Mutagenetix > Incidental Mutation

Incidental Mutation 'R7779:Or2y1f'

599100

Institutional Source

Beutler Lab

Gene Symbol

Or2y1f

Ensembl Gene

ENSMUSG00000101750

Gene Name

olfactory receptor family 2 subfamily Y member 1F

Synonyms

GA_x6K02T2QP88-6141322-6140387, MOR256-25, Olfr1392

MMRRC Submission

045835-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R7779 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49184124-49185149 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49185048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 300 (L300Q)

Ref Sequence

ENSEMBL: ENSMUSP00000150516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000189851] [ENSMUST00000214170] [ENSMUST00000214598] [ENSMUST00000215861] [ENSMUST00000217275]

AlphaFold

Q8VFA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000189851
AA Change: L300Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140904
Gene: ENSMUSG00000101750
AA Change: L300Q

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	222	7.1e-8	PFAM
Pfam:7tm_1	41	289	2.4e-32	PFAM
Pfam:7tm_4	139	282	1.8e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214170
AA Change: L300Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214598
AA Change: L300Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215861
AA Change: L300Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217275
AA Change: L300Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (92/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,101,316 (GRCm39)	V563E	probably damaging	Het
Adra1d	A	G	2: 131,403,805 (GRCm39)	V95A	probably damaging	Het
Ak7	A	C	12: 105,708,609 (GRCm39)	I355L	probably benign	Het
Ank1	G	A	8: 23,586,763 (GRCm39)		probably null	Het
Apol7c	A	T	15: 77,409,946 (GRCm39)	H333Q	probably damaging	Het
Arfgef3	T	C	10: 18,470,771 (GRCm39)	M1665V	probably damaging	Het
Arid5b	A	G	10: 67,932,606 (GRCm39)	Y1099H	probably damaging	Het
Atp8b1	A	G	18: 64,674,453 (GRCm39)	S943P	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 55,121,836 (GRCm39)		probably benign	Het
Bco1	A	G	8: 117,844,135 (GRCm39)	Y283C	probably damaging	Het
Brd4	A	T	17: 32,431,910 (GRCm39)	D652E	probably benign	Het
Cacna1s	G	A	1: 136,046,767 (GRCm39)	A1799T	probably damaging	Het
Camsap3	A	G	8: 3,647,887 (GRCm39)	Y65C	probably damaging	Het
Capn1	T	C	19: 6,044,116 (GRCm39)	K535E	probably benign	Het
Cbl	A	G	9: 44,070,393 (GRCm39)	S480P	probably benign	Het
Cfap99	A	C	5: 34,469,008 (GRCm39)	N294T	probably benign	Het
Defa24	A	C	8: 22,225,355 (GRCm39)	S82R	probably benign	Het
Dnai2	T	C	11: 114,645,235 (GRCm39)	F557L	possibly damaging	Het
Dnhd1	T	A	7: 105,327,122 (GRCm39)	H690Q	probably benign	Het
Dock2	A	G	11: 34,605,282 (GRCm39)	V279A	probably benign	Het
Dst	T	A	1: 34,233,678 (GRCm39)	V3462E	probably damaging	Het
E2f3	T	G	13: 30,102,598 (GRCm39)	H221P	probably damaging	Het
Eif2b4	A	T	5: 31,347,998 (GRCm39)	I238N	probably damaging	Het
Eno4	T	C	19: 58,956,975 (GRCm39)	S530P	probably benign	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Etl4	C	T	2: 20,714,288 (GRCm39)	T129I	probably damaging	Het
Extl1	A	G	4: 134,085,014 (GRCm39)	F652S	probably damaging	Het
Extl1	T	C	4: 134,087,908 (GRCm39)	K449E	probably benign	Het
F13b	T	A	1: 139,444,124 (GRCm39)	V486E	probably benign	Het
Fbln2	T	A	6: 91,210,176 (GRCm39)	L40Q	probably damaging	Het
Glp2r	C	T	11: 67,600,609 (GRCm39)	W413*	probably null	Het
Grin2b	A	T	6: 135,755,792 (GRCm39)	Y507*	probably null	Het
H2-M11	G	T	17: 36,859,698 (GRCm39)	L230F	probably benign	Het
Il36a	T	C	2: 24,106,613 (GRCm39)	Y66H	probably damaging	Het
