Mutagenetix > Incidental Mutation

Incidental Mutation 'R9492:Or12e9'

716969

Institutional Source

Beutler Lab

Gene Symbol

Or12e9

Ensembl Gene

ENSMUSG00000070852

Gene Name

olfactory receptor family 12 subfamily E member 9

Synonyms

Olfr1121, GA_x6K02T2Q125-48863863-48864807, MOR264-18

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R9492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87201878-87202822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87201960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 28 (N28S)

Ref Sequence

ENSEMBL: ENSMUSP00000150120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062555] [ENSMUST00000213792]

AlphaFold

L7MTT1

Predicted Effect

probably benign
Transcript: ENSMUST00000062555
AA Change: N28S

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000058201
Gene: ENSMUSG00000070852
AA Change: N28S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	314	3.3e-54	PFAM
Pfam:7tm_1	47	296	3.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213792
AA Change: N28S

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	C	1: 120,078,472 (GRCm39)	K43T	probably damaging	Het
Abca12	A	G	1: 71,297,380 (GRCm39)	V2370A	possibly damaging	Het
Abca13	T	A	11: 9,243,667 (GRCm39)	C1843*	probably null	Het
Abr	C	T	11: 76,399,751 (GRCm39)	S82N	probably benign	Het
Acot2	T	C	12: 84,039,384 (GRCm39)	S298P	probably benign	Het
Acrbp	A	G	6: 125,038,062 (GRCm39)	D421G	probably benign	Het
Adam25	A	T	8: 41,206,736 (GRCm39)	M1L	probably benign	Het
Ano8	A	G	8: 71,934,784 (GRCm39)	V441A	possibly damaging	Het
Aoc1l1	T	C	6: 48,955,540 (GRCm39)	S717P	probably benign	Het
Atg2b	T	C	12: 105,624,549 (GRCm39)	H650R	probably benign	Het
Atp11a	C	T	8: 12,894,490 (GRCm39)	T695I	probably damaging	Het
AU018091	A	G	7: 3,214,023 (GRCm39)	S74P	probably benign	Het
Cadps2	A	G	6: 23,427,238 (GRCm39)	Y597H	probably benign	Het
Ccdc15	C	T	9: 37,215,665 (GRCm39)	E619K	probably damaging	Het
Ceacam11	G	T	7: 17,709,468 (GRCm39)	C222F	probably benign	Het
Cmya5	T	C	13: 93,177,822 (GRCm39)	*3677W	probably null	Het
Col11a1	G	C	3: 114,005,752 (GRCm39)	C1628S	probably benign	Het
Dhx8	T	C	11: 101,654,808 (GRCm39)	I1032T	possibly damaging	Het
Dpp10	T	C	1: 123,281,159 (GRCm39)	D630G	probably damaging	Het
Eci3	C	T	13: 35,143,976 (GRCm39)	G50R	probably benign	Het
Eif2a	A	G	3: 58,448,475 (GRCm39)	T103A	probably benign	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Gdnf	C	T	15: 7,840,423 (GRCm39)		probably benign	Het
Hace1	T	A	10: 45,547,230 (GRCm39)	M471K	probably benign	Het
Hydin	A	G	8: 111,326,877 (GRCm39)	T4739A	possibly damaging	Het
Ilf2	A	G	3: 90,394,570 (GRCm39)	I320V	probably benign	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Klhl21	T	C	4: 152,093,419 (GRCm39)	L7S	probably benign	Het
Lrrc61	G	T	6: 48,545,761 (GRCm39)	E195*	probably null	Het
Maz	G	T	7: 126,622,292 (GRCm39)	A443E	possibly damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mtor	T	A	4: 148,568,801 (GRCm39)	L1107Q	probably damaging	Het
Nectin3	T	C	16: 46,215,511 (GRCm39)	H494R	probably benign	Het
Nlgn1	G	T	3: 25,488,480 (GRCm39)	Y618*	probably null	Het
Nup98	C	T	7: 101,778,252 (GRCm39)	E1372K	probably benign	Het
Or5af1	T	C	11: 58,722,610 (GRCm39)	V210A	probably benign	Het
Otud6b	A	G	4: 14,818,349 (GRCm39)	I184T	probably damaging	Het
Pcsk6	A	G	7: 65,697,346 (GRCm39)	N891S	probably benign	Het
Pde4a	T	A	9: 21,106,096 (GRCm39)	L237Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pou3f1	A	G	4: 124,552,179 (GRCm39)	H227R	possibly damaging	Het
Prss53	G	A	7: 127,488,802 (GRCm39)	R31C	probably damaging	Het
Psmb8	T	A	17: 34,417,435 (GRCm39)	D21E	probably benign	Het
Ptprq	A	G	10: 107,478,813 (GRCm39)	Y1277H	probably damaging	Het
Rexo2	T	C	9: 48,380,176 (GRCm39)	T219A	probably benign	Het
Rfc3	A	G	5: 151,566,411 (GRCm39)	F346S	probably damaging	Het
Rhoq	A	T	17: 87,304,373 (GRCm39)	Q168L		Het
Sgk1	A	G	10: 21,874,096 (GRCm39)	N452S	probably damaging	Het
Slc35f3	A	G	8: 127,048,026 (GRCm39)	K122R	probably damaging	Het
Slc4a2	T	A	5: 24,644,761 (GRCm39)	M1021K	probably benign	Het
Sorcs2	A	G	5: 36,186,484 (GRCm39)	V886A	probably benign	Het
Spata20	T	A	11: 94,374,444 (GRCm39)	M308L	probably damaging	Het
Spen	A	T	4: 141,199,098 (GRCm39)	H3176Q	probably benign	Het
Stat5b	T	A	11: 100,692,361 (GRCm39)	H141L	probably benign	Het
Syne2	T	A	12: 75,995,839 (GRCm39)	H2126Q	possibly damaging	Het
Traj46	A	G	14: 54,409,851 (GRCm39)	T20A		Het
Trim30a	G	T	7: 104,078,330 (GRCm39)	Q249K	probably damaging	Het
Trmt13	A	G	3: 116,388,281 (GRCm39)	Y52H	probably benign	Het
Trpv3	A	G	11: 73,187,267 (GRCm39)	I700V	probably damaging	Het
Tyr	G	A	7: 87,121,704 (GRCm39)	H363Y	probably damaging	Het
Tyr	C	G	7: 87,121,705 (GRCm39)	M362I	possibly damaging	Het
Ubb	G	A	11: 62,442,984 (GRCm39)	V5M	probably damaging	Het
Unc5a	T	C	13: 55,150,288 (GRCm39)	L519P	probably damaging	Het
Uso1	A	G	5: 92,315,191 (GRCm39)	D185G	possibly damaging	Het
Vmn1r228	C	T	17: 20,996,862 (GRCm39)	E219K	probably damaging	Het
Wdr49	A	G	3: 75,240,669 (GRCm39)	V400A	probably damaging	Het
Zfp292	A	G	4: 34,810,794 (GRCm39)	M755T	probably benign	Het

