Mutagenetix > Incidental Mutation

Incidental Mutation 'R7857:Or51b6'

607279

Institutional Source

Beutler Lab

Gene Symbol

Or51b6

Ensembl Gene

ENSMUSG00000110259

Gene Name

olfactory receptor family 51 subfamily B member 6

Synonyms

MOR1-2, Olfr65, 5'[b]3, GA_x6K02T2PBJ9-6634906-6633983

MMRRC Submission

045910-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R7857 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103555549-103556654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103555817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 54 (H54L)

Ref Sequence

ENSEMBL: ENSMUSP00000102477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106864] [ENSMUST00000209528] [ENSMUST00000214300]

AlphaFold

A0A1B0GSF4

Predicted Effect

SMART Domains

Protein: ENSMUSP00000102477
Gene: ENSMUSG00000110259
AA Change: H54L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	310	2.1e-113	PFAM
Pfam:7TM_GPCR_Srsx	36	300	5.6e-7	PFAM
Pfam:7tm_1	42	293	5.9e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209528
AA Change: H57L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,454,104 (GRCm39)	N307I	probably benign	Het
Ahnak	G	A	19: 8,984,832 (GRCm39)	V2039M	probably damaging	Het
Arhgef40	T	A	14: 52,226,212 (GRCm39)	H85Q	probably damaging	Het
Ash1l	T	A	3: 88,891,616 (GRCm39)	L1165*	probably null	Het
Cck	A	G	9: 121,322,514 (GRCm39)	W100R	probably damaging	Het
Cdon	A	G	9: 35,367,908 (GRCm39)	R268G	possibly damaging	Het
Cldn12	T	C	5: 5,558,209 (GRCm39)	T73A	probably benign	Het
Cnot1	ACG	A	8: 96,472,275 (GRCm39)		probably null	Het
Ctnnd2	A	T	15: 30,620,076 (GRCm39)	T143S	probably benign	Het
Cyp2b13	T	A	7: 25,788,153 (GRCm39)	L427Q	possibly damaging	Het
Dnah3	A	T	7: 119,550,927 (GRCm39)	Y152N	probably damaging	Het
Dsg1b	A	T	18: 20,529,520 (GRCm39)	M322L	probably benign	Het
Efhc1	T	C	1: 21,045,226 (GRCm39)	M414T	probably benign	Het
Elp3	G	A	14: 65,800,759 (GRCm39)	T302M	probably benign	Het
Entpd6	T	C	2: 150,607,473 (GRCm39)		probably null	Het
Epb41l4a	G	T	18: 34,139,098 (GRCm39)	C13*	probably null	Het
Ephb6	T	C	6: 41,590,331 (GRCm39)	S28P	probably benign	Het
Fbxo21	T	C	5: 118,126,878 (GRCm39)	S210P	probably benign	Het
Gapvd1	T	A	2: 34,619,079 (GRCm39)	E98V	probably benign	Het
Gcdh	A	G	8: 85,619,093 (GRCm39)	V157A	probably damaging	Het
Gm10638	G	T	8: 87,472,891 (GRCm39)	R188L	unknown	Het
Grk3	T	C	5: 113,109,427 (GRCm39)	T177A	unknown	Het
Gsc	T	G	12: 104,438,424 (GRCm39)	E148A	probably damaging	Het
Hacd4	C	T	4: 88,355,702 (GRCm39)	G61E	probably damaging	Het
Herc3	G	A	6: 58,820,637 (GRCm39)	W7*	probably null	Het
Il1rl2	T	C	1: 40,366,642 (GRCm39)	Y59H	probably benign	Het
Irag1	T	A	7: 110,522,742 (GRCm39)	K234*	probably null	Het
Kif1c	A	G	11: 70,619,103 (GRCm39)	T913A	probably benign	Het
Lipg	C	T	18: 75,078,891 (GRCm39)	G454R	probably damaging	Het
Lrrc74a	A	G	12: 86,788,485 (GRCm39)	D155G	probably benign	Het
Ltf	A	T	9: 110,851,444 (GRCm39)	I137F	probably benign	Het
Med19	T	A	2: 84,515,969 (GRCm39)	M166K	probably damaging	Het
Mei1	A	T	15: 81,976,918 (GRCm39)	Y167F	not run	Het
Ncaph	A	C	2: 126,946,165 (GRCm39)	D724E	probably damaging	Het
Neb	T	A	2: 52,112,996 (GRCm39)	D4266V	probably damaging	Het
Npffr1	G	T	10: 61,449,765 (GRCm39)	W13L	probably benign	Het
Pcdha12	A	T	18: 37,155,468 (GRCm39)	D729V	probably benign	Het
Pcdha7	A	T	18: 37,108,892 (GRCm39)	E639V	probably damaging	Het
Pcdhb18	A	T	18: 37,624,364 (GRCm39)	M565L	probably benign	Het
Plcd3	A	T	11: 102,968,760 (GRCm39)	D310E	probably benign	Het
Pmm2	C	G	16: 8,460,632 (GRCm39)	Q29E	probably benign	Het
Poli	T	G	18: 70,642,225 (GRCm39)	E658D	probably benign	Het
Prss22	G	A	17: 24,212,853 (GRCm39)	R295C	probably damaging	Het
Psg26	A	G	7: 18,212,215 (GRCm39)	I380T	possibly damaging	Het
Reep5	A	T	18: 34,505,521 (GRCm39)	V50E	possibly damaging	Het
Rfx7	A	G	9: 72,500,605 (GRCm39)	T122A	possibly damaging	Het
Robo1	A	G	16: 72,767,099 (GRCm39)	N424D	probably damaging	Het
Slc4a7	T	C	14: 14,772,624 (GRCm38)	V711A	probably benign	Het
Smc4	T	C	3: 68,940,552 (GRCm39)	V1162A	possibly damaging	Het
Snta1	A	T	2: 154,225,817 (GRCm39)	L189H	probably benign	Het
Tmem121	C	T	12: 113,152,696 (GRCm39)	R305C	possibly damaging	Het
Tmem68	A	G	4: 3,551,825 (GRCm39)	V271A	probably damaging	Het
Tmx4	T	G	2: 134,481,582 (GRCm39)	M114L	probably benign	Het
Trps1	T	A	15: 50,524,401 (GRCm39)	R1176S	probably damaging	Het
Usp21	A	G	1: 171,114,335 (GRCm39)	L63P	probably benign	Het
Vmn2r84	T	A	10: 130,226,738 (GRCm39)	M367L	probably benign	Het
Wbp2nl	A	G	15: 82,190,273 (GRCm39)	N67S	probably benign	Het
Wdr35	T	C	12: 9,058,113 (GRCm39)		probably null	Het
Zfp236	G	A	18: 82,686,726 (GRCm39)	Q271*	probably null	Het
Zfp831	T	C	2: 174,547,035 (GRCm39)	V1406A	probably benign	Het
Zfp934	G	A	13: 62,665,361 (GRCm39)	H459Y		Het

