Mutagenetix > Incidental Mutation

Incidental Mutation 'R1484:Olfr1216'

163284

Institutional Source

Beutler Lab

Gene Symbol

Olfr1216

Ensembl Gene

ENSMUSG00000075107

Gene Name

olfactory receptor 1216

Synonyms

GA_x6K02T2Q125-50494588-50493653, MOR233-9

MMRRC Submission

039537-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R1484 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89007563-89018340 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 89013369 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 232 (R232*)

Ref Sequence

ENSEMBL: ENSMUSP00000149441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099800] [ENSMUST00000216000] [ENSMUST00000217000]

AlphaFold

Q7TR05

Predicted Effect

probably null
Transcript: ENSMUST00000099800
AA Change: R232*

SMART Domains

Protein: ENSMUSP00000097388
Gene: ENSMUSG00000075107
AA Change: R232*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.8e-46	PFAM
Pfam:7tm_1	39	286	4.2e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000216000
AA Change: R232*

Predicted Effect

probably null
Transcript: ENSMUST00000217000
AA Change: R232*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218738

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

97% (85/88)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	T	5: 26,479,778		noncoding transcript	Het
Acvr1	A	T	2: 58,479,889	V36E	probably damaging	Het
Aldh4a1	A	G	4: 139,643,447	I414V	probably benign	Het
Alox5	C	T	6: 116,454,167	C100Y	probably damaging	Het
Ano5	T	A	7: 51,566,320	D348E	probably damaging	Het
Arhgap30	G	A	1: 171,403,271	V199M	probably damaging	Het
Arl13b	T	A	16: 62,806,636	Q234L	probably benign	Het
Atxn1	C	A	13: 45,557,576	E627*	probably null	Het
Bend3	T	C	10: 43,510,201	F197L	probably benign	Het
Brca1	A	T	11: 101,529,812	V190E	possibly damaging	Het
Brpf1	T	C	6: 113,315,135	W381R	probably damaging	Het
Brwd1	A	C	16: 96,028,291		probably null	Het
C1s2	T	C	6: 124,625,645	I530V	possibly damaging	Het
C2cd3	C	T	7: 100,440,190	R1638W	probably damaging	Het
Capns1	T	A	7: 30,194,086		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cep126	G	A	9: 8,100,553	T660I	possibly damaging	Het
Cep295	A	C	9: 15,334,784	I744R	probably damaging	Het
Chd3	T	C	11: 69,359,899	E668G	probably benign	Het
Chek2	A	G	5: 110,848,687	T172A	probably damaging	Het
Col6a4	A	G	9: 106,013,302		probably null	Het
Coq3	G	A	4: 21,900,291	V173I	probably benign	Het
Cyp4x1	A	T	4: 115,112,901	I343N	probably damaging	Het
D430042O09Rik	C	A	7: 125,816,571		probably benign	Het
Dnah7b	T	A	1: 46,137,543	D774E	probably benign	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
Esrra	T	C	19: 6,912,829	Y209C	probably damaging	Het
Gpr149	A	T	3: 62,595,171	D421E	probably benign	Het
Gpr15	T	C	16: 58,718,574	N51D	probably damaging	Het
Gpr156	T	C	16: 37,992,196	V298A	probably damaging	Het
Hmcn2	G	A	2: 31,346,495	G350D	probably damaging	Het
Ifih1	A	T	2: 62,610,558	N421K	probably benign	Het
Ilvbl	C	A	10: 78,576,730	T95K	probably damaging	Het
Itgb4	T	A	11: 115,999,799	D1104E	probably benign	Het
Lipf	A	T	19: 33,964,780	M37L	probably benign	Het
Lyst	T	A	13: 13,678,190	N2258K	probably benign	Het
Moxd1	A	G	10: 24,223,860	Y86C	probably damaging	Het
Muc5ac	T	C	7: 141,813,892		probably null	Het
Myo16	G	A	8: 10,560,145	R1162H	probably damaging	Het
Myo5c	A	T	9: 75,300,810	N1609Y	probably damaging	Het
Nbeal1	T	C	1: 60,200,939	F155L	probably damaging	Het
Nek4	A	T	14: 30,982,333	M602L	possibly damaging	Het
Nek9	A	G	12: 85,301,848	S971P	probably damaging	Het
Nfya	A	T	17: 48,393,542		probably benign	Het
Nrxn3	A	T	12: 89,254,777	N442I	probably damaging	Het
Nupl2	A	C	5: 24,178,077	K200N	probably benign	Het
Olfr385	T	A	11: 73,589,361	I126L	possibly damaging	Het
Olfr850	G	A	9: 19,478,127	T38I	probably damaging	Het
Pcdh15	T	A	10: 74,291,001	I304N	probably damaging	Het
Pigo	G	C	4: 43,024,779	P107A	probably damaging	Het
Plce1	C	T	19: 38,705,339	Q769*	probably null	Het
Plin2	C	T	4: 86,657,244	R356H	probably benign	Het
Ppp1r9a	G	T	6: 5,113,712	E739*	probably null	Het
Ppp3cc	G	T	14: 70,240,948	N268K	probably damaging	Het
Prkag3	T	A	1: 74,740,760	D472V	probably damaging	Het
Ptch2	A	T	4: 117,110,849	D846V	probably damaging	Het
Rhob	A	T	12: 8,499,388	M82K	probably damaging	Het
Rps6kc1	T	A	1: 190,799,475	R777W	possibly damaging	Het
Sap130	T	A	18: 31,711,327	V850E	probably damaging	Het
Sema3a	T	G	5: 13,473,440	N125K	probably damaging	Het
Sema5a	A	G	15: 32,460,285	D64G	probably damaging	Het
Sgo2b	T	A	8: 63,931,473	D163V	possibly damaging	Het
Slc15a1	A	T	14: 121,491,239	Y31*	probably null	Het
Smchd1	A	T	17: 71,378,257	M1392K	probably benign	Het
Sobp	T	A	10: 43,160,831	N37I	probably damaging	Het
Spock3	G	T	8: 63,220,705	C142F	probably damaging	Het
Stx6	A	C	1: 155,177,904	S86R	probably benign	Het
Sult2a4	C	A	7: 13,909,801	M280I	probably benign	Het
Synm	A	T	7: 67,736,332	D527E	probably damaging	Het
Tax1bp1	C	T	6: 52,733,320	R195W	probably damaging	Het
Themis2	A	T	4: 132,792,485	N76K	possibly damaging	Het
Tmem8b	A	G	4: 43,690,234	T890A	probably benign	Het
Traf7	T	A	17: 24,511,811	H366L	possibly damaging	Het
Trim30c	A	T	7: 104,383,252	V289D	probably benign	Het
Tsr1	T	A	11: 74,902,088	D407E	probably damaging	Het
Ubap2	G	T	4: 41,235,593	A33E	probably damaging	Het
Unc13d	C	A	11: 116,073,875	R255L	possibly damaging	Het
Ush2a	G	T	1: 188,810,337	G3367*	probably null	Het
Vmn1r229	T	C	17: 20,814,529	L12P	probably damaging	Het
Vmn2r27	C	A	6: 124,200,515	G510V	probably damaging	Het
Vps4b	T	C	1: 106,779,982	E257G	probably damaging	Het
Vps72	T	C	3: 95,119,151	S136P	probably damaging	Het
Wdr36	T	C	18: 32,843,885	I181T	possibly damaging	Het
Wdr63	T	C	3: 146,097,241	D65G	probably benign	Het
Wfikkn1	C	T	17: 25,877,791	A520T	probably benign	Het

