Mutagenetix > Incidental Mutation

Incidental Mutation 'R0393:Or2n1e'

31825

Institutional Source

Beutler Lab

Gene Symbol

Or2n1e

Ensembl Gene

ENSMUSG00000057443

Gene Name

olfactory receptor family 2 subfamily N member 1E

Synonyms

MOR256-40P, Olfr138, Olfr89, GA_x6K02T2PSCP-2718585-2719523

MMRRC Submission

038599-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R0393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38585664-38586602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38585774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 37 (M37I)

Ref Sequence

ENSEMBL: ENSMUSP00000133828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071871] [ENSMUST00000172843] [ENSMUST00000173841]

AlphaFold

Q7TRI7

Predicted Effect

probably benign
Transcript: ENSMUST00000071871
AA Change: M37I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000071767
Gene: ENSMUSG00000057443
AA Change: M37I

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	2.4e-33	PFAM
Pfam:7tm_4	139	283	8.1e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172843
AA Change: M37I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133698
Gene: ENSMUSG00000057443
AA Change: M37I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.5e-46	PFAM
Pfam:7tm_1	41	290	1.9e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173841
AA Change: M37I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133828
Gene: ENSMUSG00000057443
AA Change: M37I

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	123	1.7e-15	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	T	6: 142,591,604 (GRCm39)		probably benign	Het
Akr1b7	T	G	6: 34,392,335 (GRCm39)	Y49*	probably null	Het
Ankrd10	G	T	8: 11,685,482 (GRCm39)	R46S	possibly damaging	Het
Atp13a5	A	G	16: 29,085,681 (GRCm39)		probably benign	Het
Baz1a	A	G	12: 54,965,221 (GRCm39)		probably null	Het
Bicd2	C	T	13: 49,533,346 (GRCm39)	T644M	probably damaging	Het
Ccr9	A	T	9: 123,609,035 (GRCm39)	H239L	probably benign	Het
Cd180	A	T	13: 102,842,408 (GRCm39)	N485Y	probably damaging	Het
Ces1d	T	A	8: 93,919,400 (GRCm39)	S131C	probably damaging	Het
Cnpy2	T	A	10: 128,162,076 (GRCm39)	S116R	probably benign	Het
Crym	T	C	7: 119,788,972 (GRCm39)	K285R	probably benign	Het
Cyp2a4	A	T	7: 26,012,293 (GRCm39)	I359F	possibly damaging	Het
Cyp2b10	T	A	7: 25,614,359 (GRCm39)		probably benign	Het
Dcpp3	A	T	17: 24,136,925 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,927,364 (GRCm39)	I1340K	probably benign	Het
Fbln1	T	C	15: 85,111,277 (GRCm39)	C144R	probably damaging	Het
Gm1553	T	C	10: 82,328,010 (GRCm39)	R66G	unknown	Het
Il10rb	G	A	16: 91,208,898 (GRCm39)	V103I	probably benign	Het
Irak1bp1	T	A	9: 82,728,614 (GRCm39)	W182R	probably benign	Het
Kcna3	T	C	3: 106,944,315 (GRCm39)	S193P	probably damaging	Het
Kif14	C	T	1: 136,410,156 (GRCm39)	H628Y	probably damaging	Het
Krt31	A	G	11: 99,941,079 (GRCm39)	L77P	probably damaging	Het
Krt36	C	T	11: 99,994,940 (GRCm39)	A211T	possibly damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Lmo7	A	G	14: 102,137,892 (GRCm39)	T743A	probably benign	Het
Lyst	C	T	13: 13,821,664 (GRCm39)	T1346M	probably benign	Het
Mapkbp1	T	A	2: 119,843,384 (GRCm39)		probably null	Het
Mif	T	C	10: 75,695,638 (GRCm39)	D55G	probably benign	Het
Mlh3	G	T	12: 85,314,361 (GRCm39)	C608*	probably null	Het
Mlip	A	T	9: 77,146,859 (GRCm39)	C85S	probably benign	Het
Mug1	T	C	6: 121,826,809 (GRCm39)	S211P	possibly damaging	Het
Mybl2	T	A	2: 162,903,528 (GRCm39)		probably benign	Het
Myh8	C	T	11: 67,196,843 (GRCm39)		probably benign	Het
Nanos1	A	G	19: 60,745,368 (GRCm39)	Y222C	probably damaging	Het
Or10ag52	A	T	2: 87,044,037 (GRCm39)	Y267F	probably benign	Het
Or5d16	T	C	2: 87,773,909 (GRCm39)	D21G	possibly damaging	Het
Papolb	A	G	5: 142,515,211 (GRCm39)	V144A	probably damaging	Het
Pctp	A	G	11: 89,876,945 (GRCm39)	S185P	probably benign	Het
Plod1	A	T	4: 148,003,298 (GRCm39)	L509Q	probably null	Het
Ppp1r13b	C	A	12: 111,802,122 (GRCm39)	M290I	probably benign	Het
Ralb	G	C	1: 119,405,856 (GRCm39)		probably null	Het
Rxylt1	T	C	10: 121,931,841 (GRCm39)		probably benign	Het
Slc4a8	T	A	15: 100,672,519 (GRCm39)	D18E	probably damaging	Het
Speg	A	C	1: 75,400,568 (GRCm39)	H2576P	possibly damaging	Het
Spock1	T	C	13: 57,588,349 (GRCm39)	D241G	probably damaging	Het
Tcam1	T	A	11: 106,175,040 (GRCm39)	V165E	probably benign	Het
Thbs1	T	A	2: 117,943,472 (GRCm39)	V30E	possibly damaging	Het
Tll2	A	G	19: 41,077,265 (GRCm39)	Y834H	possibly damaging	Het
Trpm6	G	A	19: 18,756,008 (GRCm39)	D84N	probably damaging	Het
Ubr1	T	A	2: 120,737,427 (GRCm39)	Q1039L	probably damaging	Het
Ubr4	A	G	4: 139,138,171 (GRCm39)		probably benign	Het
Vmn1r74	T	C	7: 11,581,242 (GRCm39)	Y181H	possibly damaging	Het
Vmn2r13	T	C	5: 109,304,395 (GRCm39)	T679A	probably benign	Het
Vmn2r91	A	T	17: 18,325,712 (GRCm39)	Y110F	probably damaging	Het
Zbtb40	A	C	4: 136,745,842 (GRCm39)	S64A	probably benign	Het
Zfp184	T	A	13: 22,131,252 (GRCm39)		probably benign	Het

