Mutagenetix > Incidental Mutation

Incidental Mutation 'R5512:Or2t6'

440131

Institutional Source

Beutler Lab

Gene Symbol

Or2t6

Ensembl Gene

ENSMUSG00000052417

Gene Name

olfactory receptor family 2 subfamily T member 6

Synonyms

Olfr720, MOR274-2, GA_x6K02T2PLTE-6544896-6543946

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.336) question?

Stock #

R5512 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8293683-8294633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 14175633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 150 (G150C)

Ref Sequence

ENSEMBL: ENSMUSP00000149641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035250] [ENSMUST00000206298] [ENSMUST00000216079] [ENSMUST00000217642]

AlphaFold

Q8VF37

Predicted Effect

probably damaging
Transcript: ENSMUST00000035250
AA Change: G150C

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

SMART Domains

Protein: ENSMUSP00000046509
Gene: ENSMUSG00000052417
AA Change: G150C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	8.4e-49	PFAM
Pfam:7tm_1	40	289	8.9e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000206298
AA Change: G150C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216079
AA Change: G150C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217642
AA Change: G150C

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 130,952,389 (GRCm39)	V364A	possibly damaging	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Adgre5	T	C	8: 84,455,715 (GRCm39)	N198D	probably benign	Het
Adgrf4	G	T	17: 42,978,176 (GRCm39)	T389K	probably benign	Het
Apc	T	A	18: 34,443,962 (GRCm39)		probably benign	Het
Appl2	T	A	10: 83,441,682 (GRCm39)	I524F	probably damaging	Het
Arhgef37	G	A	18: 61,632,845 (GRCm39)	Q531*	probably null	Het
Atp7b	T	C	8: 22,502,755 (GRCm39)	T694A	probably benign	Het
Cacna1g	T	A	11: 94,334,968 (GRCm39)	I780F	probably damaging	Het
Calcoco2	T	C	11: 95,994,162 (GRCm39)	K95E	probably damaging	Het
Cars1	T	C	7: 143,123,870 (GRCm39)	D388G	possibly damaging	Het
Ccdc150	A	C	1: 54,393,806 (GRCm39)	E690A	probably damaging	Het
Cdc73	G	T	1: 143,578,354 (GRCm39)	D3E	probably damaging	Het
Cdh23	C	A	10: 60,370,165 (GRCm39)		probably null	Het
Cep170b	T	C	12: 112,699,919 (GRCm39)	S143P	possibly damaging	Het
Cherp	T	C	8: 73,217,110 (GRCm39)	I607V	possibly damaging	Het
CN725425	T	A	15: 91,124,959 (GRCm39)	H166Q	probably benign	Het
Dcaf6	A	G	1: 165,227,404 (GRCm39)	V241A	possibly damaging	Het
Dot1l	C	T	10: 80,624,825 (GRCm39)	P881S	possibly damaging	Het
Drgx	A	G	14: 32,322,001 (GRCm39)	H5R	probably damaging	Het
Dsg1c	A	T	18: 20,405,568 (GRCm39)	N327I	probably damaging	Het
Fbxw7	G	A	3: 84,862,216 (GRCm39)	R182H	probably damaging	Het
Fkbp1b	A	T	12: 4,888,183 (GRCm39)	V24E	probably benign	Het
Fut11	T	C	14: 20,746,069 (GRCm39)	S304P	probably damaging	Het
Ggt1	C	T	10: 75,420,718 (GRCm39)	T361I	probably damaging	Het
Gimap7	G	T	6: 48,700,530 (GRCm39)	A39S	probably benign	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Gm17541	G	T	12: 4,739,452 (GRCm39)		probably benign	Het
