Mutagenetix > Incidental Mutation

Incidental Mutation 'R6245:Or2y14'

505539

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

044403-MU

Accession Numbers

Essential gene?

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

Stock #

R6245 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49404445-49405478 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49404992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 176 (F176I)

Ref Sequence

ENSEMBL: ENSMUSP00000149183 (fasta)

Gene Model

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

AlphaFold

Q8VFA8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060434
AA Change: F176I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051954
Gene: ENSMUSG00000044170
AA Change: F176I

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

possibly damaging
Transcript: ENSMUST00000213776
AA Change: F176I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,026,249 (GRCm39)	I937T	probably damaging	Het
Adgrl3	T	A	5: 81,836,403 (GRCm39)	N720K	probably benign	Het
Akr1c21	T	G	13: 4,625,231 (GRCm39)	V54G	possibly damaging	Het
Alpi	G	T	1: 87,028,556 (GRCm39)	D111E	probably damaging	Het
Armc3	C	T	2: 19,253,516 (GRCm39)	T219M	probably damaging	Het
Bms1	T	A	6: 118,373,797 (GRCm39)	E780V	probably damaging	Het
Ccdc159	T	C	9: 21,846,864 (GRCm39)	S244P	probably damaging	Het
Cdon	T	C	9: 35,388,235 (GRCm39)	W737R	probably damaging	Het
Chdh	T	A	14: 29,757,262 (GRCm39)	V395D	probably damaging	Het
Col22a1	C	A	15: 71,845,665 (GRCm39)	D366Y	probably damaging	Het
Cplane1	T	C	15: 8,207,902 (GRCm39)	Y218H	probably benign	Het
Crnkl1	T	A	2: 145,770,051 (GRCm39)	N264I	probably benign	Het
Ctnnd2	T	C	15: 30,905,894 (GRCm39)	L847P	probably damaging	Het
Cyp4a31	A	C	4: 115,428,545 (GRCm39)	T382P	possibly damaging	Het
Dcaf8	A	T	1: 171,993,434 (GRCm39)	M1L	probably benign	Het
Ddx31	T	A	2: 28,734,994 (GRCm39)	F52I	probably benign	Het
Dynlt5	A	G	4: 102,845,864 (GRCm39)	N32S	probably benign	Het
Efcab3	A	T	11: 104,675,834 (GRCm39)	Y1542F	probably benign	Het
Eps15	G	A	4: 109,240,063 (GRCm39)	S852N	possibly damaging	Het
Fchsd1	A	T	18: 38,095,828 (GRCm39)	L552Q	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Frem2	T	C	3: 53,563,245 (GRCm39)	M421V	probably benign	Het
Gm1110	T	G	9: 26,832,043 (GRCm39)	H36P	probably benign	Het
Hadha	C	T	5: 30,325,042 (GRCm39)		probably null	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Intu	C	A	3: 40,629,756 (GRCm39)	T362K	probably damaging	Het
Jaml	C	T	9: 45,009,217 (GRCm39)	T248I	probably damaging	Het
Kcnj1	A	T	9: 32,308,163 (GRCm39)	S176C	probably damaging	Het
Kcnj9	A	G	1: 172,153,704 (GRCm39)	L140P	probably damaging	Het
Kif7	T	C	7: 79,351,891 (GRCm39)	K957R	probably damaging	Het
Klc4	T	A	17: 46,947,605 (GRCm39)	I366F	probably damaging	Het
Lamb2	A	G	9: 108,365,398 (GRCm39)		probably null	Het
Madd	T	C	2: 91,008,449 (GRCm39)	D151G	probably benign	Het
Man2a1	C	A	17: 65,017,821 (GRCm39)	A689E	probably damaging	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Msmp	T	C	4: 43,583,909 (GRCm39)	Y48C	probably damaging	Het
Muc6	T	C	7: 141,235,086 (GRCm39)	N567S	probably damaging	Het
Nrap	A	G	19: 56,342,653 (GRCm39)	Y748H	probably damaging	Het
Nrap	C	T	19: 56,368,307 (GRCm39)	A192T	possibly damaging	Het
Or2p2	T	A	13: 21,256,860 (GRCm39)	T204S	possibly damaging	Het
Or5w15	G	C	2: 87,568,240 (GRCm39)	Q143E	possibly damaging	Het
Pcdhb8	T	G	18: 37,490,222 (GRCm39)	D633E	possibly damaging	Het
Pcdhb9	G	A	18: 37,536,207 (GRCm39)	V734M	probably damaging	Het
Plscr1	T	C	9: 92,141,374 (GRCm39)	Y21H	unknown	Het
Ptk2b	G	T	14: 66,400,515 (GRCm39)	P767T	probably damaging	Het
Ptprz1	T	C	6: 23,051,989 (GRCm39)	Y1424H	probably damaging	Het
Sec31a	T	A	5: 100,534,043 (GRCm39)	Q118L	probably benign	Het
Selenop	A	G	15: 3,304,216 (GRCm39)	S21G	probably damaging	Het
Shank1	G	A	7: 44,001,677 (GRCm39)	S1132N	unknown	Het
Slf1	A	G	13: 77,232,502 (GRCm39)	L534P	probably damaging	Het
Sparcl1	T	A	5: 104,233,013 (GRCm39)	H596L	probably damaging	Het
Spocd1	C	T	4: 129,850,901 (GRCm39)		probably null	Het
Tbc1d24	A	T	17: 24,404,967 (GRCm39)	I59N	probably damaging	Het
Tjp3	G	A	10: 81,113,110 (GRCm39)	T580I	probably benign	Het
Tmem154	C	T	3: 84,591,603 (GRCm39)	T51M	possibly damaging	Het
Tmem8b	G	A	4: 43,690,246 (GRCm39)	V894I	probably benign	Het
Trbv20	A	T	6: 41,165,840 (GRCm39)	L88F	possibly damaging	Het
Tssk2	A	C	16: 17,716,812 (GRCm39)	I72L	possibly damaging	Het
Tub	T	A	7: 108,626,265 (GRCm39)	I267N	probably damaging	Het
Vmn2r104	A	T	17: 20,261,829 (GRCm39)	F434I	possibly damaging	Het
Vmn2r42	T	C	7: 8,195,733 (GRCm39)	N471S	probably damaging	Het
Vmn2r94	C	G	17: 18,478,385 (GRCm39)	G121R	probably damaging	Het
Wdr72	T	C	9: 74,055,505 (GRCm39)	S245P	probably damaging	Het
Zbtb42	A	G	12: 112,645,969 (GRCm39)	Y48C	probably damaging	Het
Zdbf2	T	C	1: 63,343,592 (GRCm39)	V657A	possibly damaging	Het
Zfp768	A	T	7: 126,943,263 (GRCm39)	C288*	probably null	Het
Zfp988	T	A	4: 147,416,470 (GRCm39)	C301*	probably null	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
R0157:Or2y14	UTSW	11	49,404,600 (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
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'- TTCATAGCACTCTTACTGGGTGG -3'
(R):5'- TTCTGCGCCCAGATCTTGAC -3'

Sequencing Primer
(F):5'- ATAGCACTCTTACTGGGTGGAACTG -3'
(R):5'- GACTTGATCTTCAACACTGCATGAGC -3'

Posted On

2018-02-28