Mutagenetix > Incidental Mutation

Incidental Mutation 'R6270:Or51b6b'

507272

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

044441-MU

Accession Numbers

Essential gene?

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

Stock #

R6270 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103309451-103310525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103309620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 279 (Y279C)

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: Y279C

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000070658
Gene: ENSMUSG00000099687
AA Change: Y279C

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: Y279C

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.2160

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (51/52)

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
Acsl6	A	G	11: 54,242,933 (GRCm39)	E648G	probably benign	Het
Ak7	A	G	12: 105,734,960 (GRCm39)	H642R	probably benign	Het
Akap11	T	C	14: 78,756,239 (GRCm39)	E53G	probably damaging	Het
Ark2n	T	C	18: 77,762,117 (GRCm39)	D65G	probably damaging	Het
Ddr2	T	G	1: 169,816,109 (GRCm39)	T533P	probably benign	Het
Dhx40	A	G	11: 86,690,431 (GRCm39)	S197P	possibly damaging	Het
Dolpp1	C	A	2: 30,282,281 (GRCm39)		probably benign	Het
Eng	A	G	2: 32,563,655 (GRCm39)	D347G	probably benign	Het
Esrra	C	T	19: 6,891,488 (GRCm39)		probably null	Het
Fap	T	C	2: 62,378,132 (GRCm39)	I159V	probably damaging	Het
Fn1	C	T	1: 71,676,434 (GRCm39)	C599Y	probably damaging	Het
Fnbp4	T	C	2: 90,587,807 (GRCm39)	V395A	probably damaging	Het
Foxn3	T	C	12: 99,354,676 (GRCm39)	R163G	probably damaging	Het
Gphn	T	G	12: 78,569,724 (GRCm39)	L306R	probably benign	Het
Gse1	T	C	8: 121,295,902 (GRCm39)		probably benign	Het
Habp2	A	G	19: 56,295,295 (GRCm39)	D62G	possibly damaging	Het
Hdac7	AGGG	AGGGG	15: 97,706,376 (GRCm39)		probably null	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Kit	A	G	5: 75,770,169 (GRCm39)	T194A	probably benign	Het
Krt16	C	A	11: 100,138,029 (GRCm39)	A316S	possibly damaging	Het
Krt7	A	G	15: 101,317,439 (GRCm39)	D244G	probably damaging	Het
Lhfpl3	T	A	5: 23,478,349 (GRCm39)	Y77*	probably null	Het
Lrrc18	A	T	14: 32,731,078 (GRCm39)	M206L	probably benign	Het
Magel2	C	A	7: 62,030,406 (GRCm39)	C1103*	probably null	Het
Mcf2l	T	C	8: 13,068,701 (GRCm39)	V1058A	probably damaging	Het
Nbas	G	A	12: 13,374,294 (GRCm39)	A541T	probably damaging	Het
Nrap	C	T	19: 56,308,630 (GRCm39)	M1485I	probably benign	Het
Nudt18	T	C	14: 70,816,830 (GRCm39)	Y145H	probably benign	Het
Or51f1d	T	C	7: 102,700,538 (GRCm39)	L11P	probably benign	Het
Or5k8	A	T	16: 58,644,782 (GRCm39)	C97S	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb12	A	T	18: 37,569,838 (GRCm39)	Q328L	possibly damaging	Het
Pde6c	T	C	19: 38,146,884 (GRCm39)	W431R	probably damaging	Het
Pga5	T	C	19: 10,652,225 (GRCm39)	E139G	probably benign	Het
Pkdrej	G	T	15: 85,705,306 (GRCm39)	S210*	probably null	Het
Pnpla1	G	A	17: 29,100,342 (GRCm39)	G403E	probably benign	Het
Sema3d	A	T	5: 12,498,074 (GRCm39)	M27L	probably benign	Het
Serinc5	T	C	13: 92,825,170 (GRCm39)	S200P	probably damaging	Het
Sf3b3	T	C	8: 111,568,452 (GRCm39)	D174G	probably damaging	Het
Sult1b1	A	T	5: 87,665,413 (GRCm39)		probably null	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tcaf3	T	C	6: 42,570,725 (GRCm39)	I342M	probably benign	Het
Tenm3	G	A	8: 48,820,429 (GRCm39)	T136M	probably damaging	Het
Tet3	T	C	6: 83,352,773 (GRCm39)	T1008A	possibly damaging	Het
Tgif1	T	C	17: 71,151,861 (GRCm39)		probably null	Het
Trav15-2-dv6-2	A	G	14: 53,887,323 (GRCm39)	D81G	probably benign	Het
Trpv5	T	A	6: 41,651,293 (GRCm39)	H251L	possibly damaging	Het
Ttc14	C	A	3: 33,854,537 (GRCm39)	T37K	possibly damaging	Het
Vmn2r80	A	T	10: 79,030,159 (GRCm39)	I662L	probably benign	Het
Vmn2r81	A	G	10: 79,129,649 (GRCm39)	I847V	probably benign	Het
Zfp474	A	G	18: 52,771,436 (GRCm39)	T30A	probably benign	Het
Zswim4	C	T	8: 84,957,580 (GRCm39)	V163M	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
R5322:Or51b6b	UTSW	7	103,309,879 (GRCm39)	missense	possibly damaging	0.62
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'- CTGCCTGAAATGTTGTCGAC -3'
(R):5'- TGCTGACATCACATTCAATCGTC -3'

Sequencing Primer
(F):5'- CCTGAAATGTTGTCGACTTGATC -3'
(R):5'- GACATCACATTCAATCGTCTCTATC -3'

Posted On

2018-03-15