Mutagenetix > Incidental Mutation

Incidental Mutation 'R9291:Or6c206'

704289

Institutional Source

Beutler Lab

Gene Symbol

Or6c206

Ensembl Gene

ENSMUSG00000095483

Gene Name

olfactory receptor family 6 subfamily C member 206

Synonyms

GA_x6K02T2PULF-10947193-10948131, MOR111-12, Olfr776

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R9291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129096832-129097770 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129097202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 124 (I124T)

Ref Sequence

ENSEMBL: ENSMUSP00000150656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073704] [ENSMUST00000204573] [ENSMUST00000213512]

AlphaFold

Q7TRI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000073704
AA Change: I124T

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

SMART Domains

Protein: ENSMUSP00000073383
Gene: ENSMUSG00000095483
AA Change: I124T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	8.3e-50	PFAM
Pfam:7tm_1	39	288	3.9e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204573

SMART Domains

Protein: ENSMUSP00000145475
Gene: ENSMUSG00000062914

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	1.4e-42	PFAM
Pfam:7tm_1	38	287	1.5e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213512
AA Change: I124T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,464 (GRCm39)	N551S	probably benign	Het
Abcg5	C	A	17: 84,976,380 (GRCm39)	V486L	probably benign	Het
Acoxl	T	A	2: 127,814,493 (GRCm39)	I303N	probably damaging	Het
Atp6v1h	G	T	1: 5,220,284 (GRCm39)	W464L	probably null	Het
Cdcp2	A	G	4: 106,964,053 (GRCm39)	D301G	probably damaging	Het
Cenpv	T	C	11: 62,429,688 (GRCm39)	D115G	probably benign	Het
Cnfn	T	C	7: 25,067,476 (GRCm39)	D67G	possibly damaging	Het
Col27a1	A	C	4: 63,142,539 (GRCm39)	I76L	probably damaging	Het
Crb2	G	A	2: 37,682,213 (GRCm39)	V865I	probably damaging	Het
Ctf1	T	A	7: 127,316,204 (GRCm39)	L58Q	probably damaging	Het
Dennd6b	C	T	15: 89,071,590 (GRCm39)	V276M	possibly damaging	Het
Dis3l2	A	G	1: 86,901,215 (GRCm39)	T483A	possibly damaging	Het
Dlg5	T	C	14: 24,241,229 (GRCm39)	T223A	probably damaging	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dnah8	T	C	17: 30,944,099 (GRCm39)	I1772T	probably damaging	Het
Dscaml1	T	C	9: 45,359,251 (GRCm39)	I170T	probably damaging	Het
Ehd4	G	T	2: 119,921,755 (GRCm39)	D500E	probably damaging	Het
Elac2	T	C	11: 64,883,142 (GRCm39)	I388T	probably damaging	Het
Entpd6	G	A	2: 150,608,959 (GRCm39)	V348M	probably benign	Het
Epg5	T	A	18: 78,056,065 (GRCm39)	C1746*	probably null	Het
Exosc2	G	T	2: 31,560,871 (GRCm39)	M40I	probably benign	Het
Fam193a	T	C	5: 34,593,835 (GRCm39)	Y27H	probably damaging	Het
Gm8005	A	G	14: 42,258,885 (GRCm39)	F148L		Het
Hectd4	T	C	5: 121,487,028 (GRCm39)	V3341A	probably benign	Het
Hecw1	A	G	13: 14,491,522 (GRCm39)	V77A	probably benign	Het
Irf2bp1	T	A	7: 18,738,458 (GRCm39)	C33S	probably damaging	Het
Kank4	A	T	4: 98,666,688 (GRCm39)	H586Q	probably benign	Het
Kcnu1	A	G	8: 26,390,041 (GRCm39)	N619S	probably benign	Het
Kndc1	A	G	7: 139,475,140 (GRCm39)	E13G	possibly damaging	Het
Lrp2	A	T	2: 69,310,379 (GRCm39)	D2731E	probably damaging	Het
Lyst	A	G	13: 13,883,938 (GRCm39)	N2942S	probably benign	Het
Maml3	G	A	3: 51,764,328 (GRCm39)	T212M	probably benign	Het
Mill2	T	C	7: 18,575,416 (GRCm39)	V41A	probably benign	Het
Moxd2	C	A	6: 40,857,362 (GRCm39)	C466F	probably damaging	Het
Nefh	A	G	11: 4,890,871 (GRCm39)	S583P	probably benign	Het
Nlrp9b	T	A	7: 19,758,511 (GRCm39)	S583T	possibly damaging	Het
Nup214	T	G	2: 31,867,806 (GRCm39)	M91R	probably benign	Het
Or4c121	A	C	2: 89,024,138 (GRCm39)	M80R	possibly damaging	Het
Or8k53	A	T	2: 86,177,768 (GRCm39)	I114N	probably benign	Het
Otud4	A	G	8: 80,372,952 (GRCm39)	Y90C	probably damaging	Het
Papln	C	A	12: 83,825,284 (GRCm39)	T575N	probably benign	Het
Pkhd1l1	T	A	15: 44,433,372 (GRCm39)	N3417K	probably damaging	Het
Pop7	A	G	5: 137,499,911 (GRCm39)	*141Q	probably null	Het
Pramel26	A	T	4: 143,539,251 (GRCm39)	Y81N	probably benign	Het
Rchy1	A	G	5: 92,099,765 (GRCm39)	L191S	possibly damaging	Het
Rims1	T	C	1: 22,467,746 (GRCm39)	D296G		Het
Sftpb	T	A	6: 72,286,880 (GRCm39)	C261*	probably null	Het
Sgcd	C	T	11: 46,870,166 (GRCm39)	C265Y	probably damaging	Het
Slc44a5	G	A	3: 153,962,218 (GRCm39)	V384M	possibly damaging	Het
Slx4ip	T	A	2: 136,888,716 (GRCm39)	N132K	probably benign	Het
Sspo	C	T	6: 48,473,330 (GRCm39)	T4861M	probably damaging	Het
Swt1	T	A	1: 151,286,694 (GRCm39)	E266V	probably damaging	Het
Tbc1d9	A	G	8: 83,987,750 (GRCm39)	D903G	probably damaging	Het
Tbx18	A	T	9: 87,611,535 (GRCm39)	M165K	probably damaging	Het
Tmem25	T	C	9: 44,706,799 (GRCm39)	N282S	probably damaging	Het
Tom1l2	T	C	11: 60,153,556 (GRCm39)	I140M	probably benign	Het
Trak2	A	G	1: 58,943,058 (GRCm39)	S783P	probably damaging	Het
Trpv4	G	A	5: 114,768,068 (GRCm39)	T534M	probably benign	Het
Ttc6	G	T	12: 57,622,730 (GRCm39)	R43M	probably damaging	Het
Vmn1r194	A	G	13: 22,428,875 (GRCm39)	Y164C	probably benign	Het
Vmn1r228	T	C	17: 20,997,023 (GRCm39)	Y165C	probably benign	Het
Vps13b	C	A	15: 35,847,059 (GRCm39)	T2614K	probably damaging	Het
Zdhhc14	T	C	17: 5,698,237 (GRCm39)	F102S	probably benign	Het
Zyg11b	A	G	4: 108,108,014 (GRCm39)	M464T	probably benign	Het

