Mutagenetix > Incidental Mutation

Incidental Mutation 'R0018:Or1e35'

177883

Institutional Source

Beutler Lab

Gene Symbol

Or1e35

Ensembl Gene

ENSMUSG00000062186

Gene Name

olfactory receptor family 1 subfamily E member 35

Synonyms

MOR135-10, GA_x6K02T2P1NL-4062605-4061667, Olfr395

MMRRC Submission

038313-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R0018 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

73797378-73798316 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73797452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 289 (I289V)

Ref Sequence

ENSEMBL: ENSMUSP00000149064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072991] [ENSMUST00000215690]

AlphaFold

Q8VGR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000072991
AA Change: I289V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072756
Gene: ENSMUSG00000062186
AA Change: I289V

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
Pfam:7tm_4	31	309	6.2e-56	PFAM
Pfam:7TM_GPCR_Srsx	35	305	2.8e-8	PFAM
Pfam:7tm_1	41	290	3.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215690
AA Change: I289V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.2442

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (64/64)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,532,162 (GRCm39)		probably null	Het
Afp	A	C	5: 90,654,600 (GRCm39)	Q546P	probably damaging	Het
Api5	A	T	2: 94,251,329 (GRCm39)		probably null	Het
Atp2b4	T	A	1: 133,645,609 (GRCm39)	I982F	probably damaging	Het
BC024139	G	A	15: 76,005,087 (GRCm39)	Q592*	probably null	Het
Capn7	T	A	14: 31,076,069 (GRCm39)	C290*	probably null	Het
Ccn1	A	G	3: 145,355,186 (GRCm39)	L23P	probably damaging	Het
Celsr1	T	A	15: 85,915,243 (GRCm39)	D910V	possibly damaging	Het
Chga	T	C	12: 102,524,764 (GRCm39)	S45P	probably damaging	Het
Cpne2	T	A	8: 95,282,681 (GRCm39)	C59S	possibly damaging	Het
Cyp2b13	G	A	7: 25,785,375 (GRCm39)	R248H	probably benign	Het
Dennd1a	T	A	2: 37,748,472 (GRCm39)	T336S	possibly damaging	Het
Drc7	A	G	8: 95,800,862 (GRCm39)	Y628C	probably damaging	Het
Dse	A	G	10: 34,029,464 (GRCm39)	V542A	probably benign	Het
Dspp	A	T	5: 104,326,096 (GRCm39)	S820C	unknown	Het
Efcab3	G	A	11: 104,612,378 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,057,970 (GRCm39)	S91P	unknown	Het
Epop	A	G	11: 97,519,017 (GRCm39)	V364A	probably benign	Het
Ext2	G	A	2: 93,626,037 (GRCm39)	P341L	probably damaging	Het
Galns	T	C	8: 123,311,724 (GRCm39)	T429A	probably benign	Het
Gsx2	A	G	5: 75,237,828 (GRCm39)	K260R	probably damaging	Het
H2-M10.6	A	C	17: 37,124,941 (GRCm39)	H286P	probably damaging	Het
Hectd4	A	G	5: 121,392,242 (GRCm39)	N169D	possibly damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hmcn1	T	C	1: 150,528,302 (GRCm39)	D3282G	probably benign	Het
Hnmt	T	A	2: 23,893,640 (GRCm39)	N285Y	possibly damaging	Het
Hr	A	G	14: 70,795,717 (GRCm39)	R450G	probably benign	Het
Kat6a	A	G	8: 23,419,289 (GRCm39)	D684G	possibly damaging	Het
Kif27	T	G	13: 58,435,867 (GRCm39)	I1309L	probably benign	Het
Mab21l4	T	A	1: 93,082,327 (GRCm39)	D264V	probably benign	Het
Man2b1	T	A	8: 85,824,118 (GRCm39)	V1005E	probably damaging	Het
Me2	A	T	18: 73,924,923 (GRCm39)	F265I	possibly damaging	Het
Myo9a	A	T	9: 59,779,007 (GRCm39)	T1588S	probably benign	Het
Neu4	T	A	1: 93,953,060 (GRCm39)	D476E	probably benign	Het
Nlrp9c	T	A	7: 26,071,423 (GRCm39)	Q895L	possibly damaging	Het
Or1p1c	A	C	11: 74,160,934 (GRCm39)	T240P	probably benign	Het
Pdzd8	C	T	19: 59,289,105 (GRCm39)	R765H	probably damaging	Het
Plk1	T	C	7: 121,768,208 (GRCm39)		probably null	Het
Ppfia2	A	G	10: 106,678,647 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,544,406 (GRCm39)	Y1799H	probably benign	Het
Psmc1	T	C	12: 100,082,951 (GRCm39)		probably benign	Het
Ptchd3	A	C	11: 121,733,170 (GRCm39)	I687L	probably benign	Het
Ptprh	A	G	7: 4,604,845 (GRCm39)		probably null	Het
Pus3	A	G	9: 35,477,920 (GRCm39)	D384G	probably benign	Het
Rab44	C	T	17: 29,358,354 (GRCm39)	P181S	probably benign	Het
Rasa2	A	G	9: 96,454,016 (GRCm39)	S307P	probably damaging	Het
Rbpms2	A	G	9: 65,558,360 (GRCm39)	D142G	probably damaging	Het
Reln	A	T	5: 22,130,369 (GRCm39)	D2647E	probably benign	Het
Ryr2	G	A	13: 11,610,109 (GRCm39)	T4239I	possibly damaging	Het
Sctr	C	A	1: 119,971,286 (GRCm39)		probably benign	Het
Serpinb6e	A	T	13: 34,021,828 (GRCm39)	Y167N	probably damaging	Het
Slc13a5	T	C	11: 72,157,301 (GRCm39)	I31V	probably benign	Het
Slc15a4	A	T	5: 127,679,074 (GRCm39)	I422N	probably damaging	Het
Stk24	G	A	14: 121,545,419 (GRCm39)		probably benign	Het
Vmn1r213	T	A	13: 23,196,311 (GRCm39)	V298D	probably damaging	Het
Xdh	C	T	17: 74,232,020 (GRCm39)	R230H	probably benign	Het
Zfp418	A	T	7: 7,185,449 (GRCm39)	S471C	probably benign	Het

