Mutagenetix > Incidental Mutations

Incidental Mutation 'R5319:Olfr843'

405990

Institutional Source

Beutler Lab

Gene Symbol

Olfr843

Ensembl Gene

ENSMUSG00000048391

Gene Name

olfactory receptor 843

Synonyms

GA_x6K02T2PVTD-12986331-12985390, MOR155-2

MMRRC Submission

042902-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R5319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19242956-19251987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19249033 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 122 (R122H)

Ref Sequence

ENSEMBL: ENSMUSP00000151203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061365] [ENSMUST00000214019] [ENSMUST00000214267]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061365
AA Change: R122H

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000051027
Gene: ENSMUSG00000048391
AA Change: R122H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2.4e-51	PFAM
Pfam:7tm_1	41	290	3.3e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214019
AA Change: R122H

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214267
AA Change: R122H

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1024

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (69/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,504,696	S218P	probably benign	Het
A430078G23Rik	T	C	8: 3,385,010		probably null	Het
Ahctf1	A	C	1: 179,769,050	S121A	probably damaging	Het
Anpep	C	T	7: 79,841,731	R174H	probably benign	Het
Becn1	A	G	11: 101,288,803		probably benign	Het
Cabin1	T	C	10: 75,725,715	Y984C	probably damaging	Het
Cacna2d4	G	T	6: 119,347,252		probably null	Het
Ccdc14	T	G	16: 34,723,172	N633K	probably damaging	Het
Cdk5rap1	T	A	2: 154,335,569	T577S	possibly damaging	Het
Clca4b	T	C	3: 144,925,179	R307G	possibly damaging	Het
Colgalt2	A	G	1: 152,484,869	Q219R	possibly damaging	Het
Cops3	A	T	11: 59,827,936	D177E	possibly damaging	Het
Cyp2d9	T	C	15: 82,454,055	Y127H	probably damaging	Het
Dnajc11	A	G	4: 151,968,526	T98A	probably damaging	Het
Dst	T	C	1: 34,225,977	S4757P	possibly damaging	Het
Dvl2	C	T	11: 70,008,131	T448I	possibly damaging	Het
E230016K23Rik	T	G	11: 83,621,670		noncoding transcript	Het
Efl1	G	T	7: 82,674,506	D219Y	probably damaging	Het
Epha10	T	A	4: 124,914,000		probably benign	Het
Fbxw22	T	A	9: 109,383,947	T311S	possibly damaging	Het
Folr1	T	A	7: 101,863,977	D37V	probably damaging	Het
Fshb	T	A	2: 107,058,879	I27F	probably damaging	Het
Gm340	G	A	19: 41,586,352	G1182D	probably damaging	Het
Gm8521	A	T	Y: 3,859,335		noncoding transcript	Het
Gpr45	T	C	1: 43,032,838	S214P	probably damaging	Het
Hgf	G	A	5: 16,566,862		probably null	Het
Hs6st1	T	C	1: 36,104,178	V398A	probably benign	Het
Ighmbp2	A	G	19: 3,271,646	V371A	probably damaging	Het
Kif18a	T	A	2: 109,318,025	N621K	probably benign	Het
Lama5	A	G	2: 180,181,118	F2785S	probably damaging	Het
Lrriq3	T	C	3: 155,129,471	I281T	possibly damaging	Het
Macf1	C	T	4: 123,473,436	A2511T	probably damaging	Het
Mark4	T	C	7: 19,436,961	D328G	possibly damaging	Het
Myo1c	G	A	11: 75,662,026	E434K	possibly damaging	Het
Nfe2l1	A	G	11: 96,819,379	S387P	probably damaging	Het
Nr1d2	A	G	14: 18,215,197	S272P	probably benign	Het
Nsrp1	T	C	11: 77,049,467	H104R	probably damaging	Het
Odf1	T	A	15: 38,219,619	S64T	probably benign	Het
Olfr1204	T	A	2: 88,852,778	I276K	probably damaging	Het
Olfr223	A	T	11: 59,589,651	V146E	probably damaging	Het
Pde4b	C	A	4: 102,421,788		probably benign	Het
Phox2a	C	T	7: 101,820,850	T96M	probably damaging	Het
Plg	A	G	17: 12,403,227	E478G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ppp1r12c	T	A	7: 4,483,984	T517S	probably benign	Het
Ptk7	C	T	17: 46,572,677	V821M	probably damaging	Het
Ptpn6	C	T	6: 124,732,950	V2M	probably benign	Het
Rgl2	T	C	17: 33,933,555	V380A	probably benign	Het
Rpl13a-ps1	A	G	19: 50,030,152	V195A	possibly damaging	Het
Rsph1	C	A	17: 31,273,377	V72F	probably benign	Het
Sh3bp4	T	C	1: 89,145,350	V640A	probably benign	Het
Simc1	T	A	13: 54,524,982	V381E	probably benign	Het
Slc15a3	A	T	19: 10,855,932	T438S	probably damaging	Het
Slc5a4b	C	T	10: 76,062,399	V494M	probably benign	Het
Sos2	C	A	12: 69,627,284	R335L	probably benign	Het
Trp53i13	A	T	11: 77,508,740	N254K	probably damaging	Het
Trpc6	A	G	9: 8,609,921	Y130C	probably damaging	Het
Trpv1	A	G	11: 73,239,589	I174V	probably damaging	Het
Tsnax	T	A	8: 125,015,719	D62E	probably damaging	Het
Vezt	T	A	10: 93,970,331	E739D	probably benign	Het
Vmn1r59	T	A	7: 5,454,210	I184F	probably damaging	Het
Yeats2	T	C	16: 20,186,425	V385A	probably benign	Het

