Mutagenetix > Incidental Mutation

Incidental Mutation 'R5963:Or51b6'

471876

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

044148-MU

Accession Numbers

Essential gene?

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

Stock #

R5963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103555549-103556654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103556168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 174 (V174E)

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: V171E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000102477
Gene: ENSMUSG00000110259
AA Change: V171E

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: V174E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000214300
AA Change: V171E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.5071

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

99% (68/69)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	A	G	7: 97,029,037 (GRCm39)	K131E	probably benign	Het
Ank3	T	A	10: 69,823,056 (GRCm39)	L575*	probably null	Het
Aqr	T	C	2: 113,957,442 (GRCm39)	T819A	probably damaging	Het
Bbs2	A	T	8: 94,807,659 (GRCm39)	S407T	probably benign	Het
Bmper	T	A	9: 23,286,889 (GRCm39)	C272S	probably benign	Het
Btbd9	C	T	17: 30,553,192 (GRCm39)		probably null	Het
C5ar1	A	G	7: 15,982,747 (GRCm39)	V91A	possibly damaging	Het
Ccdc138	A	G	10: 58,411,579 (GRCm39)	H649R	possibly damaging	Het
Cfap43	A	T	19: 47,734,013 (GRCm39)	V1451E	probably benign	Het
Cfap46	T	A	7: 139,231,511 (GRCm39)	M901L	probably damaging	Het
Cherp	G	T	8: 73,215,379 (GRCm39)		probably benign	Het
D430041D05Rik	C	T	2: 104,078,630 (GRCm39)	V1229I	possibly damaging	Het
Fat4	A	C	3: 39,064,696 (GRCm39)	D4884A	probably damaging	Het
Fcrl5	T	C	3: 87,351,480 (GRCm39)	F243L	probably damaging	Het
Garem1	T	A	18: 21,262,487 (GRCm39)	I776F	probably benign	Het
Gpr87	T	A	3: 59,086,690 (GRCm39)	R272*	probably null	Het
Gsdmc	A	T	15: 63,651,965 (GRCm39)		probably null	Het
Hydin	T	A	8: 111,220,926 (GRCm39)	F1441I	possibly damaging	Het
Ints11	T	A	4: 155,957,369 (GRCm39)	C63*	probably null	Het
Kdm4b	A	T	17: 56,706,732 (GRCm39)	T908S	probably damaging	Het
Lipn	A	G	19: 34,058,700 (GRCm39)	D304G	probably damaging	Het
Man2a1	T	G	17: 64,982,117 (GRCm39)	N544K	probably benign	Het
Mapkapk5	G	T	5: 121,676,544 (GRCm39)	H66N	probably damaging	Het
Mog	G	A	17: 37,323,240 (GRCm39)	R233*	probably null	Het
Mrps24	A	T	11: 5,657,481 (GRCm39)		probably benign	Het
Nom1	T	C	5: 29,642,768 (GRCm39)	L423P	probably damaging	Het
Pcdha1	T	A	18: 37,064,224 (GRCm39)	V296E	probably damaging	Het
Pdcd2	T	C	17: 15,746,656 (GRCm39)	K168E	possibly damaging	Het
Pdcd2	G	T	17: 15,746,657 (GRCm39)	H167Q	probably damaging	Het
Pla2g12b	T	A	10: 59,239,780 (GRCm39)	V63D	probably damaging	Het
Pnn	C	T	12: 59,114,617 (GRCm39)	R56*	probably null	Het
Primpol	T	A	8: 47,046,615 (GRCm39)	E227V	possibly damaging	Het
Rad54l	A	T	4: 115,967,584 (GRCm39)	W233R	probably damaging	Het
Rims2	A	T	15: 39,300,578 (GRCm39)	D103V	probably damaging	Het
Rttn	T	C	18: 89,091,819 (GRCm39)	S1511P	probably benign	Het
Septin5	T	C	16: 18,442,962 (GRCm39)		probably null	Het
Simc1	T	A	13: 54,673,632 (GRCm39)	I660K	possibly damaging	Het
Slc15a5	A	G	6: 138,056,691 (GRCm39)	L75P	probably damaging	Het
Slc9a2	A	G	1: 40,721,196 (GRCm39)	S55G	possibly damaging	Het
Slit3	C	T	11: 35,591,063 (GRCm39)	R1292C	probably damaging	Het
Slitrk3	A	G	3: 72,958,046 (GRCm39)	V242A	probably benign	Het
St14	A	T	9: 31,017,853 (GRCm39)		probably benign	Het
Tnnt2	T	C	1: 135,771,600 (GRCm39)		probably benign	Het
Traf5	G	A	1: 191,731,977 (GRCm39)	T288I	probably benign	Het
Trerf1	C	T	17: 47,625,263 (GRCm39)		noncoding transcript	Het
Vegfc	A	G	8: 54,634,319 (GRCm39)	N333D	probably benign	Het
Vmn1r65	T	A	7: 6,011,608 (GRCm39)	I209F	probably damaging	Het
Vps51	A	G	19: 6,118,320 (GRCm39)	L725P	probably damaging	Het
Vps8	T	C	16: 21,288,871 (GRCm39)	I408T	possibly damaging	Het
Wdr72	T	C	9: 74,052,310 (GRCm39)	Y114H	probably damaging	Het
Ybx2	A	G	11: 69,831,918 (GRCm39)	E164G	probably damaging	Het
Zcchc14	A	T	8: 122,355,362 (GRCm39)		probably benign	Het
Zfp383	A	G	7: 29,615,103 (GRCm39)	T453A	possibly damaging	Het
Zfp84	G	T	7: 29,476,378 (GRCm39)	G357C	probably damaging	Het
Zmynd11	G	T	13: 9,745,931 (GRCm39)		probably benign	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
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'- GAAATTGGCCATGGAGCCTG -3'
(R):5'- CAATGCCCATGACAGTCTTG -3'

Sequencing Primer
(F):5'- ACACTCTCTCTATTGTGGAGTCGG -3'
(R):5'- TGCCCATGACAGTCTTGAGAATC -3'

Posted On

2017-03-31