Mutagenetix > Incidental Mutation

Incidental Mutation 'R8108:Olfr1000'

630711

Institutional Source

Beutler Lab

Gene Symbol

Olfr1000

Ensembl Gene

ENSMUSG00000075215

Gene Name

olfactory receptor 1000

Synonyms

MOR175-9, GA_x6K02T2Q125-47087719-47086775

MMRRC Submission

067537-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R8108 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85607037-85611903 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85608749 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 54 (R54G)

Ref Sequence

ENSEMBL: ENSMUSP00000149982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099921] [ENSMUST00000213837] [ENSMUST00000216571]

AlphaFold

Q7TR99

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099921
AA Change: R54G

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097505
Gene: ENSMUSG00000075215
AA Change: R54G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.1e-49	PFAM
Pfam:7tm_1	41	290	2.9e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213837
AA Change: R54G

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216571
AA Change: R54G

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 97.3%

Validation Efficiency

99% (72/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	A	12: 84,017,361 (GRCm38)	H414Q	probably benign	Het
Actrt2	A	T	4: 154,667,036 (GRCm38)	D214E	probably benign	Het
Ccdc7a	T	C	8: 128,980,153 (GRCm38)	T332A	unknown	Het
Chd9	C	T	8: 90,933,224 (GRCm38)	H271Y	unknown	Het
Depdc5	T	G	5: 32,945,049 (GRCm38)	D966E	probably benign	Het
Dolpp1	A	G	2: 30,396,246 (GRCm38)	Y119C	probably benign	Het
Dscam	G	C	16: 96,643,879 (GRCm38)	D1537E	probably benign	Het
Dusp16	A	G	6: 134,739,873 (GRCm38)	I157T	probably benign	Het
Dyrk2	T	C	10: 118,859,829 (GRCm38)	D508G	probably benign	Het
Endov	T	C	11: 119,507,411 (GRCm38)	V334A	probably benign	Het
Ep400	A	T	5: 110,687,883 (GRCm38)	V1956E	unknown	Het
Erich3	A	T	3: 154,720,115 (GRCm38)	Y83F	possibly damaging	Het
Fbrsl1	T	C	5: 110,378,379 (GRCm38)		probably null	Het
Gm1110	T	C	9: 26,920,661 (GRCm38)	I65V	probably damaging	Het
Gm28374	A	G	19: 6,082,200 (GRCm38)	V19A		Het
Gm436	A	T	4: 144,670,669 (GRCm38)	N164K	probably benign	Het
Gpr107	C	A	2: 31,184,869 (GRCm38)	H336Q	probably damaging	Het
Gpr137b	T	C	13: 13,359,406 (GRCm38)	Y355C		Het
Grm1	C	A	10: 10,720,132 (GRCm38)	R584L	probably benign	Het
Gse1	T	C	8: 120,229,810 (GRCm38)	S347P	unknown	Het
Ier3ip1	T	A	18: 76,940,525 (GRCm38)	I69K	possibly damaging	Het
Impact	T	G	18: 12,984,331 (GRCm38)	L154V	probably benign	Het
Katnb1	T	C	8: 95,093,945 (GRCm38)	F141S	possibly damaging	Het
Kifap3	T	A	1: 163,797,362 (GRCm38)	N162K	probably damaging	Het
Klhl5	A	G	5: 65,148,587 (GRCm38)		probably null	Het
Klre1	A	G	6: 129,584,222 (GRCm38)	D182G	probably benign	Het
Krt42	T	A	11: 100,266,957 (GRCm38)	Y227F	probably benign	Het
Lhcgr	T	A	17: 88,742,050 (GRCm38)	K683*	probably null	Het
Lrrc37a	G	A	11: 103,503,057 (GRCm38)	S514F	probably benign	Het
Lrrc9	G	T	12: 72,454,059 (GRCm38)	L186F	probably damaging	Het
Metrn	A	G	17: 25,795,030 (GRCm38)	V274A	probably benign	Het
Mettl25	A	T	10: 105,823,179 (GRCm38)	F414L	possibly damaging	Het
Mixl1	A	G	1: 180,696,702 (GRCm38)	V104A	probably damaging	Het
Myo9b	T	A	8: 71,348,342 (GRCm38)	M1047K	probably damaging	Het
Nbea	G	A	3: 55,819,315 (GRCm38)	A2081V	probably benign	Het
Ndufs1	A	T	1: 63,150,012 (GRCm38)	D551E	possibly damaging	Het
Nectin3	T	C	16: 46,464,121 (GRCm38)	T67A	possibly damaging	Het
Nme8	C	T	13: 19,650,960 (GRCm38)	V519I	probably benign	Het
Npat	G	T	9: 53,571,129 (GRCm38)	G1379V	probably benign	Het
Obscn	T	A	11: 59,061,634 (GRCm38)	T3870S	probably benign	Het
Olfr1288	T	C	2: 111,479,234 (GRCm38)	V150A	possibly damaging	Het
Olfr177	T	C	16: 58,872,236 (GRCm38)	M305V	probably benign	Het
Olfr379-ps1	T	A	11: 73,433,854 (GRCm38)	H124L	unknown	Het
Olfr871	T	A	9: 20,212,451 (GRCm38)	M34K	possibly damaging	Het
Olfr910	A	G	9: 38,539,410 (GRCm38)	N172D	probably damaging	Het
Parp8	A	T	13: 116,867,073 (GRCm38)	Y769*	probably null	Het
Pcnx	C	T	12: 81,918,819 (GRCm38)	R59*	probably null	Het
Pdzd2	G	A	15: 12,373,506 (GRCm38)	S2181L	probably benign	Het
Phldb1	T	C	9: 44,711,161 (GRCm38)	E65G	probably damaging	Het
Ppif	C	T	14: 25,698,326 (GRCm38)	T157M	probably damaging	Het
Ppp3ca	T	A	3: 136,932,225 (GRCm38)		probably null	Het
Proser1	T	A	3: 53,472,088 (GRCm38)		probably null	Het
Reg3d	T	A	6: 78,376,079 (GRCm38)	K174*	probably null	Het
Rubcn	A	T	16: 32,856,950 (GRCm38)	L55Q	probably damaging	Het
Sec14l3	T	C	11: 4,066,198 (GRCm38)	L39P	probably damaging	Het
Ska3	A	G	14: 57,826,102 (GRCm38)	I4T	probably damaging	Het
Slc30a10	A	G	1: 185,464,154 (GRCm38)	I338V	possibly damaging	Het
Slc35g1	C	G	19: 38,402,829 (GRCm38)	S186R	probably damaging	Het
Slc35g1	T	A	19: 38,402,831 (GRCm38)	L187H	probably damaging	Het
Spata5	T	C	3: 37,431,782 (GRCm38)	S218P	probably benign	Het
Tbc1d5	T	C	17: 50,742,086 (GRCm38)	I659V	probably benign	Het
Tbl3	G	T	17: 24,700,916 (GRCm38)	D751E	probably benign	Het
Tdrd3	T	A	14: 87,486,266 (GRCm38)	D311E	possibly damaging	Het
Tenm4	T	C	7: 96,854,728 (GRCm38)	F1335S	probably benign	Het
Tm2d1	A	T	4: 98,375,023 (GRCm38)	C83S	probably damaging	Het
Tnfrsf22	A	T	7: 143,638,373 (GRCm38)	V192D	unknown	Het
Trpm6	A	G	19: 18,811,790 (GRCm38)	T575A	probably damaging	Het
Uri1	T	C	7: 37,981,673 (GRCm38)	D102G	possibly damaging	Het
Vmn2r1	T	A	3: 64,103,050 (GRCm38)	C570S	probably damaging	Het
Vps13a	C	T	19: 16,640,787 (GRCm38)	V2906I	probably damaging	Het
Zfp472	T	C	17: 32,978,003 (GRCm38)	Y351H	possibly damaging	Het
Zfp874a	G	T	13: 67,443,234 (GRCm38)	Y110*	probably null	Het
Zfp986	T	A	4: 145,899,305 (GRCm38)	N178K	probably benign	Het

