Mutagenetix > Incidental Mutation

Incidental Mutation 'R1644:Or52n2b'

173750

Institutional Source

Beutler Lab

Gene Symbol

Or52n2b

Ensembl Gene

ENSMUSG00000056782

Gene Name

olfactory receptor family 52 subfamily N member 2B

Synonyms

MOR34-2, GA_x6K02T2PBJ9-7546146-7545166, Olfr667, MOR34-11

MMRRC Submission

039680-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R1644 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104565521-104566501 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 104566015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 163 (F163V)

Ref Sequence

ENSEMBL: ENSMUSP00000150340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071362] [ENSMUST00000217177]

AlphaFold

Q7TRP4

Predicted Effect

probably benign
Transcript: ENSMUST00000071362
AA Change: F163V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000100470
Gene: ENSMUSG00000056782
AA Change: F163V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	313	4.9e-102	PFAM
Pfam:7TM_GPCR_Srsx	37	310	1.2e-8	PFAM
Pfam:7tm_1	43	295	1.2e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211111

Predicted Effect

probably benign
Transcript: ENSMUST00000217177
AA Change: F163V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

98% (62/63)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	T	1: 11,484,814 (GRCm39)	R8*	probably null	Het
Acacb	A	T	5: 114,333,346 (GRCm39)	H490L	probably damaging	Het
Ace	C	A	11: 105,875,932 (GRCm39)	H417N	probably damaging	Het
Adamtsl3	A	G	7: 82,099,298 (GRCm39)	N151D	possibly damaging	Het
Agap1	A	G	1: 89,591,452 (GRCm39)	N114S	probably damaging	Het
Arap3	A	T	18: 38,117,298 (GRCm39)	V926D	probably damaging	Het
Arhgap12	A	T	18: 6,112,340 (GRCm39)	I8N	probably benign	Het
Arhgef17	A	T	7: 100,578,711 (GRCm39)	F746I	probably damaging	Het
Atp6v0a1	T	C	11: 100,929,612 (GRCm39)	S471P	possibly damaging	Het
Bdp1	A	G	13: 100,197,448 (GRCm39)	V979A	probably benign	Het
Ccdc88c	C	A	12: 100,879,733 (GRCm39)	R1789L	probably damaging	Het
Cckar	A	T	5: 53,857,215 (GRCm39)	N327K	probably benign	Het
Cfap65	T	C	1: 74,956,334 (GRCm39)	T1082A	probably damaging	Het
Clcn7	T	A	17: 25,378,672 (GRCm39)	I719N	probably damaging	Het
Col27a1	C	G	4: 63,246,868 (GRCm39)		probably benign	Het
Cspp1	C	T	1: 10,196,663 (GRCm39)	T179I	probably damaging	Het
Dnah1	C	T	14: 31,024,249 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,132,279 (GRCm39)	V1141A	probably benign	Het
Dusp4	A	G	8: 35,285,633 (GRCm39)	Y298C	probably damaging	Het
Efhc1	C	A	1: 21,037,625 (GRCm39)	Y267*	probably null	Het
Eif2s1	T	A	12: 78,913,295 (GRCm39)		probably null	Het
Epo	A	G	5: 137,481,417 (GRCm39)	V169A	possibly damaging	Het
Esr1	A	T	10: 4,951,380 (GRCm39)	Y586F	probably benign	Het
Fat2	T	C	11: 55,178,609 (GRCm39)	T1484A	possibly damaging	Het
Fat2	T	C	11: 55,187,007 (GRCm39)	T1280A	possibly damaging	Het
Gm5828	T	C	1: 16,839,485 (GRCm39)		noncoding transcript	Het
Idh3b	T	C	2: 130,123,430 (GRCm39)	I187V	possibly damaging	Het
Kif13a	A	C	13: 46,947,398 (GRCm39)	V862G	probably benign	Het
Kndc1	A	G	7: 139,510,669 (GRCm39)	D1327G	probably damaging	Het
Mfsd9	T	A	1: 40,812,958 (GRCm39)	R452S	probably benign	Het
Myh15	C	T	16: 48,952,566 (GRCm39)	R879C	probably benign	Het
Naip2	T	C	13: 100,319,437 (GRCm39)	R260G	possibly damaging	Het
Npat	T	G	9: 53,481,472 (GRCm39)	L1060R	probably damaging	Het
Or2aj4	T	A	16: 19,385,156 (GRCm39)	H159L	probably benign	Het
Or4c126	A	T	2: 89,824,297 (GRCm39)	T187S	possibly damaging	Het
Or4c15	A	T	2: 88,759,731 (GRCm39)	D309E	probably benign	Het
Or6f2	T	C	7: 139,756,561 (GRCm39)	V176A	probably benign	Het
Pld5	T	C	1: 175,803,192 (GRCm39)	T296A	possibly damaging	Het
Polq	C	T	16: 36,880,626 (GRCm39)	A651V	probably damaging	Het
Polr3a	G	A	14: 24,520,692 (GRCm39)	P607S	probably damaging	Het
Ranbp9	G	A	13: 43,566,015 (GRCm39)	R424C	probably damaging	Het
Rsl1	G	A	13: 67,325,229 (GRCm39)		probably benign	Het
Sema4c	A	G	1: 36,589,885 (GRCm39)	S490P	probably damaging	Het
Setd3	A	T	12: 108,079,603 (GRCm39)	L300Q	possibly damaging	Het
Slc15a3	T	C	19: 10,834,595 (GRCm39)	I492T	possibly damaging	Het
Stag1	T	C	9: 100,762,953 (GRCm39)		probably benign	Het
Tgm4	A	G	9: 122,880,481 (GRCm39)	Y294C	probably damaging	Het
Tm9sf1	A	G	14: 55,878,757 (GRCm39)	S212P	probably benign	Het
Tmcc1	A	G	6: 116,110,826 (GRCm39)	S156P	probably damaging	Het
Vmn1r184	A	C	7: 25,966,670 (GRCm39)	M139L	probably benign	Het
Vmn1r209	A	C	13: 22,990,652 (GRCm39)	F13V	possibly damaging	Het
Xkr5	T	C	8: 18,984,141 (GRCm39)	E467G	probably benign	Het
Zdbf2	C	T	1: 63,348,131 (GRCm39)	S2170L	possibly damaging	Het
Zfp277	G	T	12: 40,379,609 (GRCm39)		probably null	Het
Zfp62	T	C	11: 49,106,596 (GRCm39)	I229T	probably damaging	Het
Zfp810	A	G	9: 22,190,324 (GRCm39)	S195P	possibly damaging	Het
Zfp94	G	A	7: 24,010,927 (GRCm39)		probably benign	Het

