Mutagenetix > Incidental Mutation

Incidental Mutation 'R7307:Olfr243'

567312

Institutional Source

Beutler Lab

Gene Symbol

Olfr243

Ensembl Gene

ENSMUSG00000094822

Gene Name

olfactory receptor 243

Synonyms

GA_x6K02T2L9TJ-1933-2295, MOR22-4, GA_x6K02T2PBJ9-6440320-6440766, Olfr627

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103714671-103721166 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 103716966 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 124 (R124L)

Ref Sequence

ENSEMBL: ENSMUSP00000150329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098194] [ENSMUST00000215723]

AlphaFold

E9PV96

Predicted Effect

probably damaging
Transcript: ENSMUST00000098194
AA Change: R124L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095796
Gene: ENSMUSG00000094822
AA Change: R124L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	1.6e-105	PFAM
Pfam:7tm_1	43	295	4.5e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215723
AA Change: R124L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.1783

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 17,118,395	P155L	probably benign	Het
Adamts12	G	T	15: 11,217,813	L285F	probably damaging	Het
Ankrd6	A	T	4: 32,816,949	Y393N	possibly damaging	Het
Arhgap45	A	G	10: 80,029,182	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,347,120		probably null	Het
B4galnt3	T	C	6: 120,215,431	D448G	probably benign	Het
Capn1	C	G	19: 5,993,908	E564D	possibly damaging	Het
Ccdc85a	A	G	11: 28,399,384	S474P	probably benign	Het
Cdk12	T	A	11: 98,249,800	L1289*	probably null	Het
Cramp1l	A	T	17: 24,974,745	N920K	possibly damaging	Het
Cubn	C	T	2: 13,340,332	S2091N	probably damaging	Het
Ddx1	A	T	12: 13,223,959	I581N	probably damaging	Het
Dnm2	A	T	9: 21,485,687	N487Y	probably damaging	Het
Enc1	A	C	13: 97,245,093	N37T	probably damaging	Het
Ephb3	T	G	16: 21,222,226	I932S	probably benign	Het
Frk	T	A	10: 34,591,938	M316K	probably damaging	Het
Gdap2	C	T	3: 100,202,033	R25C	unknown	Het
Gm10436	A	C	12: 88,181,749	C32W	probably damaging	Het
Gpat2	T	A	2: 127,434,890	D671E	probably damaging	Het
Gpr179	C	T	11: 97,338,846	E828K	probably benign	Het
Greb1l	T	C	18: 10,538,142	Y1052H	probably damaging	Het
Gtf2f1	C	T	17: 57,007,833	S69N	probably damaging	Het
Hid1	A	C	11: 115,348,482	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,343,081	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,619,769	F120L	probably damaging	Het
Kif16b	C	T	2: 142,712,931	R649Q	probably benign	Het
Kif17	A	T	4: 138,262,643	E47D	probably benign	Het
Kmt2b	T	C	7: 30,580,471	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,849,418	S3342T	unknown	Het
Krt82	A	G	15: 101,542,907	C356R	probably damaging	Het
Lrit2	A	G	14: 37,072,199	K407E	probably benign	Het
Malt1	T	A	18: 65,451,569	H325Q	possibly damaging	Het
Mccc2	T	G	13: 99,988,600	D187A	possibly damaging	Het
Mgll	T	A	6: 88,814,121		probably null	Het
Mindy2	T	G	9: 70,610,959	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,842,294	V96M	unknown	Het
Nlrp4e	A	G	7: 23,321,528	E480G	probably benign	Het
Nup98	A	G	7: 102,134,795	I1093T	probably benign	Het
Olfr1288	A	T	2: 111,478,760		probably benign	Het
Olfr350	G	A	2: 36,850,125	M26I	probably benign	Het
Olfr541	G	A	7: 140,705,147	V299I	probably benign	Het
Pcdhb6	A	T	18: 37,335,478	H484L	probably benign	Het
Phldb1	T	C	9: 44,694,047	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 72,070,964	A275D	probably damaging	Het
Polr2a	A	T	11: 69,747,292		probably null	Het
Polr3a	A	G	14: 24,459,987	C960R	probably benign	Het
Pou6f2	G	A	13: 18,239,713	A159V		Het
Pramef6	A	C	4: 143,896,775	Y276*	probably null	Het
Psmc4	A	G	7: 28,042,660	V303A	probably benign	Het
Ptdss2	A	G	7: 141,151,732	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,589,008	Y1295*	probably null	Het
Rbm19	A	G	5: 120,186,218	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,021,102	Y183*	probably null	Het
Rnd1	T	C	15: 98,670,799	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,418,179	C282S	probably damaging	Het
S100b	G	A	10: 76,257,092	G20R	probably benign	Het
Sae1	G	T	7: 16,368,544	Y168*	probably null	Het
Samd9l	C	A	6: 3,372,600	G1554*	probably null	Het
Samhd1	T	C	2: 157,135,020	S55G	probably benign	Het
Sgsm1	T	C	5: 113,273,646	D525G	probably benign	Het
Slc28a3	A	T	13: 58,563,172	M512K	probably damaging	Het
Slc9b2	T	A	3: 135,318,390	N67K	probably benign	Het
Smarca4	T	A	9: 21,638,800	I402N	probably damaging	Het
St7l	T	C	3: 104,889,353	F261L	probably benign	Het
Syde2	T	A	3: 146,015,798	V1140D	probably damaging	Het
Syt6	T	A	3: 103,587,472	I251N	probably damaging	Het
Taok2	T	C	7: 126,866,818	E916G	probably damaging	Het
Tecta	A	G	9: 42,377,992	S426P	probably damaging	Het
Thra	T	C	11: 98,764,308	I338T	probably damaging	Het
Trub1	A	T	19: 57,472,703	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,545	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,183,500	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,330,541	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,313,250	Y100H	probably damaging	Het