Other mutations in Olfr1000

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Olfr1000	APN	2	85,608,761 (GRCm38)	missense	probably benign
IGL01872:Olfr1000	APN	2	85,608,329 (GRCm38)	missense	probably benign
IGL01955:Olfr1000	APN	2	85,608,707 (GRCm38)	missense	probably benign	0.12
IGL02132:Olfr1000	APN	2	85,608,320 (GRCm38)	missense	probably benign	0.00
IGL02139:Olfr1000	APN	2	85,608,230 (GRCm38)	nonsense	probably null
IGL02717:Olfr1000	APN	2	85,608,772 (GRCm38)	missense	probably damaging	1.00
IGL02950:Olfr1000	APN	2	85,608,157 (GRCm38)	missense	possibly damaging	0.92
R1866:Olfr1000	UTSW	2	85,608,844 (GRCm38)	missense	probably benign	0.05
R1868:Olfr1000	UTSW	2	85,608,065 (GRCm38)	missense	probably damaging	0.98
R1869:Olfr1000	UTSW	2	85,608,500 (GRCm38)	missense	probably benign	0.23
R2256:Olfr1000	UTSW	2	85,608,463 (GRCm38)	missense	possibly damaging	0.81
R2919:Olfr1000	UTSW	2	85,608,410 (GRCm38)	missense	probably benign	0.06
R4736:Olfr1000	UTSW	2	85,607,983 (GRCm38)	missense	probably benign
R5197:Olfr1000	UTSW	2	85,608,447 (GRCm38)	missense	probably benign	0.01
R5256:Olfr1000	UTSW	2	85,608,473 (GRCm38)	missense	probably benign
R5367:Olfr1000	UTSW	2	85,608,374 (GRCm38)	missense	probably damaging	0.99
R5389:Olfr1000	UTSW	2	85,608,283 (GRCm38)	missense	probably benign
R6991:Olfr1000	UTSW	2	85,608,248 (GRCm38)	missense	possibly damaging	0.76
R7017:Olfr1000	UTSW	2	85,608,329 (GRCm38)	missense	probably benign
R7020:Olfr1000	UTSW	2	85,608,632 (GRCm38)	missense	probably benign	0.11
R7352:Olfr1000	UTSW	2	85,608,784 (GRCm38)	missense	probably damaging	1.00
R7392:Olfr1000	UTSW	2	85,608,488 (GRCm38)	missense	possibly damaging	0.61
R7586:Olfr1000	UTSW	2	85,608,184 (GRCm38)	missense	probably damaging	0.99
R7727:Olfr1000	UTSW	2	85,608,407 (GRCm38)	missense	possibly damaging	0.72
R8053:Olfr1000	UTSW	2	85,608,890 (GRCm38)	missense	probably damaging	0.98
R9332:Olfr1000	UTSW	2	85,607,987 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGGCTTACATATGGCTGCATAC -3'
(R):5'- TCCCAACTGACCAATGGAAG -3'

Sequencing Primer
(F):5'- TGGCTGCATACCGATCATATG -3'
(R):5'- GAAAAGAATCAGACTGTCATGCCTG -3'

Posted On

2020-06-30