Mutagenetix > Incidental Mutation

Incidental Mutation 'R2338:Or51b6b'

246630

Institutional Source

Beutler Lab

Gene Symbol

Or51b6b

Ensembl Gene

ENSMUSG00000099687

Gene Name

olfactory receptor family 51 subfamily B member 6B

Synonyms

Olfr623, GA_x6K02T2PBJ9-6384836-6383883, MOR1-4

MMRRC Submission

040324-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R2338 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103309451-103310525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103309617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 280 (I280N)

Ref Sequence

ENSEMBL: ENSMUSP00000150141 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068531] [ENSMUST00000213840]

AlphaFold

E9Q382

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068531
AA Change: I280N

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070658
Gene: ENSMUSG00000099687
AA Change: I280N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	310	1.7e-112	PFAM
Pfam:7TM_GPCR_Srsx	36	299	3.1e-7	PFAM
Pfam:7tm_1	42	293	2.6e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213840
AA Change: I280N

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.4131

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.5%

Validation Efficiency

98% (53/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	G	14: 35,817,109 (GRCm39)	D53G	probably benign	Het
A1cf	C	T	19: 31,909,945 (GRCm39)	P330S	probably benign	Het
Acta2	A	G	19: 34,225,941 (GRCm39)		probably benign	Het
Actrt3	A	G	3: 30,651,985 (GRCm39)	*370R	probably null	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Btbd8	T	C	5: 107,658,440 (GRCm39)	L1158S	probably damaging	Het
Cadps2	C	G	6: 23,838,977 (GRCm39)		probably benign	Het
Camsap3	C	T	8: 3,656,808 (GRCm39)	R1048C	probably damaging	Het
Cdkl2	C	T	5: 92,181,538 (GRCm39)	A148T	possibly damaging	Het
Dab2	T	A	15: 6,464,733 (GRCm39)	I395K	possibly damaging	Het
Dclk2	A	G	3: 86,706,324 (GRCm39)	F589S	probably damaging	Het
Ddx60	T	C	8: 62,465,470 (GRCm39)	S1376P	possibly damaging	Het
Eprs1	T	C	1: 185,148,005 (GRCm39)	F1256L	probably damaging	Het
Etaa1	A	T	11: 17,895,605 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,202,727 (GRCm39)	T116A	possibly damaging	Het
Fem1al	C	A	11: 29,773,718 (GRCm39)	A580S	probably benign	Het
Fmnl3	T	C	15: 99,268,108 (GRCm39)	T26A	probably benign	Het
Foxp1	A	G	6: 98,980,254 (GRCm39)	V158A	possibly damaging	Het
G6pd2	T	A	5: 61,967,351 (GRCm39)	D375E	probably benign	Het
Gne	C	T	4: 44,042,196 (GRCm39)	A460T	probably damaging	Het
Gprin1	T	A	13: 54,886,238 (GRCm39)		probably null	Het
Hecw2	T	C	1: 53,943,581 (GRCm39)	M949V	possibly damaging	Het
Herc1	G	A	9: 66,336,251 (GRCm39)	V1599M	possibly damaging	Het
Hk2	A	C	6: 82,708,096 (GRCm39)	N628K	probably damaging	Het
Hmcn1	T	C	1: 150,498,685 (GRCm39)	T4065A	possibly damaging	Het
Ipo8	T	A	6: 148,691,321 (GRCm39)	Q683L	probably benign	Het
Krt81	A	G	15: 101,361,217 (GRCm39)	I121T	probably benign	Het
Lamb2	T	C	9: 108,359,340 (GRCm39)	L322P	probably benign	Het
Lilrb4a	A	G	10: 51,367,796 (GRCm39)	M113V	probably benign	Het
Mnat1	G	A	12: 73,265,917 (GRCm39)		probably null	Het
Mucl1	T	A	15: 103,783,964 (GRCm39)	T68S	possibly damaging	Het
Npnt	G	T	3: 132,597,170 (GRCm39)	D461E	probably damaging	Het
Nrp1	A	T	8: 129,224,385 (GRCm39)	Q716L	probably benign	Het
Or11g25	A	G	14: 50,723,097 (GRCm39)	T61A	possibly damaging	Het
Or12k5	T	G	2: 36,895,159 (GRCm39)	S156R	probably damaging	Het
Podxl2	T	C	6: 88,826,178 (GRCm39)	Q376R	probably damaging	Het
Pudp	T	C	18: 50,701,646 (GRCm39)	D29G	probably benign	Het
Rrs1	C	A	1: 9,616,026 (GRCm39)		probably null	Het
S1pr3	T	C	13: 51,573,614 (GRCm39)	I265T	possibly damaging	Het
Scgb1b2	A	T	7: 30,991,038 (GRCm39)	C23*	probably null	Het
Spag8	G	T	4: 43,652,826 (GRCm39)	R212S	probably benign	Het
Tacc2	A	G	7: 130,335,299 (GRCm39)		probably null	Het
Trmt1l	C	T	1: 151,304,710 (GRCm39)		probably benign	Het
Trpa1	A	T	1: 14,954,469 (GRCm39)	L810Q	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ugt3a1	T	A	15: 9,292,059 (GRCm39)		probably benign	Het
Vmn2r23	T	G	6: 123,681,384 (GRCm39)	I97M	possibly damaging	Het
Vmn2r65	A	T	7: 84,590,051 (GRCm39)	F622I	possibly damaging	Het
Vps13a	C	T	19: 16,697,817 (GRCm39)	G766E	probably damaging	Het
Wnk1	T	C	6: 119,946,495 (GRCm39)	T553A	probably benign	Het
Xirp2	T	A	2: 67,341,114 (GRCm39)	D1118E	probably damaging	Het
Zfyve9	A	C	4: 108,517,811 (GRCm39)	D461E	probably damaging	Het

