Mutagenetix > Incidental Mutations

Incidental Mutation 'R1564:Olfr800'

175132

Institutional Source

Beutler Lab

Gene Symbol

Olfr800

Ensembl Gene

ENSMUSG00000108114

Gene Name

olfactory receptor 800

Synonyms

GA_x6K02T2PULF-11338429-11339364, MOR114-7

MMRRC Submission

039603-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R1564 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129657694-129662074 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129660015 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 70 (F70L)

Ref Sequence

ENSEMBL: ENSMUSP00000151047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104903] [ENSMUST00000217094]

Predicted Effect

probably benign
Transcript: ENSMUST00000104903
AA Change: F70L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100499
Gene: ENSMUSG00000108114
AA Change: F70L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	7.3e-43	PFAM
Pfam:7tm_1	38	287	6.9e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217094
AA Change: F70L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530099J19Rik	T	C	13: 19,729,300		noncoding transcript	Het
Abca13	C	T	11: 9,434,316	Q3923*	probably null	Het
Abcc12	T	A	8: 86,517,486	T1013S	probably benign	Het
Acad9	T	C	3: 36,089,429	I558T	possibly damaging	Het
Agbl4	C	A	4: 110,955,564		probably null	Het
Akr1b3	C	T	6: 34,306,535		probably null	Het
Aktip	A	G	8: 91,131,081	M1T	probably null	Het
Apc	G	T	18: 34,315,149	Q1665H	probably benign	Het
Arfgef3	T	C	10: 18,591,704	D1916G	probably damaging	Het
Arhgef11	T	C	3: 87,702,510	V365A	probably benign	Het
Bank1	C	A	3: 136,213,841	E265*	probably null	Het
Bbs7	A	T	3: 36,575,795	D578E	probably damaging	Het
Bin3	T	C	14: 70,134,769	F172L	probably damaging	Het
Bves	A	G	10: 45,369,281	D350G	probably benign	Het
Cacna1h	A	T	17: 25,377,861	C80*	probably null	Het
Cacna2d4	T	C	6: 119,241,195	F164L	possibly damaging	Het
Cenpj	T	C	14: 56,552,066	D842G	probably benign	Het
Col12a1	C	A	9: 79,613,840	R2781L	probably damaging	Het
Cyp2c68	A	T	19: 39,735,580	C213*	probably null	Het
Defb33	T	A	8: 20,897,581	C45S	possibly damaging	Het
Dolk	A	T	2: 30,285,621	N137K	probably damaging	Het
Fam171b	G	A	2: 83,880,284	E767K	probably damaging	Het
Fbxl20	A	T	11: 98,098,486	D189E	probably damaging	Het
Gm10643	A	T	8: 84,064,482	M1K	probably null	Het
Gm572	T	G	4: 148,651,186	I24S	possibly damaging	Het
Gnpda1	A	G	18: 38,338,089		probably null	Het
Helz2	G	T	2: 181,233,228	N1824K	probably benign	Het
Insl3	G	T	8: 71,690,291	A99S	possibly damaging	Het
Lpin2	G	A	17: 71,225,060	V137I	probably benign	Het
Lrrc9	A	G	12: 72,487,053	E1032G	probably damaging	Het
Macf1	T	C	4: 123,459,357	T1510A	probably benign	Het
Mnd1	T	C	3: 84,116,431	E116G	probably benign	Het
Mycbp2	A	G	14: 103,169,851		probably null	Het
Myoz3	G	A	18: 60,580,842	S23L	probably benign	Het
Napsa	G	T	7: 44,586,649	V371F	probably damaging	Het
Nefh	T	C	11: 4,939,878	T914A	unknown	Het
Neurod2	A	T	11: 98,327,424	C305S	probably damaging	Het
Nmnat3	T	C	9: 98,354,166		probably null	Het
Nuf2	A	G	1: 169,498,793	V463A	unknown	Het
Olfml1	A	T	7: 107,571,139	T78S	possibly damaging	Het
Olfr1199	A	T	2: 88,756,656	N6K	possibly damaging	Het
Olfr1228	G	T	2: 89,249,672	N7K	probably benign	Het
Olfr61	G	A	7: 140,638,054	V118I	probably benign	Het
Opcml	G	A	9: 28,903,316	C288Y	probably damaging	Het
Oprl1	T	C	2: 181,718,940	I222T	possibly damaging	Het
Pcsk5	A	G	19: 17,654,756	Y349H	probably damaging	Het
Pla2g4d	C	A	2: 120,268,903	R706L	possibly damaging	Het
Pmm1	A	G	15: 81,956,200	Y55H	probably damaging	Het
Polb	A	G	8: 22,630,341		probably null	Het
Pom121l2	T	C	13: 21,983,353	I598T	possibly damaging	Het
Pxmp2	C	T	5: 110,281,196		probably null	Het
Rbm39	G	T	2: 156,154,257	L403I	probably benign	Het
Rec8	T	C	14: 55,622,275		probably null	Het
Reck	T	C	4: 43,912,061	I190T	probably benign	Het
Rer1	A	T	4: 155,075,593	I166N	probably damaging	Het
Rgs17	T	A	10: 5,842,567	K60*	probably null	Het
Ripor2	C	T	13: 24,675,785	T152M	probably damaging	Het
Scgb1b2	A	T	7: 31,291,775		probably benign	Het
Scn3a	C	A	2: 65,514,635	R503M	probably damaging	Het
Scn4a	C	A	11: 106,345,541	D298Y	probably benign	Het
Scn9a	A	G	2: 66,484,304	F1679S	probably damaging	Het
Scyl3	G	T	1: 163,939,984		probably null	Het
Sec23ip	A	G	7: 128,766,281		probably null	Het
She	C	T	3: 89,849,614	A325V	possibly damaging	Het
Skint2	T	G	4: 112,625,998	M200R	probably damaging	Het
Slc17a5	A	T	9: 78,578,699	C35S	probably damaging	Het
Slc25a24	T	A	3: 109,163,503	S393T	probably damaging	Het
Slc6a19	C	T	13: 73,686,124	V320M	probably damaging	Het
Snap91	T	C	9: 86,792,196	D579G	possibly damaging	Het
Spats2l	C	T	1: 57,946,224	R479C	probably damaging	Het
Syngr3	G	C	17: 24,686,668		probably null	Het
Tas2r107	A	C	6: 131,659,822	I88R	probably damaging	Het
Them7	A	T	2: 105,297,914	N80I	probably damaging	Het
Tmprss7	C	T	16: 45,662,153		probably null	Het
Tnrc6b	A	G	15: 80,880,168	N624D	possibly damaging	Het
Trpm2	T	G	10: 77,942,999	I378L	probably benign	Het
Ttn	C	A	2: 76,724,532	W30676L	probably damaging	Het
Ttn	A	G	2: 76,944,040	V2220A	unknown	Het
Uba6	T	C	5: 86,154,407	T134A	probably benign	Het
Vmn2r55	A	G	7: 12,684,751	S81P	probably damaging	Het
Zfp616	T	A	11: 74,084,722	S606T	probably damaging	Het
Zfp653	C	A	9: 22,055,859	A577S	probably damaging	Het

