Mutagenetix > Incidental Mutation

Incidental Mutation 'R2516:Or6c211'

253825

Institutional Source

Beutler Lab

Gene Symbol

Or6c211

Ensembl Gene

ENSMUSG00000058513

Gene Name

olfactory receptor family 6 subfamily C member 211

Synonyms

Olfr801, GA_x6K02T2PULF-11349138-11348182, MOR110-10

MMRRC Submission

040420-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R2516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129505430-129506386 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129506155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 78 (R78W)

Ref Sequence

ENSEMBL: ENSMUSP00000149555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072063] [ENSMUST00000203424] [ENSMUST00000213294] [ENSMUST00000216067]

AlphaFold

Q8VEU1

Predicted Effect

probably damaging
Transcript: ENSMUST00000072063
AA Change: R78W

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

SMART Domains

Protein: ENSMUSP00000071941
Gene: ENSMUSG00000058513
AA Change: R78W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.2e-51	PFAM
Pfam:7tm_1	39	288	8.8e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203321

Predicted Effect

probably damaging
Transcript: ENSMUST00000203424
AA Change: R41W

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

SMART Domains

Protein: ENSMUSP00000145011
Gene: ENSMUSG00000058513
AA Change: R41W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	1	96	5.9e-18	PFAM
Pfam:7tm_1	2	96	1.3e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213294
AA Change: R78W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216067
AA Change: R78W

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (65/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,159,673 (GRCm39)	I6N	possibly damaging	Het
Aen	T	C	7: 78,555,616 (GRCm39)	V188A	probably damaging	Het
Afg3l1	A	G	8: 124,228,693 (GRCm39)	E753G	probably damaging	Het
Alas1	G	A	9: 106,115,859 (GRCm39)	T385I	probably damaging	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankrd65	A	G	4: 155,875,868 (GRCm39)	T30A	possibly damaging	Het
App	T	C	16: 84,775,117 (GRCm39)	S582G	probably damaging	Het
Arfgef1	A	T	1: 10,223,879 (GRCm39)	V1473E	possibly damaging	Het
Arhgap21	G	A	2: 20,859,809 (GRCm39)	P1196S	probably damaging	Het
Arhgap24	A	G	5: 103,039,776 (GRCm39)	T238A	probably benign	Het
Atf7	T	C	15: 102,437,439 (GRCm39)		probably benign	Het
Best1	G	T	19: 9,970,675 (GRCm39)	S55*	probably null	Het
Capn11	A	G	17: 45,944,725 (GRCm39)	V514A	probably damaging	Het
Cep104	T	A	4: 154,073,603 (GRCm39)	M52K	probably damaging	Het
Clca3a1	C	T	3: 144,443,619 (GRCm39)		probably null	Het
Cyp3a25	T	C	5: 145,939,837 (GRCm39)		probably null	Het
Dmxl2	G	A	9: 54,307,378 (GRCm39)	P2197S	probably damaging	Het
Drosha	T	C	15: 12,859,551 (GRCm39)		probably null	Het
Exosc9	A	G	3: 36,617,311 (GRCm39)	K355R	probably benign	Het
Fut1	A	C	7: 45,268,622 (GRCm39)	H192P	probably benign	Het
Gm572	T	A	4: 148,748,841 (GRCm39)	V166D	possibly damaging	Het
Gm9966	C	T	7: 95,607,735 (GRCm39)	P19S	unknown	Het
Gmds	C	T	13: 32,284,456 (GRCm39)	V219I	probably damaging	Het
Gsn	G	A	2: 35,173,965 (GRCm39)	E25K	probably benign	Het
Il4i1	T	C	7: 44,489,315 (GRCm39)	F368S	probably damaging	Het
Irak1bp1	T	C	9: 82,712,373 (GRCm39)	L98P	probably damaging	Het
Khdrbs3	T	C	15: 68,896,544 (GRCm39)		probably benign	Het
Kndc1	T	C	7: 139,501,738 (GRCm39)	I925T	probably damaging	Het
Laptm4a	T	C	12: 8,988,151 (GRCm39)	I296T	probably benign	Het
Lpl	A	T	8: 69,340,170 (GRCm39)	H55L	probably benign	Het
Lrrk2	C	A	15: 91,640,130 (GRCm39)	N1558K	probably benign	Het
Mfsd2a	A	G	4: 122,844,280 (GRCm39)	L289P	probably damaging	Het
Mmrn2	T	A	14: 34,120,759 (GRCm39)	M543K	probably benign	Het
Mnat1	T	C	12: 73,228,550 (GRCm39)		probably benign	Het
Msto1	A	T	3: 88,819,200 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,535,776 (GRCm39)	Y647H	probably damaging	Het
Nars1	A	T	18: 64,638,087 (GRCm39)	V289E	probably damaging	Het
Oit3	T	A	10: 59,264,167 (GRCm39)	K322N	probably damaging	Het
Oit3	G	A	10: 59,277,507 (GRCm39)		probably benign	Het
Or4k1	T	C	14: 50,377,440 (GRCm39)	I219V	probably benign	Het
Or5b113	T	A	19: 13,342,557 (GRCm39)	C188*	probably null	Het
Or5m12	A	G	2: 85,734,900 (GRCm39)	I166T	probably benign	Het
Pecr	A	T	1: 72,316,469 (GRCm39)	C79S	probably damaging	Het
Plekhn1	T	C	4: 156,307,116 (GRCm39)	D478G	probably damaging	Het
Pls1	A	T	9: 95,658,616 (GRCm39)	M264K	probably benign	Het
Ptprj	C	A	2: 90,305,340 (GRCm39)		probably benign	Het
Pygm	A	G	19: 6,447,631 (GRCm39)	D646G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scn8a	T	C	15: 100,867,043 (GRCm39)	V283A	probably benign	Het
Shisa5	T	C	9: 108,885,575 (GRCm39)		probably null	Het
Slc10a4	A	G	5: 73,165,848 (GRCm39)	I246V	possibly damaging	Het
Slc1a1	A	T	19: 28,870,312 (GRCm39)	I104F	probably benign	Het
Slc22a8	A	G	19: 8,587,559 (GRCm39)	Y511C	probably benign	Het
Slc6a5	A	G	7: 49,606,210 (GRCm39)	N706S	probably benign	Het
Sos2	T	C	12: 69,697,433 (GRCm39)	K96E	probably damaging	Het
Stom	G	A	2: 35,205,977 (GRCm39)	R251*	probably null	Het
Sycp1	T	C	3: 102,752,382 (GRCm39)	E800G	probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tiam2	G	A	17: 3,503,657 (GRCm39)	V945I	probably damaging	Het
Trpm5	G	T	7: 142,628,254 (GRCm39)	P1007Q	probably damaging	Het
Uchl1	T	G	5: 66,839,956 (GRCm39)	I139S	probably damaging	Het
Vmn1r232	A	G	17: 21,134,288 (GRCm39)	I104T	possibly damaging	Het
Vmn2r97	G	A	17: 19,167,814 (GRCm39)	M689I	probably benign	Het
Zc3h18	A	T	8: 123,129,904 (GRCm39)		probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp456	T	C	13: 67,510,491 (GRCm39)	K99R	probably benign	Het

