Mutagenetix > Incidental Mutation

Incidental Mutation 'R9088:Or52e15'

690756

Institutional Source

Beutler Lab

Gene Symbol

Or52e15

Ensembl Gene

ENSMUSG00000051172

Gene Name

olfactory receptor family 52 subfamily E member 15

Synonyms

Olfr672, MOR32-4, GA_x6K02T2PBJ9-7625746-7624808

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R9088 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104645171-104646109 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104645301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 270 (P270Q)

Ref Sequence

ENSEMBL: ENSMUSP00000149704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050599] [ENSMUST00000213942]

AlphaFold

Q8VG28

Predicted Effect

probably damaging
Transcript: ENSMUST00000050599
AA Change: P270Q

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

SMART Domains

Protein: ENSMUSP00000054607
Gene: ENSMUSG00000051172
AA Change: P270Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	9.1e-111	PFAM
Pfam:7TM_GPCR_Srsx	37	304	4.8e-7	PFAM
Pfam:7tm_1	43	293	5.8e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213942
AA Change: P270Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	A	G	10: 41,282,870 (GRCm39)	Y1212C		Het
Asah2	T	C	19: 32,030,360 (GRCm39)	Q104R	probably damaging	Het
Bnipl	T	A	3: 95,158,295 (GRCm39)	R9*	probably null	Het
Bpifa3	A	C	2: 153,975,685 (GRCm39)	N85T	possibly damaging	Het
C6	T	C	15: 4,792,956 (GRCm39)	Y354H	probably damaging	Het
Caln1	A	T	5: 130,443,617 (GRCm39)		probably benign	Het
Capn3	T	C	2: 120,321,451 (GRCm39)	F378L	probably benign	Het
Car6	T	C	4: 150,281,806 (GRCm39)	H125R	probably damaging	Het
Ccdc110	G	A	8: 46,394,882 (GRCm39)	E258K	probably damaging	Het
Cep295	C	A	9: 15,233,815 (GRCm39)	R2327L	probably benign	Het
Col14a1	T	A	15: 55,226,923 (GRCm39)	D224E	unknown	Het
Col16a1	T	A	4: 129,971,016 (GRCm39)	S938T	unknown	Het
Col4a2	A	G	8: 11,493,227 (GRCm39)	E1340G	possibly damaging	Het
Col6a6	C	T	9: 105,661,276 (GRCm39)	V278M	probably damaging	Het
Crybg2	T	A	4: 133,799,890 (GRCm39)	L41Q	probably damaging	Het
Ctss	A	T	3: 95,436,867 (GRCm39)	D50V	possibly damaging	Het
Ddx56	C	T	11: 6,209,612 (GRCm39)	A500T	probably benign	Het
Dmbt1	T	C	7: 130,718,418 (GRCm39)	V1713A	unknown	Het
Dnah1	T	C	14: 30,987,970 (GRCm39)	I3483V	probably benign	Het
E130308A19Rik	T	A	4: 59,737,594 (GRCm39)	F402I	probably benign	Het
Eml6	A	T	11: 29,768,424 (GRCm39)	H754Q	probably damaging	Het
Ern2	A	G	7: 121,772,890 (GRCm39)	Y576H	probably damaging	Het
Fat4	T	C	3: 39,061,448 (GRCm39)	S4344P	probably benign	Het
Fbxo40	A	G	16: 36,790,150 (GRCm39)	I320T		Het
Fbxw22	C	T	9: 109,207,952 (GRCm39)	D440N	probably damaging	Het
Fgd2	A	G	17: 29,583,913 (GRCm39)	E109G	probably damaging	Het
Gm19410	A	T	8: 36,240,766 (GRCm39)	D214V	probably damaging	Het
Hivep2	T	C	10: 14,006,995 (GRCm39)	Y1198H	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Lrrc37	T	C	11: 103,511,762 (GRCm39)	K69E	unknown	Het
Lrrc8e	G	A	8: 4,284,410 (GRCm39)	V212M	probably damaging	Het
Map2	A	T	1: 66,453,773 (GRCm39)	S888C	probably damaging	Het
Met	G	T	6: 17,548,715 (GRCm39)	G920*	probably null	Het
Mlkl	G	T	8: 112,049,365 (GRCm39)	R253S		Het
Mmachc	T	A	4: 116,561,829 (GRCm39)	I102F	probably damaging	Het
Mnt	G	T	11: 74,733,880 (GRCm39)	V504L	unknown	Het
Mup14	C	T	4: 61,258,496 (GRCm39)	G96D	probably damaging	Het
Myh13	G	A	11: 67,242,885 (GRCm39)	E933K	probably damaging	Het
Ncoa6	A	G	2: 155,249,726 (GRCm39)	S1193P	probably damaging	Het
Nek10	T	C	14: 14,931,314 (GRCm38)	I762T	probably damaging	Het
Nmur1	G	T	1: 86,315,252 (GRCm39)	F204L	probably benign	Het
Or1ak2	A	G	2: 36,827,988 (GRCm39)	N286D	probably damaging	Het
Or8a1	T	A	9: 37,641,806 (GRCm39)	I158F	probably damaging	Het
Pappa2	T	C	1: 158,763,927 (GRCm39)	Y528C	probably damaging	Het
Patl1	T	C	19: 11,920,289 (GRCm39)	S748P	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Polr1a	A	G	6: 71,908,767 (GRCm39)	T531A	probably benign	Het
Slit3	C	T	11: 35,012,463 (GRCm39)	S41F	possibly damaging	Het
Snap29	A	G	16: 17,246,058 (GRCm39)	Q226R	probably damaging	Het
Spmip2	G	A	3: 79,337,429 (GRCm39)	G185D	probably damaging	Het
Tmpo	A	G	10: 90,989,138 (GRCm39)		probably null	Het
Tnfrsf21	G	A	17: 43,348,607 (GRCm39)	G73E	probably damaging	Het
Tsc1	T	A	2: 28,552,617 (GRCm39)	C119S	possibly damaging	Het
Uox	A	G	3: 146,330,369 (GRCm39)	Y199C	probably damaging	Het
Vav2	T	C	2: 27,187,708 (GRCm39)	D231G	possibly damaging	Het
Vmn2r80	A	T	10: 79,005,378 (GRCm39)	K338N	probably benign	Het
Xylt2	G	A	11: 94,561,229 (GRCm39)	T178I	probably benign	Het
Zfp931	G	T	2: 177,709,594 (GRCm39)	T264K	probably damaging	Het
Zgrf1	A	G	3: 127,377,326 (GRCm39)	D857G	probably benign	Het

