Mutagenetix > Incidental Mutation

Incidental Mutation 'R1525:Or2t6'

167806

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

040872-MU

Accession Numbers

Essential gene?

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

Stock #

R1525 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8293683-8294633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14175725 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 119 (Y119F)

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: Y119F

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

SMART Domains

Protein: ENSMUSP00000046509
Gene: ENSMUSG00000052417
AA Change: Y119F

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: Y119F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216079
AA Change: Y119F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217642
AA Change: Y119F

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,252,062 (GRCm39)	H840Q	probably benign	Het
Amotl2	C	T	9: 102,605,767 (GRCm39)	R540C	probably damaging	Het
Brpf1	A	G	6: 113,294,115 (GRCm39)	E605G	probably damaging	Het
Cacna2d3	T	C	14: 28,694,199 (GRCm39)	I865V	probably benign	Het
Cdh24	A	T	14: 54,876,046 (GRCm39)	F199I	probably damaging	Het
Cdk9	A	G	2: 32,600,521 (GRCm39)	V27A	probably damaging	Het
Cfap69	G	T	5: 5,690,230 (GRCm39)		probably null	Het
Cyp2d11	G	T	15: 82,273,498 (GRCm39)	L458I	probably damaging	Het
Dchs1	T	C	7: 105,408,138 (GRCm39)	E1898G	probably damaging	Het
Dennd4b	G	T	3: 90,178,177 (GRCm39)	L456F	probably damaging	Het
Dgat1	T	C	15: 76,395,786 (GRCm39)	T66A	probably benign	Het
Dock10	C	A	1: 80,583,881 (GRCm39)		probably null	Het
Fam110b	A	G	4: 5,799,578 (GRCm39)	D332G	possibly damaging	Het
Fem1al	A	C	11: 29,773,994 (GRCm39)	Y488D	probably benign	Het
Frmd4b	G	A	6: 97,273,347 (GRCm39)	P628S	probably damaging	Het
Ice1	A	T	13: 70,753,529 (GRCm39)	H852Q	probably benign	Het
Il17ra	T	C	6: 120,450,751 (GRCm39)	V116A	probably damaging	Het
Ints9	T	C	14: 65,232,460 (GRCm39)	I173T	probably benign	Het
Kctd14	A	T	7: 97,107,074 (GRCm39)	M110L	probably benign	Het
Krt6a	T	G	15: 101,602,637 (GRCm39)	Y16S	probably benign	Het
Lamc2	T	C	1: 153,006,502 (GRCm39)	N883S	probably benign	Het
Larp4b	C	T	13: 9,195,486 (GRCm39)	T195M	probably damaging	Het
Lrp1	A	G	10: 127,375,398 (GRCm39)	L4432P	probably damaging	Het
Mei4	T	C	9: 81,772,252 (GRCm39)	S22P	probably damaging	Het
Mep1a	T	C	17: 43,802,527 (GRCm39)	Q166R	probably damaging	Het
Mroh2b	C	A	15: 4,980,612 (GRCm39)		probably null	Het
Myoc	T	G	1: 162,476,220 (GRCm39)	L308R	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Or1j21	A	T	2: 36,684,155 (GRCm39)	R302S	probably null	Het
Or4c101	C	G	2: 88,389,985 (GRCm39)	S57R	probably damaging	Het
Pdilt	T	A	7: 119,087,217 (GRCm39)	T478S	probably damaging	Het
Pias1	T	C	9: 62,827,769 (GRCm39)	K222E	probably damaging	Het
Prss16	A	C	13: 22,193,613 (GRCm39)	L61V	possibly damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Pvr	G	A	7: 19,644,551 (GRCm39)	Q328*	probably null	Het
Ranbp3	A	G	17: 57,017,865 (GRCm39)	D481G	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,115 (GRCm39)		probably benign	Het
Ryr3	G	T	2: 112,508,435 (GRCm39)	D3419E	probably damaging	Het
Scn1a	C	T	2: 66,149,806 (GRCm39)	W946*	probably null	Het
Sh3pxd2a	T	C	19: 47,266,864 (GRCm39)	K242E	probably damaging	Het
Slc34a2	A	G	5: 53,226,848 (GRCm39)	D657G	probably benign	Het
Stard9	T	A	2: 120,532,533 (GRCm39)	I2930K	probably benign	Het
Syna	T	C	5: 134,588,112 (GRCm39)	D279G	probably benign	Het
Tfr2	T	C	5: 137,577,292 (GRCm39)	F415L	probably benign	Het
Tmem97	T	A	11: 78,433,586 (GRCm39)	Y103F	probably damaging	Het
Tmem97	A	T	11: 78,433,587 (GRCm39)	Y103N	probably damaging	Het
Txndc2	T	A	17: 65,945,310 (GRCm39)	D289V	probably damaging	Het
Zbtb1	T	G	12: 76,433,206 (GRCm39)	D397E	probably benign	Het
Zc3h18	T	C	8: 123,140,677 (GRCm39)	S847P	probably benign	Het
Zfp382	G	A	7: 29,833,144 (GRCm39)	G265E	probably damaging	Het
Zfp410	T	C	12: 84,369,740 (GRCm39)	L39S	probably damaging	Het
Zfp729a	G	T	13: 67,767,440 (GRCm39)	P930T	probably benign	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
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
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'- AGGTGGCAAAAGCCTTCTTCCTC -3'
(R):5'- CCAGTGACTTCACCTTTGTGGGAC -3'

Sequencing Primer
(F):5'- CTGTGACCAGTATCTGGGCATAAG -3'
(R):5'- AAAGCCTCAGGATTCCTGTTCAG -3'

Posted On

2014-04-13