Mutagenetix > Incidental Mutation

Incidental Mutation 'R4208:Or52n3'

319029

Institutional Source

Beutler Lab

Gene Symbol

Or52n3

Ensembl Gene

ENSMUSG00000073917

Gene Name

olfactory receptor family 52 subfamily N member 3

Synonyms

MOR34-7, Olfr665, GA_x6K02T2PBJ9-7509539-7510489

MMRRC Submission

041037-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R4208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104529916-104530866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104530810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 299 (T299A)

Ref Sequence

ENSEMBL: ENSMUSP00000150229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098165] [ENSMUST00000215761] [ENSMUST00000216257] [ENSMUST00000216971]

AlphaFold

Q8VG79

Predicted Effect

probably damaging
Transcript: ENSMUST00000098165
AA Change: T299A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095768
Gene: ENSMUSG00000073917
AA Change: T299A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	6.4e-105	PFAM
Pfam:7TM_GPCR_Srsx	37	310	1e-5	PFAM
Pfam:7tm_1	43	295	1.4e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215761
AA Change: T299A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216257
AA Change: T299A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216971
AA Change: T299A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

Validation Efficiency

100% (57/57)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,910,060 (GRCm39)	L284P	probably benign	Het
Abca8b	G	A	11: 109,872,551 (GRCm39)	Q17*	probably null	Het
Abcc6	A	C	7: 45,635,987 (GRCm39)	L1020R	probably damaging	Het
Ace2	A	G	X: 162,952,581 (GRCm39)	I110V	probably benign	Het
Adamts12	A	G	15: 11,071,840 (GRCm39)	H128R	probably benign	Het
Aoc1l2	A	T	6: 48,908,581 (GRCm39)	D527V	probably damaging	Het
Apol9a	G	C	15: 77,288,596 (GRCm39)	T257S	probably benign	Het
B4galnt3	A	G	6: 120,192,063 (GRCm39)	S557P	probably damaging	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Casp12	T	C	9: 5,346,629 (GRCm39)	L52P	probably damaging	Het
Cep126	C	T	9: 8,100,822 (GRCm39)	E571K	probably damaging	Het
Cfhr1	A	G	1: 139,475,616 (GRCm39)		probably benign	Het
Cmah	A	G	13: 24,601,410 (GRCm39)		probably null	Het
Col10a1	C	T	10: 34,271,539 (GRCm39)	P504S	probably damaging	Het
Ctnna3	T	A	10: 64,795,557 (GRCm39)	D758E	probably benign	Het
Cyp2c65	T	C	19: 39,079,099 (GRCm39)	S393P	probably damaging	Het
Dclk2	A	G	3: 86,738,129 (GRCm39)		probably null	Het
Dis3	T	G	14: 99,332,752 (GRCm39)	I227L	probably benign	Het
Efhc2	T	C	X: 17,096,789 (GRCm39)	N186S	possibly damaging	Het
F13b	G	T	1: 139,444,079 (GRCm39)	W471L	probably damaging	Het
Fam181a	A	G	12: 103,282,173 (GRCm39)	D26G	probably damaging	Het
Gabpb2	A	G	3: 95,111,245 (GRCm39)		probably benign	Het
Gm7293	A	G	9: 51,534,879 (GRCm39)		noncoding transcript	Het
H3f3a	C	T	1: 180,630,703 (GRCm39)	R117H	probably benign	Het
Ino80b	G	C	6: 83,099,314 (GRCm39)	P178R	probably damaging	Het
Kif3b	G	A	2: 153,165,477 (GRCm39)	R628Q	probably damaging	Het
Lars1	T	C	18: 42,362,768 (GRCm39)	E557G	probably benign	Het
Ldlrad3	C	T	2: 101,783,507 (GRCm39)	D240N	probably damaging	Het
Lingo2	T	C	4: 35,709,810 (GRCm39)	I57V	probably benign	Het
Lsr	A	G	7: 30,672,519 (GRCm39)	I27T	probably benign	Het
Me2	T	C	18: 73,924,156 (GRCm39)	K352R	probably benign	Het
Met	T	C	6: 17,548,728 (GRCm39)	V924A	possibly damaging	Het
Mpp3	T	C	11: 101,891,426 (GRCm39)	T571A	probably benign	Het
Or4c1	A	T	2: 89,133,270 (GRCm39)	I222N	probably damaging	Het
Padi1	C	A	4: 140,544,538 (GRCm39)	V552L	possibly damaging	Het
Pfkfb1	A	T	X: 149,405,184 (GRCm39)	D208V	possibly damaging	Het
Rnase4	A	G	14: 51,342,462 (GRCm39)	K62R	probably benign	Het
RP24-126A19.1	C	A	5: 146,832,606 (GRCm39)	R123L	noncoding transcript	Het
Scn10a	T	A	9: 119,445,842 (GRCm39)	E1438V	probably damaging	Het
Sfmbt2	T	A	2: 10,547,793 (GRCm39)	D458E	probably damaging	Het
Slitrk3	T	A	3: 72,958,490 (GRCm39)	Y94F	possibly damaging	Het
Sstr2	A	C	11: 113,515,482 (GRCm39)	T134P	probably damaging	Het
Steap4	A	G	5: 8,030,404 (GRCm39)	Y420C	probably damaging	Het
Tamm41	AGGG	AGG	6: 114,989,320 (GRCm39)		probably benign	Het
Trav7-3	A	G	14: 53,681,203 (GRCm39)	T82A	probably benign	Het
Trbv23	A	T	6: 41,193,022 (GRCm39)	I6F	probably benign	Het
Vmn1r87	A	G	7: 12,866,185 (GRCm39)	V34A	probably benign	Het
Zc3h7a	C	T	16: 10,982,508 (GRCm39)	E6K	possibly damaging	Het
Zfp606	G	A	7: 12,228,102 (GRCm39)	C683Y	probably damaging	Het

