Mutagenetix > Incidental Mutation

Incidental Mutation 'R3438:Or9e1'

267287

Institutional Source

Beutler Lab

Gene Symbol

Or9e1

Ensembl Gene

ENSMUSG00000094805

Gene Name

olfactory receptor family 9 subfamily E member 1

Synonyms

MOR222-1, Olfr311, GA_x6K02T2NKPP-565870-564944

MMRRC Submission

040656-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R3438 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58731942-58732868 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 58732698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 253 (G253*)

Ref Sequence

ENSEMBL: ENSMUSP00000150870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071625] [ENSMUST00000216473]

AlphaFold

Q5NC59

Predicted Effect

probably null
Transcript: ENSMUST00000071625
AA Change: G253*

SMART Domains

Protein: ENSMUSP00000071553
Gene: ENSMUSG00000094805
AA Change: G253*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	9e-52	PFAM
Pfam:7TM_GPCR_Srsx	33	215	1.7e-8	PFAM
Pfam:7tm_1	39	288	9.7e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214776

Predicted Effect

probably null
Transcript: ENSMUST00000216473
AA Change: G253*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (37/38)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017G19Rik	A	G	3: 40,575,673 (GRCm39)		noncoding transcript	Het
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Ampd3	T	C	7: 110,402,433 (GRCm39)	I479T	probably damaging	Het
Aoah	G	A	13: 21,101,242 (GRCm39)	R254K	probably benign	Het
Appbp2	T	C	11: 85,088,966 (GRCm39)	E358G	probably damaging	Het
Col6a5	A	G	9: 105,752,991 (GRCm39)	S2294P	possibly damaging	Het
Cux1	T	C	5: 136,340,414 (GRCm39)	E632G	probably damaging	Het
Cyp7a1	T	C	4: 6,272,769 (GRCm39)	N148S	probably damaging	Het
Dgkz	A	T	2: 91,764,395 (GRCm39)		probably benign	Het
Dlgap1	A	T	17: 70,823,356 (GRCm39)	S114C	probably damaging	Het
Dmtn	T	A	14: 70,850,156 (GRCm39)	I263F	probably damaging	Het
Gigyf2	C	A	1: 87,368,302 (GRCm39)	H1029N	probably damaging	Het
Gm10770	T	A	2: 150,021,469 (GRCm39)		probably null	Het
Gnb1l	A	G	16: 18,371,117 (GRCm39)	T203A	probably benign	Het
Kng2	T	C	16: 22,830,821 (GRCm39)	I163V	probably benign	Het
Lamc1	T	C	1: 153,102,161 (GRCm39)	D1479G	probably benign	Het
Larp7-ps	A	C	4: 92,079,919 (GRCm39)	V23G	possibly damaging	Het
Lhx4	T	A	1: 155,578,230 (GRCm39)	D304V	probably benign	Het
Mybl1	G	T	1: 9,757,870 (GRCm39)	T143K	probably damaging	Het
Notch3	C	T	17: 32,372,564 (GRCm39)	C630Y	probably damaging	Het
Oas1e	T	C	5: 120,933,475 (GRCm39)	E30G	probably damaging	Het
Or4c114	T	C	2: 88,904,707 (GRCm39)	I243V	probably benign	Het
Or8b55	T	G	9: 38,727,512 (GRCm39)	F238V	probably damaging	Het
Otoa	A	G	7: 120,759,566 (GRCm39)	E1056G	possibly damaging	Het
Plin4	A	G	17: 56,414,193 (GRCm39)	V144A	probably benign	Het
Sec16b	T	C	1: 157,384,328 (GRCm39)		probably benign	Het
Stk31	A	G	6: 49,414,455 (GRCm39)	S485G	probably benign	Het
Tanc2	C	T	11: 105,748,401 (GRCm39)	P511L	probably damaging	Het
Utrn	T	C	10: 12,357,062 (GRCm39)	D309G	probably damaging	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		probably benign	Het
Vsx2	A	T	12: 84,616,985 (GRCm39)	Q90L	probably damaging	Het

