Mutagenetix > Incidental Mutation

Incidental Mutation 'R9720:Or6c76'

730733

Institutional Source

Beutler Lab

Gene Symbol

Or6c76

Ensembl Gene

ENSMUSG00000050251

Gene Name

olfactory receptor family 6 subfamily C member 76

Synonyms

GA_x6K02T2PULF-11454600-11455541, Olfr809, MOR108-4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R9720 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129611740-129612726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129612581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 281 (V281A)

Ref Sequence

ENSEMBL: ENSMUSP00000151711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059891] [ENSMUST00000203236] [ENSMUST00000203598] [ENSMUST00000218237]

AlphaFold

Q8VEX8

Predicted Effect

probably benign
Transcript: ENSMUST00000059891
AA Change: V266A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000054949
Gene: ENSMUSG00000050251
AA Change: V266A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	44	321	3.5e-49	PFAM
Pfam:7tm_1	54	303	1.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203236

SMART Domains

Protein: ENSMUSP00000145315
Gene: ENSMUSG00000049894

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	308	1.8e-53	PFAM
Pfam:7tm_1	39	288	7.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203598

SMART Domains

Protein: ENSMUSP00000145037
Gene: ENSMUSG00000050251

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	148	8.1e-20	PFAM
Pfam:7tm_1	39	149	1.8e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218237
AA Change: V281A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,154,183 (GRCm39)	V968G	probably damaging	Het
Adam33	A	G	2: 130,900,236 (GRCm39)	V110A		Het
Adamts2	T	C	11: 50,666,954 (GRCm39)	M417T	probably damaging	Het
Adgrv1	A	G	13: 81,740,693 (GRCm39)	I145T	probably damaging	Het
Ampd3	C	A	7: 110,377,056 (GRCm39)	H16N	probably benign	Het
Ank3	A	T	10: 69,825,335 (GRCm39)	S1335C		Het
Ankrd26	G	A	6: 118,498,902 (GRCm39)	S1208L	probably damaging	Het
Atmin	G	A	8: 117,681,653 (GRCm39)		probably null	Het
AU018091	T	C	7: 3,209,272 (GRCm39)	T323A	probably benign	Het
Barx2	A	G	9: 31,765,407 (GRCm39)		probably null	Het
Bltp3b	T	A	10: 89,641,219 (GRCm39)	S797T	probably benign	Het
Brpf3	A	G	17: 29,026,330 (GRCm39)	I468V	probably benign	Het
Cacna1g	T	A	11: 94,302,297 (GRCm39)	H1985L	probably benign	Het
Cass4	T	C	2: 172,269,568 (GRCm39)	V550A	probably benign	Het
Ccdc88a	A	G	11: 29,413,813 (GRCm39)	S784G	probably benign	Het
Cd300ld2	C	T	11: 114,903,118 (GRCm39)		probably null	Het
Cgn	G	A	3: 94,686,621 (GRCm39)	A227V	probably benign	Het
Clcn7	G	T	17: 25,374,471 (GRCm39)	R524L	probably damaging	Het
Cldn22	G	A	8: 48,277,786 (GRCm39)	A75T	probably benign	Het
Ddb1	A	G	19: 10,585,724 (GRCm39)	D146G	probably benign	Het
Dhx32	C	A	7: 133,324,857 (GRCm39)	E607*	probably null	Het
Egfem1	A	G	3: 29,716,580 (GRCm39)	Y350C	probably damaging	Het
Eri2	T	A	7: 119,386,976 (GRCm39)	D181V	probably damaging	Het
Gabrg2	T	C	11: 41,862,673 (GRCm39)	N137S	probably damaging	Het
Gar1	C	T	3: 129,620,497 (GRCm39)	G197S	unknown	Het
Ggta1	G	T	2: 35,303,418 (GRCm39)	D91E	probably benign	Het
Hap1	T	A	11: 100,246,696 (GRCm39)	I70F	probably benign	Het
Hars2	A	G	18: 36,920,607 (GRCm39)	Y150C	probably damaging	Het
Igsf9b	G	A	9: 27,220,810 (GRCm39)	V59I	probably damaging	Het
Il15	T	G	8: 83,058,608 (GRCm39)	K142Q	probably damaging	Het
Klhl23	T	C	2: 69,654,804 (GRCm39)	Y225H	possibly damaging	Het
Krt6b	T	A	15: 101,588,226 (GRCm39)	I145F	probably benign	Het
Lgals3bp	T	A	11: 118,284,083 (GRCm39)	T499S	probably benign	Het
Lrriq4	A	G	3: 30,714,077 (GRCm39)	N490S	probably damaging	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Mical3	A	G	6: 120,935,238 (GRCm39)	S1763P	probably damaging	Het
Ncoa6	A	G	2: 155,250,304 (GRCm39)	V1000A	probably damaging	Het
Nefm	A	G	14: 68,358,793 (GRCm39)	S414P	probably benign	Het
Nphs1	T	C	7: 30,165,499 (GRCm39)	V622A	possibly damaging	Het
Or6d14	T	C	6: 116,534,016 (GRCm39)	V210A	possibly damaging	Het
Pde4dip	T	C	3: 97,603,287 (GRCm39)	D2234G	probably damaging	Het
Pde6c	A	T	19: 38,157,887 (GRCm39)	Y637F	probably benign	Het
Pigg	T	A	5: 108,467,800 (GRCm39)	C266*	probably null	Het
Pkdrej	A	T	15: 85,702,497 (GRCm39)	D1146E	possibly damaging	Het
Pkp2	T	C	16: 16,087,584 (GRCm39)	V756A	probably benign	Het
Pole	C	T	5: 110,484,909 (GRCm39)	T2245I	probably benign	Het
Ppm1g	A	C	5: 31,360,914 (GRCm39)		probably null	Het
Ppp1r36	A	G	12: 76,485,298 (GRCm39)	I340M	possibly damaging	Het
Pvr	G	A	7: 19,643,121 (GRCm39)	R371*	probably null	Het
Rassf9	G	A	10: 102,348,369 (GRCm39)		probably benign	Het
Rtl1	A	C	12: 109,559,882 (GRCm39)	N652K	possibly damaging	Het
Sall4	G	C	2: 168,592,160 (GRCm39)	S998C	probably damaging	Het
Sdk1	T	C	5: 142,197,796 (GRCm39)	Y2150H	probably damaging	Het
Serpinb3b	A	T	1: 107,083,669 (GRCm39)	I170K	probably benign	Het
Shank2	A	T	7: 143,682,137 (GRCm39)	D390V	probably damaging	Het
Slc39a4	A	G	15: 76,500,930 (GRCm39)	V11A	probably benign	Het
Synj2	C	T	17: 6,040,584 (GRCm39)	T220I	probably benign	Het
Taar7a	A	G	10: 23,868,733 (GRCm39)	I216T	probably benign	Het
Tas2r122	G	T	6: 132,688,634 (GRCm39)	D86E	probably benign	Het
Tbxa2r	T	A	10: 81,169,018 (GRCm39)	C236S	probably benign	Het
Trav13d-4	C	A	14: 53,995,286 (GRCm39)	T80K	probably benign	Het
Trav6d-5	T	A	14: 53,033,077 (GRCm39)	C109S	probably damaging	Het
Trio	A	G	15: 27,847,495 (GRCm39)	M982T	probably benign	Het
Unc80	A	T	1: 66,683,485 (GRCm39)	T2176S	possibly damaging	Het
Ypel1	T	C	16: 16,910,890 (GRCm39)	T259A	probably damaging	Het
Zfp120	A	T	2: 149,959,197 (GRCm39)	I397K	probably benign	Het

