Mutagenetix > Incidental Mutation

Incidental Mutation 'R0411:Or10ag56'

36637

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

038613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R0411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87139108-87140103 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87139402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 90 (T90A)

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: T90A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000132837
Gene: ENSMUSG00000070855
AA Change: T90A

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: T90A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000144143
Gene: ENSMUSG00000083706
AA Change: T90A

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: T110A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.0931

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (66/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,053,834 (GRCm39)		probably benign	Het
6030469F06Rik	A	T	12: 31,234,730 (GRCm39)		noncoding transcript	Het
Acad11	T	C	9: 103,993,495 (GRCm39)	F541L	probably damaging	Het
Acin1	G	T	14: 54,884,231 (GRCm39)	R92S	probably damaging	Het
Appl1	A	G	14: 26,662,213 (GRCm39)	S490P	probably benign	Het
Aqp9	C	A	9: 71,037,726 (GRCm39)	V184L	probably benign	Het
Arih1	A	T	9: 59,393,266 (GRCm39)	I122N	possibly damaging	Het
Bmi1	T	C	2: 18,687,983 (GRCm39)		probably benign	Het
Bmpr1a	G	A	14: 34,137,834 (GRCm39)	T391I	possibly damaging	Het
Cacna1s	A	G	1: 136,041,041 (GRCm39)	K1256E	probably damaging	Het
Cacng3	C	T	7: 122,367,795 (GRCm39)	P225L	probably damaging	Het
Cd101	A	T	3: 100,925,843 (GRCm39)		probably null	Het
Cd55	A	G	1: 130,390,294 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,928,016 (GRCm39)	I258T	probably damaging	Het
Cfap251	C	T	5: 123,428,117 (GRCm39)	T538M	probably damaging	Het
Cma2	A	G	14: 56,211,135 (GRCm39)		probably benign	Het
Ddost	T	A	4: 138,036,964 (GRCm39)	S176T	probably benign	Het
Ddx19b	A	T	8: 111,750,596 (GRCm39)		probably null	Het
Dmxl2	A	G	9: 54,286,223 (GRCm39)	I2681T	probably damaging	Het
Ern1	C	T	11: 106,289,412 (GRCm39)	E964K	probably benign	Het
Exoc1l	G	T	5: 76,648,334 (GRCm39)	V47L	possibly damaging	Het
Galntl5	C	T	5: 25,425,172 (GRCm39)	R430C	probably benign	Het
Gga3	A	G	11: 115,478,259 (GRCm39)	L511P	probably damaging	Het
Gria2	C	T	3: 80,618,165 (GRCm39)		probably benign	Het
Hmbs	A	T	9: 44,252,949 (GRCm39)	L28*	probably null	Het
Iffo2	A	G	4: 139,330,532 (GRCm39)	E220G	probably damaging	Het
Ifi30	A	G	8: 71,217,562 (GRCm39)		probably benign	Het
Irf2	T	A	8: 47,299,096 (GRCm39)	C297S	probably benign	Het
Izumo4	T	C	10: 80,538,918 (GRCm39)	Y94H	probably damaging	Het
Klhdc9	A	G	1: 171,187,353 (GRCm39)	V215A	probably benign	Het
Kmt2a	T	C	9: 44,731,261 (GRCm39)		probably benign	Het
Kmt2c	A	T	5: 25,580,955 (GRCm39)	C513S	probably damaging	Het
Lyg1	A	T	1: 37,988,977 (GRCm39)	M81K	possibly damaging	Het
Maip1	T	G	1: 57,454,852 (GRCm39)	W279G	probably damaging	Het
Myo7a	T	C	7: 97,721,144 (GRCm39)	T1263A	probably benign	Het
Naa15	T	A	3: 51,373,060 (GRCm39)	I701N	possibly damaging	Het
Ncoa3	A	G	2: 165,910,463 (GRCm39)	N1292S	probably benign	Het
Necab2	T	A	8: 120,180,979 (GRCm39)		probably benign	Het
Nfatc1	T	A	18: 80,741,257 (GRCm39)	I234F	possibly damaging	Het
Olfm1	G	A	2: 28,098,223 (GRCm39)	R95K	possibly damaging	Het
Or10ak8	A	T	4: 118,773,823 (GRCm39)	N280K	possibly damaging	Het
Otoa	T	C	7: 120,755,750 (GRCm39)		probably null	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Pard6g	A	G	18: 80,160,337 (GRCm39)	D150G	probably damaging	Het
Pax5	A	G	4: 44,609,783 (GRCm39)	L215S	probably damaging	Het
Pja2	A	T	17: 64,594,516 (GRCm39)		probably benign	Het
Plk4	T	A	3: 40,765,654 (GRCm39)		probably benign	Het
Polr1a	A	T	6: 71,955,405 (GRCm39)	H1687L	possibly damaging	Het
Ptcd2	G	A	13: 99,479,899 (GRCm39)	L41F	probably damaging	Het
Ropn1	T	A	16: 34,490,334 (GRCm39)	S62T	probably benign	Het
Setd1a	T	C	7: 127,395,223 (GRCm39)		probably benign	Het
Setdb1	T	C	3: 95,234,997 (GRCm39)	D902G	probably damaging	Het
Sik3	T	A	9: 46,120,068 (GRCm39)	L719Q	probably damaging	Het
Slc36a1	G	T	11: 55,123,333 (GRCm39)	V433F	probably benign	Het
Slc6a3	T	C	13: 73,705,169 (GRCm39)	V220A	possibly damaging	Het
Slc6a5	A	T	7: 49,561,539 (GRCm39)	R24W	probably damaging	Het
Smox	G	T	2: 131,362,564 (GRCm39)	R281L	probably benign	Het
Sulf2	G	T	2: 165,935,436 (GRCm39)	H226N	probably damaging	Het
Syne2	C	T	12: 76,106,358 (GRCm39)		probably null	Het
Tenm3	C	T	8: 48,740,826 (GRCm39)	S1210N	possibly damaging	Het
Tns1	A	T	1: 73,964,920 (GRCm39)	V1237E	probably damaging	Het
Trf	C	T	9: 103,094,700 (GRCm39)	V92M	probably damaging	Het
Ttn	A	G	2: 76,539,717 (GRCm39)	V34423A	possibly damaging	Het
Vmn2r118	A	G	17: 55,918,021 (GRCm39)		probably benign	Het
Vmn2r19	A	G	6: 123,286,703 (GRCm39)	Y112C	probably damaging	Het
Zfp326	G	T	5: 106,026,641 (GRCm39)	A15S	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
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
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'- CGAGAAAAGTTGAATGCCTCCACATTG -3'
(R):5'- ACTACAACTATCAGGTGGGATGAGCAG -3'

Sequencing Primer
(F):5'- CCTCATTTGCAGTGGGTGC -3'
(R):5'- TGCAGATAATCTTGATGTAGGAGAC -3'

Posted On

2013-05-09