Other mutations in Or9e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02367:Or9e1	APN	11	58,732,338 (GRCm39)	missense	probably benign	0.10
H8786:Or9e1	UTSW	11	58,732,146 (GRCm39)	missense	probably benign	0.22
R0620:Or9e1	UTSW	11	58,732,269 (GRCm39)	missense	probably damaging	1.00
R0671:Or9e1	UTSW	11	58,732,681 (GRCm39)	missense	possibly damaging	0.94
R0827:Or9e1	UTSW	11	58,732,597 (GRCm39)	missense	probably damaging	1.00
R0839:Or9e1	UTSW	11	58,732,478 (GRCm39)	missense	probably benign
R0932:Or9e1	UTSW	11	58,732,540 (GRCm39)	missense	possibly damaging	0.92
R1117:Or9e1	UTSW	11	58,732,641 (GRCm39)	missense	possibly damaging	0.64
R1533:Or9e1	UTSW	11	58,732,792 (GRCm39)	missense	probably damaging	1.00
R1540:Or9e1	UTSW	11	58,732,477 (GRCm39)	missense	probably benign	0.01
R1595:Or9e1	UTSW	11	58,732,478 (GRCm39)	missense	probably benign
R1826:Or9e1	UTSW	11	58,732,257 (GRCm39)	missense	probably benign
R2857:Or9e1	UTSW	11	58,732,708 (GRCm39)	missense	probably benign	0.42
R2858:Or9e1	UTSW	11	58,732,708 (GRCm39)	missense	probably benign	0.42
R2859:Or9e1	UTSW	11	58,732,708 (GRCm39)	missense	probably benign	0.42
R3765:Or9e1	UTSW	11	58,732,120 (GRCm39)	missense	probably damaging	1.00
R3831:Or9e1	UTSW	11	58,732,686 (GRCm39)	missense	probably damaging	0.99
R4858:Or9e1	UTSW	11	58,732,033 (GRCm39)	missense	possibly damaging	0.86
R5651:Or9e1	UTSW	11	58,732,317 (GRCm39)	nonsense	probably null
R5979:Or9e1	UTSW	11	58,732,666 (GRCm39)	missense	probably damaging	1.00
R6316:Or9e1	UTSW	11	58,732,768 (GRCm39)	missense	probably damaging	1.00
R6717:Or9e1	UTSW	11	58,732,113 (GRCm39)	missense	probably damaging	1.00
R7163:Or9e1	UTSW	11	58,732,012 (GRCm39)	missense	probably benign	0.12
R7605:Or9e1	UTSW	11	58,732,326 (GRCm39)	missense	probably benign	0.00
R8328:Or9e1	UTSW	11	58,732,460 (GRCm39)	missense	probably benign	0.00
Z1186:Or9e1	UTSW	11	58,732,032 (GRCm39)	missense	probably benign
Z1186:Or9e1	UTSW	11	58,732,569 (GRCm39)	missense	probably benign	0.16
Z1186:Or9e1	UTSW	11	58,731,945 (GRCm39)	missense	probably benign
Z1186:Or9e1	UTSW	11	58,731,907 (GRCm39)	start gained	probably benign
Z1186:Or9e1	UTSW	11	58,732,615 (GRCm39)	missense	probably benign
Z1187:Or9e1	UTSW	11	58,732,032 (GRCm39)	missense	probably benign
Z1187:Or9e1	UTSW	11	58,732,084 (GRCm39)	missense	probably benign
Z1187:Or9e1	UTSW	11	58,732,569 (GRCm39)	missense	probably benign	0.16
Z1187:Or9e1	UTSW	11	58,732,615 (GRCm39)	missense	probably benign
Z1187:Or9e1	UTSW	11	58,731,907 (GRCm39)	start gained	probably benign
Z1187:Or9e1	UTSW	11	58,731,945 (GRCm39)	missense	probably benign
Z1188:Or9e1	UTSW	11	58,731,945 (GRCm39)	missense	probably benign
Z1188:Or9e1	UTSW	11	58,731,907 (GRCm39)	start gained	probably benign
Z1188:Or9e1	UTSW	11	58,732,615 (GRCm39)	missense	probably benign
Z1188:Or9e1	UTSW	11	58,732,569 (GRCm39)	missense	probably benign	0.16
Z1188:Or9e1	UTSW	11	58,732,084 (GRCm39)	missense	probably benign
Z1188:Or9e1	UTSW	11	58,732,032 (GRCm39)	missense	probably benign
Z1189:Or9e1	UTSW	11	58,732,569 (GRCm39)	missense	probably benign	0.16
Z1189:Or9e1	UTSW	11	58,731,945 (GRCm39)	missense	probably benign
Z1189:Or9e1	UTSW	11	58,731,907 (GRCm39)	start gained	probably benign
Z1189:Or9e1	UTSW	11	58,732,615 (GRCm39)	missense	probably benign
Z1190:Or9e1	UTSW	11	58,731,945 (GRCm39)	missense	probably benign
Z1190:Or9e1	UTSW	11	58,731,907 (GRCm39)	start gained	probably benign
Z1190:Or9e1	UTSW	11	58,732,615 (GRCm39)	missense	probably benign
Z1190:Or9e1	UTSW	11	58,732,569 (GRCm39)	missense	probably benign	0.16
Z1190:Or9e1	UTSW	11	58,732,084 (GRCm39)	missense	probably benign
Z1190:Or9e1	UTSW	11	58,732,032 (GRCm39)	missense	probably benign
Z1191:Or9e1	UTSW	11	58,731,945 (GRCm39)	missense	probably benign
Z1191:Or9e1	UTSW	11	58,731,907 (GRCm39)	start gained	probably benign
Z1191:Or9e1	UTSW	11	58,732,615 (GRCm39)	missense	probably benign
Z1191:Or9e1	UTSW	11	58,732,569 (GRCm39)	missense	probably benign	0.16
Z1191:Or9e1	UTSW	11	58,732,084 (GRCm39)	missense	probably benign
Z1191:Or9e1	UTSW	11	58,732,032 (GRCm39)	missense	probably benign
Z1192:Or9e1	UTSW	11	58,732,032 (GRCm39)	missense	probably benign
Z1192:Or9e1	UTSW	11	58,731,945 (GRCm39)	missense	probably benign
Z1192:Or9e1	UTSW	11	58,731,907 (GRCm39)	start gained	probably benign
Z1192:Or9e1	UTSW	11	58,732,615 (GRCm39)	missense	probably benign
Z1192:Or9e1	UTSW	11	58,732,569 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AGACTGTCCTGCACTGATTAC -3'
(R):5'- AGCCACACACTGTAGGCTTC -3'

Sequencing Primer
(F):5'- CTGCACTGATTACCATCTCAATGAGG -3'
(R):5'- ACACACTGTAGGCTTCAATGTC -3'

Posted On

2015-02-18