Mutagenetix > Incidental Mutation

Incidental Mutation 'R5943:Or52n5'

460420

Institutional Source

Beutler Lab

Gene Symbol

Or52n5

Ensembl Gene

ENSMUSG00000073916

Gene Name

olfactory receptor family 52 subfamily N member 5

Synonyms

GA_x6K02T2PBJ9-7567376-7568329, Olfr669, MOR34-6

MMRRC Submission

044135-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R5943 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104587735-104588688 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104587850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 39 (I39N)

Ref Sequence

ENSEMBL: ENSMUSP00000150928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098164] [ENSMUST00000210138] [ENSMUST00000214260]

AlphaFold

Q8VGU9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098164
AA Change: I39N

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095767
Gene: ENSMUSG00000073916
AA Change: I39N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	8.7e-103	PFAM
Pfam:7TM_GPCR_Srsx	37	209	1.9e-10	PFAM
Pfam:7tm_1	43	295	2.7e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210138
AA Change: I39N

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211559

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214260
AA Change: I39N

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	C	A	17: 45,828,637 (GRCm39)	Q671K	probably benign	Het
Acaa2	A	G	18: 74,925,453 (GRCm39)	H72R	probably damaging	Het
Acad8	A	G	9: 26,910,740 (GRCm39)	L18P	probably benign	Het
Acap3	T	C	4: 155,983,879 (GRCm39)	V115A	possibly damaging	Het
Adamts9	T	C	6: 92,880,767 (GRCm39)	T503A	probably benign	Het
Adcy1	T	C	11: 7,111,337 (GRCm39)	F876S	probably damaging	Het
Adgrv1	T	C	13: 81,534,985 (GRCm39)	E5760G	probably damaging	Het
Ankrd26	A	T	6: 118,482,707 (GRCm39)	I1631K	probably damaging	Het
Ccdc150	A	G	1: 54,339,526 (GRCm39)	T457A	probably benign	Het
Cd163	T	C	6: 124,306,561 (GRCm39)	*1160R	probably null	Het
Cdc6	T	C	11: 98,811,589 (GRCm39)	S517P	probably damaging	Het
Cenpf	A	T	1: 189,392,166 (GRCm39)	D555E	possibly damaging	Het
Cfap251	A	G	5: 123,424,420 (GRCm39)	T205A	probably benign	Het
Clcn1	T	A	6: 42,269,900 (GRCm39)	I241N	probably damaging	Het
Clrn2	A	T	5: 45,621,061 (GRCm39)	I152F	probably benign	Het
Col4a4	A	G	1: 82,502,737 (GRCm39)	I349T	unknown	Het
Coq8b	T	A	7: 26,933,428 (GRCm39)	F96L	probably damaging	Het
Cp	A	T	3: 20,018,470 (GRCm39)	N58I	probably benign	Het
Dcst1	A	T	3: 89,263,718 (GRCm39)		probably null	Het
Dhrs3	A	T	4: 144,646,546 (GRCm39)	M199L	possibly damaging	Het
Dido1	A	T	2: 180,303,675 (GRCm39)	S1410T	probably benign	Het
Dnase1l2	C	T	17: 24,661,721 (GRCm39)	A13T	probably damaging	Het
Duox1	G	A	2: 122,163,916 (GRCm39)	R861Q	probably benign	Het
Eya2	A	G	2: 165,566,609 (GRCm39)	H220R	probably damaging	Het
Fas	T	G	19: 34,297,987 (GRCm39)		probably null	Het
Fezf1	T	A	6: 23,246,948 (GRCm39)	K295*	probably null	Het
Gldn	T	G	9: 54,245,721 (GRCm39)	I424R	possibly damaging	Het
Gnptab	T	C	10: 88,269,376 (GRCm39)	V693A	probably benign	Het
Gsdma	A	T	11: 98,563,852 (GRCm39)	T269S	probably benign	Het
Hectd4	A	T	5: 121,460,357 (GRCm39)	T2209S	probably benign	Het
Hoxd3	A	G	2: 74,577,173 (GRCm39)	N351S	probably benign	Het
Itpkc	T	A	7: 26,912,404 (GRCm39)	N581I	possibly damaging	Het
Kank3	G	T	17: 34,037,375 (GRCm39)	E226D	probably damaging	Het
Krtap5-1	A	G	7: 141,850,788 (GRCm39)	S7P	unknown	Het
Lrriq3	A	G	3: 154,869,587 (GRCm39)	Y304C	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mdn1	T	C	4: 32,678,330 (GRCm39)	S653P	probably damaging	Het
Mri1	A	T	8: 84,980,948 (GRCm39)	L194*	probably null	Het
Mtus1	T	C	8: 41,537,302 (GRCm39)	E138G	probably benign	Het
Myo3b	G	A	2: 70,117,285 (GRCm39)	R906Q	probably benign	Het
Nckipsd	C	T	9: 108,689,435 (GRCm39)	P199S	possibly damaging	Het
Or9i16	C	T	19: 13,865,116 (GRCm39)	V153I	possibly damaging	Het
Pacsin1	T	C	17: 27,925,045 (GRCm39)	L253P	probably damaging	Het
Pcca	T	A	14: 122,896,188 (GRCm39)	I268N	probably damaging	Het
Pcdhga8	A	G	18: 37,949,565 (GRCm39)	D327G	probably damaging	Het
Pcnx4	A	G	12: 72,626,232 (GRCm39)	H1146R	probably damaging	Het
Pnma8b	T	C	7: 16,680,362 (GRCm39)	S449P	probably benign	Het
Psmb9	T	C	17: 34,403,265 (GRCm39)	E61G	probably damaging	Het
Pxylp1	A	G	9: 96,721,203 (GRCm39)	Y101H	probably damaging	Het
Radil	A	G	5: 142,471,213 (GRCm39)	I1044T	probably damaging	Het
Rnf43	G	A	11: 87,622,561 (GRCm39)	R554H	probably damaging	Het
Sp5	A	T	2: 70,305,659 (GRCm39)	Q17L	probably null	Het
Spmip1	T	A	6: 29,471,908 (GRCm39)	L128Q	possibly damaging	Het
Strn	C	A	17: 78,977,276 (GRCm39)	V211F	probably damaging	Het
Sult3a1	A	G	10: 33,742,637 (GRCm39)	D88G	probably damaging	Het
Trim14	T	C	4: 46,522,136 (GRCm39)	I180M	probably benign	Het
Tsnax	C	A	8: 125,751,278 (GRCm39)	S90*	probably null	Het
Ttn	A	G	2: 76,798,780 (GRCm39)	M498T	probably benign	Het
Vmn1r198	T	A	13: 22,539,367 (GRCm39)	Y195*	probably null	Het
Vmn2r70	T	C	7: 85,215,199 (GRCm39)	T112A	probably benign	Het
Wwc2	T	C	8: 48,443,137 (GRCm39)	N32S	possibly damaging	Het
Yme1l1	G	T	2: 23,058,342 (GRCm39)	R158L	probably damaging	Het
Zc2hc1c	C	A	12: 85,336,483 (GRCm39)	H47N	probably damaging	Het
Zc3h10	C	A	10: 128,381,396 (GRCm39)		probably benign	Het
Zfp825	T	C	13: 74,629,007 (GRCm39)	R170G	probably benign	Het

