Mutagenetix > Incidental Mutation

Incidental Mutation 'R0320:Or1e23'

38300

Institutional Source

Beutler Lab

Gene Symbol

Or1e23

Ensembl Gene

ENSMUSG00000095312

Gene Name

olfactory receptor family 1 subfamily E member 23

Synonyms

MOR135-31_p, MOR135-14, Olfr382, GA_x6K02T2P1NL-3676608-3675670

MMRRC Submission

038530-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R0320 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

73407085-73408023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 73407750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 92 (I92L)

Ref Sequence

ENSEMBL: ENSMUSP00000091575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092921]

AlphaFold

Q8VF79

Predicted Effect

probably damaging
Transcript: ENSMUST00000092921
AA Change: I92L

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

SMART Domains

Protein: ENSMUSP00000091575
Gene: ENSMUSG00000095312
AA Change: I92L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.6e-53	PFAM
Pfam:7TM_GPCR_Srsx	35	305	2.9e-10	PFAM
Pfam:7tm_1	41	290	1.2e-24	PFAM

Meta Mutation Damage Score

0.3892

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

100% (71/71)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,571 (GRCm39)	T465A	probably benign	Het
A430110L20Rik	T	G	1: 181,054,987 (GRCm39)		noncoding transcript	Het
Aadacl4fm1	A	T	4: 144,248,990 (GRCm39)	H119L	probably damaging	Het
Abcb10	C	T	8: 124,689,746 (GRCm39)	R439Q	probably benign	Het
Abcb8	T	C	5: 24,605,788 (GRCm39)	S199P	probably damaging	Het
Adam8	C	A	7: 139,566,355 (GRCm39)	C556F	probably damaging	Het
Akap11	T	C	14: 78,750,819 (GRCm39)	T523A	probably benign	Het
Aldh3b1	T	C	19: 3,968,999 (GRCm39)		probably benign	Het
Arhgap30	T	A	1: 171,231,372 (GRCm39)	W230R	possibly damaging	Het
Atp8b4	A	G	2: 126,301,614 (GRCm39)	I82T	possibly damaging	Het
Bptf	A	T	11: 106,963,645 (GRCm39)	L1850I	probably damaging	Het
C4b	C	A	17: 34,952,135 (GRCm39)	V1237L	probably benign	Het
Calu	C	A	6: 29,374,550 (GRCm39)		probably benign	Het
Cit	C	A	5: 116,117,504 (GRCm39)	L1227M	possibly damaging	Het
Col4a1	C	T	8: 11,292,782 (GRCm39)		probably null	Het
Cp	T	C	3: 20,029,012 (GRCm39)		probably benign	Het
Cpd	T	C	11: 76,731,273 (GRCm39)	D311G	possibly damaging	Het
Ctc1	T	A	11: 68,924,363 (GRCm39)	S972T	probably damaging	Het
Dnah17	A	G	11: 117,943,500 (GRCm39)	F3201L	possibly damaging	Het
Dop1b	C	A	16: 93,607,035 (GRCm39)	R2113S	probably benign	Het
Dym	T	A	18: 75,332,333 (GRCm39)	D520E	probably damaging	Het
Eif5a	G	T	11: 69,808,305 (GRCm39)	T64K	probably benign	Het
Flt3	A	T	5: 147,306,389 (GRCm39)		probably benign	Het
Ints6	A	T	14: 62,945,084 (GRCm39)	Y415*	probably null	Het
Itga1	A	G	13: 115,114,130 (GRCm39)		probably benign	Het
Itgae	A	G	11: 73,021,825 (GRCm39)	H902R	possibly damaging	Het
Itprid1	T	C	6: 55,953,432 (GRCm39)	I916T	probably damaging	Het
Kdm5a	T	C	6: 120,366,581 (GRCm39)	I406T	probably benign	Het
Lmx1a	C	T	1: 167,618,973 (GRCm39)	Q111*	probably null	Het
Lrrc25	T	C	8: 71,070,896 (GRCm39)	Y226H	probably benign	Het
Mcam	T	A	9: 44,051,483 (GRCm39)	N447K	possibly damaging	Het
Mcm10	A	T	2: 5,008,897 (GRCm39)	D357E	probably benign	Het
Nrip1	T	C	16: 76,089,251 (GRCm39)	T769A	probably benign	Het
Ofcc1	G	C	13: 40,360,172 (GRCm39)	Q286E	probably benign	Het
Or56b35	A	T	7: 104,963,861 (GRCm39)	I217F	probably benign	Het
Parp3	T	A	9: 106,353,011 (GRCm39)	N55I	possibly damaging	Het
Parp4	T	C	14: 56,825,953 (GRCm39)		probably null	Het
Pilrb1	G	A	5: 137,853,260 (GRCm39)	T181I	probably benign	Het
Ppm1n	A	G	7: 19,012,281 (GRCm39)	V317A	probably damaging	Het
Prdm2	A	T	4: 142,905,921 (GRCm39)	F55L	probably damaging	Het
Psd2	C	T	18: 36,112,697 (GRCm39)	R131C	probably damaging	Het
Ralgps1	A	T	2: 33,031,027 (GRCm39)	C570S	possibly damaging	Het
Scaf8	T	C	17: 3,228,530 (GRCm39)	S443P	unknown	Het
Setd5	A	G	6: 113,088,442 (GRCm39)	K190R	probably damaging	Het
Spsb4	T	A	9: 96,878,161 (GRCm39)	H54L	probably damaging	Het
St7l	T	A	3: 104,778,229 (GRCm39)	L122*	probably null	Het
Stom	C	T	2: 35,211,646 (GRCm39)	R125H	probably damaging	Het
Tigd4	T	A	3: 84,502,481 (GRCm39)	V466E	probably benign	Het
Tmc3	A	C	7: 83,257,027 (GRCm39)		probably benign	Het
Vcl	C	T	14: 21,035,692 (GRCm39)		probably benign	Het
Vmn1r168	G	A	7: 23,240,767 (GRCm39)	R208H	probably benign	Het
Vmn2r75	C	A	7: 85,814,288 (GRCm39)	V402L	probably benign	Het
Vps13b	A	T	15: 35,674,974 (GRCm39)	H1698L	probably damaging	Het
Wnt16	T	G	6: 22,297,992 (GRCm39)	V286G	possibly damaging	Het
Xirp1	C	A	9: 119,845,533 (GRCm39)	V1117L	probably benign	Het
Zfp788	C	T	7: 41,298,971 (GRCm39)	H536Y	probably damaging	Het

