Mutagenetix > Incidental Mutation

Incidental Mutation 'R0157:Or2y14'

22928

Institutional Source

Beutler Lab

Gene Symbol

Or2y14

Ensembl Gene

ENSMUSG00000044170

Gene Name

olfactory receptor family 2 subfamily Y member 14

Synonyms

Olfr1384, MOR256-23, GA_x6K02T2QP88-5922712-5921756

MMRRC Submission

038437-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R0157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49404445-49405478 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49404600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 45 (I45T)

Ref Sequence

ENSEMBL: ENSMUSP00000149183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060434] [ENSMUST00000213776]

AlphaFold

Q8VFA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000060434
AA Change: I45T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051954
Gene: ENSMUSG00000044170
AA Change: I45T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	6.9e-48	PFAM
Pfam:7TM_GPCR_Srsx	34	161	4.3e-6	PFAM
Pfam:7tm_1	40	313	2.7e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213776
AA Change: I45T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.2856

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.5%

Validation Efficiency

64% (47/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap2	T	A	11: 80,056,527 (GRCm39)	I180N	probably damaging	Het
Alk	T	A	17: 72,256,840 (GRCm39)	N673I	probably benign	Het
Ankrd7	T	C	6: 18,866,539 (GRCm39)	S20P	probably damaging	Het
Arhgef26	T	G	3: 62,288,392 (GRCm39)	D487E	probably damaging	Het
Arhgef4	A	G	1: 34,845,475 (GRCm39)	D1500G	probably damaging	Het
Arhgef7	A	G	8: 11,835,812 (GRCm39)	I39V	probably damaging	Het
Asap2	T	A	12: 21,256,326 (GRCm39)	I208N	probably damaging	Het
Atad5	T	C	11: 79,980,643 (GRCm39)	V16A	possibly damaging	Het
Atp2b1	T	C	10: 98,835,809 (GRCm39)	I518T	probably damaging	Het
B130006D01Rik	T	C	11: 95,617,211 (GRCm39)		probably benign	Het
BC028528	A	G	3: 95,792,280 (GRCm39)		probably null	Het
Bpifb6	T	A	2: 153,745,886 (GRCm39)	L74Q	probably benign	Het
Bptf	T	C	11: 106,965,484 (GRCm39)	T1122A	possibly damaging	Het
Cacna2d4	T	A	6: 119,289,385 (GRCm39)	D806E	probably benign	Het
Cdhr3	T	C	12: 33,111,649 (GRCm39)	Q287R	possibly damaging	Het
Cdk12	A	G	11: 98,140,602 (GRCm39)		probably benign	Het
Cenpf	T	A	1: 189,384,556 (GRCm39)	T2575S	probably benign	Het
Chd7	T	A	4: 8,833,759 (GRCm39)	I1171N	probably damaging	Het
Chd9	T	C	8: 91,735,464 (GRCm39)		probably null	Het
Ckmt1	A	G	2: 121,193,522 (GRCm39)	T361A	possibly damaging	Het
Clec4d	G	T	6: 123,244,095 (GRCm39)	R68L	probably benign	Het
Csmd2	G	T	4: 128,415,704 (GRCm39)	V2678F	probably benign	Het
Cul7	T	A	17: 46,964,761 (GRCm39)	V131E	possibly damaging	Het
Dab2	T	C	15: 6,459,308 (GRCm39)	S407P	probably benign	Het
Dnah17	C	T	11: 118,017,997 (GRCm39)	G166D	probably benign	Het
F13b	G	A	1: 139,431,585 (GRCm39)	V52I	probably benign	Het
Gjd4	T	C	18: 9,280,549 (GRCm39)	I176M	probably benign	Het
Hoxc11	A	G	15: 102,863,436 (GRCm39)	Y159C	probably damaging	Het
Hydin	T	C	8: 111,026,642 (GRCm39)	I120T	possibly damaging	Het
Il20rb	A	G	9: 100,355,132 (GRCm39)	Y104H	probably damaging	Het
Krtap21-1	A	G	16: 89,200,430 (GRCm39)	C71R	unknown	Het
Lamc1	T	C	1: 153,138,353 (GRCm39)	D167G	probably benign	Het
Lin7c	C	A	2: 109,725,514 (GRCm39)	A73E	probably damaging	Het
Meiosin	T	C	7: 18,840,945 (GRCm39)	H63R	possibly damaging	Het
Mms22l	C	A	4: 24,588,224 (GRCm39)	A952E	probably damaging	Het
Myh3	A	G	11: 66,973,735 (GRCm39)	N136S	probably benign	Het
Ndufb10	T	C	17: 24,943,218 (GRCm39)	T31A	probably benign	Het
Nlrp2	T	C	7: 5,311,769 (GRCm39)	Y37C	possibly damaging	Het
Or2t44	T	C	11: 58,677,885 (GRCm39)	F275S	probably damaging	Het
Orc3	C	A	4: 34,607,130 (GRCm39)		probably null	Het
Pard3b	A	C	1: 62,250,792 (GRCm39)	M512L	probably damaging	Het
Pcdh10	A	G	3: 45,334,136 (GRCm39)	D150G	probably damaging	Het
Pcolce	A	T	5: 137,608,741 (GRCm39)		probably null	Het
Pdcl	A	C	2: 37,242,189 (GRCm39)	I187S	probably damaging	Het
Pkn1	T	C	8: 84,419,449 (GRCm39)	I51M	probably damaging	Het
Pla2g4e	T	A	2: 120,000,662 (GRCm39)	T692S	probably benign	Het
Plcb2	C	A	2: 118,549,022 (GRCm39)	V380F	probably damaging	Het
Pmpcb	A	T	5: 21,947,950 (GRCm39)	I218F	probably damaging	Het
Pms1	A	T	1: 53,234,196 (GRCm39)	Y773*	probably null	Het
Polr2e	C	T	10: 79,872,615 (GRCm39)	G184R	probably damaging	Het
Polr3a	T	C	14: 24,529,254 (GRCm39)	I369V	probably damaging	Het
Pramel21	C	T	4: 143,342,366 (GRCm39)	P158S	probably damaging	Het
Prpf4b	T	C	13: 35,068,014 (GRCm39)		probably benign	Het
Pzp	G	A	6: 128,500,939 (GRCm39)	Q140*	probably null	Het
Qrich2	T	A	11: 116,332,221 (GRCm39)	E2325V	probably damaging	Het
R3hdm2	T	G	10: 127,307,858 (GRCm39)	L373R	probably damaging	Het
Sema3d	A	T	5: 12,558,104 (GRCm39)	D212V	possibly damaging	Het
Sidt2	A	G	9: 45,850,565 (GRCm39)	I850T	probably damaging	Het
Slc22a29	C	T	19: 8,140,106 (GRCm39)	R433H	possibly damaging	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Sox21	G	A	14: 118,473,354 (GRCm39)		probably benign	Het
Steap3	A	G	1: 120,155,379 (GRCm39)	*527R	probably null	Het
Svep1	T	C	4: 58,069,830 (GRCm39)	E2652G	possibly damaging	Het
Taar2	T	A	10: 23,817,389 (GRCm39)	F310I	probably damaging	Het
Tasor2	C	A	13: 3,625,550 (GRCm39)	V1467L	probably benign	Het
Tecta	A	G	9: 42,286,307 (GRCm39)	V783A	probably benign	Het
Vmn1r173	T	A	7: 23,401,822 (GRCm39)	I19N	probably damaging	Het
Vwa5b1	T	A	4: 138,332,190 (GRCm39)	M276L	probably benign	Het
Yeats2	A	C	16: 20,040,427 (GRCm39)	*142C	probably null	Het
Zfp26	G	T	9: 20,349,166 (GRCm39)	T466K	probably benign	Het
Zfp426	T	C	9: 20,382,432 (GRCm39)	N171S	probably benign	Het

