Mutagenetix > Incidental Mutation

Incidental Mutation 'R1725:Or2t1'

198097

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

039757-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R1725 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8140697-8141650 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 14328977 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 289 (Y289D)

Ref Sequence

ENSEMBL: ENSMUSP00000149019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100872] [ENSMUST00000206009] [ENSMUST00000217035]

AlphaFold

E9Q3K2

Predicted Effect

probably damaging
Transcript: ENSMUST00000100872
AA Change: Y289D

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

SMART Domains

Protein: ENSMUSP00000098434
Gene: ENSMUSG00000072707
AA Change: Y289D

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

probably damaging
Transcript: ENSMUST00000206009
AA Change: Y289D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217035
AA Change: Y289D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224991

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	T	16: 88,424,163 (GRCm39)	F109L	probably benign	Het
Aacs	T	C	5: 125,559,999 (GRCm39)		probably null	Het
Abcc6	C	A	7: 45,641,781 (GRCm39)	D866Y	possibly damaging	Het
Acox3	T	C	5: 35,749,516 (GRCm39)	Y214H	probably benign	Het
Acss2	A	G	2: 155,398,764 (GRCm39)	T404A	possibly damaging	Het
Adgrb3	T	A	1: 25,865,381 (GRCm39)	E154V	probably damaging	Het
Akap12	G	A	10: 4,303,942 (GRCm39)	V251M	probably damaging	Het
Ambp	A	T	4: 63,062,513 (GRCm39)	M242K	possibly damaging	Het
Angptl7	T	G	4: 148,584,469 (GRCm39)	Y93S	probably damaging	Het
Apof	A	G	10: 128,105,680 (GRCm39)		probably benign	Het
Arv1	T	C	8: 125,455,191 (GRCm39)	F135L	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Cacna1s	C	T	1: 136,026,361 (GRCm39)	T1116I	probably damaging	Het
Ccdc91	A	G	6: 147,493,541 (GRCm39)	E311G	unknown	Het
Cenpf	T	C	1: 189,412,676 (GRCm39)	T196A	probably damaging	Het
Chd8	A	T	14: 52,470,030 (GRCm39)	S527T	probably benign	Het
Csmd3	A	C	15: 47,460,203 (GRCm39)	N3529K	probably damaging	Het
Csnk2a1	T	C	2: 152,099,892 (GRCm39)	V116A	probably damaging	Het
Dhx36	T	G	3: 62,414,360 (GRCm39)	M1L	probably benign	Het
Diaph3	A	G	14: 87,203,759 (GRCm39)		probably null	Het
Ephb2	G	A	4: 136,387,089 (GRCm39)	Q714*	probably null	Het
Eprs1	T	A	1: 185,139,189 (GRCm39)	L858Q	probably damaging	Het
Espl1	G	T	15: 102,221,656 (GRCm39)	V982L	probably benign	Het
Eya2	A	G	2: 165,566,605 (GRCm39)	T219A	probably benign	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fbxl18	C	T	5: 142,872,458 (GRCm39)	R259H	probably damaging	Het
Gcc2	G	A	10: 58,139,937 (GRCm39)	R1629H	possibly damaging	Het
Gje1	G	A	10: 14,592,168 (GRCm39)	R205*	probably null	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,743,115 (GRCm39)		probably benign	Het
Krt6a	A	T	15: 101,600,992 (GRCm39)	M268K	probably damaging	Het
Loxhd1	T	A	18: 77,380,937 (GRCm39)	S85T	probably benign	Het