Other mutations in Olfr243

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Olfr243	APN	7	103717121	missense	probably benign	0.06
IGL01550:Olfr243	APN	7	103716997	missense	probably damaging	0.98
IGL02698:Olfr243	APN	7	103717278	missense	probably damaging	1.00
IGL02795:Olfr243	APN	7	103716883	missense	probably benign	0.24
IGL02949:Olfr243	APN	7	103717220	missense	probably benign	0.00
IGL03326:Olfr243	APN	7	103716862	missense	probably benign	0.12
R1605:Olfr243	UTSW	7	103716651	missense	probably damaging	0.99
R1676:Olfr243	UTSW	7	103717112	missense	probably benign
R1973:Olfr243	UTSW	7	103716597	start codon destroyed	probably null	0.93
R2897:Olfr243	UTSW	7	103717542	missense	probably benign
R4667:Olfr243	UTSW	7	103716638	missense	probably benign	0.00
R4883:Olfr243	UTSW	7	103716707	missense	probably benign
R4955:Olfr243	UTSW	7	103716705	missense	probably benign	0.42
R5322:Olfr243	UTSW	7	103717112	missense	probably benign
R5384:Olfr243	UTSW	7	103717355	missense	probably benign	0.12
R5386:Olfr243	UTSW	7	103717355	missense	probably benign	0.12
R5523:Olfr243	UTSW	7	103717480	nonsense	probably null
R7743:Olfr243	UTSW	7	103717353	missense	possibly damaging	0.49
R8006:Olfr243	UTSW	7	103717325	missense	probably damaging	0.98
R9106:Olfr243	UTSW	7	103717530	missense	probably benign
R9581:Olfr243	UTSW	7	103716581	start gained	probably benign
R9681:Olfr243	UTSW	7	103717268	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTACCTCTTCCTAGCAATGC -3'
(R):5'- GAACATCTTCTGCTGCCAGC -3'

Sequencing Primer
(F):5'- GCTTGGAGCAACAGACATTG -3'
(R):5'- AGCTTCACAATGGCCATGTG -3'

Posted On

2019-06-26