Other mutations in Or2y14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02212:Or2y14	APN	11	49,404,737 (GRCm39)	missense	probably damaging	0.98
IGL02972:Or2y14	APN	11	49,404,918 (GRCm39)	missense	probably damaging	1.00
R1106:Or2y14	UTSW	11	49,404,519 (GRCm39)	missense	probably damaging	1.00
R1213:Or2y14	UTSW	11	49,405,421 (GRCm39)	makesense	probably null
R3768:Or2y14	UTSW	11	49,404,600 (GRCm39)	missense	probably damaging	1.00
R4191:Or2y14	UTSW	11	49,404,639 (GRCm39)	missense	probably damaging	1.00
R4708:Or2y14	UTSW	11	49,405,216 (GRCm39)	nonsense	probably null
R5443:Or2y14	UTSW	11	49,405,262 (GRCm39)	missense	probably damaging	0.98
R5770:Or2y14	UTSW	11	49,405,419 (GRCm39)	missense	unknown
R6245:Or2y14	UTSW	11	49,404,992 (GRCm39)	missense	possibly damaging	0.94
R6336:Or2y14	UTSW	11	49,405,369 (GRCm39)	missense	probably damaging	0.99
R7652:Or2y14	UTSW	11	49,404,512 (GRCm39)	missense	probably damaging	1.00
R8070:Or2y14	UTSW	11	49,404,941 (GRCm39)	missense	probably damaging	1.00
R8147:Or2y14	UTSW	11	49,405,050 (GRCm39)	missense	probably benign	0.02
R9289:Or2y14	UTSW	11	49,404,635 (GRCm39)	missense	probably damaging	1.00
R9551:Or2y14	UTSW	11	49,404,942 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTGTGTCTCCAGCCTACAAAACC -3'
(R):5'- CATGCACCCAGCATAGCTGATAGTC -3'

Sequencing Primer
(F):5'- GCAAGGCTGTCATCTAGCTTTAAC -3'
(R):5'- GCATAGCTGATAGTCTGATCACC -3'

Posted On

2013-04-16