Mutagenetix > Incidental Mutations

Incidental Mutation 'R0057:Olfr1022'

17271

Institutional Source

Beutler Lab

Gene Symbol

Olfr1022

Ensembl Gene

ENSMUSG00000057761

Gene Name

olfactory receptor 1022

Synonyms

GA_x6K02T2Q125-47347069-47348016, MOR196-1

MMRRC Submission

038351-MU

Accession Numbers

Ncbi RefSeq: NM_146589.2; MGI: 3030856

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0057 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

85868594-85869541 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 85869253 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 220 (Y220*)

Ref Sequence

ENSEMBL: ENSMUSP00000059312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054736] [ENSMUST00000121914]

Predicted Effect

probably null
Transcript: ENSMUST00000054736
AA Change: Y220*

SMART Domains

Protein: ENSMUSP00000059312
Gene: ENSMUSG00000057761
AA Change: Y220*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	312	4.8e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	304	8e-6	PFAM
Pfam:7tm_1	41	290	9.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121914

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 90.1%
3x: 87.8%
10x: 82.7%
20x: 75.7%

Validation Efficiency

89% (65/73)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,941,559	F1309L	possibly damaging	Het
Abcc6	C	T	7: 46,020,143	A163T	probably benign	Het
Adam23	T	A	1: 63,570,919	H693Q	probably damaging	Het
Afg3l2	A	G	18: 67,423,086	F392L	probably damaging	Het
Ak9	A	T	10: 41,392,728	T1055S	probably benign	Het
Ap5z1	T	C	5: 142,470,389		probably benign	Het
Arhgef10l	A	G	4: 140,611,218		probably benign	Het
Bloc1s6	T	A	2: 122,744,221		probably benign	Het
Caskin1	A	G	17: 24,504,896	N886S	probably damaging	Het
Celsr1	A	C	15: 86,030,762	S1003R	probably benign	Het
Ctse	G	T	1: 131,663,371	D97Y	probably damaging	Het
Cux1	T	A	5: 136,256,282	I505F	probably damaging	Het
Dcaf11	T	C	14: 55,569,310	V490A	probably benign	Het
Dscam	A	C	16: 96,673,736	W1209G	probably damaging	Het
Emc8	A	G	8: 120,659,083		probably benign	Het
Entpd6	A	G	2: 150,758,828	K152R	probably null	Het
Eps8l2	C	T	7: 141,342,971	T49I	probably benign	Het
Fuk	C	T	8: 110,893,768		probably benign	Het
Gm12251	C	A	11: 58,393,041		probably benign	Het
Gna11	A	G	10: 81,530,940	M312T	probably benign	Het
Hacd2	T	A	16: 35,075,627	V105D	probably damaging	Het
Il17a	T	A	1: 20,733,657	I92N	probably damaging	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Irak4	A	C	15: 94,553,872	R115S	probably benign	Het
Jarid2	C	T	13: 44,884,856	H77Y	probably damaging	Het
Kcnk6	A	T	7: 29,225,663	L176Q	probably damaging	Het
Kmt2b	A	T	7: 30,576,792		probably benign	Het
Kremen2	A	C	17: 23,743,228	I210S	possibly damaging	Het
Ldah	T	C	12: 8,238,432		probably benign	Het
Lgals9	A	T	11: 78,971,436		probably benign	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Msh4	C	T	3: 153,869,681	A686T	probably benign	Het
Mycbp2	T	C	14: 103,152,142	N3411D	probably damaging	Het
Myt1l	A	G	12: 29,842,612		probably null	Het
Nmbr	A	G	10: 14,760,524	N79S	probably damaging	Het
Npsr1	A	T	9: 24,300,427	I84F	probably damaging	Het
Olfr1346	T	C	7: 6,474,680	L190P	probably damaging	Het
Olfr648	G	T	7: 104,180,329	H26Q	probably benign	Het
Prlr	A	G	15: 10,328,423	Y328C	probably damaging	Het
Rasal3	A	G	17: 32,391,383	S977P	probably benign	Het
Ros1	C	T	10: 52,180,191	V68I	probably benign	Het
RP24-170A20.3	T	A	10: 39,891,097		probably benign	Het
Shmt2	G	A	10: 127,521,048	T31M	possibly damaging	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Snrnp200	C	G	2: 127,237,907	L1899V	probably damaging	Het
Snrnp48	T	A	13: 38,216,380	C154*	probably null	Het
Tdrd6	G	A	17: 43,617,161		probably benign	Het
Tmem175	C	T	5: 108,639,562	H92Y	probably damaging	Het
Tom1l1	G	A	11: 90,685,149		probably benign	Het
Top3a	C	T	11: 60,740,684	A951T	probably benign	Het
Tram2	C	T	1: 21,006,154	R184Q	probably damaging	Het
Trpc4ap	T	C	2: 155,640,486	E528G	possibly damaging	Het
Vwa7	G	A	17: 35,024,547	S710N	possibly damaging	Het
Zfa-ps	A	T	10: 52,545,106		noncoding transcript	Het
Zfp770	T	A	2: 114,197,232	R119*	probably null	Het

Other mutations in Olfr1022

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02701:Olfr1022	APN	2	85869458	missense	probably benign	0.22
IGL03265:Olfr1022	APN	2	85869150	missense	possibly damaging	0.80
PIT4366001:Olfr1022	UTSW	2	85868882	missense	probably damaging	1.00
R0057:Olfr1022	UTSW	2	85869253	nonsense	probably null
R0554:Olfr1022	UTSW	2	85869519	missense	probably benign	0.00
R3873:Olfr1022	UTSW	2	85868962	nonsense	probably null
R3913:Olfr1022	UTSW	2	85868771	missense	probably damaging	1.00
R4698:Olfr1022	UTSW	2	85869252	missense	possibly damaging	0.90
R5628:Olfr1022	UTSW	2	85868805	missense	probably damaging	0.99
R6467:Olfr1022	UTSW	2	85869370	nonsense	probably null
R6947:Olfr1022	UTSW	2	85868927	missense	probably benign	0.01
R7092:Olfr1022	UTSW	2	85868607	missense	probably damaging	1.00
R7351:Olfr1022	UTSW	2	85864071	unclassified	probably benign
R7574:Olfr1022	UTSW	2	85869006	missense	probably benign	0.03

Protein Function and Prediction

Olfr1022 is a member of the olfactory receptor gene family; the function of Olfr1022 is unknown.

Posted On

2013-01-20

Science Writer

Anne Murray