Mutagenetix > Incidental Mutation

Incidental Mutation 'R5162:Or9a2'

397048

Institutional Source

Beutler Lab

Gene Symbol

Or9a2

Ensembl Gene

ENSMUSG00000045479

Gene Name

olfactory receptor family 9 subfamily A member 2

Synonyms

GA_x6K02T2P3E9-5780974-5781915, Olfr459, MOR120-1

MMRRC Submission

042744-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R5162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41748287-41749231 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41748706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 176 (H176N)

Ref Sequence

ENSEMBL: ENSMUSP00000149928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050412] [ENSMUST00000214752] [ENSMUST00000214976]

AlphaFold

Q924H8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050412
AA Change: H176N

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061622
Gene: ENSMUSG00000045479
AA Change: H176N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	7.9e-46	PFAM
Pfam:7TM_GPCR_Srsx	34	304	1.7e-6	PFAM
Pfam:7tm_1	40	290	6.2e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203430
AA Change: H176N

SMART Domains

Protein: ENSMUSP00000145036
Gene: ENSMUSG00000045479
AA Change: H176N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	7.9e-46	PFAM
Pfam:7TM_GPCR_Srsx	34	304	1.7e-6	PFAM
Pfam:7tm_1	40	290	6.2e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214752
AA Change: H176N

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214976
AA Change: H176N

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.2114

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (61/62)

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
2010315B03Rik	T	A	9: 124,056,301 (GRCm39)	T229S	probably benign	Het
Adrb3	T	C	8: 27,717,348 (GRCm39)	E367G	probably benign	Het
Ak9	T	A	10: 41,233,653 (GRCm39)	N630K	probably damaging	Het
Atp8b1	T	C	18: 64,694,733 (GRCm39)	I516M	possibly damaging	Het
Bcor	C	T	X: 11,906,725 (GRCm39)	R1551Q	probably damaging	Het
Cry1	T	A	10: 84,969,150 (GRCm39)	H558L	probably benign	Het
Cstdc3	A	T	16: 36,132,918 (GRCm39)	H65L	probably damaging	Het
Cyp3a57	T	A	5: 145,305,893 (GRCm39)	W126R	probably damaging	Het
Dhx36	A	T	3: 62,401,201 (GRCm39)	V355E	probably damaging	Het
Dpp6	A	G	5: 27,604,013 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Enpp2	T	C	15: 54,710,692 (GRCm39)	D694G	probably benign	Het
Esrp2	T	C	8: 106,859,930 (GRCm39)	E336G	probably damaging	Het
Faah	A	T	4: 115,857,938 (GRCm39)		probably benign	Het
Fat1	G	A	8: 45,478,846 (GRCm39)	G2608R	probably benign	Het
Fbxo8	A	T	8: 57,022,354 (GRCm39)	Y122F	probably damaging	Het
Fgd5	A	G	6: 92,051,215 (GRCm39)	D1497G	probably damaging	Het
Fn3krp	T	C	11: 121,320,410 (GRCm39)	F252L	probably damaging	Het
Fnip2	T	C	3: 79,389,084 (GRCm39)	Y549C	probably damaging	Het
Gcm2	T	C	13: 41,257,131 (GRCm39)	N206S	probably benign	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
H2-T10	T	A	17: 36,429,843 (GRCm39)		probably null	Het
Henmt1	T	C	3: 108,847,366 (GRCm39)		probably null	Het
Man1b1	T	A	2: 25,233,365 (GRCm39)	L246Q	probably damaging	Het
Mdh2	T	C	5: 135,812,329 (GRCm39)		probably null	Het
Mocos	T	C	18: 24,787,109 (GRCm39)	F43L	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Naip5	T	A	13: 100,359,914 (GRCm39)	I441F	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nars2	T	C	7: 96,709,027 (GRCm39)		probably benign	Het
Ncoa2	A	T	1: 13,245,396 (GRCm39)	M434K	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,394 (GRCm38)		noncoding transcript	Het
Or14j8	T	A	17: 38,263,255 (GRCm39)	Q220L	probably benign	Het
Pals2	T	A	6: 50,155,495 (GRCm39)	W259R	probably damaging	Het
Pars2	A	G	4: 106,511,735 (GRCm39)	T506A	probably benign	Het
Pkp2	T	C	16: 16,078,200 (GRCm39)	S481P	probably damaging	Het
Plod3	T	C	5: 137,020,161 (GRCm39)	W459R	probably damaging	Het
Pramel13	A	T	4: 144,121,482 (GRCm39)	L181M	probably damaging	Het
Prdm10	A	T	9: 31,251,714 (GRCm39)	I361F	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Raver2	T	C	4: 100,959,921 (GRCm39)	C134R	probably damaging	Het
Rnf130	G	C	11: 49,943,722 (GRCm39)	A123P	probably damaging	Het
Slc29a4	G	A	5: 142,707,207 (GRCm39)	A517T	possibly damaging	Het
Slc38a6	T	A	12: 73,376,759 (GRCm39)	S138T	possibly damaging	Het
Spred1	T	C	2: 117,008,102 (GRCm39)	V336A	possibly damaging	Het
Sptlc3	T	A	2: 139,473,263 (GRCm39)	M504K	probably benign	Het
Syt11	T	C	3: 88,655,149 (GRCm39)	D78G	probably damaging	Het
Trim23	C	T	13: 104,317,682 (GRCm39)	T61I	probably damaging	Het
Tsg101	T	C	7: 46,542,174 (GRCm39)	T260A	probably damaging	Het
Tyw5	T	C	1: 57,440,618 (GRCm39)	Y48C	probably damaging	Het
Utp25	G	T	1: 192,796,089 (GRCm39)	T192K	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Vmn2r89	C	A	14: 51,693,620 (GRCm39)	H323Q	possibly damaging	Het
Vps18	A	G	2: 119,123,423 (GRCm39)	S117G	probably benign	Het
Zfp93	C	G	7: 23,975,757 (GRCm39)	Q581E	probably damaging	Het

