Mutagenetix > Incidental Mutation

Incidental Mutation 'R5253:Or6c3b'

399245

Institutional Source

Beutler Lab

Gene Symbol

Or6c3b

Ensembl Gene

ENSMUSG00000046041

Gene Name

olfactory receptor family 6 subfamily C member 3B

Synonyms

GA_x6K02T2PULF-11370664-11369738, MOR111-3, Olfr803

MMRRC Submission

042824-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5253 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129526982-129527908 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129527601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 103 (I103T)

Ref Sequence

ENSEMBL: ENSMUSP00000145400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056736] [ENSMUST00000203785] [ENSMUST00000204641] [ENSMUST00000217576]

AlphaFold

Q8VFI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000056736
AA Change: I103T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055860
Gene: ENSMUSG00000046041
AA Change: I103T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	6.2e-51	PFAM
Pfam:7TM_GPCR_Srsx	33	303	3.8e-6	PFAM
Pfam:7tm_1	39	288	3.2e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157522

Predicted Effect

probably benign
Transcript: ENSMUST00000203785

SMART Domains

Protein: ENSMUSP00000144741
Gene: ENSMUSG00000093866

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	6.8e-56	PFAM
Pfam:7tm_1	39	288	2.5e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204641
AA Change: I103T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145400
Gene: ENSMUSG00000046041
AA Change: I103T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	2.9e-49	PFAM
Pfam:7tm_1	39	288	8.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217576

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	T	C	9: 39,962,746 (GRCm39)		noncoding transcript	Het
Actrt2	A	C	4: 154,752,026 (GRCm39)	S37A	possibly damaging	Het
Adcy7	T	C	8: 89,040,742 (GRCm39)	I327T	probably damaging	Het
Ankrd13b	A	G	11: 77,364,061 (GRCm39)		probably benign	Het
Arap1	A	C	7: 101,037,851 (GRCm39)	I237L	probably benign	Het
Arhgap17	A	T	7: 122,902,971 (GRCm39)	Y359N	probably benign	Het
Atad1	A	G	19: 32,651,702 (GRCm39)	M343T	probably benign	Het
Cacna1b	A	T	2: 24,609,964 (GRCm39)	I392N	probably damaging	Het
Cacna1c	A	G	6: 118,574,930 (GRCm39)	S1914P	probably benign	Het
Cd300a	G	T	11: 114,785,577 (GRCm39)	R174L	probably benign	Het
Dip2a	G	A	10: 76,135,831 (GRCm39)	P356L	probably damaging	Het
Dsg1c	T	C	18: 20,405,436 (GRCm39)	L283P	probably damaging	Het
Dusp1	T	C	17: 26,727,191 (GRCm39)	N36S	probably benign	Het
Dync2i2	T	A	2: 29,922,375 (GRCm39)		probably benign	Het
Ercc3	C	A	18: 32,402,917 (GRCm39)	P776Q	probably damaging	Het
Etv1	A	G	12: 38,902,248 (GRCm39)	R260G	possibly damaging	Het
Fa2h	C	G	8: 112,075,869 (GRCm39)	M251I	probably benign	Het
Fcsk	T	C	8: 111,610,499 (GRCm39)	E968G	possibly damaging	Het
Flg2	A	G	3: 93,108,119 (GRCm39)	D49G	probably damaging	Het
Fras1	A	G	5: 96,888,884 (GRCm39)	E2810G	probably damaging	Het
Gabbr1	T	C	17: 37,366,805 (GRCm39)	F343S	possibly damaging	Het
Gdf2	A	G	14: 33,667,264 (GRCm39)	T329A	probably benign	Het
Hcn4	T	A	9: 58,731,558 (GRCm39)	I255N	unknown	Het
Hk3	T	G	13: 55,158,824 (GRCm39)	D485A	probably damaging	Het
Hook3	T	C	8: 26,562,319 (GRCm39)	T249A	probably benign	Het
Kcp	C	T	6: 29,498,519 (GRCm39)		probably benign	Het
Kifc2	G	T	15: 76,550,481 (GRCm39)	R515L	possibly damaging	Het
Kiss1r	A	G	10: 79,756,584 (GRCm39)	Y142C	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Klrb1a	T	A	6: 128,596,126 (GRCm39)	I72L	probably benign	Het
Lep	T	A	6: 29,070,862 (GRCm39)	F62Y	probably damaging	Het
Lrtm1	A	G	14: 28,743,801 (GRCm39)	T90A	probably benign	Het
Mug1	A	T	6: 121,865,872 (GRCm39)	D1472V	probably benign	Het
Ncor2	G	T	5: 125,103,994 (GRCm39)	P1988Q	probably benign	Het
Nlrp4a	C	T	7: 26,149,917 (GRCm39)	S508L	probably benign	Het
Obp2b	T	A	2: 25,627,155 (GRCm39)	D29E	probably benign	Het
Or10ag2	G	A	2: 87,249,012 (GRCm39)	V207M	possibly damaging	Het
Or4c109	A	G	2: 88,818,444 (GRCm39)	L34P	possibly damaging	Het
Or4c119	A	T	2: 88,986,801 (GRCm39)	C239*	probably null	Het
Or4k15b	T	C	14: 50,272,745 (GRCm39)	I38M	possibly damaging	Het
Otof	A	G	5: 30,527,483 (GRCm39)	S1985P	probably damaging	Het
Oxct2a	A	T	4: 123,216,886 (GRCm39)	V165E	probably damaging	Het
Pcdhgb7	T	C	18: 37,886,150 (GRCm39)	V440A	possibly damaging	Het
Pelp1	C	A	11: 70,292,487 (GRCm39)	G211C	probably damaging	Het
Phox2a	A	G	7: 101,471,312 (GRCm39)	H268R	probably benign	Het
Pik3c2g	T	C	6: 139,841,983 (GRCm39)		probably null	Het
Pramel1	T	A	4: 143,125,156 (GRCm39)	M360K	probably benign	Het
Rbm6	C	T	9: 107,729,856 (GRCm39)	R132K	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc45a1	T	C	4: 150,722,727 (GRCm39)	T386A	probably damaging	Het
Smad2	A	G	18: 76,421,124 (GRCm39)	Y151C	probably damaging	Het
Sptbn2	G	A	19: 4,800,110 (GRCm39)	G2188D	probably benign	Het
Sugt1	G	A	14: 79,840,341 (GRCm39)		probably null	Het
Tctn3	T	C	19: 40,595,685 (GRCm39)	S367G	probably benign	Het
Tead1	G	T	7: 112,460,752 (GRCm39)	D219Y	probably damaging	Het
Tenm2	G	T	11: 35,938,028 (GRCm39)	Y1548*	probably null	Het
Tenm3	T	A	8: 48,682,233 (GRCm39)	I2466F	possibly damaging	Het
Tent4b	C	A	8: 88,926,651 (GRCm39)	H20Q	possibly damaging	Het
Tgm2	G	A	2: 157,971,358 (GRCm39)	P294S	probably damaging	Het
Tns2	T	C	15: 102,019,888 (GRCm39)	S585P	probably damaging	Het
Ttc41	A	G	10: 86,566,806 (GRCm39)	K491E	probably benign	Het
Ttn	G	A	2: 76,621,895 (GRCm39)	T15549I	probably damaging	Het
Vmn1r157	T	C	7: 22,461,183 (GRCm39)	L21P	probably damaging	Het
Vmn2r81	A	G	10: 79,083,820 (GRCm39)	M65V	probably benign	Het
Zcchc14	T	C	8: 122,345,433 (GRCm39)		probably benign	Het

