Mutagenetix > Incidental Mutation

Incidental Mutation 'R0082:Or6c1b'

60629

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

038369-MU

Accession Numbers

Essential gene?

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

Stock #

R0082 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129272683-129273621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129273140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 153 (I153T)

Ref Sequence

ENSEMBL: ENSMUSP00000145099 (fasta)

Gene Model

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

AlphaFold

Q8VFH8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076508
AA Change: I153T

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075827
Gene: ENSMUSG00000095696
AA Change: I153T

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

possibly damaging
Transcript: ENSMUST00000204529
AA Change: I153T

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145099
Gene: ENSMUSG00000095696
AA Change: I153T

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

0.0962

Coding Region Coverage

1x: 98.9%
3x: 97.3%
10x: 91.7%
20x: 73.7%

Validation Efficiency

94% (136/144)

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
Adam17	A	C	12: 21,379,049 (GRCm39)		probably benign	Het
Adcy1	T	C	11: 7,099,497 (GRCm39)		probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Ankrd33b	T	C	15: 31,297,935 (GRCm39)	N274S	probably benign	Het
Antkmt	T	C	17: 26,010,548 (GRCm39)	I89V	probably benign	Het
Arhgef1	C	T	7: 24,612,030 (GRCm39)	Q100*	probably null	Het
Ccdc180	A	G	4: 45,896,205 (GRCm39)	D118G	probably null	Het
Cdh23	T	C	10: 60,148,366 (GRCm39)	D2667G	probably damaging	Het
Cdh4	A	T	2: 179,535,981 (GRCm39)	N844I	possibly damaging	Het
Cep57	T	C	9: 13,722,172 (GRCm39)		probably benign	Het
Dnah7a	A	T	1: 53,557,867 (GRCm39)	D2182E	probably damaging	Het
Dync1h1	A	G	12: 110,602,880 (GRCm39)	T2174A	probably benign	Het
Eef1akmt2	T	A	7: 132,453,201 (GRCm39)	R44*	probably null	Het
Evpl	T	A	11: 116,125,829 (GRCm39)	I43F	probably damaging	Het
F13a1	G	T	13: 37,172,927 (GRCm39)	P151Q	probably damaging	Het
Galnt5	A	T	2: 57,889,047 (GRCm39)	I216F	possibly damaging	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gpr139	T	A	7: 118,744,268 (GRCm39)	T106S	probably benign	Het
Hoatz	T	C	9: 51,013,102 (GRCm39)	T57A	probably benign	Het
Hoxb3	A	G	11: 96,235,097 (GRCm39)	D8G	probably damaging	Het
Hpse	T	C	5: 100,840,128 (GRCm39)	K330E	possibly damaging	Het
Kcmf1	G	T	6: 72,827,470 (GRCm39)		probably null	Het
Klra2	T	C	6: 131,197,210 (GRCm39)	N263S	possibly damaging	Het
Klra8	T	C	6: 130,102,018 (GRCm39)	D139G	probably benign	Het
Lrrc46	A	C	11: 96,931,903 (GRCm39)		probably benign	Het
Ly86	A	T	13: 37,602,513 (GRCm39)		probably null	Het
Mmp20	C	T	9: 7,642,808 (GRCm39)	T214M	probably benign	Het
Or4k5	A	T	14: 50,385,512 (GRCm39)	I273K	probably damaging	Het
Or52s1b	G	T	7: 102,822,409 (GRCm39)	A145E	probably benign	Het
Or6c209	G	A	10: 129,483,522 (GRCm39)	C175Y	probably benign	Het
Pigg	A	G	5: 108,460,751 (GRCm39)		probably benign	Het
Polq	C	A	16: 36,837,619 (GRCm39)	T177K	probably benign	Het
Pomgnt2	A	T	9: 121,811,326 (GRCm39)	V485E	probably damaging	Het
Ppip5k2	A	T	1: 97,687,057 (GRCm39)	C49*	probably null	Het
Prkrip1	T	C	5: 136,226,682 (GRCm39)	N53D	possibly damaging	Het
Prrc2b	T	C	2: 32,102,310 (GRCm39)		probably benign	Het
Qprt	T	C	7: 126,707,358 (GRCm39)	E246G	probably damaging	Het
Rpl9	A	G	5: 65,545,995 (GRCm39)	V167A	probably benign	Het
Rskr	T	C	11: 78,184,384 (GRCm39)	S244P	probably damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,436,702 (GRCm39)	I43V	probably benign	Het
Slc38a7	A	G	8: 96,567,109 (GRCm39)		probably benign	Het
Slc8b1	A	G	5: 120,662,265 (GRCm39)		probably benign	Het
Sp2	T	C	11: 96,852,525 (GRCm39)	Y133C	probably damaging	Het
Spdye4b	A	T	5: 143,181,430 (GRCm39)	D95V	probably damaging	Het
Srek1	T	C	13: 103,880,194 (GRCm39)	T455A	unknown	Het
Stox2	A	T	8: 47,656,317 (GRCm39)		probably benign	Het
Synrg	T	A	11: 83,878,736 (GRCm39)		probably benign	Het
Tie1	T	A	4: 118,341,550 (GRCm39)	E254V	probably damaging	Het
Tmem97	G	T	11: 78,433,414 (GRCm39)	F160L	probably damaging	Het
Utp6	A	T	11: 79,844,457 (GRCm39)	H189Q	possibly damaging	Het
Vip	T	A	10: 5,594,953 (GRCm39)	*172R	probably null	Het
Wdr91	T	C	6: 34,883,620 (GRCm39)	R132G	possibly damaging	Het
Wipi1	T	C	11: 109,469,110 (GRCm39)		probably benign	Het
Zfp445	A	G	9: 122,681,421 (GRCm39)	V840A	probably 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
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
R2023:Or6c1b	UTSW	10	129,273,451 (GRCm39)	missense	probably damaging	0.99
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'- TGACCCAAAGCTCCAGGTTGTG -3'
(R):5'- TGACCTCTGACTGGCAGAAGGAATC -3'

Sequencing Primer
(F):5'- ATACCAAGGTTCTTGGGCAC -3'
(R):5'- TGACTGGCAGAAGGAATCTTCAC -3'

Posted On

2013-07-24