Other mutations in Or9a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Or9a2	APN	6	41,749,047 (GRCm39)	missense	probably damaging	1.00
IGL01460:Or9a2	APN	6	41,749,216 (GRCm39)	missense	probably benign	0.12
IGL02465:Or9a2	APN	6	41,748,490 (GRCm39)	missense	probably damaging	1.00
R0352:Or9a2	UTSW	6	41,749,058 (GRCm39)	missense	probably damaging	0.99
R0443:Or9a2	UTSW	6	41,748,829 (GRCm39)	missense	possibly damaging	0.75
R0480:Or9a2	UTSW	6	41,749,198 (GRCm39)	missense	probably benign	0.01
R1491:Or9a2	UTSW	6	41,748,456 (GRCm39)	missense	possibly damaging	0.95
R1495:Or9a2	UTSW	6	41,748,837 (GRCm39)	missense	probably damaging	1.00
R2103:Or9a2	UTSW	6	41,748,939 (GRCm39)	missense	probably benign	0.36
R3688:Or9a2	UTSW	6	41,749,160 (GRCm39)	nonsense	probably null
R3910:Or9a2	UTSW	6	41,749,083 (GRCm39)	missense	probably benign	0.00
R4709:Or9a2	UTSW	6	41,748,442 (GRCm39)	missense	probably benign	0.06
R4710:Or9a2	UTSW	6	41,748,442 (GRCm39)	missense	probably benign	0.06
R4960:Or9a2	UTSW	6	41,749,003 (GRCm39)	missense	probably damaging	0.97
R5236:Or9a2	UTSW	6	41,749,045 (GRCm39)	missense	probably benign	0.00
R5441:Or9a2	UTSW	6	41,748,782 (GRCm39)	missense	probably benign	0.00
R7171:Or9a2	UTSW	6	41,748,961 (GRCm39)	missense	probably benign	0.09
R7400:Or9a2	UTSW	6	41,748,678 (GRCm39)	missense	probably damaging	1.00
R8115:Or9a2	UTSW	6	41,748,472 (GRCm39)	missense	probably benign	0.00
R8346:Or9a2	UTSW	6	41,749,057 (GRCm39)	missense	probably damaging	1.00
R8363:Or9a2	UTSW	6	41,748,684 (GRCm39)	missense	probably benign	0.06
R9573:Or9a2	UTSW	6	41,748,940 (GRCm39)	missense	probably benign	0.00
R9700:Or9a2	UTSW	6	41,749,076 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACAGGTGGAGAAGGCTTTC -3'
(R):5'- AGGGACCACAGAGTTTGCAG -3'

Sequencing Primer
(F):5'- GCTTTCTTCCGGCCAGAAG -3'
(R):5'- ACCACAGAGTTTGCAGTGCTTG -3'

Posted On

2016-06-21