Mutagenetix > Incidental Mutation

Incidental Mutation 'R3725:Or6c212'

270744

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

040716-MU

Accession Numbers

Essential gene?

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

Stock #

R3725 (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: 97.1%
20x: 94.5%

Validation Efficiency

96% (55/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	A	7: 139,563,781 (GRCm39)	R740S	possibly damaging	Het
Adamtsl3	A	C	7: 82,261,612 (GRCm39)	D1676A	possibly damaging	Het
Atp6v1a	A	G	16: 43,922,120 (GRCm39)		probably benign	Het
Camsap3	T	C	8: 3,653,785 (GRCm39)	L485P	probably damaging	Het
Ccdc81	A	T	7: 89,515,838 (GRCm39)	F614I	possibly damaging	Het
Cdk5rap2	C	A	4: 70,153,674 (GRCm39)	K1716N	possibly damaging	Het
Cfap47	T	A	X: 78,553,621 (GRCm39)	T285S	probably damaging	Het
Cfh	T	C	1: 140,014,234 (GRCm39)	M1197V	probably damaging	Het
Cyp3a11	A	G	5: 145,802,810 (GRCm39)	F228L	probably benign	Het
Ddx24	A	G	12: 103,383,864 (GRCm39)	M575T	probably benign	Het
Dhx36	A	T	3: 62,395,643 (GRCm39)		probably benign	Het
Dmxl2	T	A	9: 54,301,053 (GRCm39)	I1554L	probably damaging	Het
Dsp	A	G	13: 38,378,665 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,381,594 (GRCm39)	S2181G	probably benign	Het
Epg5	T	C	18: 78,060,894 (GRCm39)	I1959T	probably benign	Het
Fam135a	T	A	1: 24,096,515 (GRCm39)	K77*	probably null	Het
Fam209	T	C	2: 172,315,915 (GRCm39)	S97P	probably benign	Het
Fbxo11	A	G	17: 88,316,714 (GRCm39)	V323A	probably benign	Het
Fzd5	A	G	1: 64,775,498 (GRCm39)	S88P	probably damaging	Het
Galnt12	A	T	4: 47,104,140 (GRCm39)	T133S	probably damaging	Het
Gja8	A	G	3: 96,827,161 (GRCm39)	L167P	probably damaging	Het
Gm8730	T	C	8: 103,591,664 (GRCm39)		noncoding transcript	Het
Gsdmd	A	G	15: 75,737,939 (GRCm39)	D247G	probably benign	Het
Iqcg	A	G	16: 32,840,909 (GRCm39)		probably null	Het
Lamb1	C	T	12: 31,371,074 (GRCm39)	A1375V	probably null	Het
Mlip	A	G	9: 77,097,662 (GRCm39)	S282P	probably damaging	Het
Nfxl1	A	T	5: 72,674,405 (GRCm39)	D831E	probably damaging	Het
Nipbl	T	C	15: 8,325,145 (GRCm39)	D2506G	probably damaging	Het
Or7a39	T	A	10: 78,715,766 (GRCm39)	Y253*	probably null	Het
Pcdhb9	T	C	18: 37,534,654 (GRCm39)	L216P	possibly damaging	Het
Pigc	G	A	1: 161,798,860 (GRCm39)	G281R	possibly damaging	Het
Polr3g	C	T	13: 81,842,754 (GRCm39)	R87H	probably damaging	Het
Ppfia4	T	C	1: 134,241,449 (GRCm39)	D502G	probably benign	Het
Psg18	T	A	7: 18,088,748 (GRCm39)		probably benign	Het
Rad9a	G	A	19: 4,247,694 (GRCm39)	R179C	probably damaging	Het
Rxra	A	G	2: 27,644,289 (GRCm39)	D327G	probably damaging	Het
Samd7	T	C	3: 30,805,283 (GRCm39)	V22A	possibly damaging	Het
Slc22a29	A	T	19: 8,195,973 (GRCm39)	V22D	possibly damaging	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
Smarcb1	T	A	10: 75,752,620 (GRCm39)	K73N	probably benign	Het
Sptssa	T	C	12: 54,703,180 (GRCm39)	E30G	probably damaging	Het
Stpg2	A	G	3: 139,023,238 (GRCm39)	K418R	probably benign	Het
Tasor2	T	C	13: 3,640,538 (GRCm39)	I200V	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
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Uggt1	A	T	1: 36,221,588 (GRCm39)	L43*	probably null	Het
Vmn1r205	A	T	13: 22,776,671 (GRCm39)	F144I	probably damaging	Het
Vmn2r54	G	A	7: 12,366,223 (GRCm39)	T237I	probably benign	Het
Vmn2r7	A	T	3: 64,632,412 (GRCm39)	F17I	possibly damaging	Het
Vpreb3	G	A	10: 75,779,125 (GRCm39)		probably null	Het
Vps13d	T	A	4: 144,842,218 (GRCm39)		probably benign	Het
Zkscan5	A	T	5: 145,157,723 (GRCm39)	R742W	probably damaging	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
R3726: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'- GGAAATGGCATTCACATCTTCTTG -3'

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

Posted On

2015-03-18