Gmip	T	A	8: 70,270,540 (GRCm39)	V750E	probably benign	Het
Gna14	A	G	19: 16,585,492 (GRCm39)	E290G	probably benign	Het
Gpnmb	T	C	6: 49,022,398 (GRCm39)	V176A	possibly damaging	Het
Hhla1	T	C	15: 65,795,865 (GRCm39)	K447R	probably benign	Het
Hsd3b1	A	G	3: 98,760,521 (GRCm39)	Y157H	probably benign	Het
Iqgap2	G	A	13: 95,811,884 (GRCm39)	Q706*	probably null	Het
Krt222	A	C	11: 99,125,781 (GRCm39)	S283R	probably damaging	Het
Ldb2	G	A	5: 44,637,586 (GRCm39)	R241W	probably damaging	Het
Lrrc8d	G	A	5: 105,960,651 (GRCm39)	E354K	probably benign	Het
Lrrc8d	C	G	5: 105,960,650 (GRCm39)	F353L	probably damaging	Het
Masp2	A	T	4: 148,698,526 (GRCm39)	I536F	probably damaging	Het
Mptx1	A	G	1: 174,160,315 (GRCm39)	D207G	probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Napsa	A	G	7: 44,222,040 (GRCm39)	M1V	probably null	Het
Ncam1	A	T	9: 49,420,999 (GRCm39)		probably null	Het
Nckap5	G	A	1: 125,955,481 (GRCm39)	P425L	possibly damaging	Het
Nol8	A	G	13: 49,830,263 (GRCm39)	S1116G	probably benign	Het
Nrde2	G	T	12: 100,108,509 (GRCm39)	Q361K	probably benign	Het
Nudt13	G	A	14: 20,357,800 (GRCm39)	G133D	probably damaging	Het
Ofcc1	G	T	13: 40,360,286 (GRCm39)	Q248K	probably benign	Het
Olfm4	A	G	14: 80,258,787 (GRCm39)	D345G	probably benign	Het
Or4k41	G	A	2: 111,280,099 (GRCm39)	V205I	probably benign	Het
Osbpl3	T	G	6: 50,286,340 (GRCm39)	K659N	probably damaging	Het
Pdk2	G	A	11: 94,930,292 (GRCm39)	T48M	probably damaging	Het
Phf11a	A	T	14: 59,524,999 (GRCm39)	D68E	probably benign	Het
Purb	A	G	11: 6,425,702 (GRCm39)	V62A	probably damaging	Het
Rabep2	A	G	7: 126,037,971 (GRCm39)	T248A	possibly damaging	Het
Rps19bp1	CCTTCTTCTTCTTCTTCTTCTT	CCTTCTTCTTCTTCTTCTT	15: 80,145,250 (GRCm39)		probably benign	Het
Rtl1	C	T	12: 109,557,805 (GRCm39)	E1345K	unknown	Het
Sema3e	G	A	5: 14,280,194 (GRCm39)	A358T	probably damaging	Het
Slc29a2	A	G	19: 5,076,426 (GRCm39)	I105V	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc6a5	G	A	7: 49,591,573 (GRCm39)	V513I	probably damaging	Het
Slco4a1	T	A	2: 180,115,907 (GRCm39)	F681Y	possibly damaging	Het
Sp1	A	G	15: 102,339,445 (GRCm39)	N775S	possibly damaging	Het
Sspo	T	A	6: 48,432,605 (GRCm39)	V827D	probably damaging	Het
Taar7f	C	T	10: 23,926,321 (GRCm39)	T305M	possibly damaging	Het
Tars2	A	T	3: 95,657,728 (GRCm39)	C238S	probably damaging	Het
Tasor2	A	T	13: 3,645,517 (GRCm39)	Y111N	probably damaging	Het
Tnks1bp1	C	A	2: 84,893,178 (GRCm39)	P373Q	probably benign	Het
Tnpo3	A	G	6: 29,575,045 (GRCm39)	L373P	probably damaging	Het
Unc45b	A	C	11: 82,805,898 (GRCm39)	D135A	possibly damaging	Het
Vmn1r235	A	T	17: 21,481,677 (GRCm39)	M1L	probably benign	Het
Vmn2r66	T	C	7: 84,657,149 (GRCm39)	I85M	probably damaging	Het
Vmn2r80	T	G	10: 79,004,066 (GRCm39)	L93W	probably benign	Het
Vwf	G	T	6: 125,650,850 (GRCm39)		probably benign	Het
Ythdf3	A	G	3: 16,238,086 (GRCm39)	R9G	probably damaging	Het
Zfp229	A	G	17: 21,964,017 (GRCm39)		probably null	Het
Zfp958	A	C	8: 4,675,838 (GRCm39)		probably null	Het

