Mutagenetix > Incidental Mutation

Incidental Mutation 'R8547:Or1e23'

659699

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

068512-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R8547 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73407085-73408023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73407440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 195 (N195S)

Ref Sequence

ENSEMBL: ENSMUSP00000091575 (fasta)

Gene Model

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

AlphaFold

Q8VF79

Predicted Effect

probably damaging
Transcript: ENSMUST00000092921
AA Change: N195S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091575
Gene: ENSMUSG00000095312
AA Change: N195S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,616,474 (GRCm39)	V972A	probably benign	Het
Adamts14	T	G	10: 61,106,998 (GRCm39)	T41P	probably damaging	Het
Adamtsl3	C	T	7: 82,077,621 (GRCm39)	T102I	probably damaging	Het
Ago3	T	C	4: 126,264,109 (GRCm39)	I366V	probably null	Het
Aldh1a7	A	G	19: 20,692,067 (GRCm39)	V242A	possibly damaging	Het
Asxl3	T	C	18: 22,655,829 (GRCm39)	S1280P	probably benign	Het
Caprin1	G	T	2: 103,599,862 (GRCm39)	N604K	probably damaging	Het
Catsperb	T	C	12: 101,412,305 (GRCm39)	W131R	probably damaging	Het
Ccdc18	A	G	5: 108,345,725 (GRCm39)	E957G	probably damaging	Het
Ccn6	T	A	10: 39,027,194 (GRCm39)	D346V	probably damaging	Het
Cd28	G	A	1: 60,785,681 (GRCm39)	V17I	probably benign	Het
Cfl2	A	T	12: 54,908,398 (GRCm39)	L75*	probably null	Het
Clspn	T	A	4: 126,455,609 (GRCm39)	L45H	probably damaging	Het
Col4a2	A	G	8: 11,479,305 (GRCm39)		probably null	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Dgka	A	T	10: 128,556,881 (GRCm39)	I663N	probably damaging	Het
Eppk1	C	T	15: 75,993,249 (GRCm39)	V1211I	probably benign	Het
Fam193b	A	G	13: 55,698,117 (GRCm39)	S280P	probably damaging	Het
Fgd2	C	T	17: 29,583,934 (GRCm39)	A116V	probably damaging	Het
Fmo5	C	A	3: 97,558,811 (GRCm39)	Q424K	probably benign	Het
Fn3k	T	C	11: 121,340,987 (GRCm39)	L214P	probably damaging	Het
Gm3404	A	T	5: 146,465,108 (GRCm39)	R283W	possibly damaging	Het
Gtdc1	A	G	2: 44,678,993 (GRCm39)		probably benign	Het
Hepacam	T	C	9: 37,279,049 (GRCm39)	I26T	probably benign	Het
Hltf	T	C	3: 20,152,291 (GRCm39)	F596L	probably damaging	Het
Ipo7	T	G	7: 109,652,000 (GRCm39)	D926E	probably benign	Het
Krt16	G	A	11: 100,137,083 (GRCm39)	Q463*	probably null	Het
Lats1	T	C	10: 7,588,613 (GRCm39)	F1077L	probably damaging	Het
Lrrc69	T	C	4: 14,704,014 (GRCm39)	I269V	probably benign	Het
Mcm6	C	T	1: 128,273,685 (GRCm39)	E382K	possibly damaging	Het
Npbwr1	A	T	1: 5,987,446 (GRCm39)	C23S	possibly damaging	Het
Nsd3	T	C	8: 26,184,811 (GRCm39)	C962R	probably damaging	Het
Nufip2	T	C	11: 77,583,391 (GRCm39)	L435P	probably damaging	Het
Or10d4c	C	T	9: 39,558,798 (GRCm39)	Q259*	probably null	Het
Potegl	A	T	2: 23,120,135 (GRCm39)	Y177F	probably damaging	Het
Psen1	T	C	12: 83,761,630 (GRCm39)	V144A	possibly damaging	Het
Psmg2	T	A	18: 67,779,077 (GRCm39)	S82T	possibly damaging	Het
Ptcd2	A	C	13: 99,469,462 (GRCm39)	F154V	probably damaging	Het
Ptchd4	A	C	17: 42,813,512 (GRCm39)	D471A	probably benign	Het
Robo4	C	T	9: 37,315,674 (GRCm39)	T309I	possibly damaging	Het
Runx3	T	C	4: 134,898,455 (GRCm39)	F209L	probably damaging	Het
Setd1a	T	C	7: 127,395,676 (GRCm39)		probably benign	Het
Slc35g3	T	C	11: 69,652,446 (GRCm39)	E22G	probably benign	Het
Spag9	T	A	11: 94,013,647 (GRCm39)	M1303K	possibly damaging	Het
Ssh2	T	A	11: 77,340,533 (GRCm39)	S562T	probably benign	Het
Tiparp	T	C	3: 65,453,798 (GRCm39)		probably null	Het
Topbp1	C	T	9: 103,213,264 (GRCm39)	P1028L	probably benign	Het
Unc45a	A	T	7: 79,975,840 (GRCm39)	L833Q	possibly damaging	Het
Vmn2r85	T	C	10: 130,261,311 (GRCm39)	Y342C	probably damaging	Het
Vmn2r95	G	A	17: 18,664,161 (GRCm39)	C460Y	probably damaging	Het
Vps13c	T	A	9: 67,852,848 (GRCm39)	I2376N	probably damaging	Het
Zbtb21	C	A	16: 97,753,315 (GRCm39)	A351S	possibly damaging	Het
Zzef1	T	G	11: 72,735,267 (GRCm39)	Y623D	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
R0320:Or1e23	UTSW	11	73,407,750 (GRCm39)	missense	probably damaging	1.00
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
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'- GGCCATGGAAATCTCCTTCACAG -3'
(R):5'- ATCATGAGCCCCACACTCTG -3'

Sequencing Primer
(F):5'- CATGGAAATCTCCTTCACAGTAGAG -3'
(R):5'- CACTCTGTGTGTGTCTGCTAG -3'

Posted On

2021-01-18