Loxl3	G	A	6: 83,012,574 (GRCm39)	V38I	probably benign	Het
Mill2	A	G	7: 18,573,993 (GRCm39)	D26G	probably benign	Het
Muc15	T	C	2: 110,561,591 (GRCm39)	L9S	probably damaging	Het
Nat8f4	G	A	6: 85,878,080 (GRCm39)	R148*	probably null	Het
Nav3	A	T	10: 109,659,451 (GRCm39)	V722E	probably damaging	Het
Nfkb1	C	A	3: 135,373,519 (GRCm39)	G10W	probably damaging	Het
Or10j5	C	T	1: 172,784,908 (GRCm39)	P182L	possibly damaging	Het
Or2ag1	A	T	7: 106,313,265 (GRCm39)	F208I	probably benign	Het
Or5b120	T	C	19: 13,479,883 (GRCm39)	Y59H	probably damaging	Het
Pcdhb22	T	A	18: 37,653,241 (GRCm39)	C313S	probably benign	Het
Plin4	A	G	17: 56,413,473 (GRCm39)	L384P	probably damaging	Het
Pm20d1	T	C	1: 131,743,796 (GRCm39)	I487T	probably damaging	Het
Prex1	A	T	2: 166,443,656 (GRCm39)	D334E	probably damaging	Het
Psg28	A	T	7: 18,161,936 (GRCm39)	I189N	possibly damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Rae1	A	G	2: 172,848,754 (GRCm39)	I123M	possibly damaging	Het
Sh3glb2	C	A	2: 30,240,679 (GRCm39)	E129*	probably null	Het
Simc1	T	C	13: 54,674,219 (GRCm39)	S856P	probably damaging	Het
Slc19a1	T	A	10: 76,877,672 (GRCm39)	M69K	probably benign	Het
Slc30a8	A	T	15: 52,197,000 (GRCm39)	I304F	possibly damaging	Het
Snx1	A	G	9: 66,005,611 (GRCm39)		probably null	Het
Spmip5	T	G	19: 58,781,194 (GRCm39)	K10T	probably benign	Het
Stx18	G	A	5: 38,292,599 (GRCm39)	V234M	probably damaging	Het
Sulf2	T	C	2: 165,923,281 (GRCm39)	T615A	probably damaging	Het
Sult3a2	T	A	10: 33,655,705 (GRCm39)	K91N	probably benign	Het
Tet1	A	G	10: 62,650,256 (GRCm39)	S22P	probably damaging	Het
Tmc3	T	C	7: 83,253,940 (GRCm39)	V362A	probably damaging	Het
Trim16	A	C	11: 62,711,331 (GRCm39)	M1L	possibly damaging	Het
Trp53bp1	C	T	2: 121,082,481 (GRCm39)	V10I	possibly damaging	Het
Ttc12	T	G	9: 49,369,415 (GRCm39)	D235A	probably benign	Het
Ttn	T	C	2: 76,692,727 (GRCm39)	R452G	possibly damaging	Het
Ugt2b38	A	T	5: 87,559,730 (GRCm39)	H387Q	probably damaging	Het
Usp48	T	A	4: 137,360,733 (GRCm39)	L20*	probably null	Het
Utrn	T	C	10: 12,539,263 (GRCm39)	D1918G	probably damaging	Het
Vmn1r158	A	G	7: 22,490,072 (GRCm39)	S46P	probably benign	Het
Vmn2r97	T	A	17: 19,149,397 (GRCm39)	W262R	probably benign	Het
Vps13d	A	T	4: 144,869,830 (GRCm39)	S1917T	possibly damaging	Het
Vsx1	T	C	2: 150,528,120 (GRCm39)	N158D	probably benign	Het
Vwf	G	A	6: 125,623,245 (GRCm39)	V1781I	probably benign	Het
Wrap73	T	C	4: 154,233,209 (GRCm39)	Y128H	possibly damaging	Het
Zfp472	A	G	17: 33,196,311 (GRCm39)	K129E	possibly damaging	Het
Zscan18	A	T	7: 12,504,784 (GRCm39)	L611Q	probably damaging	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
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
R8284:Or2t1	UTSW	14	14,329,011 (GRCm38)	missense	possibly damaging	0.91
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'- CCTTTGTGGGATGCACAGCTCAAC -3'
(R):5'- GTACTTCAGTCCTTCAGCTCAGGC -3'

Sequencing Primer
(F):5'- TGGATTATCATAGCAGGCTCC -3'
(R):5'- CCGAGCTGCACTGACAATTTTC -3'

Posted On

2014-05-23