Mutagenetix > Incidental Mutation

Incidental Mutation 'R5063:Or2t6'

386762

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

042653-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

R5063 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8293683-8294633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14175593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 163 (M163K)

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: M163K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000046509
Gene: ENSMUSG00000052417
AA Change: M163K

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: M163K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216079
AA Change: M163K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217642
AA Change: M163K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,901,315 (GRCm39)	H970R	probably benign	Het
Anapc1	T	C	2: 128,471,469 (GRCm39)	M1496V	possibly damaging	Het
Arhgef4	A	T	1: 34,763,296 (GRCm39)	T851S	probably benign	Het
Armh3	A	G	19: 45,874,394 (GRCm39)	I593T	possibly damaging	Het
Cacna1d	A	G	14: 29,773,340 (GRCm39)	S1782P	probably benign	Het
Capn13	T	A	17: 73,629,074 (GRCm39)	R578*	probably null	Het
Casp8	A	T	1: 58,883,533 (GRCm39)	H280L	probably damaging	Het
Cd274	G	T	19: 29,361,543 (GRCm39)	D284Y	probably damaging	Het
Cenpe	T	A	3: 134,976,715 (GRCm39)	C2441S	probably damaging	Het
Chn2	A	T	6: 54,267,272 (GRCm39)	K118*	probably null	Het
Chst12	G	T	5: 140,510,167 (GRCm39)	E265*	probably null	Het
Cp	C	A	3: 20,043,379 (GRCm39)	Q22K	probably benign	Het
Diaph3	A	T	14: 87,222,306 (GRCm39)	W404R	probably damaging	Het
Dnajb13	T	G	7: 100,160,030 (GRCm39)	E69A	probably damaging	Het
Dzip1l	A	G	9: 99,549,705 (GRCm39)	E725G	probably damaging	Het
Dzip3	T	A	16: 48,774,117 (GRCm39)	K373*	probably null	Het
Fmn1	C	T	2: 113,195,266 (GRCm39)	T322I	unknown	Het
Gbp9	T	C	5: 105,233,028 (GRCm39)	Y208C	probably benign	Het
Gtf2i	T	A	5: 134,289,425 (GRCm39)	K418N	probably damaging	Het
Herc3	C	T	6: 58,832,745 (GRCm39)	Q137*	probably null	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Iqcm	A	T	8: 76,472,914 (GRCm39)	D251V	probably damaging	Het
Itpr3	A	T	17: 27,308,885 (GRCm39)	I363F	possibly damaging	Het
Khnyn	A	T	14: 56,124,660 (GRCm39)	K305*	probably null	Het
Klf17	A	G	4: 117,617,856 (GRCm39)	V167A	possibly damaging	Het
Letm2	T	C	8: 26,071,795 (GRCm39)	D369G	probably benign	Het
Lrrc31	A	G	3: 30,744,085 (GRCm39)	V141A	possibly damaging	Het
Msh5	A	T	17: 35,261,164 (GRCm39)		probably null	Het
Neb	G	A	2: 52,113,224 (GRCm39)		probably benign	Het
Or10j5	T	A	1: 172,785,009 (GRCm39)	S216T	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Padi6	T	C	4: 140,469,191 (GRCm39)	I50V	probably benign	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Ppy	A	G	11: 101,991,525 (GRCm39)	Y5H	probably benign	Het
Psmc1	T	C	12: 100,081,734 (GRCm39)	L112S	probably damaging	Het
Ptov1	A	G	7: 44,515,026 (GRCm39)	I195T	possibly damaging	Het
Rassf10	C	A	7: 112,553,631 (GRCm39)	D77E	probably benign	Het
Slc25a45	T	C	19: 5,934,490 (GRCm39)	S153P	possibly damaging	Het
Slco1a5	G	A	6: 142,204,791 (GRCm39)	R126C	probably damaging	Het
Srebf2	T	C	15: 82,061,652 (GRCm39)	V366A	probably benign	Het
St6galnac5	T	C	3: 152,686,772 (GRCm39)	S61G	probably benign	Het
Sult6b1	A	T	17: 79,213,005 (GRCm39)	V82D	probably benign	Het
Tep1	A	T	14: 51,088,084 (GRCm39)	C818S	possibly damaging	Het
Tex15	T	G	8: 34,072,638 (GRCm39)	F2728L	possibly damaging	Het
Tm9sf2	T	A	14: 122,382,558 (GRCm39)	F190Y	probably damaging	Het
Tmem175	T	C	5: 108,794,298 (GRCm39)	L476P	probably damaging	Het
Tmprss11c	T	C	5: 86,385,689 (GRCm39)	K248R	probably benign	Het
Tnk2	T	A	16: 32,489,668 (GRCm39)	F316I	probably damaging	Het
Vmn2r75	T	A	7: 85,813,372 (GRCm39)	M477L	probably benign	Het
Vmn2r83	A	C	10: 79,314,921 (GRCm39)	I390L	probably benign	Het
Vmn2r88	A	G	14: 51,648,603 (GRCm39)	Y49C	probably damaging	Het
Zdhhc4	T	A	5: 143,302,377 (GRCm39)	I318F	probably damaging	Het
Zmat4	A	T	8: 24,238,457 (GRCm39)	D27V	probably 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
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
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'- GTGGCAAAAGCCTTCTTCCTC -3'
(R):5'- CCCAGTACTTTCTCTACATGGG -3'

Sequencing Primer
(F):5'- CAGACTTTATGTGATGTACTGTGACC -3'
(R):5'- AGTACTTTCTCTACATGGGCTTTG -3'

Posted On

2016-06-06