Mutagenetix > Incidental Mutations

Incidental Mutation 'R1892:Olfr790'

211626

Institutional Source

Beutler Lab

Gene Symbol

Olfr790

Ensembl Gene

ENSMUSG00000044025

Gene Name

olfactory receptor 790

Synonyms

GA_x6K02T2PULF-11179777-11180721, MOR112-1

MMRRC Submission

039912-MU

Accession Numbers

Genbank: NM_146933

Is this an essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R1892 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129498492-129503342 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 129501033 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 50 (I50L)

Ref Sequence

ENSEMBL: ENSMUSP00000151759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056002] [ENSMUST00000203966] [ENSMUST00000215067] [ENSMUST00000218901]

Predicted Effect

probably benign
Transcript: ENSMUST00000056002
AA Change: I42L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000052235
Gene: ENSMUSG00000044025
AA Change: I42L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	315	5.6e-53	PFAM
Pfam:7tm_1	47	296	1.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203966
AA Change: I42L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000145450
Gene: ENSMUSG00000044025
AA Change: I42L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	315	5.6e-53	PFAM
Pfam:7tm_1	47	296	1.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215067
AA Change: I42L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000218901
AA Change: I50L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 120,216,338	A270T	probably benign	Het
Abcb7	A	T	X: 104,342,536	H97Q	probably damaging	Het
Adat3	T	C	10: 80,606,415	L29P	probably damaging	Het
AI987944	A	T	7: 41,374,596	C320S	probably damaging	Het
Asic4	C	T	1: 75,469,482	R285W	probably damaging	Het
Asic5	A	T	3: 82,020,986	I419L	probably damaging	Het
Batf	A	G	12: 85,689,328	K42E	probably damaging	Het
Bcar3	A	G	3: 122,508,136	N160S	probably benign	Het
Bco2	C	A	9: 50,550,563	G47V	probably damaging	Het
Bicc1	T	G	10: 70,958,784	K181T	probably damaging	Het
Brinp2	A	G	1: 158,254,972		probably null	Het
Cacng8	A	G	7: 3,415,052	D240G	possibly damaging	Het
Calca	A	G	7: 114,633,727	Y96H	probably damaging	Het
Cdh1	A	T	8: 106,664,250	K666I	possibly damaging	Het
Cdh16	A	T	8: 104,617,999	I500N	possibly damaging	Het
Chst14	A	G	2: 118,927,349	Y208C	probably damaging	Het
Chst9	T	C	18: 15,452,960	H182R	probably damaging	Het
Clk2	A	G	3: 89,175,195	I367M	possibly damaging	Het
Cobl	G	C	11: 12,253,258	S1066W	probably damaging	Het
Ctcfl	A	G	2: 173,118,685	V35A	probably benign	Het
Dchs1	G	T	7: 105,764,156	H1151N	probably benign	Het
Dennd1c	T	C	17: 57,067,083	T529A	probably benign	Het
Dnah11	A	T	12: 118,106,474	V1532D	possibly damaging	Het
Dync1h1	A	G	12: 110,646,304	Y2871C	probably damaging	Het
Dytn	T	C	1: 63,677,261	E51G	probably benign	Het
Esd	C	T	14: 74,749,673	A266V	probably damaging	Het
Fam104a	G	T	11: 113,663,386	P161H	probably damaging	Het
Gli1	T	C	10: 127,330,106	M1093V	possibly damaging	Het
Gm15446	A	G	5: 109,943,387	K502E	probably damaging	Het
Gm15448	A	C	7: 3,824,574	C195G	probably benign	Het
Gm4076	T	A	13: 85,127,328		noncoding transcript	Het
Gm9830	A	G	9: 44,464,528		noncoding transcript	Het
Gm9938	G	A	19: 23,724,591		probably benign	Het
Grhl1	G	A	12: 24,584,910	R245H	probably damaging	Het
Hnrnpul1	A	T	7: 25,726,766	D553E	probably benign	Het
Hpn	G	A	7: 31,099,043	Q415*	probably null	Het
Hsd11b1	T	G	1: 193,223,760	M175L	probably benign	Het
Htra1	G	A	7: 130,985,069	V461I	possibly damaging	Het
Il1rl2	A	G	1: 40,327,534	H76R	probably damaging	Het
Insrr	G	A	3: 87,813,877	V1112M	probably damaging	Het
Ints9	T	C	14: 65,020,423	S351P	probably benign	Het
Itgav	T	A	2: 83,771,336	N350K	probably damaging	Het
Kdm4d	C	A	9: 14,464,317	V82L	probably benign	Het
Klc1	T	C	12: 111,781,827		probably null	Het
Kmt5c	T	A	7: 4,742,715	C69*	probably null	Het
Lgals3	T	G	14: 47,384,707	N193K	possibly damaging	Het
Morc2b	T	A	17: 33,135,774	D1008V	probably damaging	Het
Mpg	C	T	11: 32,231,720	Q243*	probably null	Het
Muc15	C	T	2: 110,737,352	R281*	probably null	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 172,071,471		probably null	Het
Nek5	A	G	8: 22,107,729	M278T	probably benign	Het
Npas2	A	G	1: 39,345,422	T599A	probably benign	Het
Nrf1	A	G	6: 30,144,788	D519G	probably null	Het
Nup43	A	G	10: 7,673,609	H176R	probably damaging	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr218	T	C	1: 173,204,228	Y291H	probably damaging	Het
Olfr497	A	T	7: 108,422,940	Y123F	possibly damaging	Het
Perm1	C	T	4: 156,217,883	R295C	probably benign	Het
Pik3ip1	G	T	11: 3,333,304	A135S	probably damaging	Het
Ppp4c	A	G	7: 126,786,280	V119A	probably damaging	Het
Prepl	A	G	17: 85,088,450	Y35H	possibly damaging	Het
Ptpn13	A	G	5: 103,501,679	Y316C	possibly damaging	Het
Pxk	C	T	14: 8,151,507	R441*	probably null	Het
Ranbp2	T	C	10: 58,464,099	V491A	probably benign	Het
Ranbp9	C	A	13: 43,416,457	C495F	possibly damaging	Het
Rfx8	A	T	1: 39,670,586		probably null	Het
Rnf111	T	A	9: 70,476,374	K92N	probably damaging	Het
Rtn1	A	G	12: 72,212,563	I772T	probably damaging	Het
Ryr2	T	A	13: 11,658,958	K72*	probably null	Het
Sergef	A	T	7: 46,614,616		probably null	Het
Sez6l	T	C	5: 112,472,799	N305S	probably damaging	Het
Slc40a1	A	T	1: 45,911,142	C383*	probably null	Het
Stab2	C	T	10: 86,938,049	C806Y	probably damaging	Het
Stard9	A	G	2: 120,693,708	T795A	probably benign	Het
Stk31	T	C	6: 49,438,474	I536T	probably damaging	Het
Stox1	T	A	10: 62,665,399	T461S	possibly damaging	Het
Suv39h2	T	C	2: 3,459,768	Y219C	probably damaging	Het
Tap1	T	G	17: 34,194,941	D643E	probably damaging	Het
Tbc1d2b	T	A	9: 90,218,943	I665F	probably damaging	Het
Tdrd6	T	C	17: 43,624,805	N1784S	probably benign	Het
Tmem14c	T	C	13: 41,021,157	F81L	possibly damaging	Het
Tnrc6c	A	G	11: 117,714,362	N108D	probably benign	Het
Tox3	A	T	8: 90,270,241	N131K	probably benign	Het
Tspear	T	A	10: 77,870,474	D359E	probably benign	Het
Ttc9	A	G	12: 81,631,777	I125V	probably benign	Het
Ttn	A	T	2: 76,898,187		probably benign	Het
Ubn2	C	T	6: 38,491,291	S980F	probably damaging	Het
Zfp362	T	A	4: 128,790,264	T30S	probably benign	Het
Zfp385c	A	C	11: 100,637,804	H32Q	probably damaging	Het
Zfp870	A	T	17: 32,883,889	H156Q	possibly damaging	Het
Zfp873	T	C	10: 82,061,246	C641R	probably damaging	Het
Zfp950	A	T	19: 61,119,111	H511Q	probably benign	Het

