Mutagenetix > Incidental Mutations

Incidental Mutation 'R6862:Olfr350'

535674

Institutional Source

Beutler Lab

Gene Symbol

Olfr350

Ensembl Gene

ENSMUSG00000050015

Gene Name

olfactory receptor 350

Synonyms

MOR136-13, GA_x6K02T2NLDC-33544602-33545540

MMRRC Submission

Accession Numbers

Genbank: NM_146627; MGI: 3030184

Is this an essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R6862 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36846310-36851702 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36850222 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 59 (M59L)

Ref Sequence

ENSEMBL: ENSMUSP00000149667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055130] [ENSMUST00000214457] [ENSMUST00000215100]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055130
AA Change: M59L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053105
Gene: ENSMUSG00000050015
AA Change: M59L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	6.3e-61	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.3e-7	PFAM
Pfam:7tm_1	41	290	3e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214457
AA Change: M59L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215100
AA Change: M59L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

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: 138,186,188		probably benign	Het
Adgra2	C	A	8: 27,113,436	H416Q	probably benign	Het
Adgra2	T	A	8: 27,113,437	C417S	probably damaging	Het
Aff3	C	A	1: 38,406,497	R307L	possibly damaging	Het
Arhgap17	T	C	7: 123,321,901	D121G	probably damaging	Het
Ascc3	G	T	10: 50,849,646	R2155I	probably null	Het
Ccdc115	C	T	1: 34,439,283	S19N	possibly damaging	Het
Ccser2	T	C	14: 36,940,081	N382S	probably benign	Het
Cct6b	A	T	11: 82,719,959	V500E	probably damaging	Het
Cenpo	A	T	12: 4,216,539	Y190N	probably damaging	Het
Cfh	T	A	1: 140,102,362	K924N	probably damaging	Het
Col4a1	A	G	8: 11,202,926		probably benign	Het
Coro1b	T	C	19: 4,150,771	V234A	probably benign	Het
Crot	T	C	5: 8,989,641	K69E	probably damaging	Het
Cyp2d11	A	T	15: 82,390,138	H347Q	probably benign	Het
Fam71b	G	A	11: 46,407,591	G574D	possibly damaging	Het
Fbn2	T	A	18: 58,124,321	I325F	probably benign	Het
Fbxw4	T	A	19: 45,582,748	R41S	probably benign	Het
Fn1	T	A	1: 71,613,907	I1308F	probably benign	Het
Frem1	C	A	4: 83,012,014	E232*	probably null	Het
Gabrg3	T	C	7: 56,773,311	Q213R	possibly damaging	Het
Gm11639	A	T	11: 104,721,458	K636*	probably null	Het
Gm428	A	G	4: 73,687,384	N344S	probably benign	Het
Gsdme	A	T	6: 50,227,398	V193E	probably damaging	Het
Hadha	C	A	5: 30,147,979		probably null	Het
Hdgfl2	C	A	17: 56,099,211	A533E	probably damaging	Het
Hivep2	T	C	10: 14,130,583	F975S	probably damaging	Het
Htatip2	T	A	7: 49,770,918	S171T	probably benign	Het
Ift57	A	T	16: 49,763,804	I307F	possibly damaging	Het
Il22	A	T	10: 118,205,810	R110W	probably benign	Het
Kcnk13	G	T	12: 100,061,689	R341L	probably damaging	Het
Kif2b	G	A	11: 91,575,915	T514M	probably damaging	Het
Kmt2c	A	C	5: 25,310,517	I2776S	probably damaging	Het
Ly9	T	C	1: 171,601,155	D189G	probably benign	Het
Mal2	T	C	15: 54,588,357	V58A	probably damaging	Het
Mettl21e	T	A	1: 44,206,366	N240I	probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Nacc1	G	A	8: 84,673,215	R458C	probably damaging	Het
Ncapd3	T	C	9: 27,030,809	C14R	probably damaging	Het
Obscn	G	T	11: 58,995,453		probably benign	Het
Olfr273	A	G	4: 52,855,695	F273L	probably benign	Het
Olfr930	T	A	9: 38,930,476	F102I	possibly damaging	Het
Parp12	T	C	6: 39,111,736	I189V	probably benign	Het
Pde4dip	C	A	3: 97,767,024	R192L	possibly damaging	Het
Pdlim4	C	A	11: 54,055,848	E204D	probably damaging	Het
Phf3	T	C	1: 30,813,982	Q1049R	probably damaging	Het
Prr14l	A	G	5: 32,827,759	L1464P	probably damaging	Het
Psg25	C	T	7: 18,521,398	V398I	probably benign	Het
Ptprq	T	A	10: 107,686,225	N622Y	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Tex36	A	G	7: 133,587,273	L190P	probably benign	Het
Tk1	A	G	11: 117,816,494	C156R	probably damaging	Het
Tmem144	T	A	3: 79,832,099	M126L	probably benign	Het
Tmem208	G	A	8: 105,328,230		probably null	Het
Trappc13	T	C	13: 104,150,152	Q199R	probably damaging	Het
Trim30b	T	A	7: 104,363,753	K156N	probably damaging	Het
Trps1	A	G	15: 50,831,605		probably null	Het
Washc4	T	A	10: 83,558,893	F329Y	possibly damaging	Het
Zbed5	T	G	5: 129,903,185	D658E	probably benign	Het
Zfyve28	T	G	5: 34,288,105	K11N	probably benign	Het
Zp1	C	T	19: 10,916,513	V443I	possibly damaging	Het

