Mutagenetix > Incidental Mutation

Incidental Mutation 'R7284:Or6c3b'

565879

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

045392-MU

Accession Numbers

Essential gene?

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

Stock #

R7284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129526982-129527908 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129527220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 230 (N230S)

Ref Sequence

ENSEMBL: ENSMUSP00000145400 (fasta)

Gene Model

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

AlphaFold

Q8VFI3

Predicted Effect

probably benign
Transcript: ENSMUST00000056736
AA Change: N230S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055860
Gene: ENSMUSG00000046041
AA Change: N230S

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

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 benign
Transcript: ENSMUST00000204641
AA Change: N230S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145400
Gene: ENSMUSG00000046041
AA Change: N230S

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	G	T	7: 12,246,605 (GRCm39)	E34*	probably null	Het
4933421I07Rik	C	T	7: 42,097,404 (GRCm39)	R30H	probably damaging	Het
AB124611	C	A	9: 21,450,400 (GRCm39)	Q158K	probably benign	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abcc9	A	T	6: 142,628,643 (GRCm39)	L367Q	probably damaging	Het
Aftph	T	C	11: 20,676,812 (GRCm39)	K266E	probably benign	Het
Akap9	T	A	5: 4,006,246 (GRCm39)	D190E	probably damaging	Het
Angel1	G	T	12: 86,767,298 (GRCm39)	D359E	probably damaging	Het
Ano6	T	C	15: 95,846,184 (GRCm39)	I474T	probably damaging	Het
Atp2c1	A	T	9: 105,398,008 (GRCm39)		probably null	Het
Best1	T	C	19: 9,963,737 (GRCm39)		probably null	Het
Bhlha9	A	G	11: 76,563,492 (GRCm39)	S40G	probably benign	Het
Cabin1	G	A	10: 75,530,668 (GRCm39)	R178C		Het
Ccnb1ip1	A	G	14: 51,029,736 (GRCm39)	Y109H	probably damaging	Het
Col14a1	T	C	15: 55,381,715 (GRCm39)	S1763P	probably damaging	Het
Dars1	T	C	1: 128,300,004 (GRCm39)	T327A	probably benign	Het
Dhx8	T	C	11: 101,645,648 (GRCm39)	Y889H	probably damaging	Het
Dlg4	T	A	11: 69,932,908 (GRCm39)	Y523*	probably null	Het
Dnah10	A	T	5: 124,909,662 (GRCm39)	D4484V	probably benign	Het
Dnah9	A	T	11: 65,881,302 (GRCm39)	M2591K	probably damaging	Het
Dock2	T	C	11: 34,180,672 (GRCm39)	E1715G	probably benign	Het
Dym	A	G	18: 75,252,242 (GRCm39)	Y336C	possibly damaging	Het
Ezh2	A	G	6: 47,521,453 (GRCm39)	M439T	probably benign	Het
Folr1	T	G	7: 101,508,677 (GRCm39)	N83H	possibly damaging	Het
Ganab	T	C	19: 8,889,904 (GRCm39)	L656P	probably damaging	Het
Gmnc	T	C	16: 26,779,542 (GRCm39)	H161R	probably benign	Het
Gria4	A	G	9: 4,472,017 (GRCm39)	Y491H	probably damaging	Het
Heatr3	T	A	8: 88,883,402 (GRCm39)	C412S	possibly damaging	Het
Hmgcr	A	C	13: 96,789,173 (GRCm39)	V716G	probably damaging	Het
Igsf9	A	G	1: 172,324,479 (GRCm39)	D799G	probably damaging	Het
Ikbkb	T	C	8: 23,158,976 (GRCm39)	T501A	probably benign	Het
Kbtbd3	C	T	9: 4,330,690 (GRCm39)	R355*	probably null	Het
Kcna7	T	A	7: 45,058,652 (GRCm39)	I313N	probably damaging	Het