Itpr1	A	G	6: 108,500,309 (GRCm39)	E2634G	possibly damaging	Het
Itpr3	A	T	17: 27,315,037 (GRCm39)	Y728F	probably damaging	Het
Jak1	C	T	4: 101,017,339 (GRCm39)	E764K	probably benign	Het
Jak3	G	T	8: 72,139,932 (GRCm39)	R1045L	probably benign	Het
Jam2	T	C	16: 84,606,271 (GRCm39)	I95T	probably damaging	Het
Kdf1	T	C	4: 133,255,796 (GRCm39)	V171A	probably damaging	Het
Lactbl1	A	T	4: 136,358,307 (GRCm39)	K93*	probably null	Het
Lcn6	T	C	2: 25,570,805 (GRCm39)	V131A	probably benign	Het
Lpar5	T	A	6: 125,059,207 (GRCm39)	D309E	probably damaging	Het
Lrfn4	T	C	19: 4,663,715 (GRCm39)	E273G	probably damaging	Het
Lta4h	C	T	10: 93,310,811 (GRCm39)	T447I	probably benign	Het
Lyst	A	G	13: 13,809,128 (GRCm39)	E266G	probably damaging	Het
Mab21l1	A	T	3: 55,690,796 (GRCm39)	I128F	possibly damaging	Het
Mrgprb4	T	G	7: 47,848,895 (GRCm39)	N11T	probably benign	Het
Mroh6	G	A	15: 75,760,505 (GRCm39)	T23I	possibly damaging	Het
Myo1f	T	C	17: 33,797,247 (GRCm39)	I143T	probably benign	Het
Myof	C	T	19: 37,927,838 (GRCm39)	D1092N	probably damaging	Het
Ncan	G	T	8: 70,567,661 (GRCm39)	D150E	probably damaging	Het
Or1d2	T	A	11: 74,255,771 (GRCm39)	I92N	probably damaging	Het
Or6c88	A	T	10: 129,407,180 (GRCm39)	I219F	probably damaging	Het
Pcm1	A	G	8: 41,782,061 (GRCm39)	Y1948C	probably damaging	Het
Pcsk6	A	T	7: 65,675,152 (GRCm39)	T669S	probably benign	Het
Pdlim5	A	C	3: 141,948,447 (GRCm39)	N613K	probably benign	Het
Pdzk1	T	A	3: 96,764,589 (GRCm39)	V291D	probably damaging	Het
Plbd2	T	C	5: 120,625,743 (GRCm39)	Q408R	probably damaging	Het
Ppp1r37	C	A	7: 19,266,712 (GRCm39)	A392S	possibly damaging	Het
Proser2	T	A	2: 6,107,878 (GRCm39)		probably null	Het
Psmd12	T	C	11: 107,388,405 (GRCm39)	V406A	probably benign	Het
Rab3gap2	T	C	1: 184,991,641 (GRCm39)	V709A	probably damaging	Het
Radil	T	C	5: 142,473,320 (GRCm39)	E787G	probably benign	Het
Rai14	A	C	15: 10,593,112 (GRCm39)	D177E	probably damaging	Het
Rbms2	G	A	10: 127,979,315 (GRCm39)	T166I	probably damaging	Het
Rrh	C	T	3: 129,608,969 (GRCm39)	C115Y	probably benign	Het
Slc1a6	C	T	10: 78,631,789 (GRCm39)	T205I	probably damaging	Het
Sost	T	C	11: 101,857,675 (GRCm39)	E42G	possibly damaging	Het
Spcs3	T	A	8: 54,982,805 (GRCm39)	I46F	possibly damaging	Het
Spg11	A	G	2: 121,901,420 (GRCm39)	S1507P	probably damaging	Het
Sprtn	C	T	8: 125,624,982 (GRCm39)	P29L	possibly damaging	Het
Sptan1	C	T	2: 29,911,319 (GRCm39)	T1886I	probably damaging	Het
Strn4	T	C	7: 16,565,417 (GRCm39)	F394S	probably damaging	Het
Syt14	A	T	1: 192,666,751 (GRCm39)	M51K	unknown	Het
Terb2	A	G	2: 122,016,975 (GRCm39)	K32R	probably benign	Het
Tex15	G	A	8: 34,065,309 (GRCm39)	G1580R	probably damaging	Het
Thumpd3	T	C	6: 113,036,950 (GRCm39)	V283A	probably damaging	Het
Tm7sf2	T	C	19: 6,112,947 (GRCm39)	Y418C	possibly damaging	Het
Trim24	T	G	6: 37,896,332 (GRCm39)	F263C	probably damaging	Het
Trim24	T	A	6: 37,896,333 (GRCm39)	F263L	probably damaging	Het
Trip11	A	G	12: 101,849,796 (GRCm39)	S1423P	probably damaging	Het
Vps13c	G	A	9: 67,788,704 (GRCm39)	V326M	probably damaging	Het
Vps37c	T	C	19: 10,689,988 (GRCm39)	V150A	probably damaging	Het
Wdr90	C	T	17: 26,065,300 (GRCm39)	R1652Q	probably damaging	Het
Wfdc9	A	G	2: 164,492,516 (GRCm39)	V37A	probably damaging	Het
Yif1b	T	A	7: 28,945,328 (GRCm39)	M227K	probably damaging	Het
Zbtb18	T	C	1: 177,274,505 (GRCm39)		probably benign	Het
Zfp318	A	G	17: 46,710,820 (GRCm39)	T848A	probably benign	Het
Zfp808	T	A	13: 62,320,571 (GRCm39)	I600K	possibly damaging	Het
Zmym1	C	A	4: 126,948,038 (GRCm39)	S111I	probably benign	Het
Zmym2	A	G	14: 57,165,740 (GRCm39)	T688A	probably damaging	Het