Other mutations in Or51b6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01079:Or51b6	APN	7	103,555,669 (GRCm39)	missense	probably benign
IGL02830:Or51b6	APN	7	103,555,651 (GRCm39)	missense	probably benign	0.32
IGL03238:Or51b6	APN	7	103,555,717 (GRCm39)	missense	probably benign
R0674:Or51b6	UTSW	7	103,556,462 (GRCm39)	missense	probably benign	0.01
R1711:Or51b6	UTSW	7	103,555,906 (GRCm39)	missense	probably damaging	1.00
R2018:Or51b6	UTSW	7	103,556,249 (GRCm39)	missense	possibly damaging	0.88
R2363:Or51b6	UTSW	7	103,556,267 (GRCm39)	missense	probably benign	0.19
R2968:Or51b6	UTSW	7	103,556,519 (GRCm39)	missense	probably benign	0.01
R2970:Or51b6	UTSW	7	103,556,519 (GRCm39)	missense	probably benign	0.01
R3746:Or51b6	UTSW	7	103,556,267 (GRCm39)	missense	probably benign	0.19
R4928:Or51b6	UTSW	7	103,555,879 (GRCm39)	missense	probably damaging	1.00
R5092:Or51b6	UTSW	7	103,556,406 (GRCm39)	nonsense	probably null
R5635:Or51b6	UTSW	7	103,555,845 (GRCm39)	missense	probably benign	0.05
R5881:Or51b6	UTSW	7	103,555,883 (GRCm39)	missense	probably damaging	0.98
R5963:Or51b6	UTSW	7	103,556,168 (GRCm39)	missense	probably benign	0.02
R5969:Or51b6	UTSW	7	103,556,117 (GRCm39)	missense	probably damaging	0.98
R6859:Or51b6	UTSW	7	103,555,908 (GRCm39)	nonsense	probably null
R8065:Or51b6	UTSW	7	103,555,610 (GRCm39)	start gained	probably benign
R8067:Or51b6	UTSW	7	103,555,610 (GRCm39)	start gained	probably benign
R8381:Or51b6	UTSW	7	103,556,146 (GRCm39)	missense
R8501:Or51b6	UTSW	7	103,555,818 (GRCm39)	missense
R8737:Or51b6	UTSW	7	103,555,913 (GRCm39)	missense
R8796:Or51b6	UTSW	7	103,556,201 (GRCm39)	missense
R9007:Or51b6	UTSW	7	103,556,165 (GRCm39)	missense
R9455:Or51b6	UTSW	7	103,556,200 (GRCm39)	missense
R9591:Or51b6	UTSW	7	103,556,470 (GRCm39)	missense
X0065:Or51b6	UTSW	7	103,556,423 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTGCAATGCCTTCAATGTGG -3'
(R):5'- ATACCTTAGTGGGTTGCGAATG -3'

Sequencing Primer
(F):5'- AATGCCTTCAATGTGGCTCAAC -3'
(R):5'- TCATAGGCCATGGCAAGC -3'

Posted On

2019-12-20