Mutagenetix > Incidental Mutations

Incidental Mutation 'R7262:Olfr600'

564688

Institutional Source

Beutler Lab

Gene Symbol

Olfr600

Ensembl Gene

ENSMUSG00000045540

Gene Name

olfactory receptor 600

Synonyms

GA_x6K02T2PBJ9-6056235-6055291, MOR39-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103343482-103349669 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103346557 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 124 (R124G)

Ref Sequence

ENSEMBL: ENSMUSP00000148967 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000056222
AA Change: R124G

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

SMART Domains

Protein: ENSMUSP00000053887
Gene: ENSMUSG00000045540
AA Change: R124G

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: R124G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	G	A	17: 33,066,997	T277I	probably damaging	Het
Acap2	A	G	16: 31,127,319		probably null	Het
Adh5	C	A	3: 138,445,372	A32D	possibly damaging	Het
Ap1m2	A	G	9: 21,302,466	I295T	possibly damaging	Het
B230104I21Rik	T	C	4: 154,349,634	S92P	unknown	Het
Carnmt1	A	T	19: 18,677,864	N127I	probably benign	Het
Ccdc42	A	G	11: 68,594,573	T106A	probably damaging	Het
Cdcp1	T	C	9: 123,173,615	E797G	probably damaging	Het
Cep112	T	A	11: 108,664,641	V821D	probably damaging	Het
Cpvl	A	T	6: 53,932,515	V212D	probably damaging	Het
Cttnbp2nl	A	T	3: 105,032,746	N2K	probably damaging	Het
Cyp2c69	T	C	19: 39,886,732		probably benign	Het
Cyp2u1	T	C	3: 131,297,956	D305G	probably damaging	Het
Dab2ip	A	G	2: 35,622,286		probably null	Het
Ddx55	T	C	5: 124,566,856	L396P	probably benign	Het
Dhx34	G	A	7: 16,203,698	A786V	probably benign	Het
Ehbp1l1	A	T	19: 5,718,446	L943*	probably null	Het
Epm2aip1	A	G	9: 111,272,660	T234A	probably benign	Het
Flot2	T	C	11: 78,057,349	M145T	probably damaging	Het
Fn3k	T	C	11: 121,448,915	F168L	probably damaging	Het
Gm11639	G	A	11: 104,854,606		probably null	Het
Gmfb	A	T	14: 46,814,929	C87S	probably damaging	Het
H2-M3	T	C	17: 37,271,193	F180S	probably damaging	Het
Havcr2	C	T	11: 46,469,561	T205I	probably benign	Het
Hdac3	C	T	18: 37,945,563	C123Y	probably damaging	Het
Itpk1	T	C	12: 102,675,453	E37G	possibly damaging	Het
Jmjd7	A	G	2: 120,031,986	H283R	probably benign	Het
Kif26b	T	C	1: 178,917,654	S1772P	possibly damaging	Het
Klhl6	T	C	16: 19,982,796	T70A	probably damaging	Het
Kntc1	C	A	5: 123,786,973	D1116E	probably benign	Het
Lama4	T	A	10: 39,094,934	H1498Q	probably damaging	Het
Lamp1	A	T	8: 13,167,296	T102S	probably benign	Het
Lrp8	A	G	4: 107,847,464	N168D	probably benign	Het
Ltbp1	G	T	17: 75,364,368	D1515Y	probably damaging	Het
Obscn	A	G	11: 59,115,889	V1149A	probably damaging	Het
Olfr1310	A	G	2: 112,008,557	S210P	probably damaging	Het
Olfr1494	A	T	19: 13,749,171	T22S	probably benign	Het
Pak4	C	A	7: 28,565,200	M92I	possibly damaging	Het
Pam	T	C	1: 97,854,723	K157R		Het
Pcdh9	A	T	14: 93,015,705	V1174E	probably benign	Het
Ppp1r3a	T	C	6: 14,719,070	D615G	probably benign	Het
Senp1	A	T	15: 98,066,498	D278E	probably benign	Het
Serpinc1	A	G	1: 160,989,659	N108D	probably damaging	Het
Srl	C	A	16: 4,497,551	A76S	probably damaging	Het
Tbc1d16	C	A	11: 119,155,095	V509L	probably benign	Het
Tbc1d24	A	G	17: 24,207,846	F357S	probably damaging	Het
Tcaf3	A	G	6: 42,593,801	L339P	probably damaging	Het
Tmem232	A	T	17: 65,500,117	I27N	probably benign	Het
Ubr2	T	C	17: 47,000,739	D62G	probably damaging	Het
Vcan	T	G	13: 89,705,161	D560A	possibly damaging	Het
Vmn2r80	T	A	10: 79,169,745	N405K	probably damaging	Het
Wdhd1	A	T	14: 47,251,973	I701K	probably benign	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
R4426:Olfr600	UTSW	7	103346083	missense	probably damaging	1.00
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
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'- AATGTGGTTGGAGATATCCCCAC -3'
(R):5'- GGCTACACTATCAGTCGTGGAC -3'

Sequencing Primer
(F):5'- TACAGCCATGTACGCACAGTAGG -3'
(R):5'- ACACTATCAGTCGTGGACTTGTGC -3'

Posted On

2019-06-26