Mutagenetix > Incidental Mutation

Incidental Mutation 'R7200:Or2t6'

560253

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

MMRRC Submission

045278-MU

Accession Numbers

Essential gene?

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

Stock #

R7200 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8293683-8294633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14175477 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 202 (C202S)

Ref Sequence

ENSEMBL: ENSMUSP00000146132 (fasta)

Gene Model

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

AlphaFold

Q8VF37

Predicted Effect

probably damaging
Transcript: ENSMUST00000035250
AA Change: C202S

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

SMART Domains

Protein: ENSMUSP00000046509
Gene: ENSMUSG00000052417
AA Change: C202S

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: C202S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216079
AA Change: C202S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217642
AA Change: C202S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	G	11: 65,043,836 (GRCm39)	M75T	unknown	Het
2700049A03Rik	T	G	12: 71,187,680 (GRCm39)	N105K	probably damaging	Het
Acvr1c	A	T	2: 58,205,867 (GRCm39)	V31E	probably damaging	Het
Adra1d	T	A	2: 131,403,170 (GRCm39)	T307S	probably benign	Het
Akr1c14	T	C	13: 4,131,051 (GRCm39)	Y248H	probably benign	Het
Ankub1	T	C	3: 57,580,406 (GRCm39)	T84A	probably benign	Het
Asb3	C	A	11: 30,948,348 (GRCm39)	S8*	probably null	Het
AU041133	G	A	10: 81,986,935 (GRCm39)	G196D	possibly damaging	Het
B4galt7	T	C	13: 55,756,155 (GRCm39)	C214R	probably damaging	Het
Chd3	A	G	11: 69,254,921 (GRCm39)	S140P	possibly damaging	Het
Ciz1	T	C	2: 32,254,299 (GRCm39)	L80P	probably damaging	Het
Col6a4	G	A	9: 105,949,448 (GRCm39)	P729L	possibly damaging	Het
Cr2	A	G	1: 194,845,557 (GRCm39)	C133R	probably damaging	Het
Dmgdh	T	C	13: 93,828,393 (GRCm39)	L178P	probably damaging	Het
Dock5	C	A	14: 68,009,151 (GRCm39)	E1448*	probably null	Het
Elavl1	A	G	8: 4,361,767 (GRCm39)	S2P	probably benign	Het
Flywch1	T	C	17: 23,980,033 (GRCm39)	H247R	possibly damaging	Het
Gabpb1	A	T	2: 126,481,222 (GRCm39)	I309N	possibly damaging	Het
Glrx3	T	C	7: 137,066,165 (GRCm39)	F298L	possibly damaging	Het
Gpc6	G	A	14: 118,202,268 (GRCm39)	V493I	probably benign	Het
H2-T13	A	T	17: 36,391,938 (GRCm39)	I45N	possibly damaging	Het
Hadha	C	T	5: 30,350,315 (GRCm39)	E78K	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Ldlrad3	G	T	2: 101,943,903 (GRCm39)	F56L	probably damaging	Het
Ldlrad3	A	G	2: 101,943,905 (GRCm39)	F56L	probably damaging	Het
Mapk4	A	T	18: 74,063,990 (GRCm39)	S411T	possibly damaging	Het
Mcm9	A	G	10: 53,492,019 (GRCm39)	M382T		Het
Muc21	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,933,525 (GRCm39)		probably benign	Het
Or5b104	T	C	19: 13,072,596 (GRCm39)	T139A	probably benign	Het
Pacs1	A	C	19: 5,206,441 (GRCm39)	I248S	possibly damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Plekhg1	T	C	10: 3,906,810 (GRCm39)	S631P		Het
Rars2	A	T	4: 34,645,747 (GRCm39)	K221N	probably benign	Het
Retsat	T	C	6: 72,583,002 (GRCm39)	S388P	possibly damaging	Het
Rft1	G	A	14: 30,404,814 (GRCm39)		probably null	Het
Rgsl1	A	G	1: 153,660,945 (GRCm39)	V345A	probably benign	Het
Rnf38	A	T	4: 44,137,620 (GRCm39)	S320R	probably benign	Het
Sel1l3	T	A	5: 53,301,451 (GRCm39)	Y722F	probably benign	Het
Slc13a4	T	C	6: 35,264,285 (GRCm39)	E194G	possibly damaging	Het
Spata17	G	A	1: 186,844,700 (GRCm39)	R300C	probably benign	Het
Tacc1	G	A	8: 25,731,656 (GRCm39)		probably benign	Het
Tc2n	T	G	12: 101,655,314 (GRCm39)	I214L	probably damaging	Het
Tet2	T	C	3: 133,192,953 (GRCm39)	S494G	probably benign	Het
Tmco5b	A	T	2: 113,121,722 (GRCm39)	I179L	probably damaging	Het
Triobp	AGGGACAATCCCAGGGCCTCCTCTCCCAACAGAACTACTCAGCGGGACAA	AGGGACAA	15: 78,851,042 (GRCm39)		probably benign	Het
Trpv1	A	G	11: 73,130,412 (GRCm39)	T173A	probably damaging	Het
Vmn2r56	C	T	7: 12,444,259 (GRCm39)	G458R	probably damaging	Het
Vmn2r81	T	G	10: 79,106,570 (GRCm39)		probably null	Het
Wfdc15b	T	A	2: 164,057,037 (GRCm39)	E80D	probably benign	Het
Wrn	A	T	8: 33,812,376 (GRCm39)	D423E	probably benign	Het
Zfp775	T	A	6: 48,597,415 (GRCm39)	C430S	possibly damaging	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
R5512:Or2t6	UTSW	14	14,175,633 (GRCm38)	missense	probably damaging	1.00
R5748:Or2t6	UTSW	14	14,175,314 (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'- TATAGGTGTACAAAGCAGCCC -3'
(R):5'- TGGCCATCTGTAATCCGCTC -3'

Sequencing Primer
(F):5'- GGTGTACAAAGCAGCCCCATAAAAC -3'
(R):5'- ATCCTGTCCTCATGAGTCGGAG -3'

Posted On

2019-06-26