Mutagenetix > Incidental Mutation

Incidental Mutation 'R3002:Olfr446'

257274

Institutional Source

Beutler Lab

Gene Symbol

Olfr446

Ensembl Gene

ENSMUSG00000073111

Gene Name

olfactory receptor 446

Synonyms

GA_x6K02T2P3E9-4632269-4631343, MOR261-12

MMRRC Submission

040531-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R3002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42921377-42931141 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42927954 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 241 (H241R)

Ref Sequence

ENSEMBL: ENSMUSP00000150255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101461] [ENSMUST00000215369] [ENSMUST00000215686] [ENSMUST00000216199]

AlphaFold

Q8VEV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000101461
AA Change: H241R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099005
Gene: ENSMUSG00000073111
AA Change: H241R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	1.7e-62	PFAM
Pfam:7TM_GPCR_Srsx	32	282	1.7e-5	PFAM
Pfam:7tm_1	38	287	3.2e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215369
AA Change: H241R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215686
AA Change: H241R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216199
AA Change: H241R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6486

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (41/41)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 86,046,080	W40R	possibly damaging	Het
A2m	A	G	6: 121,661,447	S873G	possibly damaging	Het
Acd	C	T	8: 105,700,281		probably null	Het
Acly	T	C	11: 100,504,227	K469E	possibly damaging	Het
Adcy6	T	C	15: 98,596,660	T767A	probably benign	Het
Bnip3	T	C	7: 138,894,701	I93V	probably benign	Het
Casq2	A	G	3: 102,145,201	D269G	probably damaging	Het
Ccdc180	A	G	4: 45,899,988	D182G	probably benign	Het
Cep112	A	G	11: 108,440,503	E178G	probably damaging	Het
Chrd	T	G	16: 20,737,445	Y585*	probably null	Het
Cnksr3	T	C	10: 7,152,856		probably benign	Het
Csmd1	A	G	8: 16,196,170	F1072L	probably damaging	Het
Dnaic2	C	T	11: 114,750,471	P374L	probably damaging	Het
Eif4g1	T	A	16: 20,692,384	F1289I	probably damaging	Het
Eprs	T	C	1: 185,424,391		probably null	Het
Fam105a	T	C	15: 27,664,706	T55A	probably benign	Het
Fasn	T	C	11: 120,809,845	D2114G	probably benign	Het
Fbxl17	T	A	17: 63,225,077	E590D	probably damaging	Het
Flnb	G	T	14: 7,907,162	R1245L	probably benign	Het
Folh1	A	C	7: 86,723,311	I678M	probably damaging	Het
Frrs1l	G	T	4: 56,990,139		probably benign	Het
Hal	G	A	10: 93,507,519	A542T	probably damaging	Het
Hs3st2	T	A	7: 121,500,687	M252K	probably damaging	Het
Il27ra	G	T	8: 84,032,031	S499*	probably null	Het
Klhdc1	T	A	12: 69,256,209	V173D	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTC	7: 118,852,449		probably benign	Het
Lct	T	C	1: 128,304,226	M629V	probably damaging	Het
Lnx2	A	G	5: 147,019,015	V657A	probably benign	Het
Lrig1	G	A	6: 94,608,777	S810L	probably damaging	Het
Lyst	A	T	13: 13,696,705	M2676L	probably benign	Het
Mindy4	T	A	6: 55,218,364	S188T	probably benign	Het
Mrgprb3	C	T	7: 48,643,484	M106I	probably benign	Het
Ncam1	A	G	9: 49,557,226	I311T	probably damaging	Het
Ndufa8	T	A	2: 36,036,559	E155V	possibly damaging	Het
Nr4a1	A	G	15: 101,270,972		probably null	Het
Orc3	T	C	4: 34,571,790	T660A	probably benign	Het
Otub2	T	C	12: 103,404,277	S273P	probably damaging	Het
Phf11c	A	G	14: 59,384,840	L241P	probably damaging	Het
Pik3ca	T	A	3: 32,462,797	I1058N	probably damaging	Het
Pkd2l1	A	G	19: 44,155,557	F359S	possibly damaging	Het
Plxnc1	A	T	10: 94,793,218	F1565I	probably damaging	Het
Polr1a	A	G	6: 71,913,016	N73S	probably benign	Het
Polr1a	T	A	6: 71,965,644	V1156E	probably benign	Het
Pon2	A	G	6: 5,268,976		probably null	Het
Ptcd1	G	A	5: 145,159,576	L236F	probably damaging	Het
Rgl2	A	G	17: 33,932,605	I208V	probably benign	Het
Rhox2e	C	A	X: 37,530,863	P69Q	probably damaging	Het
Rptor	G	A	11: 119,872,371	R927Q	possibly damaging	Het
Sec14l5	A	G	16: 5,171,882	Y230C	probably damaging	Het
Sele	G	T	1: 164,053,571	G447C	probably damaging	Het
Slc17a1	G	A	13: 23,878,581		probably null	Het
Slc2a4	A	T	11: 69,945,925	Y159*	probably null	Het
Slitrk5	A	G	14: 111,679,582	K213E	probably damaging	Het
Tdrd1	C	A	19: 56,861,750	Y981*	probably null	Het
Tex15	T	C	8: 33,574,528	Y1329H	probably benign	Het
Tgif2	C	G	2: 156,844,194	S2W	probably damaging	Het
Thoc5	A	G	11: 4,928,688	M620V	probably benign	Het
Tmeff2	C	T	1: 51,181,835	A323V	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem68	A	C	4: 3,569,588	L34W	probably damaging	Het
Tmtc4	A	T	14: 122,932,818		probably null	Het
Trpm2	A	T	10: 77,930,534		probably null	Het
Tyk2	C	A	9: 21,109,321	R938L	probably benign	Het
Usp33	A	T	3: 152,357,942	T18S	probably damaging	Het
V1rd19	A	T	7: 24,003,885	I259F	probably benign	Het
Vmn2r24	A	C	6: 123,804,272	Q479P	probably benign	Het
Vmn2r98	A	G	17: 19,065,863	M208V	probably benign	Het
Wfdc6a	C	T	2: 164,580,305	V125I	probably benign	Het
Zcchc11	G	A	4: 108,512,928	E714K	probably damaging	Het
Zkscan17	A	G	11: 59,487,251	C369R	probably damaging	Het

