Mutagenetix > Incidental Mutation

Incidental Mutation 'R5707:Or1e23'

452037

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

043332-MU

Accession Numbers

Essential gene?

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

Stock #

R5707 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73407085-73408023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73407451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 191 (D191E)

Ref Sequence

ENSEMBL: ENSMUSP00000091575 (fasta)

Gene Model

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

AlphaFold

Q8VF79

Predicted Effect

probably damaging
Transcript: ENSMUST00000092921
AA Change: D191E

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

SMART Domains

Protein: ENSMUSP00000091575
Gene: ENSMUSG00000095312
AA Change: D191E

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

0.1988

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (56/58)

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
Abca13	T	C	11: 9,460,620 (GRCm39)	L4210P	probably damaging	Het
Adcy6	T	C	15: 98,496,622 (GRCm39)	T518A	probably damaging	Het
Adgb	C	T	10: 10,267,501 (GRCm39)	V940I	probably damaging	Het
Aqp11	A	G	7: 97,386,635 (GRCm39)	V187A	possibly damaging	Het
Arhgef15	A	G	11: 68,845,541 (GRCm39)	S104P	probably damaging	Het
Birc6	T	A	17: 75,003,399 (GRCm39)	N4762K	probably damaging	Het
Cacna1e	T	C	1: 154,509,463 (GRCm39)	D264G	probably damaging	Het
Cela3b	G	T	4: 137,152,167 (GRCm39)	Q97K	probably damaging	Het
Cenpc1	T	A	5: 86,183,293 (GRCm39)	R499W	possibly damaging	Het
Chct1	A	G	11: 85,064,138 (GRCm39)	N93S	probably benign	Het
Cnr1	C	A	4: 33,944,330 (GRCm39)	C239*	probably null	Het
Col6a2	T	C	10: 76,446,865 (GRCm39)	K348E	possibly damaging	Het
Ctnnb1	C	A	9: 120,784,234 (GRCm39)	L368I	probably benign	Het
Diras1	T	C	10: 80,857,915 (GRCm39)	E112G	probably benign	Het
Dop1a	T	A	9: 86,385,050 (GRCm39)	M332K	possibly damaging	Het
Dpy19l1	T	C	9: 24,325,563 (GRCm39)	*747W	probably null	Het
Dydc2	T	G	14: 40,783,911 (GRCm39)	T71P	probably damaging	Het
Elapor2	A	G	5: 9,491,698 (GRCm39)	Y686C	probably damaging	Het
Ggt1	T	A	10: 75,421,072 (GRCm39)	I429N	probably benign	Het
Gm5114	G	C	7: 39,060,700 (GRCm39)	L50V	probably benign	Het
Gm5121	T	G	9: 57,241,766 (GRCm39)		noncoding transcript	Het
Kidins220	A	G	12: 25,063,390 (GRCm39)	D933G	probably damaging	Het
Kirrel3	A	G	9: 34,924,572 (GRCm39)	K286R	probably damaging	Het
Klf5	T	C	14: 99,538,944 (GRCm39)	I39T	probably benign	Het
Krt14	C	T	11: 100,095,584 (GRCm39)	V274I	possibly damaging	Het
Meiob	A	G	17: 25,054,025 (GRCm39)	D364G	probably benign	Het
Mroh7	T	A	4: 106,539,082 (GRCm39)	E1190D	possibly damaging	Het
Mtmr7	T	C	8: 41,011,203 (GRCm39)	E285G	possibly damaging	Het
Nhsl1	C	T	10: 18,402,251 (GRCm39)	T1159M	probably damaging	Het
Odad4	G	A	11: 100,444,887 (GRCm39)	A348T	probably damaging	Het
Or1af1	C	A	2: 37,109,901 (GRCm39)	N133K	probably benign	Het
Or2b2b	A	G	13: 21,858,769 (GRCm39)	L115P	probably damaging	Het
Pcare	G	T	17: 72,058,567 (GRCm39)	A370E	possibly damaging	Het
Pdlim5	T	A	3: 142,010,060 (GRCm39)	H294L	probably damaging	Het
Pdzd8	A	T	19: 59,288,057 (GRCm39)	D1114E	probably benign	Het
Phf20	T	G	2: 156,138,691 (GRCm39)		probably null	Het
Plec	C	T	15: 76,083,871 (GRCm39)		probably benign	Het
Ppp1r18	T	C	17: 36,178,128 (GRCm39)	M1T	probably null	Het
Ppp4r3a	G	A	12: 101,024,770 (GRCm39)	T243I	probably damaging	Het
Prss41	C	T	17: 24,061,390 (GRCm39)	V134I	probably benign	Het
Pter	T	C	2: 12,982,991 (GRCm39)		probably benign	Het
Rasgef1b	T	G	5: 99,382,461 (GRCm39)	K176N	possibly damaging	Het
Reps1	T	A	10: 17,931,758 (GRCm39)	D16E	probably benign	Het
Slc4a5	T	A	6: 83,238,397 (GRCm39)	D73E	probably benign	Het
Smgc	A	T	15: 91,744,861 (GRCm39)	T146S	possibly damaging	Het
Sptbn1	A	T	11: 30,093,174 (GRCm39)	W396R	possibly damaging	Het
Stkld1	A	G	2: 26,833,999 (GRCm39)	E162G	probably damaging	Het
Tanc1	T	C	2: 59,588,874 (GRCm39)	F106L	probably benign	Het
Tarbp1	A	G	8: 127,193,883 (GRCm39)	Y340H	probably damaging	Het
Tenm2	T	C	11: 35,938,009 (GRCm39)	I1556V	possibly damaging	Het
Tmem64	T	C	4: 15,266,288 (GRCm39)	C113R	probably damaging	Het
Try4	T	C	6: 41,281,977 (GRCm39)	F188L	possibly damaging	Het
Ucn3	A	G	13: 3,991,556 (GRCm39)	V32A	probably benign	Het
Vmn2r83	T	A	10: 79,327,183 (GRCm39)	M597K	possibly damaging	Het
Wdr90	A	G	17: 26,076,166 (GRCm39)	V491A	probably benign	Het
Xylt1	T	A	7: 117,255,717 (GRCm39)	M763K	possibly damaging	Het
Zfp507	G	T	7: 35,493,588 (GRCm39)	A485E	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
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'- GTCCCATAGAACAGTGAGACTACAG -3'
(R):5'- ATGACCGGTATGTGGCTGTC -3'

Sequencing Primer
(F):5'- ACTACAGACAGGTGGGACCC -3'
(R):5'- GTATGTGGCTGTCTGCTTCCC -3'

Posted On

2017-01-03