Mutagenetix > Incidental Mutation

Incidental Mutation 'R6393:Or12e9'

515844

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

044542-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6393 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87201878-87202822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87201909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 11 (N11S)

Ref Sequence

ENSEMBL: ENSMUSP00000150120 (fasta)

Gene Model

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

AlphaFold

L7MTT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000062555
AA Change: N11S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058201
Gene: ENSMUSG00000070852
AA Change: N11S

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 damaging
Transcript: ENSMUST00000213792
AA Change: N11S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.8%

Validation Efficiency

99% (70/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,856,690 (GRCm39)	Q14R	possibly damaging	Het
Adamts12	A	G	15: 11,255,721 (GRCm39)	D430G	probably damaging	Het
Agxt2	T	C	15: 10,393,894 (GRCm39)		probably null	Het
Akirin1	T	G	4: 123,637,324 (GRCm39)	Q87P	possibly damaging	Het
Ank2	G	A	3: 126,723,406 (GRCm39)	R974C	probably damaging	Het
Arhgap23	A	G	11: 97,354,498 (GRCm39)	I804V	probably damaging	Het
Arhgef28	A	T	13: 98,130,527 (GRCm39)	L437Q	possibly damaging	Het
Atp8a2	G	T	14: 60,011,204 (GRCm39)	Y967*	probably null	Het
Calcr	A	G	6: 3,708,586 (GRCm39)	L200S	probably damaging	Het
Ccdc80	T	A	16: 44,916,828 (GRCm39)	V528D	possibly damaging	Het
Chd6	A	G	2: 160,821,407 (GRCm39)	Y1296H	probably damaging	Het
Chst13	G	A	6: 90,302,063 (GRCm39)	R28C	possibly damaging	Het
Clrn1	A	G	3: 58,753,741 (GRCm39)	F207L	probably damaging	Het
Col12a1	T	C	9: 79,562,767 (GRCm39)	T1772A	probably damaging	Het
Cubn	T	C	2: 13,360,491 (GRCm39)	T1744A	probably benign	Het
Dchs2	A	G	3: 83,037,218 (GRCm39)	E655G	probably damaging	Het
Dnajb3	T	A	1: 88,133,384 (GRCm39)	E6V	possibly damaging	Het
Dock5	G	A	14: 68,060,051 (GRCm39)	P463S	probably benign	Het
Eif4a3l1	A	G	6: 136,305,596 (GRCm39)	K19R	probably benign	Het
Fancd2	T	A	6: 113,555,374 (GRCm39)	C1128S	probably benign	Het
Fcrl5	G	A	3: 87,355,634 (GRCm39)	G449E	probably damaging	Het
Frem2	G	T	3: 53,493,061 (GRCm39)	N1818K	possibly damaging	Het
Gm21149	C	A	5: 15,678,037 (GRCm39)	V187L	possibly damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gstm7	A	G	3: 107,838,142 (GRCm39)		probably null	Het
Htr1b	T	A	9: 81,513,810 (GRCm39)	I266F	probably benign	Het
Jakmip3	T	C	7: 138,620,900 (GRCm39)	I305T	probably damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Kifc5b	T	C	17: 27,140,816 (GRCm39)	C97R	probably benign	Het
Klhl30	A	T	1: 91,288,912 (GRCm39)	H557L	probably damaging	Het
Lama3	T	C	18: 12,612,813 (GRCm39)	V1199A	probably benign	Het
Lmbr1	A	G	5: 29,459,292 (GRCm39)	L246P	probably damaging	Het
M6pr	T	C	6: 122,292,339 (GRCm39)	L178P	possibly damaging	Het
Med17	A	G	9: 15,185,879 (GRCm39)	S212P	probably damaging	Het
Med23	T	A	10: 24,749,374 (GRCm39)	S31T	possibly damaging	Het
Morc2b	T	G	17: 33,356,750 (GRCm39)	T341P	probably damaging	Het
Mre11a	A	G	9: 14,696,805 (GRCm39)	M1V	probably null	Het
Mrpl17	T	C	7: 105,459,122 (GRCm39)	H158R	probably benign	Het
Mstn	A	G	1: 53,105,648 (GRCm39)	Q330R	probably benign	Het
Muc16	T	A	9: 18,558,695 (GRCm39)	K2533*	probably null	Het
N4bp2	T	C	5: 65,948,344 (GRCm39)	S325P	possibly damaging	Het
Nadk	A	G	4: 155,673,808 (GRCm39)	Y399C	possibly damaging	Het
Nbea	A	C	3: 55,998,540 (GRCm39)	L89R	probably damaging	Het
Ncoa1	A	G	12: 4,328,181 (GRCm39)	F775L	probably benign	Het
Ndufa11	C	A	17: 57,028,331 (GRCm39)	A70E	probably damaging	Het
Nfx1	A	G	4: 40,976,851 (GRCm39)	Y175C	possibly damaging	Het
Or10q3	A	T	19: 11,848,091 (GRCm39)	L163Q	probably damaging	Het
Pcsk6	T	C	7: 65,618,762 (GRCm39)	S443P	probably damaging	Het
Pcsk9	T	C	4: 106,304,793 (GRCm39)	D425G	probably benign	Het
Pdcd1lg2	T	A	19: 29,414,698 (GRCm39)	C42S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Rbm46	G	A	3: 82,771,262 (GRCm39)	T451M	probably benign	Het
Rcan2	T	A	17: 44,264,370 (GRCm39)	V10D	probably benign	Het
Rpl7l1	T	C	17: 47,093,548 (GRCm39)	E4G	probably benign	Het
Rptn	A	G	3: 93,304,506 (GRCm39)	E613G	probably benign	Het
Sbk2	T	C	7: 4,960,621 (GRCm39)	D183G	probably damaging	Het
Slc15a4	C	T	5: 127,693,950 (GRCm39)	A162T	probably benign	Het
Slc30a4	A	G	2: 122,527,966 (GRCm39)	W315R	probably damaging	Het
Slc39a14	G	C	14: 70,547,262 (GRCm39)	F361L	probably benign	Het
Slc6a13	T	C	6: 121,313,801 (GRCm39)	Y515H	possibly damaging	Het
Slitrk3	C	A	3: 72,957,247 (GRCm39)	K508N	possibly damaging	Het
Stard4	T	C	18: 33,338,278 (GRCm39)	D144G	probably benign	Het
Tlr9	T	C	9: 106,102,136 (GRCm39)	F476L	probably damaging	Het
Tshz1	A	T	18: 84,031,345 (GRCm39)	V1021D	probably damaging	Het
Vmn1r54	A	T	6: 90,246,304 (GRCm39)	I73F	probably benign	Het
Vmn2r19	A	C	6: 123,293,112 (GRCm39)	S385R	possibly damaging	Het
Xkr5	A	G	8: 18,998,716 (GRCm39)	L34P	probably damaging	Het
Xpo4	A	G	14: 57,875,770 (GRCm39)	V121A	probably damaging	Het
Zbtb40	T	A	4: 136,712,177 (GRCm39)	H268L	probably null	Het
Zfp865	T	C	7: 5,033,065 (GRCm39)	F350S	probably damaging	Het
Zscan4b	T	C	7: 10,634,828 (GRCm39)	I472V	possibly damaging	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
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
R9492:Or12e9	UTSW	2	87,201,960 (GRCm39)	missense	probably benign	0.12

Predicted Primers

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

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

Posted On

2018-05-04