Other mutations in Or2t6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02658:Or2t6	APN	14	14,175,732 (GRCm38)	missense	possibly damaging	0.92
IGL02704:Or2t6	APN	14	14,175,483 (GRCm38)	missense	probably benign	0.00
IGL03308:Or2t6	APN	14	14,175,161 (GRCm38)	missense	probably benign
IGL03331:Or2t6	APN	14	14,176,017 (GRCm38)	missense	probably benign	0.16
R0008:Or2t6	UTSW	14	14,176,092 (GRCm38)	start gained	probably benign
R0131:Or2t6	UTSW	14	14,175,620 (GRCm38)	missense	probably benign	0.03
R0647:Or2t6	UTSW	14	14,175,858 (GRCm38)	missense	probably benign	0.35
R0747:Or2t6	UTSW	14	14,175,429 (GRCm38)	missense	probably benign	0.01
R1210:Or2t6	UTSW	14	14,176,029 (GRCm38)	missense	probably benign	0.00
R1225:Or2t6	UTSW	14	14,175,600 (GRCm38)	missense	possibly damaging	0.89
R1525:Or2t6	UTSW	14	14,175,725 (GRCm38)	missense	probably damaging	1.00
R1975:Or2t6	UTSW	14	14,175,446 (GRCm38)	missense	probably damaging	1.00
R1994:Or2t6	UTSW	14	14,175,854 (GRCm38)	missense	probably benign	0.16
R2310:Or2t6	UTSW	14	14,175,836 (GRCm38)	missense	probably benign	0.03
R3151:Or2t6	UTSW	14	14,175,203 (GRCm38)	missense	probably damaging	1.00
R4547:Or2t6	UTSW	14	14,175,854 (GRCm38)	missense	probably damaging	0.99
R4824:Or2t6	UTSW	14	14,175,885 (GRCm38)	missense	probably damaging	1.00
R5063:Or2t6	UTSW	14	14,175,593 (GRCm38)	missense	probably damaging	1.00
R5098:Or2t6	UTSW	14	14,175,683 (GRCm38)	missense	probably benign	0.03
R5430:Or2t6	UTSW	14	14,175,692 (GRCm38)	missense	probably benign	0.03
R5748:Or2t6	UTSW	14	14,175,314 (GRCm38)	missense	probably damaging	1.00
R7200:Or2t6	UTSW	14	14,175,477 (GRCm38)	missense	probably damaging	1.00
R7407:Or2t6	UTSW	14	14,175,402 (GRCm38)	missense	probably benign
R7666:Or2t6	UTSW	14	14,176,075 (GRCm38)	missense	probably benign
R7760:Or2t6	UTSW	14	14,175,905 (GRCm38)	missense	probably damaging	1.00
R8118:Or2t6	UTSW	14	14,175,863 (GRCm38)	missense	probably damaging	1.00
R8413:Or2t6	UTSW	14	14,175,416 (GRCm38)	missense	probably benign	0.00
R8873:Or2t6	UTSW	14	14,175,344 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGGCATAAGATGTGATCACC -3'
(R):5'- TGTAGGCAAAGGGATCATCTC -3'

Sequencing Primer
(F):5'- TGATCACCACAGAGAAGGGGAC -3'
(R):5'- AAGGGATCATCTCTTTTGCTGC -3'

Posted On

2016-11-08