Mutagenetix > Incidental Mutation

Incidental Mutation 'R2279:Or6c1b'

242984

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

040278-MU

Accession Numbers

Essential gene?

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

Stock #

R2279 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129272683-129273621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129273526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 282 (M282L)

Ref Sequence

ENSEMBL: ENSMUSP00000145099 (fasta)

Gene Model

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

AlphaFold

Q8VFH8

Predicted Effect

probably benign
Transcript: ENSMUST00000076508
AA Change: M282L

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000075827
Gene: ENSMUSG00000095696
AA Change: M282L

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 benign
Transcript: ENSMUST00000204529
AA Change: M282L

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000145099
Gene: ENSMUSG00000095696
AA Change: M282L

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	G	T	5: 90,412,576 (GRCm39)	N1249K	probably damaging	Het
Anks1b	T	C	10: 89,885,958 (GRCm39)	M218T	probably damaging	Het
Arfgef2	G	C	2: 166,707,679 (GRCm39)	G1025A	probably benign	Het
Arhgap21	T	C	2: 20,868,037 (GRCm39)	I829V	possibly damaging	Het
Arhgap42	T	C	9: 9,035,512 (GRCm39)	M277V	probably benign	Het
Cabin1	T	C	10: 75,589,295 (GRCm39)	I87M	probably benign	Het
Cdc42bpa	A	G	1: 179,864,484 (GRCm39)	N149D	probably damaging	Het
Cdh20	C	A	1: 104,875,139 (GRCm39)	A307E	probably damaging	Het
Cdk18	A	T	1: 132,043,690 (GRCm39)	Y385N	probably damaging	Het
Cfap410	T	C	10: 77,817,476 (GRCm39)	Y68H	probably damaging	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cptp	A	G	4: 155,950,878 (GRCm39)	I196T	probably damaging	Het
Cyp4b1	T	A	4: 115,497,557 (GRCm39)	Y147F	probably benign	Het
Dbf4	T	C	5: 8,471,333 (GRCm39)	N36S	possibly damaging	Het
Dbr1	G	T	9: 99,462,200 (GRCm39)	Q166H	probably benign	Het
Ddx42	T	A	11: 106,133,765 (GRCm39)	D580E	probably damaging	Het
Dnah17	T	C	11: 117,987,387 (GRCm39)	K1308E	possibly damaging	Het
Dpep1	A	T	8: 123,920,883 (GRCm39)	D21V	probably benign	Het
Dspp	G	A	5: 104,326,250 (GRCm39)	S871N	unknown	Het
En1	T	A	1: 120,534,916 (GRCm39)	*402K	probably null	Het
Eogt	G	T	6: 97,111,262 (GRCm39)	R200S	probably benign	Het
Epb41l3	A	G	17: 69,577,645 (GRCm39)	T542A	possibly damaging	Het
Fam50b	C	T	13: 34,930,823 (GRCm39)	Q100*	probably null	Het
Gask1a	T	C	9: 121,794,668 (GRCm39)	I274T	probably benign	Het
Gh	T	C	11: 106,191,613 (GRCm39)	E143G	probably damaging	Het
Hcn3	C	A	3: 89,055,168 (GRCm39)	R693L	probably benign	Het
Htra1	A	T	7: 130,563,752 (GRCm39)	I208F	probably damaging	Het
Ifna13	T	A	4: 88,562,156 (GRCm39)	E156V	probably benign	Het
Ints6	A	G	14: 62,942,131 (GRCm39)		probably null	Het
Kifc5b	A	G	17: 27,144,515 (GRCm39)	I545V	probably damaging	Het
Lrrc4c	C	T	2: 97,460,850 (GRCm39)	S492F	possibly damaging	Het
Madd	A	T	2: 90,974,028 (GRCm39)	C1419S	possibly damaging	Het
Map2k6	T	C	11: 110,390,290 (GRCm39)	S275P	probably damaging	Het
Mpp2	T	C	11: 101,955,127 (GRCm39)	E166G	probably damaging	Het
Mrpl48	G	A	7: 100,214,471 (GRCm39)	T48I	probably damaging	Het
Neu1	A	G	17: 35,153,350 (GRCm39)	D291G	probably damaging	Het
Nktr	A	G	9: 121,560,603 (GRCm39)	K116E	possibly damaging	Het
Npc1	T	C	18: 12,330,236 (GRCm39)		probably null	Het
Or6b9	A	T	7: 106,555,834 (GRCm39)	M103K	probably benign	Het
Or8k1	T	C	2: 86,047,148 (GRCm39)	E302G	probably benign	Het
Pclo	T	A	5: 14,764,287 (GRCm39)	D4253E	unknown	Het
Phactr1	A	T	13: 43,231,265 (GRCm39)	S244C	possibly damaging	Het
Prex1	A	T	2: 166,419,875 (GRCm39)	I79N	probably benign	Het
Rhebl1	A	T	15: 98,776,167 (GRCm39)	D162E	probably benign	Het
Rnf32	G	T	5: 29,430,278 (GRCm39)	V366F	probably benign	Het
Rpn2	A	G	2: 157,152,208 (GRCm39)	T394A	possibly damaging	Het
Ryr3	A	T	2: 112,479,664 (GRCm39)	M4386K	possibly damaging	Het
Sirt7	T	C	11: 120,515,321 (GRCm39)	S112G	probably damaging	Het
Slc1a6	A	T	10: 78,624,882 (GRCm39)	M96L	probably benign	Het
Slc25a29	T	C	12: 108,792,852 (GRCm39)	E242G	probably benign	Het
Slc30a2	G	T	4: 134,075,857 (GRCm39)	Q210H	probably benign	Het
Sorcs2	A	T	5: 36,199,430 (GRCm39)		probably null	Het
Spink5	A	G	18: 44,119,396 (GRCm39)	N236D	probably benign	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Sytl3	A	G	17: 6,976,273 (GRCm39)		probably benign	Het
Tasor	A	C	14: 27,164,452 (GRCm39)	K253Q	probably damaging	Het
Tgm7	A	G	2: 120,929,045 (GRCm39)	S284P	probably damaging	Het
Tmem45a	A	T	16: 56,643,882 (GRCm39)	L89Q	probably damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het
Txlna	T	C	4: 129,525,935 (GRCm39)	E304G	probably damaging	Het
Zfp709	T	C	8: 72,642,934 (GRCm39)	V121A	probably benign	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
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
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'- AAGATTCCTTCTGCCAGTCAG -3'
(R):5'- TGTTCTATCAGAAAGGCCTAAGAAG -3'

Sequencing Primer
(F):5'- AGAGGTCAAAGGCCTTTTCC -3'
(R):5'- GCCTAAGAAGATAATAGTTGGGTAAG -3'

Posted On

2014-10-16