Mutagenetix > Incidental Mutation

Incidental Mutation 'R6862:Or13c3'

535678

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

045026-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R6862 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52855558-52856511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52855695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 273 (F273L)

Ref Sequence

ENSEMBL: ENSMUSP00000149869 (fasta)

Gene Model

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

AlphaFold

Q8VG87

Predicted Effect

probably benign
Transcript: ENSMUST00000051520
AA Change: F273L

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

SMART Domains

Protein: ENSMUSP00000052080
Gene: ENSMUSG00000049648
AA Change: F273L

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 benign
Transcript: ENSMUST00000107670
AA Change: F273L

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

SMART Domains

Protein: ENSMUSP00000103297
Gene: ENSMUSG00000049648
AA Change: F273L

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: F273L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (57/58)

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
4930579F01Rik	C	T	3: 137,891,949 (GRCm39)		probably benign	Het
Adgra2	T	A	8: 27,603,465 (GRCm39)	C417S	probably damaging	Het
Adgra2	C	A	8: 27,603,464 (GRCm39)	H416Q	probably benign	Het
Aff3	C	A	1: 38,445,578 (GRCm39)	R307L	possibly damaging	Het
Arhgap17	T	C	7: 122,921,124 (GRCm39)	D121G	probably damaging	Het
Ascc3	G	T	10: 50,725,742 (GRCm39)	R2155I	probably null	Het
Ccdc115	C	T	1: 34,478,364 (GRCm39)	S19N	possibly damaging	Het
Ccser2	T	C	14: 36,662,038 (GRCm39)	N382S	probably benign	Het
Cct6b	A	T	11: 82,610,785 (GRCm39)	V500E	probably damaging	Het
Cenpo	A	T	12: 4,266,539 (GRCm39)	Y190N	probably damaging	Het
Cfh	T	A	1: 140,030,100 (GRCm39)	K924N	probably damaging	Het
Col4a1	A	G	8: 11,252,926 (GRCm39)		probably benign	Het
Coro1b	T	C	19: 4,200,770 (GRCm39)	V234A	probably benign	Het
Crot	T	C	5: 9,039,641 (GRCm39)	K69E	probably damaging	Het
Cyp2d11	A	T	15: 82,274,339 (GRCm39)	H347Q	probably benign	Het
Efcab3	A	T	11: 104,612,284 (GRCm39)	K636*	probably null	Het
Fbn2	T	A	18: 58,257,393 (GRCm39)	I325F	probably benign	Het
Fbxw4	T	A	19: 45,571,187 (GRCm39)	R41S	probably benign	Het
Fn1	T	A	1: 71,653,066 (GRCm39)	I1308F	probably benign	Het
Frem1	C	A	4: 82,930,251 (GRCm39)	E232*	probably null	Het
Gabrg3	T	C	7: 56,423,059 (GRCm39)	Q213R	possibly damaging	Het
Garin3	G	A	11: 46,298,418 (GRCm39)	G574D	possibly damaging	Het
Gsdme	A	T	6: 50,204,378 (GRCm39)	V193E	probably damaging	Het
Hadha	C	A	5: 30,352,977 (GRCm39)		probably null	Het
Hdgfl2	C	A	17: 56,406,211 (GRCm39)	A533E	probably damaging	Het
Hivep2	T	C	10: 14,006,327 (GRCm39)	F975S	probably damaging	Het
Htatip2	T	A	7: 49,420,666 (GRCm39)	S171T	probably benign	Het
Ift57	A	T	16: 49,584,167 (GRCm39)	I307F	possibly damaging	Het
Il22	A	T	10: 118,041,715 (GRCm39)	R110W	probably benign	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Kif2b	G	A	11: 91,466,741 (GRCm39)	T514M	probably damaging	Het
Kmt2c	A	C	5: 25,515,515 (GRCm39)	I2776S	probably damaging	Het
Ly9	T	C	1: 171,428,723 (GRCm39)	D189G	probably benign	Het
Mal2	T	C	15: 54,451,753 (GRCm39)	V58A	probably damaging	Het
Mettl21e	T	A	1: 44,245,526 (GRCm39)	N240I	probably benign	Het
Msantd5f1	A	G	4: 73,605,621 (GRCm39)	N344S	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nacc1	G	A	8: 85,399,844 (GRCm39)	R458C	probably damaging	Het
Ncapd3	T	C	9: 26,942,105 (GRCm39)	C14R	probably damaging	Het
Obscn	G	T	11: 58,886,279 (GRCm39)		probably benign	Het
Or1j4	A	T	2: 36,740,234 (GRCm39)	M59L	possibly damaging	Het
Or8d23	T	A	9: 38,841,772 (GRCm39)	F102I	possibly damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Pde4dip	C	A	3: 97,674,340 (GRCm39)	R192L	possibly damaging	Het
Pdlim4	C	A	11: 53,946,674 (GRCm39)	E204D	probably damaging	Het
Phf3	T	C	1: 30,853,063 (GRCm39)	Q1049R	probably damaging	Het
Prr14l	A	G	5: 32,985,103 (GRCm39)	L1464P	probably damaging	Het
Psg25	C	T	7: 18,255,323 (GRCm39)	V398I	probably benign	Het
Ptprq	T	A	10: 107,522,086 (GRCm39)	N622Y	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Tex36	A	G	7: 133,189,002 (GRCm39)	L190P	probably benign	Het
Tk1	A	G	11: 117,707,320 (GRCm39)	C156R	probably damaging	Het
Tmem144	T	A	3: 79,739,406 (GRCm39)	M126L	probably benign	Het
Tmem208	G	A	8: 106,054,862 (GRCm39)		probably null	Het
Trappc13	T	C	13: 104,286,660 (GRCm39)	Q199R	probably damaging	Het
Trim30b	T	A	7: 104,012,960 (GRCm39)	K156N	probably damaging	Het
Trps1	A	G	15: 50,695,001 (GRCm39)		probably null	Het
Washc4	T	A	10: 83,394,757 (GRCm39)	F329Y	possibly damaging	Het
Zbed5	T	G	5: 129,932,026 (GRCm39)	D658E	probably benign	Het
Zfyve28	T	G	5: 34,445,449 (GRCm39)	K11N	probably benign	Het
Zp1	C	T	19: 10,893,877 (GRCm39)	V443I	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGCTCACAGATTTGCAATTAAGTC -3'
(R):5'- CATATCAAATATGGCCTTCCTGG -3'

Sequencing Primer
(F):5'- CACAGATTTGCAATTAAGTCAATCTC -3'
(R):5'- AAATATGGCCTTCCTGGTTCTTC -3'

Posted On

2018-10-18