Other mutations in Olfr446

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02947:Olfr446	APN	6	42927896	missense	probably benign	0.24
IGL03164:Olfr446	APN	6	42928130	nonsense	probably null
PIT4519001:Olfr446	UTSW	6	42927644	missense	probably damaging	1.00
R1760:Olfr446	UTSW	6	42927497	missense	possibly damaging	0.90
R1883:Olfr446	UTSW	6	42927830	missense	probably damaging	0.99
R1884:Olfr446	UTSW	6	42927830	missense	probably damaging	0.99
R2180:Olfr446	UTSW	6	42927525	missense	probably benign	0.14
R3001:Olfr446	UTSW	6	42927954	missense	probably damaging	1.00
R4435:Olfr446	UTSW	6	42928089	missense	probably damaging	1.00
R4544:Olfr446	UTSW	6	42927414	missense	probably damaging	1.00
R4546:Olfr446	UTSW	6	42927414	missense	probably damaging	1.00
R5009:Olfr446	UTSW	6	42927433	missense	probably damaging	1.00
R5236:Olfr446	UTSW	6	42927781	missense	probably benign	0.04
R5290:Olfr446	UTSW	6	42928038	missense	probably damaging	0.98
R5297:Olfr446	UTSW	6	42927437	missense	probably benign	0.17
R7371:Olfr446	UTSW	6	42927535	nonsense	probably null
R9308:Olfr446	UTSW	6	42927815	missense	probably benign	0.14
R9364:Olfr446	UTSW	6	42927600	missense	probably damaging	1.00
R9404:Olfr446	UTSW	6	42927816	missense	probably benign	0.14
X0065:Olfr446	UTSW	6	42928056	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATCACGCTCATTCTAAGACTCC -3'
(R):5'- AGAACTCGTCTCAAGGCACC -3'

Sequencing Primer
(F):5'- TTCTGTGGGCCACAAAAAGTC -3'
(R):5'- GAACTCGTCTCAAGGCACCTTTTAC -3'

Posted On

2015-01-11