Other mutations in Olfr800

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Olfr800	APN	10	129660126	missense	probably benign	0.26
IGL01915:Olfr800	APN	10	129660650	missense	probably benign	0.05
IGL02458:Olfr800	APN	10	129660606	missense	probably benign	0.38
IGL02721:Olfr800	APN	10	129659955	missense	probably benign
R0032:Olfr800	UTSW	10	129660400	missense	probably benign	0.05
R0442:Olfr800	UTSW	10	129659824	missense	probably benign	0.00
R1580:Olfr800	UTSW	10	129660315	missense	probably benign	0.10
R1593:Olfr800	UTSW	10	129660225	nonsense	probably null
R1911:Olfr800	UTSW	10	129660112	missense	probably benign	0.07
R2001:Olfr800	UTSW	10	129660421	missense	probably benign	0.02
R2223:Olfr800	UTSW	10	129659809	start codon destroyed	probably null	1.00
R3876:Olfr800	UTSW	10	129660274	missense	probably benign	0.39
R3884:Olfr800	UTSW	10	129660538	missense	probably damaging	1.00
R4366:Olfr800	UTSW	10	129660531	missense	probably benign	0.02
R4689:Olfr800	UTSW	10	129660316	missense	probably benign	0.01
R4909:Olfr800	UTSW	10	129660720	missense	probably benign	0.01
R5638:Olfr800	UTSW	10	129660100	missense	possibly damaging	0.80
R5835:Olfr800	UTSW	10	129659934	missense	probably benign	0.39
R5838:Olfr800	UTSW	10	129660038	missense	probably benign	0.41
R6150:Olfr800	UTSW	10	129659934	missense	probably benign	0.39
R6248:Olfr800	UTSW	10	129660663	missense	probably benign	0.39
R8094:Olfr800	UTSW	10	129660064	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATCCTACTGGGACTGACGGATGAC -3'
(R):5'- TGGCAGGATTACAAACAAGCCAGC -3'

Sequencing Primer
(F):5'- TGACGGATGACCCACAACTG -3'
(R):5'- ACAGATCCTGCTGCTCATGATG -3'

Posted On

2014-04-24