Other mutations in Or51b6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Or51b6b	APN	7	103,310,274 (GRCm39)	missense	probably damaging	0.99
IGL01669:Or51b6b	APN	7	103,310,194 (GRCm39)	missense	probably benign	0.02
IGL01731:Or51b6b	APN	7	103,310,053 (GRCm39)	missense	probably benign	0.01
IGL02057:Or51b6b	APN	7	103,309,860 (GRCm39)	missense	probably damaging	1.00
IGL02249:Or51b6b	APN	7	103,309,573 (GRCm39)	missense	probably damaging	0.99
IGL02937:Or51b6b	APN	7	103,310,112 (GRCm39)	missense	probably damaging	1.00
IGL03113:Or51b6b	APN	7	103,309,851 (GRCm39)	missense	possibly damaging	0.90
R0413:Or51b6b	UTSW	7	103,309,957 (GRCm39)	missense	possibly damaging	0.52
R0862:Or51b6b	UTSW	7	103,309,735 (GRCm39)	missense	probably damaging	1.00
R1262:Or51b6b	UTSW	7	103,309,648 (GRCm39)	missense	probably benign	0.33
R1791:Or51b6b	UTSW	7	103,310,005 (GRCm39)	splice site	probably null
R2327:Or51b6b	UTSW	7	103,309,779 (GRCm39)	missense	probably damaging	1.00
R4521:Or51b6b	UTSW	7	103,309,539 (GRCm39)	missense	probably benign	0.01
R4831:Or51b6b	UTSW	7	103,309,678 (GRCm39)	missense	probably benign	0.40
R5322:Or51b6b	UTSW	7	103,309,879 (GRCm39)	missense	possibly damaging	0.62
R6270:Or51b6b	UTSW	7	103,309,620 (GRCm39)	missense	possibly damaging	0.48
R6959:Or51b6b	UTSW	7	103,310,050 (GRCm39)	missense	probably damaging	1.00
R7157:Or51b6b	UTSW	7	103,309,788 (GRCm39)	missense	probably damaging	1.00
R7181:Or51b6b	UTSW	7	103,310,020 (GRCm39)	missense	probably damaging	0.99
R7570:Or51b6b	UTSW	7	103,310,088 (GRCm39)	missense	probably damaging	1.00
R9037:Or51b6b	UTSW	7	103,310,382 (GRCm39)	missense	probably benign	0.32
R9234:Or51b6b	UTSW	7	103,309,950 (GRCm39)	missense	possibly damaging	0.96
R9525:Or51b6b	UTSW	7	103,310,142 (GRCm39)	missense	probably damaging	1.00
X0066:Or51b6b	UTSW	7	103,309,867 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- TGCCTGAAATGTTGTCGACTTG -3'
(R):5'- TGTGCTGACATCACATTCAATC -3'

Sequencing Primer
(F):5'- GTTGTCGACTTGATCAAATATCAGG -3'
(R):5'- ATTTTGATTCTCAAGACTGTCATGGG -3'

Posted On

2014-10-30