Other mutations in Olfr350

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:Olfr350	APN	2	36850270	missense	probably damaging	1.00
IGL01113:Olfr350	APN	2	36850619	missense	probably damaging	1.00
IGL01393:Olfr350	APN	2	36850541	missense	probably benign	0.01
IGL02302:Olfr350	APN	2	36850703	missense	probably benign	0.02
IGL02316:Olfr350	APN	2	36850282	missense	probably damaging	1.00
F6893:Olfr350	UTSW	2	36850807	missense	probably benign	0.00
PIT4402001:Olfr350	UTSW	2	36850304	missense	probably benign
R0312:Olfr350	UTSW	2	36850360	missense	probably benign	0.01
R0525:Olfr350	UTSW	2	36850190	missense	probably damaging	1.00
R0557:Olfr350	UTSW	2	36850748	missense	possibly damaging	0.95
R0665:Olfr350	UTSW	2	36850190	missense	probably damaging	1.00
R2019:Olfr350	UTSW	2	36850406	missense	possibly damaging	0.95
R2107:Olfr350	UTSW	2	36850343	missense	possibly damaging	0.54
R2108:Olfr350	UTSW	2	36850343	missense	possibly damaging	0.54
R2848:Olfr350	UTSW	2	36850799	missense	probably damaging	1.00
R3964:Olfr350	UTSW	2	36850717	missense	probably benign	0.12
R4822:Olfr350	UTSW	2	36850876	missense	probably benign	0.10
R4907:Olfr350	UTSW	2	36850258	missense	probably benign	0.28
R5134:Olfr350	UTSW	2	36850476	missense	probably benign	0.03
R5144:Olfr350	UTSW	2	36850144	missense	probably benign
R5702:Olfr350	UTSW	2	36850934	missense	probably damaging	1.00
R5727:Olfr350	UTSW	2	36850532	missense	possibly damaging	0.80
R5786:Olfr350	UTSW	2	36850049	start codon destroyed	probably null	0.98
R6179:Olfr350	UTSW	2	36850834	missense	possibly damaging	0.59
R7258:Olfr350	UTSW	2	36850340	missense	probably damaging	0.99
R7307:Olfr350	UTSW	2	36850125	missense	probably benign	0.00
R7353:Olfr350	UTSW	2	36850069	missense	probably benign
R7412:Olfr350	UTSW	2	36850466	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- ATCCTCTGTTGAAAGCAAAGAGAAG -3'
(R):5'- ATACCGATCATATGCCATTGAAGTG -3'

Sequencing Primer
(F):5'- CTGTTGAAAGCAAAGAGAAGAATAAC -3'
(R):5'- TCATATGCCATTGAAGTGAGGAG -3'

Posted On

2018-10-18