Mutagenetix > Incidental Mutation

Incidental Mutation 'R3726:Or6c212'

270799

Institutional Source

Beutler Lab

Gene Symbol

Or6c212

Ensembl Gene

ENSMUSG00000096858

Gene Name

olfactory receptor family 6 subfamily C member 212

Synonyms

Olfr805, GA_x6K02T2PULF-11402237-11401278, MOR110-4

MMRRC Submission

040717-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R3726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129558452-129559411 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129558984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 143 (V143D)

Ref Sequence

ENSEMBL: ENSMUSP00000149493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078876] [ENSMUST00000204717] [ENSMUST00000216794] [ENSMUST00000217219]

AlphaFold

Q8VFI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000078876
AA Change: V143D

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

SMART Domains

Protein: ENSMUSP00000092874
Gene: ENSMUSG00000096858
AA Change: V143D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	3.9e-52	PFAM
Pfam:7tm_1	39	288	5.1e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203573
AA Change: V143D

SMART Domains

Protein: ENSMUSP00000144843
Gene: ENSMUSG00000096858
AA Change: V143D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	3.9e-52	PFAM
Pfam:7tm_1	39	288	5.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204717

Predicted Effect

probably damaging
Transcript: ENSMUST00000216794
AA Change: V143D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217219
AA Change: V143D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (49/49)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402K13Rik	AGAGGAG	AGAG	X: 8,971,342 (GRCm39)		probably benign	Het
Caap1	A	T	4: 94,389,380 (GRCm39)	V318D	probably damaging	Het
Camsap3	T	C	8: 3,653,785 (GRCm39)	L485P	probably damaging	Het
Ccsap	T	C	8: 124,586,100 (GRCm39)	E17G	possibly damaging	Het
Cdk5rap2	C	A	4: 70,153,674 (GRCm39)	K1716N	possibly damaging	Het
Coq3	T	C	4: 21,892,941 (GRCm39)		probably benign	Het
Daam2	T	A	17: 49,776,766 (GRCm39)	D773V	probably damaging	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Fam209	T	C	2: 172,315,915 (GRCm39)	S97P	probably benign	Het
Fam50b	G	A	13: 34,930,869 (GRCm39)	R115H	probably damaging	Het
Fbxo31	A	G	8: 122,305,248 (GRCm39)	F83L	probably damaging	Het
Fsip2	G	T	2: 82,819,311 (GRCm39)	A5015S	possibly damaging	Het
Galnt13	A	G	2: 54,988,669 (GRCm39)	H497R	probably damaging	Het
Ggnbp2	A	G	11: 84,744,920 (GRCm39)	C201R	possibly damaging	Het
Gm8730	T	C	8: 103,591,664 (GRCm39)		noncoding transcript	Het
Gsr	A	G	8: 34,161,565 (GRCm39)	K124R	probably benign	Het
Hdgf	T	C	3: 87,821,804 (GRCm39)	S140P	probably benign	Het
Iqcg	C	T	16: 32,849,411 (GRCm39)	E292K	probably damaging	Het
Lamb1	C	T	12: 31,371,074 (GRCm39)	A1375V	probably null	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lonp1	A	G	17: 56,925,310 (GRCm39)		probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Pcdhb9	T	C	18: 37,534,654 (GRCm39)	L216P	possibly damaging	Het
Ppp3cb	A	G	14: 20,581,010 (GRCm39)		probably null	Het
Ptprm	G	A	17: 67,263,855 (GRCm39)	P464L	possibly damaging	Het
Rars2	A	G	4: 34,645,787 (GRCm39)	T235A	probably benign	Het
Rimkla	A	T	4: 119,334,986 (GRCm39)		probably null	Het
Rnf216	A	T	5: 143,013,701 (GRCm39)	I708N	probably damaging	Het
Six5	T	A	7: 18,830,855 (GRCm39)	V494E	possibly damaging	Het
Slc43a2	A	G	11: 75,433,980 (GRCm39)		probably benign	Het
Slmap	C	A	14: 26,148,397 (GRCm39)	R671S	probably damaging	Het
Smarcal1	T	C	1: 72,665,755 (GRCm39)	F751S	possibly damaging	Het
Sptan1	G	A	2: 29,908,431 (GRCm39)	D1711N	possibly damaging	Het
Sptssa	T	C	12: 54,703,180 (GRCm39)	E30G	probably damaging	Het
Taf1c	A	G	8: 120,329,809 (GRCm39)	F111L	probably damaging	Het
Thbs1	A	G	2: 117,945,191 (GRCm39)	I255V	probably benign	Het
Tmem19	A	G	10: 115,195,675 (GRCm39)		probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tmod1	T	C	4: 46,097,026 (GRCm39)	V273A	probably benign	Het
Trpm8	A	T	1: 88,255,918 (GRCm39)	Y191F	probably benign	Het
Ube4a	T	C	9: 44,844,621 (GRCm39)	I934V	probably damaging	Het
Vpreb3	G	A	10: 75,779,125 (GRCm39)		probably null	Het
Vwf	G	T	6: 125,654,911 (GRCm39)		probably benign	Het
Wdr53	T	C	16: 32,075,538 (GRCm39)	C248R	probably benign	Het
Zfp217	A	G	2: 169,961,130 (GRCm39)	V399A	probably damaging	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het