Other mutations in Or52n5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Or52n5	APN	7	104,588,198 (GRCm39)	missense	possibly damaging	0.88
IGL01677:Or52n5	APN	7	104,587,852 (GRCm39)	missense	probably benign	0.01
IGL01900:Or52n5	APN	7	104,588,369 (GRCm39)	missense	probably damaging	1.00
IGL02270:Or52n5	APN	7	104,588,576 (GRCm39)	missense	possibly damaging	0.95
R0482:Or52n5	UTSW	7	104,588,021 (GRCm39)	missense	possibly damaging	0.56
R0970:Or52n5	UTSW	7	104,588,284 (GRCm39)	missense	probably benign	0.05
R4260:Or52n5	UTSW	7	104,587,803 (GRCm39)	missense	probably damaging	0.99
R4845:Or52n5	UTSW	7	104,588,570 (GRCm39)	missense	possibly damaging	0.95
R4947:Or52n5	UTSW	7	104,587,949 (GRCm39)	missense	possibly damaging	0.95
R5438:Or52n5	UTSW	7	104,588,344 (GRCm39)	missense	probably benign	0.03
R5735:Or52n5	UTSW	7	104,587,966 (GRCm39)	missense	probably benign	0.01
R6435:Or52n5	UTSW	7	104,588,041 (GRCm39)	missense	probably damaging	0.99
R6942:Or52n5	UTSW	7	104,588,104 (GRCm39)	missense	possibly damaging	0.56
R7061:Or52n5	UTSW	7	104,587,883 (GRCm39)	missense	probably damaging	1.00
R7122:Or52n5	UTSW	7	104,588,405 (GRCm39)	missense	probably damaging	0.99
R7378:Or52n5	UTSW	7	104,588,638 (GRCm39)	missense	probably benign	0.31
R7898:Or52n5	UTSW	7	104,588,573 (GRCm39)	missense	probably damaging	1.00
R8260:Or52n5	UTSW	7	104,587,879 (GRCm39)	missense	probably damaging	1.00
R8478:Or52n5	UTSW	7	104,588,477 (GRCm39)	missense	probably benign	0.00
R9289:Or52n5	UTSW	7	104,587,816 (GRCm39)	missense	probably damaging	1.00
R9356:Or52n5	UTSW	7	104,588,373 (GRCm39)	missense	probably benign	0.43
R9558:Or52n5	UTSW	7	104,588,615 (GRCm39)	missense	possibly damaging	0.91
R9607:Or52n5	UTSW	7	104,588,207 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCTGATCCTACTCATAAGTGTAATTCC -3'
(R):5'- ATCCGTGCACAAAGAACATCTG -3'

Sequencing Primer
(F):5'- AGTTTTAAATTTTCATCAGGAAAGCC -3'
(R):5'- GGCAAGCAGTGAAGTTAATTTCC -3'

Posted On

2017-02-28