Mutagenetix > Incidental Mutations

Incidental Mutation 'R4426:Olfr600'

328169

Institutional Source

Beutler Lab

Gene Symbol

Olfr600

Ensembl Gene

ENSMUSG00000045540

Gene Name

olfactory receptor 600

Synonyms

GA_x6K02T2PBJ9-6056235-6055291, MOR39-1

MMRRC Submission

041697-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R4426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103343482-103349669 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103346083 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 282 (Y282H)

Ref Sequence

ENSEMBL: ENSMUSP00000148967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056222] [ENSMUST00000215042]

Predicted Effect

probably damaging
Transcript: ENSMUST00000056222
AA Change: Y282H

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

SMART Domains

Protein: ENSMUSP00000053887
Gene: ENSMUSG00000045540
AA Change: Y282H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	1.1e-97	PFAM
Pfam:7TM_GPCR_Srsx	37	226	1.2e-12	PFAM
Pfam:7tm_1	43	305	7.2e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215042
AA Change: Y282H

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	G	T	5: 90,572,783	C271F	probably damaging	Het
Arhgef39	C	T	4: 43,497,112	G293E	possibly damaging	Het
Atp8a1	A	C	5: 67,774,828	I206S	probably benign	Het
BC053393	T	A	11: 46,584,420	F147L	probably benign	Het
Cacnb2	A	T	2: 14,975,215	R290*	probably null	Het
Ccdc137	T	C	11: 120,460,248	S159P	probably damaging	Het
Chil5	A	G	3: 106,019,627	S231P	probably damaging	Het
Cic	C	T	7: 25,294,008		probably benign	Het
Csmd3	A	G	15: 47,669,185	V2434A	possibly damaging	Het
Csnk1a1	A	G	18: 61,585,310		probably benign	Het
D330045A20Rik	T	C	X: 139,480,896	V134A	possibly damaging	Het
Eif4e1b	T	C	13: 54,784,483	S49P	probably benign	Het
Far1	C	A	7: 113,550,001	P194Q	probably benign	Het
Fut4	T	C	9: 14,751,381	T206A	possibly damaging	Het
Galnt7	G	T	8: 57,552,572	S209*	probably null	Het
Gas2l1	A	G	11: 5,063,908	V184A	probably benign	Het
Herc1	T	C	9: 66,496,005	L4402P	probably damaging	Het
Hoxa13	C	A	6: 52,260,729		probably benign	Het
Ighv1-9	T	A	12: 114,583,796	K42*	probably null	Het
Kif20a	C	T	18: 34,631,941	R743W	probably damaging	Het
Lama2	G	A	10: 27,422,558	R181C	probably damaging	Het
Lrp2	G	T	2: 69,506,348	T1360K	probably benign	Het
Map4k1	G	A	7: 28,988,595	V177I	probably damaging	Het
Nbea	G	A	3: 56,082,379	T352I	probably damaging	Het
Nde1	A	G	16: 14,188,336	T82A	possibly damaging	Het
Nes	A	G	3: 87,976,042	E536G	probably damaging	Het
Nms	C	T	1: 38,939,296	P4L	probably benign	Het
Nrip1	T	C	16: 76,291,405	Q1088R	possibly damaging	Het
Nwd1	A	G	8: 72,666,795	K229E	probably damaging	Het
Olfr583	T	C	7: 103,051,811	L171P	probably damaging	Het
Pcdhac2	T	A	18: 37,144,743	S259T	probably benign	Het
Pdcd5	T	C	7: 35,646,180	D102G	possibly damaging	Het
Pgm2	T	C	4: 99,962,140	V169A	probably benign	Het
Pitpnm2	C	T	5: 124,142,123	E121K	probably benign	Het
Plin3	T	C	17: 56,286,555	Y53C	probably damaging	Het
Poc1b	T	C	10: 99,155,139		probably null	Het
Polr2c	A	T	8: 94,863,462	N232Y	probably damaging	Het
Ppp1r9b	A	T	11: 95,001,324	R188S	possibly damaging	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rab3gap2	G	A	1: 185,235,342	S141N	probably damaging	Het
Rap1gap2	C	A	11: 74,407,322	A491S	possibly damaging	Het
Rnf166	A	G	8: 122,470,240	L91P	probably damaging	Het
Robo2	T	A	16: 73,948,266	M200L	probably damaging	Het
Rp1	A	T	1: 4,347,924	H988Q	probably benign	Het
Sbno2	T	C	10: 80,072,358	K69R	probably null	Het
Sgce	G	A	6: 4,691,459	A295V	probably damaging	Het
Shc3	C	G	13: 51,480,094		probably null	Het
Slc44a1	T	C	4: 53,563,286	V671A	probably benign	Het
Sptbn4	A	C	7: 27,423,798	L233R	probably damaging	Het
Stx5a	A	G	19: 8,749,740	T252A	probably benign	Het
Tmem87b	C	T	2: 128,846,750	A485V	probably benign	Het
Tns1	A	G	1: 73,985,749	I403T	probably damaging	Het
Ttll10	G	C	4: 156,048,561	T22R	possibly damaging	Het
Uevld	A	T	7: 46,940,142	S293T	probably benign	Het
Utp18	T	C	11: 93,866,438	N467D	probably damaging	Het
Vmn1r39	A	T	6: 66,805,361		probably null	Het
Vmn2r106	A	G	17: 20,285,379	S18P	probably benign	Het
Vmn2r61	A	T	7: 42,300,733	H859L	probably benign	Het
Vmn2r61	T	C	7: 42,300,735	S860P	probably benign	Het
Vmn2r72	G	A	7: 85,737,828	R843*	probably null	Het
Vwc2	A	G	11: 11,154,235	T256A	probably damaging	Het
Zfp715	T	C	7: 43,311,092	D25G	probably damaging	Het