Other mutations in Or2y1f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Or2y1f	APN	11	49,184,457 (GRCm39)	missense	possibly damaging	0.55
IGL02530:Or2y1f	APN	11	49,184,555 (GRCm39)	missense	possibly damaging	0.78
IGL03026:Or2y1f	APN	11	49,184,285 (GRCm39)	missense	probably damaging	0.99
IGL03106:Or2y1f	APN	11	49,184,988 (GRCm39)	missense	probably damaging	0.99
R0357:Or2y1f	UTSW	11	49,184,613 (GRCm39)	missense	probably damaging	0.96
R0396:Or2y1f	UTSW	11	49,184,165 (GRCm39)	missense	probably benign	0.00
R2281:Or2y1f	UTSW	11	49,184,459 (GRCm39)	missense	probably benign	0.04
R4319:Or2y1f	UTSW	11	49,184,503 (GRCm39)	missense	probably damaging	1.00
R4320:Or2y1f	UTSW	11	49,184,503 (GRCm39)	missense	probably damaging	1.00
R4322:Or2y1f	UTSW	11	49,184,503 (GRCm39)	missense	probably damaging	1.00
R4323:Or2y1f	UTSW	11	49,184,503 (GRCm39)	missense	probably damaging	1.00
R5327:Or2y1f	UTSW	11	49,184,493 (GRCm39)	missense	probably damaging	1.00
R6749:Or2y1f	UTSW	11	49,184,877 (GRCm39)	missense	probably damaging	1.00
R8122:Or2y1f	UTSW	11	49,184,401 (GRCm39)	missense	probably damaging	0.99
R8356:Or2y1f	UTSW	11	49,184,385 (GRCm39)	missense	probably damaging	1.00
R8456:Or2y1f	UTSW	11	49,184,385 (GRCm39)	missense	probably damaging	1.00
R8737:Or2y1f	UTSW	11	49,184,965 (GRCm39)	missense	probably damaging	1.00
R8746:Or2y1f	UTSW	11	49,183,993 (GRCm39)	intron	probably benign
R9375:Or2y1f	UTSW	11	49,184,902 (GRCm39)	nonsense	probably null
X0012:Or2y1f	UTSW	11	49,184,760 (GRCm39)	missense	probably benign	0.36
X0025:Or2y1f	UTSW	11	49,184,780 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAAGGCTGCTGGGACTTGTG -3'
(R):5'- TGGCCACAAGTGCCTTAATCC -3'

Sequencing Primer
(F):5'- TGGGACTTGTGGCTCCC -3'
(R):5'- ACAAGTGCCTTAATCCTCTGAG -3'

Posted On

2019-11-26