Other mutations in Or1e23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Or1e23	APN	11	73,407,236 (GRCm39)	missense	possibly damaging	0.59
IGL00896:Or1e23	APN	11	73,407,167 (GRCm39)	missense	probably damaging	1.00
IGL01723:Or1e23	APN	11	73,407,452 (GRCm39)	missense	probably damaging	1.00
IGL01734:Or1e23	APN	11	73,407,462 (GRCm39)	missense	probably benign	0.39
IGL02267:Or1e23	APN	11	73,407,375 (GRCm39)	missense	probably benign	0.44
IGL02681:Or1e23	APN	11	73,407,356 (GRCm39)	missense	probably benign
IGL03165:Or1e23	APN	11	73,407,710 (GRCm39)	nonsense	probably null
BB009:Or1e23	UTSW	11	73,407,983 (GRCm39)	missense	probably damaging	1.00
BB019:Or1e23	UTSW	11	73,407,983 (GRCm39)	missense	probably damaging	1.00
IGL03134:Or1e23	UTSW	11	73,407,941 (GRCm39)	missense	probably benign	0.02
R0633:Or1e23	UTSW	11	73,407,753 (GRCm39)	missense	probably benign	0.23
R0638:Or1e23	UTSW	11	73,407,750 (GRCm39)	missense	probably damaging	1.00
R0691:Or1e23	UTSW	11	73,407,670 (GRCm39)	missense	possibly damaging	0.55
R1630:Or1e23	UTSW	11	73,407,546 (GRCm39)	missense	probably damaging	1.00
R2269:Or1e23	UTSW	11	73,407,309 (GRCm39)	missense	probably damaging	1.00
R4001:Or1e23	UTSW	11	73,407,812 (GRCm39)	missense	probably damaging	1.00
R4925:Or1e23	UTSW	11	73,407,998 (GRCm39)	missense	possibly damaging	0.87
R5707:Or1e23	UTSW	11	73,407,451 (GRCm39)	missense	probably damaging	1.00
R5911:Or1e23	UTSW	11	73,407,351 (GRCm39)	missense	probably damaging	1.00
R6225:Or1e23	UTSW	11	73,407,831 (GRCm39)	missense	probably damaging	0.99
R6251:Or1e23	UTSW	11	73,407,534 (GRCm39)	missense	probably benign	0.00
R6332:Or1e23	UTSW	11	73,408,001 (GRCm39)	missense	probably benign	0.00
R7013:Or1e23	UTSW	11	73,407,247 (GRCm39)	nonsense	probably null
R7196:Or1e23	UTSW	11	73,407,957 (GRCm39)	missense	probably benign
R7443:Or1e23	UTSW	11	73,407,674 (GRCm39)	missense	possibly damaging	0.89
R7932:Or1e23	UTSW	11	73,407,983 (GRCm39)	missense	probably damaging	1.00
R8201:Or1e23	UTSW	11	73,407,899 (GRCm39)	missense	probably damaging	1.00
R8257:Or1e23	UTSW	11	73,407,203 (GRCm39)	missense	probably benign	0.28
R8547:Or1e23	UTSW	11	73,407,440 (GRCm39)	missense	probably damaging	1.00
R9219:Or1e23	UTSW	11	73,407,801 (GRCm39)	missense	probably damaging	0.98
R9526:Or1e23	UTSW	11	73,407,351 (GRCm39)	missense	probably damaging	1.00
R9638:Or1e23	UTSW	11	73,407,875 (GRCm39)	missense	probably benign	0.00
Z1177:Or1e23	UTSW	11	73,407,861 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCAGAGCAAGCCAACTTGAGC -3'
(R):5'- AGTACCAGCACCTGTACTATGCCC -3'

Sequencing Primer
(F):5'- GGTGGATCAAGTTATCCTCACAG -3'
(R):5'- GTACTATGCCCTGTTCCTGG -3'

Posted On

2013-05-23