Other mutations in Or6c212

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Or6c212	APN	10	129,558,814 (GRCm39)	missense	probably benign
IGL01341:Or6c212	APN	10	129,558,747 (GRCm39)	missense	possibly damaging	0.87
IGL01960:Or6c212	APN	10	129,558,756 (GRCm39)	missense	probably damaging	1.00
IGL02729:Or6c212	APN	10	129,559,390 (GRCm39)	missense	probably benign	0.01
IGL02969:Or6c212	APN	10	129,559,065 (GRCm39)	missense	probably damaging	0.99
R0116:Or6c212	UTSW	10	129,558,846 (GRCm39)	missense	probably damaging	1.00
R1236:Or6c212	UTSW	10	129,558,675 (GRCm39)	missense	probably damaging	0.98
R1332:Or6c212	UTSW	10	129,559,116 (GRCm39)	missense	probably damaging	1.00
R2428:Or6c212	UTSW	10	129,558,652 (GRCm39)	missense	probably benign	0.05
R3725:Or6c212	UTSW	10	129,558,984 (GRCm39)	missense	probably damaging	1.00
R3804:Or6c212	UTSW	10	129,558,918 (GRCm39)	missense	possibly damaging	0.93
R4365:Or6c212	UTSW	10	129,559,281 (GRCm39)	missense	probably damaging	0.99
R4630:Or6c212	UTSW	10	129,559,350 (GRCm39)	missense	probably damaging	1.00
R4735:Or6c212	UTSW	10	129,558,792 (GRCm39)	missense	probably benign	0.06
R4923:Or6c212	UTSW	10	129,558,681 (GRCm39)	missense	probably benign	0.03
R4962:Or6c212	UTSW	10	129,558,592 (GRCm39)	missense	probably damaging	1.00
R5324:Or6c212	UTSW	10	129,558,814 (GRCm39)	missense	probably benign
R5406:Or6c212	UTSW	10	129,558,799 (GRCm39)	missense	probably damaging	1.00
R7705:Or6c212	UTSW	10	129,559,018 (GRCm39)	missense	probably benign	0.01
R8464:Or6c212	UTSW	10	129,558,783 (GRCm39)	missense	possibly damaging	0.88
R9368:Or6c212	UTSW	10	129,558,881 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAGCTATGACAAAAGCCATCCATTC -3'
(R):5'- CTCCTTCTTGGAAATGGCATTCAC -3'

Sequencing Primer
(F):5'- GCCATCCATTCTATGAAACGAGTGTC -3'
(R):5'- GCATTCCACGATTCTTGATGAG -3'

Posted On

2015-03-18