Mutagenetix > Incidental Mutation

Incidental Mutation 'R5368:Or10ag56'

429457

Institutional Source

Beutler Lab

Gene Symbol

Or10ag56

Ensembl Gene

ENSMUSG00000083706

Gene Name

olfactory receptor family 10 subfamily AG member 56

Synonyms

Olfr1118, GA_x6K02T2Q125-48795705-48796673, Olfr1118-ps, MOR264-22

MMRRC Submission

043204-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R5368 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87139108-87140103 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 87139126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090717] [ENSMUST00000090717] [ENSMUST00000121296] [ENSMUST00000216396]

AlphaFold

A0A1L1STN9

Predicted Effect

probably null
Transcript: ENSMUST00000090717

SMART Domains

Protein: ENSMUSP00000132837
Gene: ENSMUSG00000070855

Domain	Start	End	E-Value	Type
Pfam:7tm_4	22	298	1.1e-53	PFAM
Pfam:7tm_1	32	281	1.1e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000090717

SMART Domains

Protein: ENSMUSP00000132837
Gene: ENSMUSG00000070855

Domain	Start	End	E-Value	Type
Pfam:7tm_4	22	298	1.1e-53	PFAM
Pfam:7tm_1	32	281	1.1e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120328

Predicted Effect

probably benign
Transcript: ENSMUST00000121296

SMART Domains

Protein: ENSMUSP00000144143
Gene: ENSMUSG00000083706

Domain	Start	End	E-Value	Type
Pfam:7tm_4	22	298	1.2e-51	PFAM
Pfam:7tm_1	32	281	7.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216396
AA Change: S18T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (61/63)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	A	7: 130,740,925 (GRCm39)	H97L	possibly damaging	Het
Abca9	T	A	11: 110,036,372 (GRCm39)	N579I	probably damaging	Het
Acbd3	A	T	1: 180,549,660 (GRCm39)		probably benign	Het
Ankrd50	A	T	3: 38,509,199 (GRCm39)	I1056N	probably damaging	Het
Ceacam18	T	C	7: 43,291,458 (GRCm39)	V300A	probably benign	Het
Cfap46	C	A	7: 139,207,389 (GRCm39)	R1843S	possibly damaging	Het
D430041D05Rik	A	G	2: 104,078,629 (GRCm39)	V1229A	probably damaging	Het
Dbx2	G	A	15: 95,538,522 (GRCm39)	S206L	probably benign	Het
Dnah11	A	T	12: 117,918,628 (GRCm39)	D1530E	probably damaging	Het
Ecm2	A	C	13: 49,674,419 (GRCm39)	T280P	probably benign	Het
Emc2	G	A	15: 43,375,207 (GRCm39)		probably null	Het
Epb42	C	T	2: 120,849,943 (GRCm39)	V689I	probably benign	Het
Fam114a1	T	A	5: 65,163,452 (GRCm39)	M209K	possibly damaging	Het
Fam117a	C	T	11: 95,266,459 (GRCm39)	S193F	probably damaging	Het
Foxp2	A	T	6: 15,377,913 (GRCm39)		probably benign	Het
Frmd6	T	A	12: 70,910,874 (GRCm39)	C19*	probably null	Het
Fyb1	A	G	15: 6,610,159 (GRCm39)		probably null	Het
Gata6	C	A	18: 11,063,059 (GRCm39)	H442Q	possibly damaging	Het
Gldc	A	G	19: 30,135,921 (GRCm39)	S160P	probably benign	Het
Gm3952	A	G	8: 129,472,455 (GRCm39)	S1626P	possibly damaging	Het
Gm9762	T	A	3: 78,873,742 (GRCm39)		noncoding transcript	Het
Gtpbp2	T	C	17: 46,477,230 (GRCm39)		probably benign	Het
Hgd	A	T	16: 37,410,113 (GRCm39)	T50S	probably benign	Het
Itpr1	C	T	6: 108,364,459 (GRCm39)	T22M	probably damaging	Het
Kif26b	G	A	1: 178,743,449 (GRCm39)	E1182K	probably damaging	Het
Kirrel3	A	G	9: 34,919,034 (GRCm39)	E230G	probably damaging	Het
Leng8	A	G	7: 4,142,987 (GRCm39)	Y88C	probably damaging	Het
Lpo	T	C	11: 87,711,895 (GRCm39)	D54G	possibly damaging	Het
Lypd2	G	T	15: 74,604,908 (GRCm39)	A29E	probably benign	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mical3	T	C	6: 120,936,434 (GRCm39)	Y1364C	probably damaging	Het
Mroh2b	A	G	15: 4,935,054 (GRCm39)	N163S	probably damaging	Het
Mtf1	G	A	4: 124,718,872 (GRCm39)	C295Y	probably damaging	Het
Nbn	T	A	4: 15,969,391 (GRCm39)	L212Q	probably damaging	Het
Obscn	A	T	11: 58,959,852 (GRCm39)		probably null	Het
Or4c110	A	G	2: 88,832,435 (GRCm39)	S66P	probably damaging	Het
Peli1	A	G	11: 21,098,389 (GRCm39)	T375A	probably damaging	Het
Picalm	T	C	7: 89,856,803 (GRCm39)	*611Q	probably null	Het
Plch1	G	T	3: 63,609,394 (GRCm39)	Q938K	possibly damaging	Het
Plxnb2	A	G	15: 89,043,796 (GRCm39)	V1352A	possibly damaging	Het
Pmepa1	G	A	2: 173,070,115 (GRCm39)	R147W	probably damaging	Het
Prdm16	T	G	4: 154,429,848 (GRCm39)	K373Q	probably damaging	Het
Qki	T	G	17: 10,457,964 (GRCm39)	E135A	probably damaging	Het
Rad50	T	C	11: 53,575,073 (GRCm39)	K556E	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Sin3a	T	A	9: 57,018,084 (GRCm39)	D834E	possibly damaging	Het
Smg8	G	A	11: 86,971,086 (GRCm39)	S895L	probably benign	Het
Sorl1	T	C	9: 41,890,686 (GRCm39)	I1944M	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tmprss7	A	T	16: 45,481,252 (GRCm39)	W645R	probably damaging	Het
Tns1	T	C	1: 73,980,176 (GRCm39)	M1111V	probably benign	Het
Ttn	A	C	2: 76,608,726 (GRCm39)	D17763E	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubr4	G	A	4: 139,124,839 (GRCm39)		probably benign	Het
Usp31	T	C	7: 121,260,588 (GRCm39)	H637R	probably damaging	Het
Vps50	A	C	6: 3,567,739 (GRCm39)	E545A	possibly damaging	Het
Wdfy3	G	T	5: 102,020,724 (GRCm39)	L2527M	probably damaging	Het
Wfdc2	T	C	2: 164,405,354 (GRCm39)	V85A	possibly damaging	Het

