Mutagenetix > Incidental Mutation

Incidental Mutation 'R0674:Or51b6'

218580

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

038859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R0674 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

103555549-103556654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103556462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 272 (V272A)

Ref Sequence

ENSEMBL: ENSMUSP00000147914 (fasta)

Gene Model

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

AlphaFold

A0A1B0GSF4

Predicted Effect

probably benign
Transcript: ENSMUST00000106864
AA Change: V269A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102477
Gene: ENSMUSG00000110259
AA Change: V269A

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 benign
Transcript: ENSMUST00000209528
AA Change: V272A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000214300
AA Change: V269A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0812

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.3%
20x: 90.4%

Validation Efficiency

97% (124/128)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	A	G	3: 89,657,130 (GRCm39)		probably benign	Het
Adgrl2	A	T	3: 148,543,315 (GRCm39)	M803K	possibly damaging	Het
Atp13a5	T	C	16: 29,067,102 (GRCm39)		probably benign	Het
Atp2a3	T	C	11: 72,872,711 (GRCm39)	I753T	probably damaging	Het
Bace2	G	A	16: 97,237,949 (GRCm39)	V467M	possibly damaging	Het
Bltp1	T	A	3: 37,098,775 (GRCm39)	V1134E	possibly damaging	Het
Ccser2	A	G	14: 36,640,548 (GRCm39)	C11R	possibly damaging	Het
Cd2ap	T	A	17: 43,156,283 (GRCm39)	I85F	possibly damaging	Het
Cd2bp2	C	T	7: 126,794,008 (GRCm39)	E94K	probably damaging	Het
Chrna3	C	A	9: 54,922,456 (GRCm39)	A451S	probably damaging	Het
Cmya5	C	A	13: 93,229,299 (GRCm39)	V1930F	probably damaging	Het
Csmd1	T	C	8: 16,050,550 (GRCm39)	T2229A	probably benign	Het
Csrnp2	A	T	15: 100,385,872 (GRCm39)	L122H	probably damaging	Het
Cyp11b2	G	A	15: 74,727,393 (GRCm39)	P96L	probably damaging	Het
Ddr1	G	T	17: 36,000,561 (GRCm39)	S368*	probably null	Het
E2f1	T	C	2: 154,406,029 (GRCm39)	K115E	probably damaging	Het
Erlec1	A	T	11: 30,885,073 (GRCm39)		probably benign	Het
Fus	T	A	7: 127,571,948 (GRCm39)		probably benign	Het
Gml	G	A	15: 74,685,709 (GRCm39)	T92I	probably damaging	Het
Herc1	T	C	9: 66,408,474 (GRCm39)	S4567P	probably damaging	Het
Iglc2	A	G	16: 19,017,591 (GRCm39)	S5P	probably benign	Het
Itgam	T	C	7: 127,715,390 (GRCm39)	V1028A	possibly damaging	Het
Krt222	T	A	11: 99,127,086 (GRCm39)	N178I	probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Luzp1	C	T	4: 136,270,768 (GRCm39)	T997I	possibly damaging	Het
Maml1	G	T	11: 50,148,885 (GRCm39)	Q952K	probably benign	Het
Map2	A	G	1: 66,452,361 (GRCm39)	E499G	probably damaging	Het
Map4k4	A	T	1: 40,042,975 (GRCm39)	H118L	probably damaging	Het
Myzap	T	C	9: 71,422,426 (GRCm39)	D382G	probably damaging	Het
Naip5	T	C	13: 100,359,707 (GRCm39)	T510A	probably benign	Het
Nek6	G	C	2: 38,448,916 (GRCm39)	G95R	possibly damaging	Het
Nphp3	T	C	9: 103,913,481 (GRCm39)		probably null	Het
Nr1d2	T	C	14: 18,215,086 (GRCm38)	S309G	probably benign	Het
Nrcam	A	T	12: 44,611,105 (GRCm39)	I570F	probably benign	Het
Oas1d	T	C	5: 121,058,049 (GRCm39)	I331T	probably benign	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or4f14	A	T	2: 111,743,018 (GRCm39)	F86I	probably benign	Het
Pex5l	A	T	3: 33,006,765 (GRCm39)	W535R	probably damaging	Het
Pisd	C	T	5: 32,931,781 (GRCm39)	R202H	probably benign	Het
Plxna2	A	G	1: 194,331,783 (GRCm39)	N403S	probably benign	Het
Prdm12	A	G	2: 31,533,924 (GRCm39)	I180M	probably benign	Het
Prpf6	A	G	2: 181,273,767 (GRCm39)	T304A	probably benign	Het
Ptprm	G	A	17: 67,498,336 (GRCm39)	T35I	possibly damaging	Het
Ptx3	T	A	3: 66,132,148 (GRCm39)	I223N	probably damaging	Het
Pygb	G	A	2: 150,657,054 (GRCm39)		probably null	Het
Qrsl1	A	G	10: 43,771,997 (GRCm39)		probably benign	Het
Rad51ap2	T	C	12: 11,508,818 (GRCm39)		probably null	Het
Ralbp1	C	T	17: 66,159,748 (GRCm39)	R505H	probably benign	Het
Rimbp3	T	C	16: 17,030,601 (GRCm39)	S1342P	probably benign	Het
Slc22a14	C	A	9: 119,007,608 (GRCm39)	R267L	probably damaging	Het
Slco6c1	T	A	1: 97,032,498 (GRCm39)		probably benign	Het
Tcp1	T	C	17: 13,142,131 (GRCm39)	I375T	probably damaging	Het
Tiparp	T	C	3: 65,460,586 (GRCm39)	I525T	probably benign	Het
Tjp2	A	G	19: 24,108,680 (GRCm39)	L144P	probably benign	Het
Tssk2	A	G	16: 17,716,930 (GRCm39)	D111G	probably benign	Het
Ttn	T	C	2: 76,775,823 (GRCm39)	T1740A	possibly damaging	Het
Vmn2r102	T	A	17: 19,898,129 (GRCm39)	D381E	probably benign	Het
Vsig10	C	T	5: 117,481,911 (GRCm39)	T367M	probably damaging	Het
Wnt11	T	C	7: 98,495,735 (GRCm39)	C80R	probably damaging	Het
Zar1	T	A	5: 72,737,643 (GRCm39)		probably null	Het
Zfp52	A	T	17: 21,782,108 (GRCm39)	H652L	probably damaging	Het
Zpr1	T	A	9: 46,186,747 (GRCm39)	L194Q	probably damaging	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
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
R7857:Or51b6	UTSW	7	103,555,817 (GRCm39)	missense
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'- CTGCGCTGACATCACATTCAATCG -3'
(R):5'- GCATGGGTACTTCTTCCTGCAACAC -3'

Sequencing Primer
(F):5'- GCAATGGTCTTGCTAGATTTCC -3'
(R):5'- CACTGTCACTATATTTACATTCCAGG -3'

Posted On

2014-08-18