Mutagenetix > Incidental Mutation

Incidental Mutation 'R7519:Or6c76'

582573

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

045591-MU

Accession Numbers

Essential gene?

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

Stock #

R7519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129611740-129612726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 129612091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 103 (I103L)

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: I103L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000054949
Gene: ENSMUSG00000050251
AA Change: I103L

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: I103L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000145037
Gene: ENSMUSG00000050251
AA Change: I103L

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: I118L

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	G	A	7: 27,274,155 (GRCm39)	R132K		Het
Acaca	T	C	11: 84,136,682 (GRCm39)	S571P	probably damaging	Het
Adamts20	T	G	15: 94,223,869 (GRCm39)	K1286N	possibly damaging	Het
Adamts7	A	G	9: 90,079,132 (GRCm39)	D1477G	probably benign	Het
Alox12b	C	T	11: 69,054,039 (GRCm39)	T207I	probably benign	Het
Arid1b	GGGCGGCGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	17: 5,046,119 (GRCm39)		probably benign	Het
Arid1b	CGGCGG	CGGCGGTGGCGG	17: 5,046,128 (GRCm39)		probably benign	Het
Aspm	T	A	1: 139,418,074 (GRCm39)	N2934K	possibly damaging	Het
Axin2	T	G	11: 108,833,072 (GRCm39)	V419G	probably benign	Het
B4galnt4	A	G	7: 140,644,257 (GRCm39)	T108A	probably damaging	Het
Cacna1s	G	A	1: 135,998,494 (GRCm39)	R174Q	probably damaging	Het
Cdh18	G	T	15: 23,474,298 (GRCm39)	A723S	possibly damaging	Het
Ces4a	T	C	8: 105,871,851 (GRCm39)	M307T	probably damaging	Het
Cobl	T	A	11: 12,203,124 (GRCm39)	I1193F	probably damaging	Het
Crb2	G	T	2: 37,683,332 (GRCm39)	G945W	probably damaging	Het
Ctnna1	T	G	18: 35,307,424 (GRCm39)	I140M	probably benign	Het
Dnah5	T	C	15: 28,390,629 (GRCm39)	S3213P	probably damaging	Het
Fbln7	A	G	2: 128,735,785 (GRCm39)	S258G	probably benign	Het
Fbxo15	T	G	18: 84,982,359 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,785,724 (GRCm39)	Y387C	probably damaging	Het
Flt3l	G	A	7: 44,783,269 (GRCm39)	T176I	unknown	Het
Galk2	G	A	2: 125,825,172 (GRCm39)	R456H	possibly damaging	Het
Gm10840	T	C	11: 106,051,716 (GRCm39)	L14P	unknown	Het
Gm5591	T	C	7: 38,220,094 (GRCm39)	T260A	possibly damaging	Het
Gm6370	T	A	5: 146,430,638 (GRCm39)	D274E	probably damaging	Het
Grhl2	T	A	15: 37,336,556 (GRCm39)	D484E	probably damaging	Het
Hbp1	A	T	12: 31,983,374 (GRCm39)	V360D	probably damaging	Het
Heatr5b	G	T	17: 79,062,646 (GRCm39)	Q1968K	probably benign	Het
Igsf8	C	T	1: 172,143,874 (GRCm39)	T72M	probably benign	Het
Kera	A	T	10: 97,444,884 (GRCm39)	N81I	probably damaging	Het
Klhl14	C	T	18: 21,784,900 (GRCm39)	V176I	probably benign	Het
Klrb1	A	T	6: 128,689,252 (GRCm39)	V73E	probably damaging	Het
Krtap31-2	T	C	11: 99,827,501 (GRCm39)	L111P	possibly damaging	Het
Mbtd1	T	C	11: 93,799,725 (GRCm39)	S106P	probably damaging	Het
Nckap5l	T	C	15: 99,324,128 (GRCm39)	T792A	probably benign	Het
Ndufaf4	A	C	4: 24,901,847 (GRCm39)	T132P	probably damaging	Het
Neo1	A	G	9: 58,785,348 (GRCm39)	V1453A	probably benign	Het
Or5w13	T	C	2: 87,523,753 (GRCm39)	I158V	probably benign	Het
Pcdha11	T	A	18: 37,139,319 (GRCm39)	L316*	probably null	Het
Pcdha7	T	C	18: 37,109,285 (GRCm39)	M770T	possibly damaging	Het
Pcsk1	T	C	13: 75,258,984 (GRCm39)	S253P	probably damaging	Het
Phtf1	T	C	3: 103,876,435 (GRCm39)	Y12H	probably damaging	Het
Pkd1l2	T	C	8: 117,792,268 (GRCm39)	N508S	probably benign	Het
Pla1a	A	G	16: 38,235,208 (GRCm39)	I162T	possibly damaging	Het
Rb1	A	T	14: 73,502,048 (GRCm39)	L446M	probably damaging	Het
Retn	A	T	8: 3,706,079 (GRCm39)	S22C	probably damaging	Het
Snx25	A	G	8: 46,569,309 (GRCm39)	L196P	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spata31d1b	G	A	13: 59,864,726 (GRCm39)	D625N	probably benign	Het
Sycp2	T	C	2: 177,988,126 (GRCm39)	*1501W	probably null	Het
Tarbp1	T	G	8: 127,160,639 (GRCm39)	T1271P	possibly damaging	Het
Uba1y	T	C	Y: 821,567 (GRCm39)	F154L	probably benign	Het
Ubr1	T	A	2: 120,705,925 (GRCm39)	I1513F	possibly damaging	Het
Vmn2r110	T	A	17: 20,804,524 (GRCm39)	Q132L	probably benign	Het
Vwf	A	T	6: 125,644,506 (GRCm39)	T2454S		Het
Wdr33	C	A	18: 32,029,823 (GRCm39)	F1007L	unknown	Het
Zfp398	A	G	6: 47,836,407 (GRCm39)	H201R	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
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
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'- TCACACTGTTGGATTCCCAC -3'
(R):5'- CAGAGTCACATGTGAAGTGGTC -3'

Sequencing Primer
(F):5'- GTTGGATTCCCACCTGAAGAC -3'
(R):5'- GTGTTGGAGTCACAGAAATCTAGATC -3'

Posted On

2019-10-17