Mutagenetix > Incidental Mutation

Incidental Mutation 'R9216:Or6c76'

699203

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

068958-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R9216 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129611740-129612726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129611796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 4 (R4S)

Ref Sequence

ENSEMBL: ENSMUSP00000145037 (fasta)

Gene Model

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

AlphaFold

Q8VEX8

Predicted Effect

probably benign
Transcript: ENSMUST00000059891
AA Change: R4S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054949
Gene: ENSMUSG00000050251
AA Change: R4S

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
AA Change: R4S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145037
Gene: ENSMUSG00000050251
AA Change: R4S

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: R19S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (50/50)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	A	T	12: 52,927,668 (GRCm39)	T193S	probably benign	Het
Anpep	T	C	7: 79,486,049 (GRCm39)	T558A	possibly damaging	Het
Asap2	A	G	12: 21,263,191 (GRCm39)	I269V	probably benign	Het
B3galnt2	T	C	13: 14,165,423 (GRCm39)	V273A	probably benign	Het
Bag3	C	A	7: 128,143,923 (GRCm39)	D306E	possibly damaging	Het
Bahcc1	C	T	11: 120,177,514 (GRCm39)	P2076S	probably damaging	Het
Btbd7	A	C	12: 102,761,563 (GRCm39)	L541V	probably damaging	Het
C6	A	T	15: 4,820,465 (GRCm39)	D492V	probably damaging	Het
Cdhr5	C	T	7: 140,851,615 (GRCm39)	S563N	possibly damaging	Het
Cnn1	C	G	9: 22,019,474 (GRCm39)	L281V	probably benign	Het
Egflam	G	A	15: 7,281,942 (GRCm39)	T398I	probably benign	Het
Eif4g2	T	G	7: 110,673,415 (GRCm39)	D788A	probably benign	Het
Elavl4	T	C	4: 110,108,546 (GRCm39)	E66G	probably damaging	Het
Fbxw16	T	A	9: 109,276,887 (GRCm39)	D87V	probably damaging	Het
Fsip2	A	T	2: 82,820,425 (GRCm39)	D5386V	probably damaging	Het
Ftl1	A	C	7: 45,108,959 (GRCm39)	S33A	probably benign	Het
Gm21560	T	C	14: 6,218,338 (GRCm38)	R47G	probably damaging	Het
Itpkc	A	T	7: 26,927,429 (GRCm39)	C162S	probably benign	Het
Katnip	T	A	7: 125,471,926 (GRCm39)	I1531N	probably damaging	Het
Kremen2	C	T	17: 23,962,781 (GRCm39)	A102T	probably damaging	Het
L3mbtl1	A	T	2: 162,806,972 (GRCm39)	Q480L	probably benign	Het
Lyst	T	C	13: 13,823,188 (GRCm39)	C1387R	probably benign	Het
Nmi	A	G	2: 51,846,003 (GRCm39)	V93A	probably damaging	Het
Ntn1	T	C	11: 68,117,397 (GRCm39)	K484R	possibly damaging	Het
Olig1	T	C	16: 91,066,915 (GRCm39)	S51P	probably benign	Het
Pah	G	T	10: 87,357,888 (GRCm39)	V4F	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pramel39-ps	A	T	5: 94,450,952 (GRCm39)	N391K	possibly damaging	Het
Prox1	C	A	1: 189,892,905 (GRCm39)	E513D	possibly damaging	Het
Psd3	T	C	8: 68,573,539 (GRCm39)	N214S	probably benign	Het
Rhobtb1	A	G	10: 69,108,628 (GRCm39)	S505G	probably benign	Het
Ryr1	A	T	7: 28,801,277 (GRCm39)	L829H	probably damaging	Het
Sec16a	A	T	2: 26,304,401 (GRCm39)	D852E		Het
Senp2	T	C	16: 21,847,344 (GRCm39)		probably null	Het
Sf3b1	A	G	1: 55,051,376 (GRCm39)	V184A	probably benign	Het
Skint5	T	C	4: 113,392,955 (GRCm39)	T1226A	unknown	Het
Slc1a6	G	A	10: 78,637,692 (GRCm39)	R406H	probably damaging	Het
Slc26a4	C	A	12: 31,578,659 (GRCm39)	V665L	possibly damaging	Het
Spef2	T	C	15: 9,647,611 (GRCm39)	Y932C	probably damaging	Het
Spidr	T	A	16: 15,936,814 (GRCm39)	N97I	probably benign	Het
Ttn	A	G	2: 76,748,504 (GRCm39)	S4182P	probably damaging	Het
Tubb6	T	C	18: 67,534,514 (GRCm39)	S138P	probably damaging	Het
Ubr2	C	T	17: 47,292,285 (GRCm39)	A393T	probably benign	Het
Utrn	G	T	10: 12,689,229 (GRCm39)	P19T	probably benign	Het
Vcl	T	G	14: 21,033,515 (GRCm39)	L157W	probably damaging	Het
Vmn1r184	A	T	7: 25,966,703 (GRCm39)	I150F	probably benign	Het
Vmn1r22	A	T	6: 57,877,257 (GRCm39)	M240K	possibly damaging	Het
Vmn2r14	A	T	5: 109,369,112 (GRCm39)	S154T	probably benign	Het
Wbp2	T	C	11: 115,974,724 (GRCm39)	N37D	probably benign	Het
Zfc3h1	C	G	10: 115,221,528 (GRCm39)	D142E	unknown	Het
Zmym6	T	C	4: 127,002,500 (GRCm39)	V577A	probably benign	Het
Zxdc	C	A	6: 90,359,189 (GRCm39)	T607K	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
R9679:Or6c76	UTSW	10	129,611,882 (GRCm39)	missense	probably damaging	1.00
R9720:Or6c76	UTSW	10	129,612,581 (GRCm39)	missense	probably benign	0.07
Z1176:Or6c76	UTSW	10	129,611,911 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGATAAAGACACACAGCCA -3'
(R):5'- CTGAGGAAGAAATACATGGGTGTC -3'

Sequencing Primer
(F):5'- CACACACACACAGAGAGAGAGAG -3'
(R):5'- AGAAATACATGGGTGTCTTCAGGTG -3'

Posted On

2022-02-07