Mutagenetix > Incidental Mutation

Incidental Mutation 'R2023:Or6c1b'

220146

Institutional Source

Beutler Lab

Gene Symbol

Or6c1b

Ensembl Gene

ENSMUSG00000095696

Gene Name

olfactory receptor family 6 subfamily C member 1B

Synonyms

MOR111-5, Olfr786, GA_x6K02T2PULF-11116958-11117896

MMRRC Submission

040032-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R2023 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129272683-129273621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129273451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 257 (Y257N)

Ref Sequence

ENSEMBL: ENSMUSP00000145099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076508] [ENSMUST00000204529]

AlphaFold

Q8VFH8

Predicted Effect

probably damaging
Transcript: ENSMUST00000076508
AA Change: Y257N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075827
Gene: ENSMUSG00000095696
AA Change: Y257N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	1.9e-53	PFAM
Pfam:7tm_1	39	288	7.3e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204529
AA Change: Y257N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145099
Gene: ENSMUSG00000095696
AA Change: Y257N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	1.9e-53	PFAM
Pfam:7tm_1	39	288	7.3e-20	PFAM

Meta Mutation Damage Score

0.4101

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 92.4%

Validation Efficiency

97% (60/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,839,247 (GRCm39)	S447P	possibly damaging	Het
9930111J21Rik2	A	G	11: 48,911,144 (GRCm39)	F430L	probably benign	Het
Acap2	A	G	16: 30,938,233 (GRCm39)	V297A	probably damaging	Het
Adam3	G	A	8: 25,179,479 (GRCm39)	R613C	possibly damaging	Het
Akt1	C	T	12: 112,626,071 (GRCm39)	R67Q	probably benign	Het
Ambp	T	C	4: 63,069,702 (GRCm39)	Y108C	probably damaging	Het
Apob	A	G	12: 8,061,090 (GRCm39)	I3158V	probably benign	Het
Bank1	T	C	3: 136,031,679 (GRCm39)	T8A	probably benign	Het
Casp8ap2	T	C	4: 32,644,560 (GRCm39)	V1211A	probably benign	Het
Ccdc88a	G	T	11: 29,413,546 (GRCm39)	E695*	probably null	Het
Cep68	A	C	11: 20,189,888 (GRCm39)	S375A	probably benign	Het
Cfap44	A	G	16: 44,236,375 (GRCm39)	I417V	probably benign	Het
Chrna2	T	A	14: 66,379,677 (GRCm39)	H5Q	probably benign	Het
Cog7	A	T	7: 121,536,193 (GRCm39)	I549K	probably damaging	Het
Col28a1	C	A	6: 8,083,783 (GRCm39)	S558I	possibly damaging	Het
Cyp4f14	A	G	17: 33,125,505 (GRCm39)	I385T	probably damaging	Het
Dynlt4	A	G	4: 116,985,504 (GRCm39)	E109G	possibly damaging	Het
Erap1	T	A	13: 74,814,627 (GRCm39)	V451E	probably benign	Het
Frem1	G	T	4: 82,831,795 (GRCm39)	T1988K	probably benign	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm5616	A	G	9: 48,361,928 (GRCm39)		noncoding transcript	Het
Gm5709	T	C	3: 59,543,142 (GRCm39)		noncoding transcript	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hsd11b1	T	C	1: 192,922,686 (GRCm39)	T124A	probably benign	Het
Itpr3	T	A	17: 27,321,785 (GRCm39)	M1054K	possibly damaging	Het
Kars1	T	C	8: 112,728,484 (GRCm39)	N200S	probably benign	Het
Kdm2a	C	A	19: 4,372,492 (GRCm39)	R951L	probably damaging	Het
Ldhd	T	A	8: 112,356,578 (GRCm39)	H61L	probably damaging	Het
Macf1	G	T	4: 123,366,523 (GRCm39)	A2746E	probably damaging	Het
Micall2	A	G	5: 139,703,266 (GRCm39)	V190A	possibly damaging	Het
Mis18bp1	A	T	12: 65,195,883 (GRCm39)	V627E	probably damaging	Het
Muc4	A	T	16: 32,574,054 (GRCm39)	T711S	probably benign	Het
Notch4	T	C	17: 34,806,502 (GRCm39)	L1813P	probably damaging	Het
Nox3	A	G	17: 3,744,296 (GRCm39)		probably benign	Het
Or4b1d	G	T	2: 89,969,200 (GRCm39)	C94*	probably null	Het
Or5p63	A	G	7: 107,811,049 (GRCm39)	L229P	probably damaging	Het
Osbpl2	C	A	2: 179,791,969 (GRCm39)		probably null	Het
Pamr1	T	A	2: 102,464,880 (GRCm39)	M343K	probably benign	Het
Pcdh15	T	G	10: 74,467,025 (GRCm39)	S1684A	possibly damaging	Het
Pgr	T	A	9: 8,958,399 (GRCm39)	V802D	probably damaging	Het
Pgs1	A	G	11: 117,893,228 (GRCm39)	E55G	probably benign	Het
Pkd2	T	A	5: 104,614,744 (GRCm39)		probably null	Het
Ppp3r2	T	C	4: 49,681,723 (GRCm39)	I76V	probably benign	Het
Ptprd	C	T	4: 75,875,341 (GRCm39)	E1240K	probably damaging	Het
Recql5	G	A	11: 115,784,466 (GRCm39)	T878I	probably benign	Het
Rnf17	A	G	14: 56,669,036 (GRCm39)	D233G	possibly damaging	Het
Sectm1a	A	G	11: 120,960,408 (GRCm39)		probably benign	Het
Smo	A	G	6: 29,754,715 (GRCm39)	N262D	possibly damaging	Het
Srcin1	A	G	11: 97,416,872 (GRCm39)	S931P	probably benign	Het
Tcof1	C	T	18: 60,966,605 (GRCm39)	G329R	probably damaging	Het
Thsd7a	G	A	6: 12,327,535 (GRCm39)	H1446Y	probably benign	Het
Tlr11	A	G	14: 50,600,026 (GRCm39)	T671A	probably damaging	Het
Tmem171	C	A	13: 98,828,733 (GRCm39)	W139L	probably damaging	Het
Vmn2r101	C	T	17: 19,810,368 (GRCm39)	R385*	probably null	Het
Vps13c	A	T	9: 67,843,567 (GRCm39)		probably benign	Het
Wdr87-ps	G	T	7: 29,230,959 (GRCm39)		noncoding transcript	Het
Zfp287	A	C	11: 62,605,808 (GRCm39)	Y366*	probably null	Het
Zfp456	A	T	13: 67,514,616 (GRCm39)	C363*	probably null	Het
Zfp523	A	G	17: 28,419,978 (GRCm39)		probably benign	Het
Zfp667	A	C	7: 6,308,416 (GRCm39)	K361N	possibly damaging	Het

