Mutagenetix > Incidental Mutations

Incidental Mutation 'R6991:Olfr1000'

543822

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: 0.056) question?

Stock #

R6991 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85607037-85611903 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85608248 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 221 (I221V)

Ref Sequence

ENSEMBL: ENSMUSP00000150731 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099921
AA Change: I221V

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097505
Gene: ENSMUSG00000075215
AA Change: I221V

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: I221V

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216571
AA Change: I221V

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,580,446	V278D	probably damaging	Het
2410089E03Rik	A	G	15: 8,252,206	E2843G	unknown	Het
9930021J03Rik	A	G	19: 29,719,108	L995S	possibly damaging	Het
Akap12	G	T	10: 4,357,122	E1311*	probably null	Het
Ankdd1a	T	A	9: 65,508,675	D186V	probably benign	Het
Birc6	A	G	17: 74,562,095	E346G	probably damaging	Het
Ccr7	A	C	11: 99,145,304	V264G	probably damaging	Het
Col7a1	T	C	9: 108,983,919		probably null	Het
Coq8a	T	C	1: 180,179,068	T132A	probably benign	Het
Cyp2b10	G	A	7: 25,917,355	S407N	probably benign	Het
Ddi2	A	G	4: 141,685,250	V117A	probably benign	Het
Ddx42	G	A	11: 106,239,144	V421I	probably damaging	Het
Dip2c	C	T	13: 9,634,832	S1232F	probably damaging	Het
Dip2c	T	A	13: 9,551,860	L285*	probably null	Het
Dner	T	A	1: 84,476,402	R402*	probably null	Het
Dpysl3	A	T	18: 43,353,891	I317N	probably damaging	Het
Dusp23	T	A	1: 172,631,657	Y146F	probably benign	Het
Eef1a2	C	A	2: 181,148,628	V412L	possibly damaging	Het
Epha7	C	T	4: 28,821,489	T218I	probably damaging	Het
Gigyf2	T	A	1: 87,407,136	C284S	probably damaging	Het
Gm16427	T	A	5: 93,484,374	N107I	probably damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,649,576		probably benign	Het
Hao2	T	A	3: 98,876,752	E327V	probably damaging	Het
Hdhd5	A	G	6: 120,510,169	V409A	probably damaging	Het
Kif9	T	C	9: 110,494,622	Y236H	probably damaging	Het
Kri1	T	C	9: 21,287,754		probably benign	Het
Lig4	A	T	8: 9,971,098	V894E	probably damaging	Het
Lrriq1	T	C	10: 103,187,458	N982S	probably damaging	Het
Mapk8	T	C	14: 33,410,884	I32V	possibly damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mstn	T	C	1: 53,061,941	I59T	probably benign	Het
Mtrf1l	T	C	10: 5,813,384	E315G	probably damaging	Het
Notch4	G	T	17: 34,584,800	E1515*	probably null	Het
Npw	A	C	17: 24,658,055	V124G	probably benign	Het
Nxph3	A	G	11: 95,511,418	S57P	probably damaging	Het
Olfr1145	G	A	2: 87,810,443	D208N	possibly damaging	Het
Olfr1443	G	T	19: 12,680,748	L213F	probably benign	Het
Olfr493	T	A	7: 108,346,088	N298Y	possibly damaging	Het
Olfr677	T	C	7: 105,056,564	I106T	probably damaging	Het
Opn4	A	T	14: 34,593,907	L390M	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2g2e	G	A	4: 138,880,675	C62Y	probably damaging	Het
Plcb4	G	A	2: 135,910,194	V107M	probably damaging	Het
Prorsd1	A	C	11: 29,514,486		probably benign	Het
Prox2	A	G	12: 85,087,391	L587P	probably benign	Het
Prr22	A	G	17: 56,771,345	D166G	possibly damaging	Het
Ptprz1	G	A	6: 23,002,687	R1592Q	probably benign	Het
Rarg	C	G	15: 102,241,915	R74P	probably damaging	Het
Rcan1	A	G	16: 92,397,363	V54A	probably benign	Het
Rmdn2	A	G	17: 79,621,310		probably benign	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Serpina1a	T	C	12: 103,853,833	T385A	probably benign	Het
Slc44a3	T	C	3: 121,532,165	Y12C	probably benign	Het
Smg1	C	A	7: 118,167,868		probably benign	Het
Spock3	A	G	8: 63,355,381	*437W	probably null	Het
Sugct	T	A	13: 17,554,380	Q220H	probably benign	Het
Tesk1	A	G	4: 43,447,006	T465A	probably benign	Het
Tnks	C	A	8: 34,834,493	R1274I	probably damaging	Het
Trp53bp1	C	T	2: 121,208,040	R1439H	probably damaging	Het
Vmn1r16	G	T	6: 57,322,884	S251*	probably null	Het
Vmn2r15	T	A	5: 109,293,314	Q226L	probably damaging	Het
Vmn2r67	T	G	7: 85,155,745	Y53S	possibly damaging	Het
Vmn2r99	A	G	17: 19,378,110	N132S	probably benign	Het
Wdr73	T	G	7: 80,891,856	T313P	probably benign	Het
Zfp65	C	T	13: 67,708,521	R213Q	probably damaging	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
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
R7727:Olfr1000	UTSW	2	85608407	missense	possibly damaging	0.72
R8053:Olfr1000	UTSW	2	85608890	missense	probably damaging	0.98
R8108:Olfr1000	UTSW	2	85608749	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTCAAGCTGTAGATGAGGGGATTC -3'
(R):5'- ACACACAACTTTGACCTTTTGC -3'

Sequencing Primer
(F):5'- GGATTCAACATGGGGATCACCAC -3'
(R):5'- ACACAACTTTGACCTTTTGCTTACC -3'

Posted On

2019-05-13