Mutagenetix > Incidental Mutation

Incidental Mutation 'R5699:Or6c3'

446582

Institutional Source

Beutler Lab

Gene Symbol

Or6c3

Ensembl Gene

ENSMUSG00000049217

Gene Name

olfactory receptor family 6 subfamily C member 3

Synonyms

GA_x6K02T2PULF-11151514-11152449, Olfr788, MOR111-4

MMRRC Submission

043327-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R5699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129308563-129309498 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 129308746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 62 (N62H)

Ref Sequence

ENSEMBL: ENSMUSP00000151054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056961] [ENSMUST00000213222]

AlphaFold

Q8VFI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000056961
AA Change: N62H

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

SMART Domains

Protein: ENSMUSP00000054710
Gene: ENSMUSG00000049217
AA Change: N62H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	1.8e-49	PFAM
Pfam:7tm_1	38	287	1.2e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213222
AA Change: N62H

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,225,320 (GRCm39)		noncoding transcript	Het
4930486L24Rik	A	G	13: 61,001,410 (GRCm39)	F106L	possibly damaging	Het
Adam11	A	T	11: 102,664,466 (GRCm39)	M385L	probably benign	Het
Adgre1	C	T	17: 57,788,007 (GRCm39)	P925S	probably benign	Het
Adh7	G	A	3: 137,932,087 (GRCm39)	A234T	probably benign	Het
Ano2	A	G	6: 125,849,703 (GRCm39)	E475G	probably damaging	Het
C2cd4c	A	G	10: 79,448,385 (GRCm39)	V254A	probably benign	Het
Car13	A	G	3: 14,715,749 (GRCm39)	Y89C	probably damaging	Het
Cd38	A	G	5: 44,057,728 (GRCm39)	K100R	probably damaging	Het
Cdh11	A	G	8: 103,361,175 (GRCm39)	I721T	probably damaging	Het
Cdh2	G	A	18: 16,779,579 (GRCm39)	Q161*	probably null	Het
Clk1	T	C	1: 58,459,354 (GRCm39)	K135R	probably damaging	Het
Col5a1	G	A	2: 27,887,611 (GRCm39)	G961R	unknown	Het
Cpt1b	T	A	15: 89,308,476 (GRCm39)	I151F	probably benign	Het
Cyp51	A	G	5: 4,151,213 (GRCm39)	F139L	probably damaging	Het
Disp1	TTGA	T	1: 182,870,119 (GRCm39)		probably null	Het
Dnah8	T	C	17: 31,029,298 (GRCm39)	I4089T	probably benign	Het
Dnali1	C	T	4: 124,952,843 (GRCm39)	V227M	possibly damaging	Het
Eml4	T	G	17: 83,717,514 (GRCm39)	S29A	probably benign	Het
Eps8l3	C	A	3: 107,786,895 (GRCm39)	P24T	probably benign	Het
Fancc	A	T	13: 63,478,446 (GRCm39)		probably null	Het
Firrm	A	T	1: 163,785,120 (GRCm39)	V753D	probably benign	Het
Grid2	G	A	6: 63,885,975 (GRCm39)	A124T	probably damaging	Het
Ikbke	C	T	1: 131,204,204 (GRCm39)		probably null	Het
Kyat1	G	A	2: 30,076,662 (GRCm39)	A284V	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lmbrd2	G	T	15: 9,175,269 (GRCm39)	L393F	probably benign	Het
Lrrc26	T	A	2: 25,180,536 (GRCm39)	L179Q	probably damaging	Het
Mlx	A	G	11: 100,979,520 (GRCm39)	D113G	possibly damaging	Het
Myod1	A	G	7: 46,026,407 (GRCm39)	K104R	probably damaging	Het
Nwd1	G	A	8: 73,429,602 (GRCm39)		probably null	Het
Or56b2j	T	G	7: 104,353,200 (GRCm39)	V142G	probably damaging	Het
Or5b118	A	G	19: 13,448,336 (GRCm39)	M1V	probably null	Het
Pacsin3	A	T	2: 91,093,126 (GRCm39)	Y206F	probably damaging	Het
Pcdhgb5	T	A	18: 37,864,970 (GRCm39)	V255E	probably damaging	Het
Pdp1	T	C	4: 11,960,907 (GRCm39)	D468G	possibly damaging	Het
Pgr	C	T	9: 8,900,600 (GRCm39)		probably benign	Het
Prrt2	T	A	7: 126,617,899 (GRCm39)	Y345F	probably benign	Het
Rbbp8nl	T	C	2: 179,920,461 (GRCm39)	T515A	probably damaging	Het
Rc3h1	G	T	1: 160,757,823 (GRCm39)	R47L	probably damaging	Het
Rfpl4b	T	A	10: 38,697,281 (GRCm39)	I107F	possibly damaging	Het
Rsbn1	T	C	3: 103,869,801 (GRCm39)	F754S	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scn3a	T	C	2: 65,337,608 (GRCm39)	T630A	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slco1a5	C	A	6: 142,194,542 (GRCm39)	C367F	probably damaging	Het
Slit1	A	G	19: 41,613,959 (GRCm39)		probably null	Het
Slit2	G	A	5: 48,378,333 (GRCm39)		probably null	Het
Snrnp40	G	T	4: 130,258,958 (GRCm39)	G122V	possibly damaging	Het
Stk16	T	A	1: 75,190,248 (GRCm39)	M111K	probably damaging	Het
Tbc1d2	T	C	4: 46,616,298 (GRCm39)	I477V	probably benign	Het
Tll1	T	A	8: 64,570,974 (GRCm39)	E199D	probably damaging	Het
Trhde	A	T	10: 114,424,407 (GRCm39)	D459E	probably benign	Het
Ttn	T	C	2: 76,541,881 (GRCm39)	R25375G	possibly damaging	Het
Tubgcp2	A	T	7: 139,578,701 (GRCm39)	M757K	possibly damaging	Het
Ubap1l	T	A	9: 65,279,337 (GRCm39)	V212D	possibly damaging	Het
Ubqln5	A	G	7: 103,778,632 (GRCm39)	V64A	possibly damaging	Het
Usp47	A	G	7: 111,709,204 (GRCm39)	M1337V	probably benign	Het
Vmn1r201	T	A	13: 22,659,409 (GRCm39)	Y208N	probably damaging	Het
Xkr8	C	T	4: 132,455,368 (GRCm39)	R335H	probably damaging	Het
Zbtb49	A	T	5: 38,373,870 (GRCm39)	C25S	probably damaging	Het
Zeb2	T	A	2: 44,887,800 (GRCm39)	N404I	probably damaging	Het