Other mutations in Or6c206

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01444:Or6c206	APN	10	129,097,204 (GRCm39)	missense	probably damaging	1.00
IGL01956:Or6c206	APN	10	129,096,911 (GRCm39)	missense	possibly damaging	0.88
IGL03299:Or6c206	APN	10	129,097,196 (GRCm39)	missense	probably benign	0.26
IGL03388:Or6c206	APN	10	129,097,312 (GRCm39)	missense	probably benign	0.00
IGL02802:Or6c206	UTSW	10	129,097,136 (GRCm39)	splice site	probably null
R1538:Or6c206	UTSW	10	129,097,082 (GRCm39)	missense	probably damaging	0.99
R3711:Or6c206	UTSW	10	129,097,093 (GRCm39)	nonsense	probably null
R3712:Or6c206	UTSW	10	129,097,093 (GRCm39)	nonsense	probably null
R4201:Or6c206	UTSW	10	129,097,646 (GRCm39)	missense	probably benign	0.19
R4202:Or6c206	UTSW	10	129,097,646 (GRCm39)	missense	probably benign	0.19
R4726:Or6c206	UTSW	10	129,097,045 (GRCm39)	missense	possibly damaging	0.84
R5029:Or6c206	UTSW	10	129,097,707 (GRCm39)	missense	probably benign	0.15
R5623:Or6c206	UTSW	10	129,096,901 (GRCm39)	missense	probably benign	0.17
R7566:Or6c206	UTSW	10	129,097,469 (GRCm39)	missense	probably damaging	1.00
R7678:Or6c206	UTSW	10	129,096,937 (GRCm39)	missense	probably damaging	0.98
R9149:Or6c206	UTSW	10	129,097,184 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTAGATTCCCAGTTAAAGACTCC -3'
(R):5'- GCCTTGTATCTGAGCAAGACAG -3'

Sequencing Primer
(F):5'- CCCAGTTAAAGACTCCTATGTATTTC -3'
(R):5'- TCTGAGCAAGACAGTTGTAAAATG -3'

Posted On

2022-03-25