Kirrel1	A	C	3: 86,990,694 (GRCm39)	D709E	probably benign	Het
Klb	T	A	5: 65,540,821 (GRCm39)	S971R	probably benign	Het
Krtap4-13	A	T	11: 99,700,238 (GRCm39)	C140*	probably null	Het
Lacc1	A	T	14: 77,268,309 (GRCm39)	L334Q	probably damaging	Het
Map6d1	T	A	16: 20,059,775 (GRCm39)	R97*	probably null	Het
Mgat5b	T	C	11: 116,835,746 (GRCm39)	S129P	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Myh9	G	A	15: 77,671,796 (GRCm39)	R432C	probably damaging	Het
Ncf4	A	G	15: 78,144,902 (GRCm39)	T236A	probably benign	Het
Neb	T	C	2: 52,148,804 (GRCm39)	D2581G	probably damaging	Het
Nid1	T	A	13: 13,663,675 (GRCm39)	M778K	probably benign	Het
Npas2	A	G	1: 39,363,548 (GRCm39)	D209G	probably benign	Het
Nploc4	C	T	11: 120,307,196 (GRCm39)	V181I	possibly damaging	Het
Nrcam	A	T	12: 44,610,817 (GRCm39)	I506F	probably damaging	Het
Or52w1	T	A	7: 105,017,752 (GRCm39)	M73K	probably damaging	Het
Or5h27	A	G	16: 59,006,331 (GRCm39)	*172Q	probably null	Het
Pask	T	A	1: 93,248,391 (GRCm39)	Q970L	probably benign	Het
Pfkfb4	T	C	9: 108,840,308 (GRCm39)	I308T	possibly damaging	Het
Pla2g4d	A	T	2: 120,114,617 (GRCm39)	L38Q	probably damaging	Het
Pld1	A	G	3: 28,185,882 (GRCm39)	T1036A	possibly damaging	Het
Pom121l2	A	G	13: 22,166,775 (GRCm39)	T349A	probably damaging	Het
Ppp1r13b	A	G	12: 111,801,400 (GRCm39)	I551T	possibly damaging	Het
Prps1l1	A	G	12: 35,035,317 (GRCm39)	N144S	possibly damaging	Het
Prss56	A	G	1: 87,113,123 (GRCm39)	N179S	probably null	Het
Prune2	T	C	19: 17,097,250 (GRCm39)	L918P	probably damaging	Het
Ptprz1	C	T	6: 23,000,097 (GRCm39)	T729I	probably damaging	Het
Relch	T	A	1: 105,662,308 (GRCm39)	H942Q	probably benign	Het
Rrp7a	T	C	15: 83,006,071 (GRCm39)	T60A	probably damaging	Het
Snx27	A	G	3: 94,431,498 (GRCm39)	Y299H	probably damaging	Het
Spaca3	G	T	11: 80,754,847 (GRCm39)	R96L	possibly damaging	Het
Stat1	A	G	1: 52,188,081 (GRCm39)	N495S	probably benign	Het
Tas2r130	T	C	6: 131,607,270 (GRCm39)	N175S	probably benign	Het
Tcaf2	A	G	6: 42,606,472 (GRCm39)	L494P	probably damaging	Het
Tdrd12	C	A	7: 35,179,561 (GRCm39)		probably null	Het
Thbs1	A	G	2: 117,949,837 (GRCm39)	N604S	probably damaging	Het
Togaram1	T	C	12: 65,055,454 (GRCm39)	F1482L	probably benign	Het
Trhr2	A	T	8: 123,087,114 (GRCm39)	S109T	probably damaging	Het
Trpc3	A	T	3: 36,678,562 (GRCm39)	M841K	probably damaging	Het
Tubgcp5	C	T	7: 55,473,315 (GRCm39)	R798C	probably benign	Het
Xirp2	T	A	2: 67,347,173 (GRCm39)	M3138K	probably benign	Het
Zdhhc4	G	A	5: 143,307,646 (GRCm39)	T125I	probably benign	Het
Zfp239	T	A	6: 117,848,716 (GRCm39)	C151*	probably null	Het
Zfp473	C	T	7: 44,382,627 (GRCm39)	E569K	not run	Het
Zzef1	T	A	11: 72,777,516 (GRCm39)	D1782E	probably damaging	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
R5253:Or6c3b	UTSW	10	129,527,601 (GRCm39)	missense	probably damaging	0.99
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
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'- GTTTTACTTGCTGGTTCCTCAAAG -3'
(R):5'- ACCACTTATGCTGGTCCTAAAG -3'

Sequencing Primer
(F):5'- GCAACTGAAGTGCTGAGA -3'
(R):5'- AATGTCATTGATCACTTCTGCTGTG -3'

Posted On

2019-06-26