Mutagenetix > Incidental Mutation

Incidental Mutation 'R8284:Or2t1'

638396

Institutional Source

Beutler Lab

Gene Symbol

Or2t1

Ensembl Gene

ENSMUSG00000072707

Gene Name

olfactory receptor family 2 subfamily T member 1

Synonyms

MTPCR53, GA_x6K02T2PLTE-6714644-6715597, Olfr31, MOR274-1

MMRRC Submission

067707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R8284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8140697-8141650 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14329011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 300 (L300Q)

Ref Sequence

ENSEMBL: ENSMUSP00000146305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100872] [ENSMUST00000206009]

AlphaFold

E9Q3K2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100872
AA Change: L300Q

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098434
Gene: ENSMUSG00000072707
AA Change: L300Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	5.7e-50	PFAM
Pfam:7tm_1	40	289	3.1e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206009
AA Change: L300Q

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (54/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	T	C	10: 61,034,438 (GRCm39)	Y1147C	possibly damaging	Het
Adgrf5	T	A	17: 43,766,161 (GRCm39)	S1328T	unknown	Het
Aff4	A	G	11: 53,295,379 (GRCm39)	K860E	probably damaging	Het
Aox1	A	C	1: 58,115,250 (GRCm39)	H745P	probably damaging	Het
Bpifc	T	C	10: 85,836,413 (GRCm39)	T31A	probably benign	Het
C3	C	A	17: 57,530,938 (GRCm39)	V388L	probably benign	Het
Celsr3	G	T	9: 108,723,612 (GRCm39)	M2874I	probably damaging	Het
Cnga4	T	A	7: 105,057,239 (GRCm39)	D550E	probably benign	Het
Dhx8	A	G	11: 101,648,455 (GRCm39)	T918A	probably damaging	Het
Dnah14	A	C	1: 181,601,376 (GRCm39)	E3670A	probably benign	Het
Fbxo31	T	C	8: 122,287,181 (GRCm39)	I131V	probably benign	Het
Ftcd	T	C	10: 76,413,893 (GRCm39)	V99A	probably benign	Het
Gucy2e	A	G	11: 69,123,177 (GRCm39)	V471A	probably benign	Het
H60b	T	A	10: 22,162,971 (GRCm39)	L182Q	probably benign	Het
Hbp1	G	A	12: 31,987,625 (GRCm39)	H188Y	probably damaging	Het
Itga4	C	T	2: 79,151,783 (GRCm39)	T862I	probably benign	Het
Kcnmb4	T	A	10: 116,254,158 (GRCm39)	K206N	probably damaging	Het
Klra4	A	G	6: 130,042,243 (GRCm39)	F8S	possibly damaging	Het
Mrpl2	C	A	17: 46,958,435 (GRCm39)	Y72*	probably null	Het
Nars2	C	A	7: 96,600,845 (GRCm39)		probably benign	Het
Nup214	T	C	2: 31,886,458 (GRCm39)	S607P	possibly damaging	Het
Oas1d	C	T	5: 121,057,221 (GRCm39)	R276*	probably null	Het
Or12d13	C	T	17: 37,647,587 (GRCm39)	V179I	probably benign	Het
Or1l8	T	A	2: 36,818,018 (GRCm39)	Y36F	probably damaging	Het
Or2y1b	A	G	11: 49,209,002 (GRCm39)	T210A	probably benign	Het
Pex13	A	G	11: 23,605,685 (GRCm39)	S182P	possibly damaging	Het
Piwil4	G	T	9: 14,638,774 (GRCm39)	N297K	probably benign	Het
Plxna4	T	C	6: 32,129,789 (GRCm39)	T1845A	probably benign	Het
Pml	T	C	9: 58,136,643 (GRCm39)	N579D	probably benign	Het
Ppl	A	G	16: 4,950,201 (GRCm39)	S3P	probably damaging	Het
Pramel16	G	T	4: 143,676,695 (GRCm39)	D136E	possibly damaging	Het
Prss54	G	A	8: 96,285,994 (GRCm39)	Q360*	probably null	Het
Ralgps2	A	G	1: 156,655,718 (GRCm39)	I402T	probably benign	Het
Rnf213	T	A	11: 119,318,909 (GRCm39)	D1123E		Het
Sdha	A	T	13: 74,479,416 (GRCm39)		probably null	Het
Senp8	G	A	9: 59,644,814 (GRCm39)	T114I		Het
Setx	C	T	2: 29,035,348 (GRCm39)	T611I	possibly damaging	Het
Shc1	T	G	3: 89,329,215 (GRCm39)	S20A	possibly damaging	Het
Slc15a1	T	C	14: 121,727,275 (GRCm39)	I98V	probably benign	Het
Snrk	A	G	9: 121,989,538 (GRCm39)	E294G	probably damaging	Het
Sox18	G	A	2: 181,312,751 (GRCm39)	P127S	probably damaging	Het
Spta1	A	G	1: 174,007,387 (GRCm39)	T206A	probably benign	Het
Tcfl5	A	G	2: 180,280,330 (GRCm39)	S358P	probably benign	Het
Tecta	T	A	9: 42,289,325 (GRCm39)	L413F	possibly damaging	Het
Tlk1	T	C	2: 70,544,365 (GRCm39)	T757A	probably benign	Het
Tmem232	T	A	17: 65,709,990 (GRCm39)	I433F	probably damaging	Het
Top1mt	T	A	15: 75,539,712 (GRCm39)	K300*	probably null	Het
Trbv20	C	T	6: 41,165,782 (GRCm39)	A69V	probably damaging	Het
Trim12a	A	T	7: 103,955,282 (GRCm39)	L147Q	probably damaging	Het
Tuba8	G	A	6: 121,199,736 (GRCm39)	S140N	probably damaging	Het
Vcan	A	T	13: 89,852,454 (GRCm39)	N835K	possibly damaging	Het
Xrcc1	G	A	7: 24,271,703 (GRCm39)	R562H	probably damaging	Het
Yipf7	C	T	5: 69,674,539 (GRCm39)	G202D	probably benign	Het
Ythdc1	T	G	5: 86,964,325 (GRCm39)	S45A	probably benign	Het
Zfp1002	T	C	2: 150,097,276 (GRCm39)		probably benign	Het

