het
Myo7a	A	C	7: 97,741,703 (GRCm39)	F484V	possibly damaging	Het
Nme1	A	C	11: 93,851,593 (GRCm39)	L81R	probably benign	Het
Ntn4	T	A	10: 93,569,464 (GRCm39)		probably null	Het
Or4p19	T	C	2: 88,242,444 (GRCm39)	D186G	probably damaging	Het
Or51l4	A	T	7: 103,404,131 (GRCm39)	Y220*	probably null	Het
Otogl	T	G	10: 107,649,878 (GRCm39)	N1159T	probably damaging	Het
Pabpc6	G	A	17: 9,887,003 (GRCm39)	T516I	probably benign	Het
Pcdh1	C	T	18: 38,335,921 (GRCm39)	R238H	probably damaging	Het
Pex5l	T	A	3: 33,008,531 (GRCm39)	N151I	probably benign	Het
Plekha7	T	C	7: 115,727,920 (GRCm39)	N980S	probably damaging	Het
Reg4	C	T	3: 98,143,677 (GRCm39)	T157I	probably benign	Het
Rev3l	A	T	10: 39,700,612 (GRCm39)	E1703V	probably damaging	Het
Rev3l	G	T	10: 39,700,611 (GRCm39)	E1703*	probably null	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Saal1	T	C	7: 46,342,340 (GRCm39)	K368E	probably damaging	Het
Scn9a	C	T	2: 66,335,220 (GRCm39)	W1245*	probably null	Het
Slc38a11	T	A	2: 65,147,315 (GRCm39)	L387F	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sptb	C	A	12: 76,667,641 (GRCm39)	V819L	probably benign	Het
Sptbn1	T	C	11: 30,086,124 (GRCm39)	T1195A	probably benign	Het
Ssna1	C	A	2: 25,162,024 (GRCm39)	V57F	possibly damaging	Het
Stk32a	G	T	18: 43,446,485 (GRCm39)	E312*	probably null	Het
Synpo	A	G	18: 60,736,459 (GRCm39)	F496L	probably benign	Het
Syt15	C	T	14: 33,944,858 (GRCm39)	T135M	probably benign	Het
Tm9sf4	A	G	2: 153,032,832 (GRCm39)	E246G	probably benign	Het
Trim44	T	C	2: 102,187,830 (GRCm39)	M308V	possibly damaging	Het
Unc119b	T	A	5: 115,272,885 (GRCm39)	K29*	probably null	Het
Vim	T	A	2: 13,584,921 (GRCm39)	D367E	probably benign	Het
Virma	T	A	4: 11,494,814 (GRCm39)	N38K	probably damaging	Het
Vmn1r228	A	T	17: 20,996,560 (GRCm39)	D319E	possibly damaging	Het
Vmn2r32	T	A	7: 7,466,991 (GRCm39)	I846F	probably benign	Het
Vps13b	T	C	15: 35,576,667 (GRCm39)	V1025A	probably benign	Het
Vps13c	G	T	9: 67,879,357 (GRCm39)	E566*	probably null	Het

Other mutations in Or2y13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02193:Or2y13	APN	11	49,414,571 (GRCm39)	missense	possibly damaging	0.56
IGL03178:Or2y13	APN	11	49,414,817 (GRCm39)	missense	possibly damaging	0.90
R0089:Or2y13	UTSW	11	49,415,033 (GRCm39)	missense	possibly damaging	0.67
R0112:Or2y13	UTSW	11	49,414,961 (GRCm39)	missense	possibly damaging	0.70
R0243:Or2y13	UTSW	11	49,414,739 (GRCm39)	missense	probably damaging	1.00
R0445:Or2y13	UTSW	11	49,414,784 (GRCm39)	missense	probably damaging	1.00
R0646:Or2y13	UTSW	11	49,415,405 (GRCm39)	missense	probably damaging	1.00
R2142:Or2y13	UTSW	11	49,414,666 (GRCm39)	missense	probably benign	0.00
R3898:Or2y13	UTSW	11	49,415,386 (GRCm39)	missense	probably damaging	0.98
R4085:Or2y13	UTSW	11	49,414,955 (GRCm39)	missense	probably benign	0.23
R5677:Or2y13	UTSW	11	49,414,771 (GRCm39)	missense	probably damaging	0.98
R6187:Or2y13	UTSW	11	49,414,338 (GRCm39)	unclassified	probably benign
R6272:Or2y13	UTSW	11	49,414,953 (GRCm39)	missense	possibly damaging	0.67
R6287:Or2y13	UTSW	11	49,415,072 (GRCm39)	missense	probably damaging	0.99
R6898:Or2y13	UTSW	11	49,414,536 (GRCm39)	unclassified	probably benign
R7007:Or2y13	UTSW	11	49,415,011 (GRCm39)	missense	probably benign	0.15
R7452:Or2y13	UTSW	11	49,415,208 (GRCm39)	missense	probably benign	0.03
R7699:Or2y13	UTSW	11	49,415,381 (GRCm39)	missense	probably damaging	1.00
R7700:Or2y13	UTSW	11	49,415,381 (GRCm39)	missense	probably damaging	1.00
X0017:Or2y13	UTSW	11	49,414,829 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ACCGCTATGTCGCTGTGTGTCATC -3'
(R):5'- AGGGCAGCAAACTTCCCTTCACTC -3'

Sequencing Primer
(F):5'- GTGTGTCATCCACTACACTACACC -3'
(R):5'- TTCACTCCCGGAATACACATGG -3'

Posted On

2014-05-14