Other mutations in Or6c76

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01884:Or6c76	APN	10	129,612,697 (GRCm39)	missense	probably benign	0.34
IGL02000:Or6c76	APN	10	129,611,938 (GRCm39)	missense	probably benign	0.03
IGL02146:Or6c76	APN	10	129,612,727 (GRCm39)	utr 3 prime	probably benign
IGL03087:Or6c76	APN	10	129,612,130 (GRCm39)	missense	probably damaging	0.98
IGL03260:Or6c76	APN	10	129,612,521 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Or6c76	UTSW	10	129,612,709 (GRCm39)	missense	probably benign	0.06
PIT4466001:Or6c76	UTSW	10	129,612,142 (GRCm39)	missense	probably benign	0.04
R0564:Or6c76	UTSW	10	129,612,005 (GRCm39)	missense	probably damaging	1.00
R0613:Or6c76	UTSW	10	129,612,131 (GRCm39)	missense	probably damaging	1.00
R1165:Or6c76	UTSW	10	129,612,302 (GRCm39)	missense	probably damaging	0.99
R1556:Or6c76	UTSW	10	129,612,242 (GRCm39)	missense	probably benign	0.05
R5392:Or6c76	UTSW	10	129,612,184 (GRCm39)	missense	probably benign	0.01
R6665:Or6c76	UTSW	10	129,612,116 (GRCm39)	missense	probably damaging	1.00
R7519:Or6c76	UTSW	10	129,612,091 (GRCm39)	missense	probably benign	0.01
R7804:Or6c76	UTSW	10	129,612,091 (GRCm39)	missense	probably benign	0.01
R8022:Or6c76	UTSW	10	129,612,654 (GRCm39)	missense	possibly damaging	0.47
R8301:Or6c76	UTSW	10	129,612,709 (GRCm39)	missense	probably benign	0.06
R8447:Or6c76	UTSW	10	129,612,371 (GRCm39)	missense	possibly damaging	0.89
R9104:Or6c76	UTSW	10	129,612,521 (GRCm39)	missense	probably damaging	1.00
R9216:Or6c76	UTSW	10	129,611,796 (GRCm39)	missense	probably benign
R9679:Or6c76	UTSW	10	129,611,882 (GRCm39)	missense	probably damaging	1.00
Z1176:Or6c76	UTSW	10	129,611,911 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCACACTTATGACCACGCTGATG -3'
(R):5'- CTGAAACAAGGATACGTTCATCAG -3'

Sequencing Primer
(F):5'- GACCACGCTGATGCTGATAATTC -3'
(R):5'- CAAGGATACGTTCATCAGTTTTATGG -3'

Posted On

2022-10-06