Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Olfr1000'

595540

Institutional Source

Beutler Lab

Gene Symbol

Olfr1000

Ensembl Gene

ENSMUSG00000075215

Gene Name

olfactory receptor 1000

Synonyms

MOR175-9, GA_x6K02T2Q125-47087719-47086775

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85607037-85611903 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85608407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 168 (F168L)

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: F168L

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097505
Gene: ENSMUSG00000075215
AA Change: F168L

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: F168L

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216571
AA Change: F168L

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	A	6: 41,033,193	R69L	probably benign	Het
Adamts5	A	T	16: 85,899,966	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,545,275	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,225,187	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413		probably null	Het
Cc2d2b	T	A	19: 40,756,530	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855	E234*	probably null	Het
Cfap65	T	C	1: 74,926,625	T409A	probably benign	Het
Chst5	A	T	8: 111,890,925	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755	Y68H	probably benign	Het
Col4a4	T	C	1: 82,528,793	M269V	unknown	Het
Dgkh	A	G	14: 78,595,145		probably null	Het
Dpp6	A	G	5: 27,451,244	T166A	probably benign	Het
Drosha	A	G	15: 12,881,645	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,854,273	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702	D458E	probably damaging	Het
Grm6	C	A	11: 50,851,542	A134E	probably benign	Het
Ikzf1	T	A	11: 11,748,339	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666	V74I	probably benign	Het
Kcng2	C	T	18: 80,296,090	V328M	probably benign	Het
Kpna7	T	C	5: 145,005,045	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668	M2V	probably benign	Het
Lrpprc	T	C	17: 84,776,947	S113G	probably benign	Het
Mboat1	A	C	13: 30,226,306	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242	H327L	unknown	Het
Myh1	A	G	11: 67,215,922	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Naga	C	A	15: 82,330,147	V388L	probably benign	Het
Nfkb1	A	C	3: 135,585,401	M957R	possibly damaging	Het
Nol12	C	A	15: 78,940,593	S157*	probably null	Het
Olfr1038-ps	A	T	2: 86,122,496	D191V	possibly damaging	Het
Olfr272	A	G	4: 52,911,368	V142A	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882	E953G	probably damaging	Het
Piwil2	C	T	14: 70,394,057	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,944,109	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378	F131L	probably benign	Het
Rab28	A	G	5: 41,707,970	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,373,434	K344N	probably damaging	Het
Sorl1	A	G	9: 41,984,526	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,215,675	R228C	probably damaging	Het
Sv2c	A	G	13: 95,976,695	I582T	possibly damaging	Het
Tamm41	C	T	6: 115,016,178	V205M	probably damaging	Het
Tmem2	C	T	19: 21,829,957	L917F	probably benign	Het
Trpm2	T	C	10: 77,925,789	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274	V147I	possibly damaging	Het
Uba2	C	T	7: 34,150,850	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805	N233S	probably benign	Het
Upp2	G	A	2: 58,774,148	M142I	possibly damaging	Het
Vps52	T	A	17: 33,962,134	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636	F118Y	probably damaging	Het
Zcchc6	A	G	13: 59,799,682	F942L	probably benign	Het
Zfp110	T	A	7: 12,848,995	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941	I235V	probably benign	Het

Other mutations in Olfr1000

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Olfr1000	APN	2	85608761	missense	probably benign
IGL01872:Olfr1000	APN	2	85608329	missense	probably benign
IGL01955:Olfr1000	APN	2	85608707	missense	probably benign	0.12
IGL02132:Olfr1000	APN	2	85608320	missense	probably benign	0.00
IGL02139:Olfr1000	APN	2	85608230	nonsense	probably null
IGL02717:Olfr1000	APN	2	85608772	missense	probably damaging	1.00
IGL02950:Olfr1000	APN	2	85608157	missense	possibly damaging	0.92
R1866:Olfr1000	UTSW	2	85608844	missense	probably benign	0.05
R1868:Olfr1000	UTSW	2	85608065	missense	probably damaging	0.98
R1869:Olfr1000	UTSW	2	85608500	missense	probably benign	0.23
R2256:Olfr1000	UTSW	2	85608463	missense	possibly damaging	0.81
R2919:Olfr1000	UTSW	2	85608410	missense	probably benign	0.06
R4736:Olfr1000	UTSW	2	85607983	missense	probably benign
R5197:Olfr1000	UTSW	2	85608447	missense	probably benign	0.01
R5256:Olfr1000	UTSW	2	85608473	missense	probably benign
R5367:Olfr1000	UTSW	2	85608374	missense	probably damaging	0.99
R5389:Olfr1000	UTSW	2	85608283	missense	probably benign
R6991:Olfr1000	UTSW	2	85608248	missense	possibly damaging	0.76
R7017:Olfr1000	UTSW	2	85608329	missense	probably benign
R7020:Olfr1000	UTSW	2	85608632	missense	probably benign	0.11
R7352:Olfr1000	UTSW	2	85608784	missense	probably damaging	1.00
R7392:Olfr1000	UTSW	2	85608488	missense	possibly damaging	0.61
R7586:Olfr1000	UTSW	2	85608184	missense	probably damaging	0.99
R8053:Olfr1000	UTSW	2	85608890	missense	probably damaging	0.98
R8108:Olfr1000	UTSW	2	85608749	missense	possibly damaging	0.94
R9332:Olfr1000	UTSW	2	85607987	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCGACAGTCACCAAGTGAG -3'
(R):5'- ACTGAATGCTTTCTCCTGGC -3'

Sequencing Primer
(F):5'- GGCTGTCTGAATCTTCAAAATTGCC -3'
(R):5'- TCTCCTGGCTGCCATGG -3'

Posted On

2019-11-12