Other mutations in Or6c3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01669:Or6c3	APN	10	129,309,080 (GRCm39)	missense	probably damaging	1.00
IGL02393:Or6c3	APN	10	129,309,064 (GRCm39)	missense	probably damaging	1.00
IGL03010:Or6c3	APN	10	129,308,843 (GRCm39)	missense	probably damaging	1.00
IGL03325:Or6c3	APN	10	129,309,474 (GRCm39)	missense	probably benign	0.02
R1298:Or6c3	UTSW	10	129,308,933 (GRCm39)	missense	probably damaging	1.00
R2215:Or6c3	UTSW	10	129,309,289 (GRCm39)	missense	probably damaging	0.99
R5482:Or6c3	UTSW	10	129,308,947 (GRCm39)	missense	probably benign	0.31
R5794:Or6c3	UTSW	10	129,309,295 (GRCm39)	missense	possibly damaging	0.95
R6436:Or6c3	UTSW	10	129,308,773 (GRCm39)	missense	probably damaging	0.98
R6480:Or6c3	UTSW	10	129,308,590 (GRCm39)	missense	possibly damaging	0.62
R6884:Or6c3	UTSW	10	129,309,023 (GRCm39)	missense	probably damaging	1.00
R7908:Or6c3	UTSW	10	129,308,867 (GRCm39)	missense	probably damaging	1.00
R8056:Or6c3	UTSW	10	129,309,061 (GRCm39)	missense	probably benign	0.07
R8207:Or6c3	UTSW	10	129,308,953 (GRCm39)	missense	probably benign	0.09
R8777:Or6c3	UTSW	10	129,309,374 (GRCm39)	missense	possibly damaging	0.93
R8777-TAIL:Or6c3	UTSW	10	129,309,374 (GRCm39)	missense	possibly damaging	0.93
R8998:Or6c3	UTSW	10	129,309,386 (GRCm39)	missense	probably benign	0.36
R8999:Or6c3	UTSW	10	129,309,386 (GRCm39)	missense	probably benign	0.36
R9154:Or6c3	UTSW	10	129,308,690 (GRCm39)	missense	probably benign	0.20
Z1176:Or6c3	UTSW	10	129,309,484 (GRCm39)	missense	probably benign	0.04
Z1177:Or6c3	UTSW	10	129,308,933 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATAAGAGGCCACTAAATAAGCTG -3'
(R):5'- GGCAACATAGCGGTCATAGGA -3'

Sequencing Primer
(F):5'- GAGGCCACTAAATAAGCTGCACTC -3'
(R):5'- CATAGCGGTCATAGGACATGGC -3'

Posted On

2016-11-21