Mutagenetix > Incidental Mutation

Incidental Mutation 'R5322:Or51b6b'

404902

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

042905-MU

Accession Numbers

Essential gene?

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

Stock #

R5322 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103309451-103310525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103309879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 193 (I193V)

Ref Sequence

ENSEMBL: ENSMUSP00000150141 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062144] [ENSMUST00000068531] [ENSMUST00000213840]

AlphaFold

E9Q382

Predicted Effect

probably benign
Transcript: ENSMUST00000062144

SMART Domains

Protein: ENSMUSP00000049938
Gene: ENSMUSG00000045780

Domain	Start	End	E-Value	Type
Pfam:7tm_4	27	306	3.3e-138	PFAM
Pfam:7tm_1	37	288	1.8e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068531
AA Change: I193V

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000070658
Gene: ENSMUSG00000099687
AA Change: I193V

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: I193V

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	T	5: 89,855,159 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,729,545 (GRCm39)		probably null	Het
Ankrd60	T	A	2: 173,410,610 (GRCm39)	K303N	possibly damaging	Het
Appbp2	A	G	11: 85,086,890 (GRCm39)		probably null	Het
Arvcf	T	C	16: 18,215,508 (GRCm39)	M176T	probably benign	Het
Cachd1	T	C	4: 100,809,319 (GRCm39)	I268T	probably damaging	Het
Ccdc66	A	G	14: 27,204,484 (GRCm39)	S933P	probably damaging	Het
Cfi	C	T	3: 129,666,689 (GRCm39)	P471S	probably damaging	Het
Ckmt2	G	T	13: 92,009,891 (GRCm39)	T143K	possibly damaging	Het
Cnksr3	A	T	10: 7,085,078 (GRCm39)	D15E	probably damaging	Het
Copb2	A	T	9: 98,468,029 (GRCm39)	K680N	probably benign	Het
D2hgdh	T	C	1: 93,757,620 (GRCm39)		probably null	Het
Dcn	A	T	10: 97,353,464 (GRCm39)	T338S	probably benign	Het
Dipk2a	A	G	9: 94,402,615 (GRCm39)	I349T	probably benign	Het
Dnah10	G	A	5: 124,850,630 (GRCm39)	G1644D	probably damaging	Het
Dnah5	A	G	15: 28,384,390 (GRCm39)	I3045V	probably benign	Het
Dock3	G	A	9: 106,779,028 (GRCm39)	T307I	probably benign	Het
Dock5	A	T	14: 68,007,715 (GRCm39)	I1498N	probably benign	Het
Emc1	A	T	4: 139,081,557 (GRCm39)	N62Y	probably damaging	Het
Enpp6	C	A	8: 47,521,950 (GRCm39)	H295N	probably benign	Het
Epha10	A	G	4: 124,779,541 (GRCm39)	Y129C	probably damaging	Het
Fbn2	A	T	18: 58,172,387 (GRCm39)	D2139E	probably benign	Het
Fbxl12	A	T	9: 20,550,304 (GRCm39)	V140E	probably damaging	Het
Fignl1	A	T	11: 11,751,571 (GRCm39)	F495I	probably damaging	Het
Gm43302	C	T	5: 105,365,347 (GRCm39)	A554T	probably benign	Het
Gpr157	A	G	4: 150,183,309 (GRCm39)	N160D	probably benign	Het
Il1rn	G	A	2: 24,238,641 (GRCm39)		probably null	Het
Kctd13	T	A	7: 126,528,378 (GRCm39)	L51Q	probably damaging	Het
Kndc1	T	C	7: 139,516,722 (GRCm39)	F1561L	probably damaging	Het
Mast2	A	G	4: 116,190,608 (GRCm39)		probably null	Het
Mib1	A	G	18: 10,792,975 (GRCm39)	H637R	probably damaging	Het
Moxd1	A	T	10: 24,120,151 (GRCm39)	N93I	possibly damaging	Het
Mycbp2	T	C	14: 103,423,119 (GRCm39)		probably null	Het
Myot	T	C	18: 44,487,216 (GRCm39)	F351S	probably benign	Het
N4bp2	T	A	5: 65,947,800 (GRCm39)	N143K	possibly damaging	Het
Or10ac1	T	C	6: 42,515,950 (GRCm39)	D2G	probably benign	Het
Or2ah1	T	A	2: 85,653,531 (GRCm39)	I72N	probably damaging	Het
Or52a20	T	A	7: 103,366,319 (GRCm39)	W173R	probably benign	Het
Or52n2	C	T	7: 104,542,371 (GRCm39)	V155I	probably benign	Het
Or8b3	A	T	9: 38,314,862 (GRCm39)	I228F	probably damaging	Het
Or8b52	T	A	9: 38,576,502 (GRCm39)	I213L	probably benign	Het
Patl1	C	T	19: 11,898,223 (GRCm39)	R134*	probably null	Het
Paxbp1	T	C	16: 90,812,050 (GRCm39)	I887V	probably benign	Het
Pi4kb	G	A	3: 94,901,560 (GRCm39)	R436Q	probably benign	Het
Pla2g3	A	G	11: 3,438,686 (GRCm39)	E112G	probably benign	Het
Ppp2r2a	A	G	14: 67,276,322 (GRCm39)		probably null	Het
Rela	T	A	19: 5,695,408 (GRCm39)	S311R	possibly damaging	Het
Sidt1	T	A	16: 44,101,985 (GRCm39)		probably benign	Het
Smco2	T	C	6: 146,772,785 (GRCm39)	L329P	probably damaging	Het
Speer4f1	A	T	5: 17,682,347 (GRCm39)	I77F	possibly damaging	Het
Tex14	A	G	11: 87,402,298 (GRCm39)	I462V	probably benign	Het
Tmem260	C	T	14: 48,724,306 (GRCm39)	R385W	probably damaging	Het
Trrap	T	C	5: 144,781,034 (GRCm39)	V2974A	probably damaging	Het
Usp47	C	T	7: 111,652,476 (GRCm39)	T31I	probably damaging	Het
Zc2hc1a	A	G	3: 7,616,481 (GRCm39)	N247S	probably benign	Het
Zeb2	A	C	2: 44,887,107 (GRCm39)	M582R	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
R2338:Or51b6b	UTSW	7	103,309,617 (GRCm39)	missense	possibly damaging	0.90
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
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'- AGGAAGCAGATGTAGCTCATTG -3'
(R):5'- GGCCTATGACCGTTTCATTGC -3'

Sequencing Primer
(F):5'- GAGGAATATTCTTTCCAAACCTGTG -3'
(R):5'- ATGACCGTTTCATTGCCATTCG -3'

Posted On

2016-07-22