Mutagenetix > Incidental Mutation

Incidental Mutation 'R7355:Or10ag56'

570853

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

045441-MU

Accession Numbers

Essential gene?

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

Stock #

R7355 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87139108-87140103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87139754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 207 (V207A)

Ref Sequence

ENSEMBL: ENSMUSP00000144143 (fasta)

Gene Model

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

AlphaFold

A0A1L1STN9

Predicted Effect

probably benign
Transcript: ENSMUST00000090717
AA Change: V207A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000132837
Gene: ENSMUSG00000070855
AA Change: V207A

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
AA Change: V207A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000144143
Gene: ENSMUSG00000083706
AA Change: V207A

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: V227A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0782

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (72/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,486,621 (GRCm39)	R1469W	probably benign	Het
Acad10	G	T	5: 121,768,780 (GRCm39)	Y728*	probably null	Het
Adamts17	T	C	7: 66,725,052 (GRCm39)	V160A		Het
Astn1	A	T	1: 158,491,846 (GRCm39)		probably null	Het
Atp8a2	T	C	14: 60,282,453 (GRCm39)	K104E	possibly damaging	Het
Axl	T	C	7: 25,473,531 (GRCm39)	Y365C	probably benign	Het
Btbd16	A	T	7: 130,423,173 (GRCm39)	Y409F	probably benign	Het
Caln1	A	T	5: 130,443,732 (GRCm39)	T22S	probably benign	Het
Camk1	C	A	6: 113,315,307 (GRCm39)	G164C	probably damaging	Het
Cd96	T	C	16: 45,861,655 (GRCm39)	T512A	possibly damaging	Het
Ceacam5	A	G	7: 17,481,312 (GRCm39)	D353G	probably damaging	Het
Cep162	C	A	9: 87,136,008 (GRCm39)	E12*	probably null	Het
Cfh	A	T	1: 140,064,553 (GRCm39)	V365E	probably damaging	Het
Chd7	A	G	4: 8,752,196 (GRCm39)	H231R	unknown	Het
Cntnap3	T	C	13: 64,919,776 (GRCm39)	T694A	probably benign	Het
Colq	C	A	14: 31,267,066 (GRCm39)	G158V	probably damaging	Het
Ctif	G	A	18: 75,743,756 (GRCm39)	H139Y	probably damaging	Het
D630003M21Rik	A	T	2: 158,042,144 (GRCm39)	F934Y	probably damaging	Het
Dclre1a	T	A	19: 56,535,567 (GRCm39)	T6S	possibly damaging	Het
Dnmbp	T	C	19: 43,890,180 (GRCm39)	D529G	probably benign	Het
Fat2	T	A	11: 55,147,377 (GRCm39)	Q3955L	probably benign	Het
Gjd4	A	G	18: 9,280,860 (GRCm39)	S73P	probably damaging	Het
Gm19410	C	A	8: 36,274,226 (GRCm39)	Q1460K	probably benign	Het
Golga5	A	T	12: 102,438,494 (GRCm39)	I70F	possibly damaging	Het
Gon4l	T	A	3: 88,770,827 (GRCm39)	I502N	probably damaging	Het
Gtf2ird2	C	G	5: 134,245,491 (GRCm39)	A583G	probably benign	Het
Hectd1	A	C	12: 51,838,081 (GRCm39)	W694G	possibly damaging	Het
Ifit1bl2	C	T	19: 34,597,061 (GRCm39)	G185D	probably damaging	Het
Igfbp6	G	A	15: 102,056,375 (GRCm39)	A145T	probably benign	Het