Other mutations in Or6c3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Or6c3b	APN	10	129,527,323 (GRCm39)	missense	probably benign	0.00
IGL01298:Or6c3b	APN	10	129,527,898 (GRCm39)	missense	probably damaging	0.98
IGL02008:Or6c3b	APN	10	129,527,887 (GRCm39)	missense	probably benign	0.02
IGL02166:Or6c3b	APN	10	129,527,782 (GRCm39)	missense	probably benign	0.12
IGL02598:Or6c3b	APN	10	129,527,142 (GRCm39)	missense	possibly damaging	0.89
IGL03158:Or6c3b	APN	10	129,527,587 (GRCm39)	missense	probably benign	0.01
IGL03393:Or6c3b	APN	10	129,527,147 (GRCm39)	missense	probably damaging	0.99
R2246:Or6c3b	UTSW	10	129,527,812 (GRCm39)	missense	probably damaging	1.00
R3749:Or6c3b	UTSW	10	129,527,830 (GRCm39)	missense	probably benign
R5060:Or6c3b	UTSW	10	129,527,699 (GRCm39)	missense	probably benign
R5116:Or6c3b	UTSW	10	129,527,266 (GRCm39)	missense	probably damaging	1.00
R6166:Or6c3b	UTSW	10	129,527,148 (GRCm39)	missense	probably damaging	1.00
R6543:Or6c3b	UTSW	10	129,527,859 (GRCm39)	missense	probably benign	0.09
R6787:Or6c3b	UTSW	10	129,527,391 (GRCm39)	missense	possibly damaging	0.88
R6828:Or6c3b	UTSW	10	129,527,863 (GRCm39)	missense	probably damaging	1.00
R7284:Or6c3b	UTSW	10	129,527,220 (GRCm39)	missense	probably benign
R7510:Or6c3b	UTSW	10	129,527,789 (GRCm39)	missense	probably damaging	1.00
R8488:Or6c3b	UTSW	10	129,527,343 (GRCm39)	missense	probably damaging	1.00
R8887:Or6c3b	UTSW	10	129,527,372 (GRCm39)	nonsense	probably null
R9257:Or6c3b	UTSW	10	129,527,003 (GRCm39)	missense	probably benign	0.01
R9323:Or6c3b	UTSW	10	129,527,829 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- ACTTTAGGACCAGCATAAGTGG -3'
(R):5'- CAGGCAACAGAGAGCTTCAG -3'

Sequencing Primer
(F):5'- GTGGGAAGATGGTCAGGAATCC -3'
(R):5'- CAGAGAGCTTCAGGTAGTAATTTTCG -3'

Posted On

2016-07-06