Other mutations in Or52e15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Or52e15	APN	7	104,645,928 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Or52e15	UTSW	7	104,645,424 (GRCm39)	missense	probably damaging	1.00
R0396:Or52e15	UTSW	7	104,645,913 (GRCm39)	missense	probably damaging	0.99
R0632:Or52e15	UTSW	7	104,645,910 (GRCm39)	missense	probably benign	0.00
R1490:Or52e15	UTSW	7	104,645,700 (GRCm39)	missense	possibly damaging	0.95
R1781:Or52e15	UTSW	7	104,645,315 (GRCm39)	missense	possibly damaging	0.80
R2251:Or52e15	UTSW	7	104,645,802 (GRCm39)	missense	probably damaging	1.00
R3419:Or52e15	UTSW	7	104,645,727 (GRCm39)	missense	probably damaging	1.00
R3625:Or52e15	UTSW	7	104,645,191 (GRCm39)	missense	probably benign	0.17
R4093:Or52e15	UTSW	7	104,645,842 (GRCm39)	missense	probably benign	0.01
R4620:Or52e15	UTSW	7	104,645,830 (GRCm39)	missense	probably damaging	1.00
R4890:Or52e15	UTSW	7	104,645,311 (GRCm39)	missense	probably benign	0.15
R5338:Or52e15	UTSW	7	104,645,514 (GRCm39)	missense	possibly damaging	0.61
R5934:Or52e15	UTSW	7	104,645,385 (GRCm39)	missense	probably damaging	1.00
R6712:Or52e15	UTSW	7	104,645,625 (GRCm39)	missense	possibly damaging	0.92
R7620:Or52e15	UTSW	7	104,645,962 (GRCm39)	missense	possibly damaging	0.64
R9435:Or52e15	UTSW	7	104,645,946 (GRCm39)	missense	probably benign	0.00
Z1088:Or52e15	UTSW	7	104,645,661 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCCATGAATACGGAAACATTGTGTG -3'
(R):5'- TGATTGCTCTGTCCTATGCG -3'

Sequencing Primer
(F):5'- CCACACGATCTCGAATCT -3'
(R):5'- GATTGCTCTGTCCTATGCGAAAATTC -3'

Posted On

2021-12-30