Other mutations in Olfr843

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Olfr843	APN	9	19248870	missense	probably benign	0.21
IGL02338:Olfr843	APN	9	19248664	missense	probably damaging	0.98
IGL03197:Olfr843	APN	9	19248802	missense	probably benign	0.37
IGL03227:Olfr843	APN	9	19249222	missense	probably damaging	1.00
IGL03046:Olfr843	UTSW	9	19249145	missense	probably damaging	0.99
IGL03052:Olfr843	UTSW	9	19248642	nonsense	probably null
R0423:Olfr843	UTSW	9	19248952	nonsense	probably null
R1316:Olfr843	UTSW	9	19248739	missense	probably benign	0.06
R1759:Olfr843	UTSW	9	19249088	missense	probably benign	0.36
R1782:Olfr843	UTSW	9	19248581	missense	probably benign	0.04
R2517:Olfr843	UTSW	9	19249061	missense	probably benign	0.21
R3196:Olfr843	UTSW	9	19249199	missense	probably damaging	1.00
R3742:Olfr843	UTSW	9	19248683	missense	possibly damaging	0.91
R4191:Olfr843	UTSW	9	19249087	missense	probably benign	0.05
R4320:Olfr843	UTSW	9	19248756	missense	probably damaging	1.00
R4523:Olfr843	UTSW	9	19249229	missense	probably damaging	0.98
R4756:Olfr843	UTSW	9	19248857	missense	possibly damaging	0.56
R4908:Olfr843	UTSW	9	19248853	missense	probably benign	0.00
R5554:Olfr843	UTSW	9	19248743	missense	probably benign	0.02
R6011:Olfr843	UTSW	9	19248511	missense	probably damaging	0.98
R7330:Olfr843	UTSW	9	19249271	missense	probably benign	0.01
R7862:Olfr843	UTSW	9	19249440	start gained	probably benign
R7945:Olfr843	UTSW	9	19249440	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGAGCAGGCATGTTTGATG -3'
(R):5'- TGGATTATCACCTCCATACACC -3'

Sequencing Primer
(F):5'- GGCATGTTTGATGACTTGAACAAG -3'
(R):5'- TTATCACCTCCATACACCCATGTAC -3'

Posted On

2016-07-22