Other mutations in Or2n1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Or2n1e	APN	17	38,585,790 (GRCm39)	missense	probably benign	0.01
IGL01874:Or2n1e	APN	17	38,586,408 (GRCm39)	missense	probably benign	0.32
IGL02209:Or2n1e	APN	17	38,586,123 (GRCm39)	missense	probably benign	0.00
IGL03053:Or2n1e	APN	17	38,585,682 (GRCm39)	missense	probably damaging	0.96
IGL03168:Or2n1e	APN	17	38,585,682 (GRCm39)	missense	probably damaging	0.96
R0667:Or2n1e	UTSW	17	38,586,048 (GRCm39)	missense	probably damaging	1.00
R1288:Or2n1e	UTSW	17	38,586,114 (GRCm39)	missense	probably benign	0.09
R1567:Or2n1e	UTSW	17	38,586,459 (GRCm39)	missense	possibly damaging	0.87
R1618:Or2n1e	UTSW	17	38,586,557 (GRCm39)	splice site	probably null
R1699:Or2n1e	UTSW	17	38,585,932 (GRCm39)	missense	probably benign	0.39
R1748:Or2n1e	UTSW	17	38,585,997 (GRCm39)	missense	possibly damaging	0.50
R1862:Or2n1e	UTSW	17	38,586,235 (GRCm39)	missense	probably damaging	0.99
R2251:Or2n1e	UTSW	17	38,585,794 (GRCm39)	missense	probably benign	0.01
R3436:Or2n1e	UTSW	17	38,586,421 (GRCm39)	missense	probably damaging	1.00
R4731:Or2n1e	UTSW	17	38,586,438 (GRCm39)	missense	probably damaging	1.00
R4732:Or2n1e	UTSW	17	38,586,438 (GRCm39)	missense	probably damaging	1.00
R4733:Or2n1e	UTSW	17	38,586,438 (GRCm39)	missense	probably damaging	1.00
R5404:Or2n1e	UTSW	17	38,586,517 (GRCm39)	nonsense	probably null
R5443:Or2n1e	UTSW	17	38,585,905 (GRCm39)	missense	probably damaging	0.99
R5683:Or2n1e	UTSW	17	38,586,437 (GRCm39)	missense	possibly damaging	0.69
R6058:Or2n1e	UTSW	17	38,586,150 (GRCm39)	missense	probably damaging	0.99
R6061:Or2n1e	UTSW	17	38,585,772 (GRCm39)	missense	probably benign
R6266:Or2n1e	UTSW	17	38,586,039 (GRCm39)	missense	probably benign	0.22
R7520:Or2n1e	UTSW	17	38,586,331 (GRCm39)	missense	probably benign	0.00
R7717:Or2n1e	UTSW	17	38,586,471 (GRCm39)	missense	probably damaging	1.00
R7959:Or2n1e	UTSW	17	38,586,602 (GRCm39)	makesense	probably null
R8256:Or2n1e	UTSW	17	38,586,411 (GRCm39)	missense	probably damaging	0.99
R9241:Or2n1e	UTSW	17	38,585,781 (GRCm39)	missense	probably benign	0.00
R9509:Or2n1e	UTSW	17	38,586,281 (GRCm39)	missense	probably benign	0.01
X0024:Or2n1e	UTSW	17	38,586,336 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGCCATACTCTTGGCATCTAGGGTT -3'
(R):5'- GCTTCCCAGGTTAAACAGCATCTGA -3'

Sequencing Primer
(F):5'- cccaacaacaacaacaacaac -3'
(R):5'- CATCTGAGGCACAATGCTTG -3'

Posted On

2013-04-24