Other mutations in Or6c211

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Or6c211	APN	10	129,505,756 (GRCm39)	missense	probably damaging	1.00
IGL02400:Or6c211	APN	10	129,505,752 (GRCm39)	missense	probably damaging	0.99
IGL02721:Or6c211	APN	10	129,505,992 (GRCm39)	missense	probably benign	0.08
IGL03107:Or6c211	APN	10	129,505,809 (GRCm39)	missense	probably benign	0.00
R0114:Or6c211	UTSW	10	129,505,467 (GRCm39)	missense	probably benign
R0140:Or6c211	UTSW	10	129,505,557 (GRCm39)	missense	probably damaging	1.00
R0652:Or6c211	UTSW	10	129,506,248 (GRCm39)	missense	probably benign	0.08
R1375:Or6c211	UTSW	10	129,506,241 (GRCm39)	missense	probably null	0.97
R1449:Or6c211	UTSW	10	129,506,238 (GRCm39)	missense	probably damaging	0.99
R2026:Or6c211	UTSW	10	129,506,334 (GRCm39)	missense	probably damaging	1.00
R2241:Or6c211	UTSW	10	129,505,764 (GRCm39)	missense	probably damaging	1.00
R2869:Or6c211	UTSW	10	129,505,628 (GRCm39)	nonsense	probably null
R2869:Or6c211	UTSW	10	129,505,628 (GRCm39)	nonsense	probably null
R2870:Or6c211	UTSW	10	129,505,628 (GRCm39)	nonsense	probably null
R2870:Or6c211	UTSW	10	129,505,628 (GRCm39)	nonsense	probably null
R2873:Or6c211	UTSW	10	129,505,628 (GRCm39)	nonsense	probably null
R6562:Or6c211	UTSW	10	129,506,008 (GRCm39)	missense	probably damaging	1.00
R8362:Or6c211	UTSW	10	129,506,100 (GRCm39)	missense	possibly damaging	0.88
R8503:Or6c211	UTSW	10	129,505,512 (GRCm39)	missense	probably damaging	0.99
R8867:Or6c211	UTSW	10	129,505,628 (GRCm39)	nonsense	probably null
R9251:Or6c211	UTSW	10	129,505,980 (GRCm39)	missense	possibly damaging	0.61
Z1177:Or6c211	UTSW	10	129,505,663 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- TTGAGTCCCAACACTAAAGGG -3'
(R):5'- TGACAGATGACCCTCAGCTAC -3'

Sequencing Primer
(F):5'- CCAGTAGGTGACACATTCTGTTG -3'
(R):5'- GATGACCCTCAGCTACAAATTCTG -3'

Posted On

2014-12-04