Mutagenetix > Incidental Mutation

Incidental Mutation 'R0048:Or13c3'

16125

Institutional Source

Beutler Lab

Gene Symbol

Or13c3

Ensembl Gene

ENSMUSG00000049648

Gene Name

olfactory receptor family 13 subfamily C member 3

Synonyms

Olfr273, GA_x6K02T2N78B-7137430-7138383, MOR262-8

MMRRC Submission

038342-MU

Accession Numbers

Essential gene?

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

Stock #

R0048 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

52855558-52856511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 52856196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 106 (A106S)

Ref Sequence

ENSEMBL: ENSMUSP00000103297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051520] [ENSMUST00000107670] [ENSMUST00000215274]

AlphaFold

Q8VG87

Predicted Effect

probably damaging
Transcript: ENSMUST00000051520
AA Change: A106S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052080
Gene: ENSMUSG00000049648
AA Change: A106S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	314	1.3e-55	PFAM
Pfam:7tm_1	41	296	1.4e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107670
AA Change: A106S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103297
Gene: ENSMUSG00000049648
AA Change: A106S

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	296	3.2e-37	PFAM
Pfam:7tm_4	139	289	4e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215274
AA Change: A106S

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.2687

Coding Region Coverage

1x: 90.1%
3x: 87.7%
10x: 82.5%
20x: 75.5%

Validation Efficiency

94% (92/98)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,140,563 (GRCm39)	I299T	probably benign	Het
Ankrd12	A	G	17: 66,291,798 (GRCm39)	S1212P	probably damaging	Het
Ankrd50	A	G	3: 38,537,198 (GRCm39)	S52P	probably benign	Het
Aox1	A	G	1: 58,112,371 (GRCm39)	E715G	probably damaging	Het
Arid1b	T	C	17: 5,364,309 (GRCm39)		probably null	Het
Brca1	A	G	11: 101,415,803 (GRCm39)	V777A	possibly damaging	Het
Btaf1	G	T	19: 36,980,924 (GRCm39)	A1582S	probably benign	Het
Cblif	G	A	19: 11,727,120 (GRCm39)	V110M	possibly damaging	Het
Ccdc184	G	A	15: 98,066,341 (GRCm39)	A49T	probably damaging	Het
Cd109	A	C	9: 78,587,303 (GRCm39)	Y657S	possibly damaging	Het
Cfap53	A	T	18: 74,432,244 (GRCm39)	Y44F	probably benign	Het
Cped1	T	A	6: 22,119,601 (GRCm39)	N353K	probably benign	Het
Dcaf10	T	G	4: 45,374,262 (GRCm39)	Y562*	probably null	Het
Eno4	T	C	19: 58,952,970 (GRCm39)	M328T	possibly damaging	Het
Etv3l	T	C	3: 87,462,275 (GRCm39)		noncoding transcript	Het
Eya2	T	A	2: 165,557,931 (GRCm39)	Y176N	probably damaging	Het
Fat2	G	T	11: 55,200,865 (GRCm39)	H736Q	probably benign	Het
Fgfr2	A	T	7: 129,782,218 (GRCm39)		probably benign	Het
Grhl1	A	T	12: 24,662,150 (GRCm39)		probably benign	Het
H60b	T	A	10: 22,163,130 (GRCm39)	M235K	probably benign	Het
Hal	T	A	10: 93,334,853 (GRCm39)	Y395N	probably damaging	Het
Hmcn2	T	C	2: 31,318,249 (GRCm39)	S3865P	possibly damaging	Het
Inpp5j	A	G	11: 3,451,417 (GRCm39)	V463A	probably damaging	Het
Iqgap3	A	T	3: 88,023,256 (GRCm39)	T516S	probably benign	Het
Itpr2	T	C	6: 146,133,789 (GRCm39)		probably null	Het
Jmjd4	C	A	11: 59,344,778 (GRCm39)	H244N	probably benign	Het
Klkb1	G	A	8: 45,742,233 (GRCm39)		probably benign	Het
Loxhd1	A	T	18: 77,496,474 (GRCm39)	Y1578F	probably damaging	Het
Lrp2	A	T	2: 69,295,971 (GRCm39)	D3379E	probably damaging	Het
Lrrfip1	C	T	1: 91,021,369 (GRCm39)		probably benign	Het
Mblac1	A	G	5: 138,192,727 (GRCm39)	Y23C	probably damaging	Het
Mfsd12	G	A	10: 81,198,648 (GRCm39)	V380I	possibly damaging	Het
Mroh9	G	A	1: 162,890,056 (GRCm39)	T227M	probably damaging	Het
Mtor	C	T	4: 148,623,338 (GRCm39)	Q2063*	probably null	Het
Ncstn	A	G	1: 171,897,528 (GRCm39)		probably benign	Het
Nek9	T	C	12: 85,348,673 (GRCm39)	T954A	probably benign	Het
Nlrc5	A	T	8: 95,201,284 (GRCm39)	Y126F	possibly damaging	Het
Nr1d1	A	G	11: 98,661,304 (GRCm39)	S321P	probably benign	Het
Pkn2	T	C	3: 142,516,588 (GRCm39)	I513V	probably damaging	Het
Pls1	T	C	9: 95,669,116 (GRCm39)	E35G	probably damaging	Het
Polr3a	A	G	14: 24,519,323 (GRCm39)		probably benign	Het
Ptgfr	A	G	3: 151,540,728 (GRCm39)	V260A	possibly damaging	Het
Rabgap1l	A	G	1: 160,454,939 (GRCm39)		probably benign	Het
Raph1	T	C	1: 60,539,764 (GRCm39)	K423E	probably benign	Het
Rbm27	A	G	18: 42,431,529 (GRCm39)	D112G	probably benign	Het
Rbm46	A	T	3: 82,771,537 (GRCm39)	S359R	probably damaging	Het
Rhobtb3	A	T	13: 76,050,364 (GRCm39)	*100R	probably null	Het
Ryr2	T	C	13: 11,610,670 (GRCm39)	E4052G	probably damaging	Het
Sart3	G	T	5: 113,893,458 (GRCm39)	D346E	possibly damaging	Het
Sgsm1	A	G	5: 113,416,616 (GRCm39)	F629S	probably damaging	Het
Siglec1	T	C	2: 130,915,317 (GRCm39)	T1425A	possibly damaging	Het
Slc12a2	A	T	18: 58,048,594 (GRCm39)		probably benign	Het
Slc38a10	G	T	11: 120,001,138 (GRCm39)	P561T	probably benign	Het
Slc45a4	A	G	15: 73,477,285 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,558,146 (GRCm39)		probably benign	Het
Son	T	A	16: 91,455,865 (GRCm39)	H1537Q	possibly damaging	Het
Synpo2l	A	T	14: 20,716,340 (GRCm39)		probably benign	Het
Tarbp1	A	G	8: 127,174,269 (GRCm39)	Y846H	probably damaging	Het
Tgfb1	T	A	7: 25,393,779 (GRCm39)		probably benign	Het
Tigd2	C	A	6: 59,188,369 (GRCm39)	T412K	possibly damaging	Het
Umodl1	A	T	17: 31,187,451 (GRCm39)	N172Y	probably damaging	Het
Urah	C	T	7: 140,416,665 (GRCm39)	T46I	probably damaging	Het
Usp8	C	T	2: 126,579,809 (GRCm39)	P353L	probably damaging	Het
Vamp2	A	G	11: 68,980,585 (GRCm39)	D51G	possibly damaging	Het
Vps13a	A	T	19: 16,653,504 (GRCm39)	V1959E	probably damaging	Het
Wdr76	C	T	2: 121,365,900 (GRCm39)		probably benign	Het
Zbtb38	C	T	9: 96,569,729 (GRCm39)	V452M	probably damaging	Het
Zbtb41	A	G	1: 139,369,572 (GRCm39)	K650E	probably damaging	Het
Zfp532	A	G	18: 65,777,404 (GRCm39)	Y887C	probably damaging	Het