Junb	C	T	8: 85,705,013 (GRCm39)	A16T	probably benign	Het
Kcnh4	C	T	11: 100,643,269 (GRCm39)	V333I	possibly damaging	Het
Ly6c1	T	C	15: 74,919,256 (GRCm39)	T45A	possibly damaging	Het
Mon2	T	A	10: 122,845,421 (GRCm39)	Q1428L	probably benign	Het
Nfatc2ip	C	T	7: 125,986,783 (GRCm39)		probably null	Het
Olfml3	C	A	3: 103,643,395 (GRCm39)	G329W	probably damaging	Het
Or10al2	A	G	17: 37,983,301 (GRCm39)	Y129C	probably benign	Het
Or6d15	T	A	6: 116,559,916 (GRCm39)		probably benign	Het
Or9g3	C	T	2: 85,584,023 (GRCm39)	P106L	probably benign	Het
Pcsk7	A	G	9: 45,820,672 (GRCm39)	M35V	probably benign	Het
Phf14	A	G	6: 12,081,006 (GRCm39)	N921S	probably benign	Het
Pla2g4e	G	A	2: 120,011,982 (GRCm39)	S396F	possibly damaging	Het
Ppp4r4	A	T	12: 103,570,841 (GRCm39)	K766*	probably null	Het
Pprc1	T	C	19: 46,053,785 (GRCm39)	V1105A	unknown	Het
Prdm9	T	G	17: 15,765,497 (GRCm39)	N428H	probably benign	Het
Prkcg	C	T	7: 3,372,025 (GRCm39)	T497I	possibly damaging	Het
Prkcz	A	G	4: 155,441,953 (GRCm39)	W60R	probably damaging	Het
Ptprn2	T	C	12: 116,822,571 (GRCm39)	F217L	probably benign	Het
Pum2	T	A	12: 8,763,906 (GRCm39)	Y283*	probably null	Het
Rest	A	G	5: 77,415,875 (GRCm39)	M30V	probably benign	Het
Rfxank	C	T	8: 70,587,957 (GRCm39)	R150H	probably damaging	Het
Ros1	T	A	10: 52,042,175 (GRCm39)	Q250L	probably damaging	Het
Sgk2	A	G	2: 162,854,987 (GRCm39)	D366G	probably benign	Het
Shoc1	T	C	4: 59,076,155 (GRCm39)	D596G	probably benign	Het
Siglec1	A	T	2: 130,922,371 (GRCm39)	L568Q	probably benign	Het
Slain1	AT	ATT	14: 103,940,012 (GRCm39)		probably null	Het
Slc10a5	A	T	3: 10,399,375 (GRCm39)	Y428*	probably null	Het
Slc25a54	T	C	3: 109,010,085 (GRCm39)	W195R	probably damaging	Het
Slf1	A	G	13: 77,239,422 (GRCm39)	I414T	probably damaging	Het
Snx4	C	T	16: 33,087,236 (GRCm39)	P127L	probably damaging	Het
Spdl1	A	T	11: 34,714,191 (GRCm39)	L166H	not run	Het
Tapt1	C	T	5: 44,334,459 (GRCm39)	V511I	probably benign	Het
Tbata	A	G	10: 61,010,099 (GRCm39)		probably benign	Het
Tbx4	T	A	11: 85,802,835 (GRCm39)	V264E	probably damaging	Het
Tecta	A	T	9: 42,278,438 (GRCm39)	Y1023*	probably null	Het
Thop1	A	G	10: 80,911,465 (GRCm39)	D117G	probably damaging	Het
Trip12	A	G	1: 84,792,604 (GRCm39)	L13P	probably damaging	Het
Tut7	T	C	13: 59,969,616 (GRCm39)	N93S	probably benign	Het
Unc13b	T	A	4: 43,237,754 (GRCm39)	V637E	probably damaging	Het
Vinac1	G	T	2: 128,879,149 (GRCm39)	Q926K	unknown	Het
Yipf3	T	A	17: 46,561,566 (GRCm39)	M168K	probably damaging	Het
Zfp119a	A	T	17: 56,173,287 (GRCm39)	C185*	probably null	Het
Zfyve21	A	T	12: 111,791,485 (GRCm39)	I157F	possibly damaging	Het
Zfyve26	A	T	12: 79,286,828 (GRCm39)	D2253E	probably 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
R5368:Or10ag56	UTSW	2	87,139,126 (GRCm39)	splice site	probably null
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'- GTAGCTGCCTCTTGGATCAG -3'
(R):5'- AGAAAAGAGATAGCAGCTTCCC -3'

Sequencing Primer
(F):5'- GATTCCTGTACAAATTGGGCAGACC -3'
(R):5'- GAGATAGCAGCTTCCCCATTC -3'

Posted On

2019-09-13