Other mutations in Olfr790

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01132:Olfr790	APN	10	129501646	missense	probably damaging	1.00
IGL01575:Olfr790	APN	10	129501567	missense	probably benign	0.01
IGL02389:Olfr790	APN	10	129501070	missense	probably benign
IGL02601:Olfr790	APN	10	129501854	makesense	probably null
G5030:Olfr790	UTSW	10	129501537	missense	probably benign	0.00
R0785:Olfr790	UTSW	10	129500881	critical splice acceptor site	probably null
R0850:Olfr790	UTSW	10	129501724	missense	probably damaging	0.99
R0899:Olfr790	UTSW	10	129501432	missense	probably damaging	1.00
R1167:Olfr790	UTSW	10	129501150	missense	probably benign	0.03
R1515:Olfr790	UTSW	10	129501591	missense	probably damaging	1.00
R1557:Olfr790	UTSW	10	129501622	missense	probably damaging	1.00
R1759:Olfr790	UTSW	10	129500906	missense	probably benign	0.00
R4296:Olfr790	UTSW	10	129501470	nonsense	probably null
R4681:Olfr790	UTSW	10	129501564	missense	probably damaging	1.00
R5046:Olfr790	UTSW	10	129501309	missense	possibly damaging	0.57
R5309:Olfr790	UTSW	10	129501514	missense	probably damaging	1.00
R5312:Olfr790	UTSW	10	129501514	missense	probably damaging	1.00
R5550:Olfr790	UTSW	10	129501783	missense	probably damaging	1.00
R5788:Olfr790	UTSW	10	129500894	missense	probably benign
R5788:Olfr790	UTSW	10	129500910	start codon destroyed	probably null	0.99
R7457:Olfr790	UTSW	10	129501706	missense	probably damaging	1.00
R7782:Olfr790	UTSW	10	129501151	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGAAAGGAGTAAGAACAGAGCATTTT -3'
(R):5'- GCTGAGCCACGCAACCAT -3'

Sequencing Primer
(F):5'- CCAGACAGAGGTAGCAAGTTCATTTC -3'
(R):5'- TGAGCCACGCAACCATTGTAG -3'

Posted On

2014-06-30