Other mutations in Or12e9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02534:Or12e9	APN	2	87,202,598 (GRCm39)	missense	probably benign
IGL03280:Or12e9	APN	2	87,202,467 (GRCm39)	missense	probably damaging	1.00
R0501:Or12e9	UTSW	2	87,201,896 (GRCm39)	missense	probably damaging	0.96
R1350:Or12e9	UTSW	2	87,202,701 (GRCm39)	missense	probably benign
R1713:Or12e9	UTSW	2	87,202,290 (GRCm39)	missense	probably damaging	1.00
R2404:Or12e9	UTSW	2	87,202,568 (GRCm39)	missense	probably benign	0.09
R4737:Or12e9	UTSW	2	87,202,665 (GRCm39)	missense	probably damaging	0.99
R4825:Or12e9	UTSW	2	87,202,432 (GRCm39)	nonsense	probably null
R5109:Or12e9	UTSW	2	87,201,878 (GRCm39)	start codon destroyed	probably null	0.04
R5200:Or12e9	UTSW	2	87,202,446 (GRCm39)	missense	probably damaging	0.99
R6393:Or12e9	UTSW	2	87,201,909 (GRCm39)	missense	probably damaging	1.00
R6658:Or12e9	UTSW	2	87,202,497 (GRCm39)	missense	probably benign	0.01
R7011:Or12e9	UTSW	2	87,202,604 (GRCm39)	missense	possibly damaging	0.74
R7427:Or12e9	UTSW	2	87,202,034 (GRCm39)	missense	probably benign	0.01
R7428:Or12e9	UTSW	2	87,202,034 (GRCm39)	missense	probably benign	0.01
R7671:Or12e9	UTSW	2	87,202,613 (GRCm39)	missense	probably damaging	1.00
R8268:Or12e9	UTSW	2	87,202,332 (GRCm39)	missense	probably damaging	0.97
R9015:Or12e9	UTSW	2	87,202,485 (GRCm39)	missense	possibly damaging	0.48
R9344:Or12e9	UTSW	2	87,202,161 (GRCm39)	missense	possibly damaging	0.89
R9468:Or12e9	UTSW	2	87,202,116 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAGTCATGACAAATTGTGAGCTC -3'
(R):5'- ACCCTAGGGAGAATGACTGATAC -3'

Sequencing Primer
(F):5'- GTGAGCTCATTAGTTACACACAC -3'
(R):5'- CCTAGGGAGAATGACTGATACATAAC -3'

Posted On

2022-07-18