Other mutations in Or1e35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Or1e35	APN	11	73,798,139 (GRCm39)	missense	probably damaging	1.00
IGL01618:Or1e35	APN	11	73,798,303 (GRCm39)	missense	probably damaging	1.00
IGL01995:Or1e35	APN	11	73,798,261 (GRCm39)	missense	possibly damaging	0.52
IGL02494:Or1e35	APN	11	73,797,550 (GRCm39)	missense	possibly damaging	0.55
IGL02995:Or1e35	APN	11	73,798,045 (GRCm39)	missense	possibly damaging	0.90
IGL03256:Or1e35	APN	11	73,797,522 (GRCm39)	missense	probably benign	0.07
R0701:Or1e35	UTSW	11	73,797,655 (GRCm39)	missense	probably damaging	1.00
R0839:Or1e35	UTSW	11	73,798,138 (GRCm39)	missense	probably damaging	0.99
R1222:Or1e35	UTSW	11	73,798,240 (GRCm39)	missense	probably damaging	1.00
R1737:Or1e35	UTSW	11	73,797,911 (GRCm39)	missense	possibly damaging	0.69
R1819:Or1e35	UTSW	11	73,797,505 (GRCm39)	missense	probably benign	0.02
R2994:Or1e35	UTSW	11	73,797,541 (GRCm39)	missense	probably damaging	1.00
R3195:Or1e35	UTSW	11	73,797,484 (GRCm39)	missense	possibly damaging	0.91
R4622:Or1e35	UTSW	11	73,797,737 (GRCm39)	missense	possibly damaging	0.55
R4753:Or1e35	UTSW	11	73,797,677 (GRCm39)	missense	probably damaging	1.00
R5137:Or1e35	UTSW	11	73,797,452 (GRCm39)	missense	probably damaging	1.00
R5448:Or1e35	UTSW	11	73,797,437 (GRCm39)	missense	probably damaging	1.00
R5604:Or1e35	UTSW	11	73,797,853 (GRCm39)	missense	probably benign	0.02
R5748:Or1e35	UTSW	11	73,797,721 (GRCm39)	missense	probably damaging	0.98
R5899:Or1e35	UTSW	11	73,797,755 (GRCm39)	missense	probably damaging	1.00
R6156:Or1e35	UTSW	11	73,797,447 (GRCm39)	nonsense	probably null
R6388:Or1e35	UTSW	11	73,798,118 (GRCm39)	missense	probably damaging	1.00
R6572:Or1e35	UTSW	11	73,797,629 (GRCm39)	missense	possibly damaging	0.91
R7241:Or1e35	UTSW	11	73,798,058 (GRCm39)	missense	probably benign	0.05
R8870:Or1e35	UTSW	11	73,797,725 (GRCm39)	missense	probably benign	0.03
R9358:Or1e35	UTSW	11	73,797,451 (GRCm39)	missense	probably damaging	1.00
R9544:Or1e35	UTSW	11	73,797,637 (GRCm39)	missense	probably benign	0.14
R9645:Or1e35	UTSW	11	73,797,713 (GRCm39)	missense	probably benign
R9667:Or1e35	UTSW	11	73,798,097 (GRCm39)	missense	possibly damaging	0.83
R9707:Or1e35	UTSW	11	73,798,090 (GRCm39)	missense	possibly damaging	0.79
Z1177:Or1e35	UTSW	11	73,797,439 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTACTTTGATTCATGCACCAAGC -3'
(R):5'- AATATCCCATGCCCTGCTGCATAC -3'

Sequencing Primer
(F):5'- ATGCACCAAGCCTCTTTTTG -3'
(R):5'- GAAGTTGTCCTGCTCAGACAC -3'

Posted On

2014-04-30