Mutagenetix > Incidental Mutation

Incidental Mutation 'R5911:Or1e23'

461010

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

044108-MU

Accession Numbers

Essential gene?

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

Stock #

R5911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73407085-73408023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73407351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 225 (I225F)

Ref Sequence

ENSEMBL: ENSMUSP00000091575 (fasta)

Gene Model

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

AlphaFold

Q8VF79

Predicted Effect

probably damaging
Transcript: ENSMUST00000092921
AA Change: I225F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091575
Gene: ENSMUSG00000095312
AA Change: I225F

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

0.6387

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

92% (77/84)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	C	T	3: 124,350,380 (GRCm39)		probably benign	Het
Acacb	A	T	5: 114,370,951 (GRCm39)	D1731V	probably damaging	Het
Afg3l1	G	A	8: 124,226,778 (GRCm39)	V563I	possibly damaging	Het
Ak7	A	G	12: 105,692,471 (GRCm39)	E175G	probably damaging	Het
Arhgap5	C	T	12: 52,565,525 (GRCm39)	T832I	possibly damaging	Het
Arid4a	A	T	12: 71,116,747 (GRCm39)	T602S	probably damaging	Het
Caps2	C	T	10: 112,001,591 (GRCm39)		probably benign	Het
Ccdc170	G	T	10: 4,508,551 (GRCm39)	E592*	probably null	Het
Clasp1	C	A	1: 118,434,638 (GRCm39)		probably benign	Het
Crhbp	T	A	13: 95,568,564 (GRCm39)	M291L	probably benign	Het
Cyp3a41b	T	A	5: 145,519,349 (GRCm39)	L47F	probably benign	Het
Dgcr6	A	G	16: 17,884,598 (GRCm39)	D82G	probably damaging	Het
Drc7	A	G	8: 95,800,754 (GRCm39)	E592G	probably damaging	Het
Dtl	G	A	1: 191,300,519 (GRCm39)	T115I	probably damaging	Het
Ece2	A	G	16: 20,457,510 (GRCm39)	Y338C	probably damaging	Het
Egr3	A	G	14: 70,316,897 (GRCm39)	D198G	probably damaging	Het
Ereg	A	C	5: 91,222,552 (GRCm39)		probably benign	Het
Esp31	G	C	17: 38,951,933 (GRCm39)		probably null	Het
Faap100	T	C	11: 120,267,958 (GRCm39)	I272V	possibly damaging	Het
Fam3c	T	C	6: 22,328,560 (GRCm39)	D109G	probably damaging	Het
Fam3c	T	A	6: 22,339,299 (GRCm39)	M51L	probably benign	Het
Fcnb	A	T	2: 27,966,701 (GRCm39)	N277K	probably damaging	Het
Fgfr1	A	G	8: 26,009,325 (GRCm39)		probably benign	Het
Gpr158	T	C	2: 21,373,932 (GRCm39)	F289S	possibly damaging	Het
Grik4	C	A	9: 42,502,720 (GRCm39)	V468F	probably damaging	Het
Gtdc1	T	A	2: 44,642,076 (GRCm39)	R168S	probably benign	Het
Gucy2c	C	T	6: 136,699,440 (GRCm39)	G610R	probably damaging	Het
Gulp1	A	T	1: 44,793,534 (GRCm39)	Q65L	possibly damaging	Het
Hectd1	A	T	12: 51,849,035 (GRCm39)	D356E	probably damaging	Het
Hnrnpu	T	C	1: 178,157,737 (GRCm39)		probably benign	Het
Igkv13-57-2	T	C	6: 69,500,971 (GRCm39)		noncoding transcript	Het
Itih4	A	G	14: 30,612,612 (GRCm39)	I213V	possibly damaging	Het
Itpr2	T	C	6: 146,214,441 (GRCm39)	K1469E	probably benign	Het
Jkampl	T	C	6: 73,445,674 (GRCm39)	T292A	probably damaging	Het
Jrk	T	C	15: 74,577,617 (GRCm39)	D556G	possibly damaging	Het
Kctd16	A	T	18: 40,663,905 (GRCm39)	I345F	probably benign	Het
Klhdc1	A	G	12: 69,303,025 (GRCm39)	E187G	possibly damaging	Het
Lrch3	T	C	16: 32,779,833 (GRCm39)	Y111H	probably damaging	Het
Mlh3	A	T	12: 85,315,229 (GRCm39)	V319D	probably damaging	Het
Nsd3	T	C	8: 26,156,092 (GRCm39)	L553P	probably damaging	Het
Or51q1	A	T	7: 103,628,915 (GRCm39)	H172L	probably benign	Het
Or5d38	C	T	2: 87,955,027 (GRCm39)	V101I	probably benign	Het
Or5e1	T	A	7: 108,354,882 (GRCm39)	I273N	probably benign	Het
Or5p66	T	A	7: 107,885,605 (GRCm39)	T243S	probably damaging	Het
Or7g26	T	C	9: 19,230,445 (GRCm39)	I205T	probably benign	Het
Pelp1	C	T	11: 70,287,740 (GRCm39)	R394H	probably damaging	Het
Ppp1r13l	G	T	7: 19,109,817 (GRCm39)		probably null	Het
Prr5	C	A	15: 84,585,635 (GRCm39)	S201*	probably null	Het
Rad23b	T	A	4: 55,370,474 (GRCm39)		probably null	Het
Rasgef1a	T	A	6: 118,061,335 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,738,832 (GRCm39)	I565N	probably damaging	Het
Slc30a5	T	C	13: 100,945,600 (GRCm39)	N527S	probably damaging	Het
Slc39a5	T	A	10: 128,235,812 (GRCm39)	N49Y	probably damaging	Het
Spast	T	A	17: 74,694,058 (GRCm39)	S571T	probably benign	Het
Spdye4c	C	T	2: 128,437,994 (GRCm39)	R245*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tgm7	T	A	2: 120,926,454 (GRCm39)	D480V	probably benign	Het
Thpo	T	A	16: 20,547,546 (GRCm39)	S22C	probably null	Het
Top2a	T	A	11: 98,907,291 (GRCm39)	T180S	possibly damaging	Het
Trim37	T	A	11: 87,087,663 (GRCm39)	Y34*	probably null	Het
Tsc2	T	C	17: 24,819,361 (GRCm39)	E1254G	possibly damaging	Het
Ttc39a	C	T	4: 109,280,168 (GRCm39)	P150L	possibly damaging	Het
Ttc4	T	C	4: 106,525,240 (GRCm39)	D298G	probably damaging	Het
Ttll1	A	G	15: 83,386,482 (GRCm39)	V41A	probably benign	Het
Vmn1r20	C	A	6: 57,408,774 (GRCm39)	H33Q	probably benign	Het
Zan	A	T	5: 137,456,174 (GRCm39)	Y1329N	unknown	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
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'- TTCAGCATGGGAGTCACCAC -3'
(R):5'- ACTGTGCTGTATTCTATGTTGCAC -3'

Sequencing Primer
(F):5'- ACTGTGCACATCATGGCCATG -3'
(R):5'- CTAGATTGTCATTCTGTGAGGATAAC -3'

Posted On

2017-02-28