Other mutations in Or13c3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02114:Or13c3	APN	4	52,856,144 (GRCm39)	missense	probably damaging	1.00
R0048:Or13c3	UTSW	4	52,856,196 (GRCm39)	missense	probably damaging	1.00
R0826:Or13c3	UTSW	4	52,855,566 (GRCm39)	missense	probably benign
R0831:Or13c3	UTSW	4	52,855,764 (GRCm39)	missense	possibly damaging	0.46
R1772:Or13c3	UTSW	4	52,855,730 (GRCm39)	missense	probably benign	0.30
R1774:Or13c3	UTSW	4	52,855,674 (GRCm39)	missense	probably benign	0.01
R1861:Or13c3	UTSW	4	52,856,373 (GRCm39)	missense	probably benign	0.00
R2080:Or13c3	UTSW	4	52,855,568 (GRCm39)	missense	probably benign	0.20
R2242:Or13c3	UTSW	4	52,855,769 (GRCm39)	missense	probably damaging	1.00
R3777:Or13c3	UTSW	4	52,855,636 (GRCm39)	missense	probably damaging	1.00
R4492:Or13c3	UTSW	4	52,855,764 (GRCm39)	missense	probably benign	0.01
R4748:Or13c3	UTSW	4	52,856,076 (GRCm39)	missense	possibly damaging	0.95
R4880:Or13c3	UTSW	4	52,856,411 (GRCm39)	missense	probably damaging	1.00
R4905:Or13c3	UTSW	4	52,855,613 (GRCm39)	missense	probably damaging	0.99
R5856:Or13c3	UTSW	4	52,856,516 (GRCm39)	start gained	probably benign
R6585:Or13c3	UTSW	4	52,856,192 (GRCm39)	missense	possibly damaging	0.84
R6862:Or13c3	UTSW	4	52,855,695 (GRCm39)	missense	probably benign
R7378:Or13c3	UTSW	4	52,856,421 (GRCm39)	missense	probably benign
R7649:Or13c3	UTSW	4	52,855,692 (GRCm39)	nonsense	probably null
R8793:Or13c3	UTSW	4	52,856,490 (GRCm39)	missense	probably benign
R9169:Or13c3	UTSW	4	52,856,052 (GRCm39)	missense	probably damaging	0.97

Posted On

2013-01-08