Other mutations in Olfr1216

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Olfr1216	APN	2	89013924	missense	probably benign	0.22
IGL00895:Olfr1216	APN	2	89013609	missense	probably benign	0.13
IGL01634:Olfr1216	APN	2	89013444	missense	probably damaging	0.99
IGL01844:Olfr1216	APN	2	89013470	missense	possibly damaging	0.95
IGL02036:Olfr1216	APN	2	89013479	missense	probably benign	0.00
IGL02102:Olfr1216	APN	2	89013126	utr 3 prime	probably benign
IGL02194:Olfr1216	APN	2	89013887	missense	probably damaging	1.00
IGL02483:Olfr1216	APN	2	89013203	missense	probably damaging	1.00
IGL02745:Olfr1216	APN	2	89013888	missense	probably damaging	1.00
IGL02829:Olfr1216	APN	2	89013677	missense	probably damaging	1.00
IGL03113:Olfr1216	APN	2	89014035	missense	probably damaging	1.00
IGL03324:Olfr1216	APN	2	89013559	nonsense	probably null
R0102:Olfr1216	UTSW	2	89013671	missense	probably damaging	1.00
R0304:Olfr1216	UTSW	2	89013288	missense	probably damaging	1.00
R1184:Olfr1216	UTSW	2	89013713	missense	probably damaging	0.99
R1560:Olfr1216	UTSW	2	89013206	missense	probably damaging	1.00
R1823:Olfr1216	UTSW	2	89013378	missense	probably benign	0.02
R1911:Olfr1216	UTSW	2	89013221	missense	probably damaging	1.00
R2245:Olfr1216	UTSW	2	89013149	missense	probably benign
R2331:Olfr1216	UTSW	2	89013921	missense	probably benign
R3859:Olfr1216	UTSW	2	89014061	start codon destroyed	probably null	1.00
R4579:Olfr1216	UTSW	2	89013144	missense	probably benign
R5022:Olfr1216	UTSW	2	89014043	missense	probably damaging	0.96
R5353:Olfr1216	UTSW	2	89013755	missense	probably benign	0.00
R5894:Olfr1216	UTSW	2	89014055	missense	probably damaging	1.00
R6240:Olfr1216	UTSW	2	89013626	missense	probably benign	0.03
R7101:Olfr1216	UTSW	2	89013980	missense	possibly damaging	0.90
R7652:Olfr1216	UTSW	2	89013549	missense	probably benign	0.01
R8243:Olfr1216	UTSW	2	89013707	missense	probably benign	0.39
R8752:Olfr1216	UTSW	2	89013887	missense	probably damaging	1.00
R9062:Olfr1216	UTSW	2	89013204	missense	probably damaging	1.00
R9472:Olfr1216	UTSW	2	89013173	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ACTGATTGTGAGCATTTGTAGCCTCTC -3'
(R):5'- TTCCATTGCTGAAGCTGGCCTG -3'

Sequencing Primer
(F):5'- CCAATAGAGCAAAGTGAGCTTTC -3'
(R):5'- CTGCACGGACACTCATATATTTG -3'

Posted On

2014-03-28