Other mutations in Or10ag56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Or10ag56	APN	2	87,139,925 (GRCm39)	missense	possibly damaging	0.95
IGL01458:Or10ag56	APN	2	87,139,826 (GRCm39)	missense	probably damaging	1.00
IGL02544:Or10ag56	APN	2	87,139,471 (GRCm39)	missense	possibly damaging	0.91
IGL02748:Or10ag56	APN	2	87,140,009 (GRCm39)	missense	probably damaging	1.00
IGL03077:Or10ag56	APN	2	87,140,056 (GRCm39)	makesense	probably null
R0411:Or10ag56	UTSW	2	87,139,402 (GRCm39)	missense	probably benign	0.07
R0525:Or10ag56	UTSW	2	87,139,693 (GRCm39)	missense	probably benign	0.10
R1703:Or10ag56	UTSW	2	87,139,754 (GRCm39)	missense	probably benign	0.00
R1750:Or10ag56	UTSW	2	87,139,196 (GRCm39)	missense	probably benign	0.02
R2005:Or10ag56	UTSW	2	87,139,792 (GRCm39)	missense	probably benign	0.24
R2090:Or10ag56	UTSW	2	87,139,762 (GRCm39)	missense	probably benign	0.02
R3846:Or10ag56	UTSW	2	87,139,526 (GRCm39)	missense	probably benign	0.15
R4011:Or10ag56	UTSW	2	87,139,555 (GRCm39)	missense	probably benign	0.03
R4077:Or10ag56	UTSW	2	87,139,208 (GRCm39)	splice site	probably null	0.42
R5132:Or10ag56	UTSW	2	87,139,282 (GRCm39)	missense	probably damaging	1.00
R7355:Or10ag56	UTSW	2	87,139,754 (GRCm39)	missense	probably benign	0.00
R7405:Or10ag56	UTSW	2	87,139,339 (GRCm39)	missense	probably benign	0.00
R7437:Or10ag56	UTSW	2	87,139,687 (GRCm39)	missense	probably benign
R7554:Or10ag56	UTSW	2	87,139,349 (GRCm39)	missense	probably damaging	1.00
R7609:Or10ag56	UTSW	2	87,139,853 (GRCm39)	missense	probably benign	0.01
R8156:Or10ag56	UTSW	2	87,139,318 (GRCm39)	missense	probably damaging	0.97
R8482:Or10ag56	UTSW	2	87,139,726 (GRCm39)	missense	probably benign	0.07
R8558:Or10ag56	UTSW	2	87,139,583 (GRCm39)	missense	probably benign	0.11
R9136:Or10ag56	UTSW	2	87,139,219 (GRCm39)	missense	possibly damaging	0.95
R9229:Or10ag56	UTSW	2	87,139,165 (GRCm39)	missense	probably benign	0.00
R9326:Or10ag56	UTSW	2	87,139,730 (GRCm39)	missense	probably benign	0.37
RF010:Or10ag56	UTSW	2	87,139,184 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GTGTCAACTCTTCAAAGAATCTGAG -3'
(R):5'- GCATTCTTGGAATAGTAGCTGTTAC -3'

Sequencing Primer
(F):5'- AGAATCTGAGTTAAACAAATGGGAAC -3'
(R):5'- AGAGCAGGGTCAGTTTTTG -3'

Posted On

2016-09-06