Mutagenetix > Incidental Mutation

Incidental Mutation 'R8456:Or2y1f'

655033

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

067833-MU

Accession Numbers

Essential gene?

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

Stock #

R8456 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49184124-49185149 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49184385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 79 (P79L)

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: P79L

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

SMART Domains

Protein: ENSMUSP00000140904
Gene: ENSMUSG00000101750
AA Change: P79L

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: P79L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214598
AA Change: P79L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215861
AA Change: P79L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217275
AA Change: P79L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,842,360 (GRCm39)	E1098G	probably benign	Het
Akap1	T	A	11: 88,725,557 (GRCm39)		probably null	Het
Arhgap26	T	C	18: 39,244,901 (GRCm39)	V182A	possibly damaging	Het
Arhgef19	A	G	4: 140,977,926 (GRCm39)	K545R	probably benign	Het
Asph	C	T	4: 9,537,722 (GRCm39)	R352Q	probably benign	Het
B3glct	T	A	5: 149,650,254 (GRCm39)	I119N	probably damaging	Het
Bltp3b	A	G	10: 89,647,954 (GRCm39)	T1339A	probably benign	Het
Camsap3	C	T	8: 3,650,679 (GRCm39)	R236*	probably null	Het
Ccser2	A	T	14: 36,612,331 (GRCm39)	M792K	probably benign	Het
Ceacam5	C	T	7: 17,479,624 (GRCm39)	T247I	possibly damaging	Het
Dnah9	A	G	11: 66,047,764 (GRCm39)	S19P	probably damaging	Het
Dtwd1	A	G	2: 126,000,451 (GRCm39)	E129G	probably damaging	Het
Ebf3	T	A	7: 136,800,916 (GRCm39)	M490L	probably benign	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Erbb4	A	G	1: 68,110,789 (GRCm39)	L1008S	probably damaging	Het
Ereg	C	T	5: 91,237,993 (GRCm39)	P160S	possibly damaging	Het
Exoc6b	ATTT	ATTTT	6: 84,821,077 (GRCm39)		probably null	Het
Fmn1	A	G	2: 113,195,385 (GRCm39)	T362A	unknown	Het
Gm14326	A	T	2: 177,590,312 (GRCm39)	D16E	probably benign	Het
H1f8	A	T	6: 115,925,745 (GRCm39)	M181L	probably benign	Het
H3c1	A	T	13: 23,946,083 (GRCm39)	F85Y	probably damaging	Het
Herc6	A	T	6: 57,575,548 (GRCm39)	T190S	probably benign	Het
Lama1	T	G	17: 68,044,491 (GRCm39)	I130S		Het
Letm2	T	C	8: 26,071,729 (GRCm39)	D391G	probably damaging	Het
Map3k9	T	C	12: 81,780,892 (GRCm39)	I423V	probably damaging	Het
Melk	T	A	4: 44,312,191 (GRCm39)	C168S	possibly damaging	Het
Naa16	A	T	14: 79,596,915 (GRCm39)	N356K	probably benign	Het
Nup214	A	G	2: 31,929,372 (GRCm39)	N1873S	probably benign	Het
Or8b41	T	A	9: 38,054,981 (GRCm39)	C178*	probably null	Het
Pom121	A	G	5: 135,410,032 (GRCm39)	F1042L	unknown	Het
Pramel51	T	A	12: 88,143,986 (GRCm39)	T284S	probably benign	Het
Pxdn	T	C	12: 30,061,889 (GRCm39)	S1334P	probably damaging	Het
Ranbp1	C	T	16: 18,063,170 (GRCm39)	E69K	probably damaging	Het
Rasl11a	T	C	5: 146,782,045 (GRCm39)	S7P	probably damaging	Het
Rev1	G	A	1: 38,098,324 (GRCm39)	R740*	probably null	Het
Rnf157	C	T	11: 116,240,246 (GRCm39)	V443M	probably benign	Het
Scn3a	T	A	2: 65,291,017 (GRCm39)	T1910S	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	C	CAGCCACGGGGCCTAGCTA	7: 126,066,772 (GRCm39)		probably null	Het
Siah2	T	C	3: 58,583,503 (GRCm39)	N261S	probably benign	Het
Sumf2	T	G	5: 129,889,003 (GRCm39)	W264G	possibly damaging	Het
Tal1	G	T	4: 114,920,625 (GRCm39)	A100S	probably benign	Het
Tmprss9	A	G	10: 80,730,251 (GRCm39)	D717G	possibly damaging	Het
Tox2	G	T	2: 163,046,550 (GRCm39)	R9L	unknown	Het
Traj46	A	G	14: 54,409,795 (GRCm39)	E1G		Het
Unc80	A	G	1: 66,680,788 (GRCm39)	D2128G	possibly damaging	Het
Usp21	A	T	1: 171,112,290 (GRCm39)	F308I	probably damaging	Het
Vgf	A	T	5: 137,061,265 (GRCm39)	I476F	probably damaging	Het
Vps35	G	A	8: 85,987,934 (GRCm39)	T739I	possibly damaging	Het
Wdr95	G	T	5: 149,502,572 (GRCm39)	C279F	probably damaging	Het
Zbtb32	T	C	7: 30,289,381 (GRCm39)	S94G	unknown	Het
Zdhhc13	T	A	7: 48,452,747 (GRCm39)	I153N	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
R7779:Or2y1f	UTSW	11	49,185,048 (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
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'- CATTTTGGTGGGCTTCTCAGAC -3'
(R):5'- GAAGCAATAGCCAATGCCTG -3'

Sequencing Primer
(F):5'- GACTGGCCTGCACTAGAACTC -3'
(R):5'- CCAATGCCTGGCAGAGAACG -3'

Posted On

2020-10-20