Other mutations in Or2t1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02550:Or2t1	APN	14	14,328,423 (GRCm38)	missense	possibly damaging	0.91
IGL02566:Or2t1	APN	14	14,328,138 (GRCm38)	missense	probably benign	0.05
IGL02902:Or2t1	APN	14	14,328,789 (GRCm38)	missense	probably benign
IGL03106:Or2t1	APN	14	14,328,851 (GRCm38)	missense	probably damaging	0.97
IGL03214:Or2t1	APN	14	14,328,284 (GRCm38)	missense	probably damaging	0.98
R0333:Or2t1	UTSW	14	14,328,498 (GRCm38)	missense	probably damaging	1.00
R0828:Or2t1	UTSW	14	14,328,800 (GRCm38)	missense	probably benign	0.00
R1231:Or2t1	UTSW	14	14,328,515 (GRCm38)	missense	probably benign	0.00
R1725:Or2t1	UTSW	14	14,328,977 (GRCm38)	missense	probably damaging	1.00
R1823:Or2t1	UTSW	14	14,328,774 (GRCm38)	missense	probably damaging	1.00
R1824:Or2t1	UTSW	14	14,328,774 (GRCm38)	missense	probably damaging	1.00
R2026:Or2t1	UTSW	14	14,328,891 (GRCm38)	missense	probably benign	0.10
R3891:Or2t1	UTSW	14	14,328,114 (GRCm38)	start codon destroyed	probably null	0.99
R4327:Or2t1	UTSW	14	14,328,193 (GRCm38)	missense	probably damaging	1.00
R4328:Or2t1	UTSW	14	14,328,193 (GRCm38)	missense	probably damaging	1.00
R4608:Or2t1	UTSW	14	14,328,887 (GRCm38)	missense	probably benign	0.06
R4893:Or2t1	UTSW	14	14,328,852 (GRCm38)	missense	probably damaging	1.00
R5197:Or2t1	UTSW	14	14,328,462 (GRCm38)	missense	probably damaging	1.00
R5402:Or2t1	UTSW	14	14,328,878 (GRCm38)	missense	probably damaging	1.00
R5787:Or2t1	UTSW	14	14,328,725 (GRCm38)	missense	probably damaging	0.98
R5897:Or2t1	UTSW	14	14,328,120 (GRCm38)	missense	probably benign	0.00
R7340:Or2t1	UTSW	14	14,328,401 (GRCm38)	missense	possibly damaging	0.90
R7709:Or2t1	UTSW	14	14,328,384 (GRCm38)	missense	probably damaging	1.00
R9166:Or2t1	UTSW	14	14,329,059 (GRCm38)	missense	probably benign	0.14
R9427:Or2t1	UTSW	14	14,328,456 (GRCm38)	missense	probably damaging	1.00
R9481:Or2t1	UTSW	14	14,328,756 (GRCm38)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- CGGATTCTGGCCACTGTCTA -3'
(R):5'- GGCGATGGAGAAGTCACATT -3'

Sequencing Primer
(F):5'- CTACCATATGAGCTCTGTGGAAG -3'
(R):5'- GGAGAAGTCACATTTTTACACTGCGG -3'

Posted On

2020-07-28