Mutagenetix > Incidental Mutations

Incidental Mutation 'R4756:Olfr843'

358021

Institutional Source

Beutler Lab

Gene Symbol

Olfr843

Ensembl Gene

ENSMUSG00000048391

Gene Name

olfactory receptor 843

Synonyms

GA_x6K02T2PVTD-12986331-12985390, MOR155-2

MMRRC Submission

041972-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R4756 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19242956-19251987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19248857 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 181 (L181F)

Ref Sequence

ENSEMBL: ENSMUSP00000151203 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061365
AA Change: L181F

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000051027
Gene: ENSMUSG00000048391
AA Change: L181F

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: L181F

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214267
AA Change: L181F

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,264,028	L122H	probably damaging	Het
4930550C14Rik	A	T	9: 53,425,530	M45L	probably benign	Het
Acss2	T	C	2: 155,561,143	F627L	probably damaging	Het
Akap8	A	G	17: 32,316,210	S277P	probably damaging	Het
Akap9	T	A	5: 4,001,418	M1395K	probably damaging	Het
Ank1	A	G	8: 23,122,877	D1468G	probably benign	Het
Apoe	A	G	7: 19,696,921	V121A	probably benign	Het
Aqp9	A	T	9: 71,163,049	L12H	probably damaging	Het
Atp2b4	G	A	1: 133,711,791	A1115V	probably benign	Het
Atp2b4	G	A	1: 133,739,396	P139L	probably benign	Het
B430218F22Rik	T	C	13: 118,387,444		probably benign	Het
Brsk1	A	G	7: 4,708,867	E572G	possibly damaging	Het
C130060K24Rik	T	C	6: 65,452,914	I198T	probably benign	Het
C6	T	C	15: 4,781,912	I414T	probably benign	Het
C8b	T	A	4: 104,786,886	M250K	probably benign	Het
Camk1g	T	A	1: 193,362,085	E7V	probably benign	Het
Clcc1	A	G	3: 108,672,920		probably null	Het
Col4a3	G	T	1: 82,716,297		probably null	Het
Cox5b	T	A	1: 36,693,229	W104R	probably damaging	Het
Cyp2c55	A	C	19: 39,031,371	H251P	probably damaging	Het
Cyp2c67	G	A	19: 39,643,744	T60I	probably benign	Het
Defb42	T	A	14: 63,048,375	V68E	probably benign	Het
Ercc4	T	A	16: 13,123,423	I225N	probably damaging	Het
Fam120b	G	T	17: 15,402,396	C212F	probably damaging	Het
Fgf10	T	C	13: 118,781,509	V111A	probably benign	Het
Fn1	G	T	1: 71,590,808	T2186K	probably damaging	Het
Fras1	T	C	5: 96,781,659	V3974A	probably benign	Het
Galnt4	T	C	10: 99,108,500	V29A	probably benign	Het
Gpr26	T	C	7: 131,967,501	Y192H	probably damaging	Het
Heatr9	A	T	11: 83,516,649	L236Q	probably damaging	Het
Hivep3	C	A	4: 120,097,823	P1112H	probably damaging	Het
Hnf4g	A	G	3: 3,643,009	Y106C	possibly damaging	Het
Hnrnpdl	A	T	5: 100,037,924	Y69*	probably null	Het
Itgb1	G	A	8: 128,717,222	A320T	probably damaging	Het
Kcna2	T	C	3: 107,105,417	I438T	probably benign	Het
Kif24	A	G	4: 41,397,545		probably null	Het
Klhl1	G	A	14: 96,151,966	T584I	probably benign	Het
Ltbp1	A	G	17: 75,225,204	D91G	probably damaging	Het
Mdga2	T	C	12: 66,797,653	I190M	probably damaging	Het
Meis2	G	A	2: 116,000,205	R276C	probably damaging	Het
Mob4	C	T	1: 55,152,696	R190W	probably damaging	Het
Mrgpra2a	A	G	7: 47,427,366	I48T	possibly damaging	Het
Mst1	T	C	9: 108,083,627	V481A	probably benign	Het
Mttp	A	T	3: 138,116,071	V245E	possibly damaging	Het
Nbn	T	A	4: 15,981,470	S521T	probably benign	Het
Neb	G	T	2: 52,193,231	T5654N	probably damaging	Het
Nlrp9a	A	T	7: 26,557,441	K161N	probably damaging	Het
Nod2	T	G	8: 88,664,274	F388C	possibly damaging	Het
Olfr1248	G	T	2: 89,617,470	H241N	possibly damaging	Het
Olfr1311	A	G	2: 112,020,987	F289S	possibly damaging	Het
Olfr1354	T	A	10: 78,917,527	I229N	probably damaging	Het
Olfr410	G	T	11: 74,334,576	F218L	probably benign	Het
Olfr589	A	T	7: 103,155,125	N207K	probably benign	Het
P2ry1	A	G	3: 61,004,477	S346G	probably benign	Het
Prkcd	A	G	14: 30,599,666	F524L	probably benign	Het
Ramp3	A	T	11: 6,674,843	M46L	probably benign	Het
Rint1	T	C	5: 23,809,793	Y278H	probably damaging	Het
Skint11	C	T	4: 114,194,677	T74I	probably benign	Het
Slc10a7	T	C	8: 78,706,950		probably null	Het
Slc45a2	T	A	15: 11,027,930	Y528*	probably null	Het
Slit1	A	G	19: 41,649,013	F329L	probably damaging	Het
Sltm	A	T	9: 70,591,610	M989L	possibly damaging	Het
Smad9	A	T	3: 54,794,453	T372S	possibly damaging	Het
Snrpc	T	A	17: 27,842,332	Y38*	probably null	Het
Spag17	A	G	3: 100,103,385	K2065R	possibly damaging	Het
Stxbp4	T	A	11: 90,607,371	K87N	probably damaging	Het
Tbc1d23	AT	ATT	16: 57,198,895		probably null	Het
Tgfb1i1	A	T	7: 128,249,399	M96L	probably damaging	Het
Tnc	T	A	4: 63,967,343	I1841F	probably damaging	Het
Twistnb	T	A	12: 33,437,680		probably null	Het
Ubap2	G	T	4: 41,211,771	H63Q	probably damaging	Het
Vps13a	T	C	19: 16,655,216	N2592S	probably benign	Het
Xdh	G	A	17: 73,886,386	P1305L	probably benign	Het
Xrn1	G	A	9: 96,039,809	R1425K	probably benign	Het
Zfp418	G	A	7: 7,182,763	R575Q	possibly damaging	Het
Zfp608	T	A	18: 54,894,472	Q1424H	probably damaging	Het
Zfp839	C	A	12: 110,855,201	L150I	possibly damaging	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
R4908:Olfr843	UTSW	9	19248853	missense	probably benign	0.00
R5319:Olfr843	UTSW	9	19249033	missense	possibly damaging	0.60
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

Predicted Primers

PCR Primer
(F):5'- ACAACTGAGAGATGAGATCCGC -3'
(R):5'- TTGCTGTGATGGCCTATGAC -3'

Sequencing Primer
(F):5'- CAAGTGGAAAAGGCTTTATTCCGTCC -3'
(R):5'- ATGACCGTTACTTGGCCATAG -3'

Posted On

2015-11-11