Other mutations in Olfr600

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01525:Olfr600	APN	7	103346179	missense	probably benign	0.15
IGL02239:Olfr600	APN	7	103346598	missense	probably damaging	1.00
IGL02285:Olfr600	APN	7	103346038	nonsense	probably null
IGL02547:Olfr600	APN	7	103346244	missense	probably damaging	1.00
IGL03149:Olfr600	APN	7	103346849	missense	probably benign	0.00
R0193:Olfr600	UTSW	7	103346204	missense	possibly damaging	0.74
R0304:Olfr600	UTSW	7	103346711	missense	probably damaging	1.00
R0454:Olfr600	UTSW	7	103346878	missense	probably benign	0.02
R0622:Olfr600	UTSW	7	103346857	missense	probably damaging	0.97
R1988:Olfr600	UTSW	7	103346109	missense	possibly damaging	0.88
R1989:Olfr600	UTSW	7	103346109	missense	possibly damaging	0.88
R2937:Olfr600	UTSW	7	103346065	missense	probably benign	0.18
R5362:Olfr600	UTSW	7	103346247	missense	probably damaging	1.00
R5723:Olfr600	UTSW	7	103346619	missense	possibly damaging	0.85
R6793:Olfr600	UTSW	7	103346266	missense	probably benign	0.00
R6863:Olfr600	UTSW	7	103346916	missense	possibly damaging	0.86
R6935:Olfr600	UTSW	7	103346795	missense	probably damaging	1.00
R6983:Olfr600	UTSW	7	103346815	missense	probably benign	0.00
R7262:Olfr600	UTSW	7	103346557	missense	probably damaging	1.00
R7313:Olfr600	UTSW	7	103346331	missense	probably benign	0.06
R7774:Olfr600	UTSW	7	103346530	missense	possibly damaging	0.85
X0018:Olfr600	UTSW	7	103346899	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCCTTTCAAGAAAATCCTGAACTG -3'
(R):5'- GGTCATCCTGTCGTATACACTG -3'

Sequencing Primer
(F):5'- TGGTAGAAATTATATGAACTTCTGGC -3'
(R):5'- GTATACACTGATTCTTCGTGCTG -3'

Posted On

2015-07-07