Other mutations in Or52n3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Or52n3	APN	7	104,530,724 (GRCm39)	missense	probably benign	0.01
IGL01408:Or52n3	APN	7	104,530,037 (GRCm39)	missense	probably benign	0.02
IGL02022:Or52n3	APN	7	104,530,141 (GRCm39)	missense	probably damaging	1.00
R0349:Or52n3	UTSW	7	104,530,199 (GRCm39)	missense	possibly damaging	0.48
R0585:Or52n3	UTSW	7	104,530,706 (GRCm39)	missense	probably damaging	1.00
R1518:Or52n3	UTSW	7	104,530,515 (GRCm39)	nonsense	probably null
R1659:Or52n3	UTSW	7	104,530,387 (GRCm39)	missense	probably benign	0.00
R1727:Or52n3	UTSW	7	104,530,721 (GRCm39)	missense	probably benign	0.11
R1762:Or52n3	UTSW	7	104,530,447 (GRCm39)	missense	probably damaging	0.99
R4052:Or52n3	UTSW	7	104,530,810 (GRCm39)	missense	probably damaging	0.99
R5486:Or52n3	UTSW	7	104,530,168 (GRCm39)	missense	probably benign	0.02
R5513:Or52n3	UTSW	7	104,530,706 (GRCm39)	missense	probably damaging	1.00
R6148:Or52n3	UTSW	7	104,530,289 (GRCm39)	missense	possibly damaging	0.84
R6593:Or52n3	UTSW	7	104,530,640 (GRCm39)	missense	probably damaging	1.00
R7143:Or52n3	UTSW	7	104,530,393 (GRCm39)	missense	probably damaging	1.00
R7189:Or52n3	UTSW	7	104,530,348 (GRCm39)	nonsense	probably null
R7413:Or52n3	UTSW	7	104,530,057 (GRCm39)	missense	probably benign	0.07
R8690:Or52n3	UTSW	7	104,530,762 (GRCm39)	missense	probably damaging	1.00
R8819:Or52n3	UTSW	7	104,530,862 (GRCm39)	missense	possibly damaging	0.90
R8820:Or52n3	UTSW	7	104,530,862 (GRCm39)	missense	possibly damaging	0.90
R9430:Or52n3	UTSW	7	104,530,204 (GRCm39)	missense	possibly damaging	0.92
R9464:Or52n3	UTSW	7	104,530,050 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTACCTGTACATCACACATATGTG -3'
(R):5'- TCCATGAGCTCCAAGACAGC -3'

Sequencing Primer
(F):5'- GCTATTGTTATTACCTATGTCCCAG -3'
(R):5'- CAAGACAGCTATATTAGACTCATGC -3'

Posted On

2015-06-10