Other mutations in Or6c1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02295:Or6c1b	APN	10	129,272,903 (GRCm39)	missense	possibly damaging	0.95
IGL03027:Or6c1b	APN	10	129,272,780 (GRCm39)	missense	probably damaging	1.00
IGL03177:Or6c1b	APN	10	129,272,684 (GRCm39)	start codon destroyed	probably null	0.82
IGL03216:Or6c1b	APN	10	129,272,806 (GRCm39)	missense	probably damaging	0.98
IGL03265:Or6c1b	APN	10	129,272,794 (GRCm39)	missense	possibly damaging	0.83
R0080:Or6c1b	UTSW	10	129,273,140 (GRCm39)	missense	possibly damaging	0.85
R0082:Or6c1b	UTSW	10	129,273,140 (GRCm39)	missense	possibly damaging	0.85
R0242:Or6c1b	UTSW	10	129,273,217 (GRCm39)	missense	probably damaging	1.00
R0242:Or6c1b	UTSW	10	129,273,217 (GRCm39)	missense	probably damaging	1.00
R0507:Or6c1b	UTSW	10	129,273,157 (GRCm39)	missense	probably benign	0.00
R1432:Or6c1b	UTSW	10	129,272,807 (GRCm39)	missense	probably damaging	1.00
R1563:Or6c1b	UTSW	10	129,273,580 (GRCm39)	missense	probably benign
R2142:Or6c1b	UTSW	10	129,273,616 (GRCm39)	missense	probably benign	0.14
R2279:Or6c1b	UTSW	10	129,273,526 (GRCm39)	missense	probably benign	0.07
R3412:Or6c1b	UTSW	10	129,273,176 (GRCm39)	missense	probably damaging	0.99
R4467:Or6c1b	UTSW	10	129,272,933 (GRCm39)	missense	probably benign	0.04
R4529:Or6c1b	UTSW	10	129,273,287 (GRCm39)	missense	probably benign	0.03
R4843:Or6c1b	UTSW	10	129,273,316 (GRCm39)	missense	probably benign	0.01
R4888:Or6c1b	UTSW	10	129,273,248 (GRCm39)	missense	possibly damaging	0.95
R4890:Or6c1b	UTSW	10	129,272,948 (GRCm39)	missense	probably benign	0.08
R6255:Or6c1b	UTSW	10	129,273,557 (GRCm39)	missense	possibly damaging	0.95
R6362:Or6c1b	UTSW	10	129,272,812 (GRCm39)	missense	probably damaging	1.00
R6705:Or6c1b	UTSW	10	129,272,941 (GRCm39)	missense	probably benign	0.00
R7270:Or6c1b	UTSW	10	129,273,319 (GRCm39)	missense	probably benign
R7450:Or6c1b	UTSW	10	129,273,298 (GRCm39)	missense	probably benign	0.00
R7803:Or6c1b	UTSW	10	129,272,800 (GRCm39)	missense	probably damaging	1.00
R7856:Or6c1b	UTSW	10	129,272,885 (GRCm39)	missense	probably damaging	1.00
R8725:Or6c1b	UTSW	10	129,273,334 (GRCm39)	missense	probably benign	0.02
R8727:Or6c1b	UTSW	10	129,273,334 (GRCm39)	missense	probably benign	0.02
R8838:Or6c1b	UTSW	10	129,273,065 (GRCm39)	missense	probably damaging	1.00
R9180:Or6c1b	UTSW	10	129,272,858 (GRCm39)	missense	probably damaging	0.99
R9663:Or6c1b	UTSW	10	129,272,929 (GRCm39)	missense	probably damaging	0.97
R9688:Or6c1b	UTSW	10	129,272,967 (GRCm39)	nonsense	probably null
X0052:Or6c1b	UTSW	10	129,273,368 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTTCAGACACAAAGTTCCTGG -3'
(R):5'- TGACACAACTGCGCCACTG -3'

Sequencing Primer
(F):5'- TTCAGACACAAAGTTCCTGGAGAAG -3'
(R):5'- GTTCATAAACGCTTGCCG -3'

Posted On

2014-08-25