Other mutations in Or52n2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02707:Or52n2b	APN	7	104,565,859 (GRCm39)	missense	probably damaging	1.00
R0457:Or52n2b	UTSW	7	104,566,180 (GRCm39)	missense	probably benign	0.19
R0684:Or52n2b	UTSW	7	104,565,841 (GRCm39)	missense	probably benign	0.21
R1343:Or52n2b	UTSW	7	104,565,834 (GRCm39)	missense	probably damaging	1.00
R1401:Or52n2b	UTSW	7	104,565,963 (GRCm39)	missense	probably damaging	1.00
R1415:Or52n2b	UTSW	7	104,565,543 (GRCm39)	missense	probably benign	0.03
R1907:Or52n2b	UTSW	7	104,566,272 (GRCm39)	missense	probably damaging	0.99
R2063:Or52n2b	UTSW	7	104,565,982 (GRCm39)	missense	probably benign	0.02
R3774:Or52n2b	UTSW	7	104,566,113 (GRCm39)	missense	probably benign	0.01
R4751:Or52n2b	UTSW	7	104,565,617 (GRCm39)	nonsense	probably null
R4958:Or52n2b	UTSW	7	104,565,668 (GRCm39)	missense	probably damaging	0.97
R4960:Or52n2b	UTSW	7	104,565,915 (GRCm39)	missense	probably benign	0.02
R5362:Or52n2b	UTSW	7	104,565,834 (GRCm39)	missense	probably damaging	1.00
R5988:Or52n2b	UTSW	7	104,566,125 (GRCm39)	missense	probably damaging	0.98
R7396:Or52n2b	UTSW	7	104,565,558 (GRCm39)	missense	probably benign
R8169:Or52n2b	UTSW	7	104,565,619 (GRCm39)	missense	possibly damaging	0.60
R8517:Or52n2b	UTSW	7	104,565,681 (GRCm39)	missense	possibly damaging	0.80
R8722:Or52n2b	UTSW	7	104,565,708 (GRCm39)	missense	probably benign	0.03
R9461:Or52n2b	UTSW	7	104,565,583 (GRCm39)	missense	probably benign	0.06
Z1088:Or52n2b	UTSW	7	104,565,873 (GRCm39)	missense	probably benign	0.06
Z1177:Or52n2b	UTSW	7	104,566,326 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AGCATCAGCAGAAGACAGGTTCATC -3'
(R):5'- AGCCAATATGTCTGAAGCCAACAGC -3'

Sequencing Primer
(F):5'- GAAGACAGGTTCATCACTGCTC -3'
(R):5'- GAAGATGCACATGTCTGGATCTC -3'

Posted On

2014-04-24