Mutagenetix > Incidental Mutation

Incidental Mutation 'R8796:Or51b6'

671262

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

068637-MU

Accession Numbers

Essential gene?

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

Stock #

R8796 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103555549-103556654 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103556201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 182 (V182A)

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: V182A

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

possibly damaging
Transcript: ENSMUST00000209528
AA Change: V185A

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

Coding Region Coverage

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

Validation Efficiency

96% (51/53)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,629,482 (GRCm39)	T182S	possibly damaging	Het
Abca12	A	C	1: 71,297,248 (GRCm39)		probably benign	Het
Aco1	T	A	4: 40,179,037 (GRCm39)	D345E	probably benign	Het
Acp6	T	C	3: 97,066,509 (GRCm39)	V9A	probably benign	Het
Akap1	A	C	11: 88,730,498 (GRCm39)	I597S	probably damaging	Het
B4galnt4	C	T	7: 140,647,488 (GRCm39)	T385I	probably damaging	Het
Bbof1	A	T	12: 84,460,068 (GRCm39)	T112S	possibly damaging	Het
Chd7	C	A	4: 8,838,691 (GRCm39)	H1297N	probably damaging	Het
Cldn15	T	C	5: 137,003,351 (GRCm39)	F147L	probably damaging	Het
Coq7	C	T	7: 118,126,640 (GRCm39)	E143K	probably damaging	Het
Ctnnb1	A	G	9: 120,784,498 (GRCm39)	N430S	probably damaging	Het
Cxcl12	G	T	6: 117,155,553 (GRCm39)	K92N	possibly damaging	Het
Dscaml1	T	C	9: 45,359,026 (GRCm39)	F95S	probably damaging	Het
Epha5	T	A	5: 84,255,850 (GRCm39)	H480L	probably damaging	Het
Fbxo30	G	A	10: 11,165,320 (GRCm39)	C14Y	probably damaging	Het
Gja5	A	G	3: 96,958,419 (GRCm39)	I159V	possibly damaging	Het
Herc2	A	T	7: 55,785,123 (GRCm39)	Q1487L	probably benign	Het
Hipk2	T	A	6: 38,675,158 (GRCm39)	Q1168L	probably damaging	Het
Kcnk12	T	A	17: 88,054,020 (GRCm39)	Y214F	probably damaging	Het
Kif5b	T	C	18: 6,226,965 (GRCm39)	K98E	probably benign	Het
Lama1	T	A	17: 68,117,146 (GRCm39)	N2480K		Het
Lrp1b	A	G	2: 40,793,426 (GRCm39)	C2610R		Het
Mast4	T	C	13: 102,919,899 (GRCm39)	Y536C	probably benign	Het
Ntrk1	A	G	3: 87,690,422 (GRCm39)	S407P	probably benign	Het
Ogdh	T	A	11: 6,297,129 (GRCm39)	M527K	possibly damaging	Het
Or5m9b	G	A	2: 85,905,518 (GRCm39)	V145M	possibly damaging	Het
Plxdc1	A	G	11: 97,847,407 (GRCm39)	S89P	probably benign	Het
Prdm2	A	G	4: 142,860,017 (GRCm39)	I1091T	probably benign	Het
Psg16	C	A	7: 16,827,814 (GRCm39)	H166N	possibly damaging	Het
Qrfpr	T	A	3: 36,234,345 (GRCm39)	Y332F	probably damaging	Het
Rab31	A	T	17: 66,079,529 (GRCm39)	I4K	possibly damaging	Het
Ranbp10	C	A	8: 106,499,665 (GRCm39)		probably benign	Het
Rasgrf2	T	C	13: 92,038,685 (GRCm39)	S453G		Het
Rxfp2	C	T	5: 149,942,262 (GRCm39)		probably benign	Het
S100a8	A	G	3: 90,576,865 (GRCm39)	E6G	probably damaging	Het
Sart1	T	C	19: 5,438,376 (GRCm39)	K94E	probably damaging	Het
Sema4d	A	T	13: 51,865,546 (GRCm39)	F297I	probably damaging	Het
Sgk2	A	G	2: 162,848,723 (GRCm39)	K287E	probably damaging	Het
Sgsm1	T	A	5: 113,411,123 (GRCm39)	T868S	probably benign	Het
Skint6	G	T	4: 112,661,891 (GRCm39)	T1231K	possibly damaging	Het
Slc35b3	C	T	13: 39,121,722 (GRCm39)		probably benign	Het
Slf1	A	T	13: 77,214,784 (GRCm39)	M634K	probably benign	Het
Slit2	A	G	5: 48,460,190 (GRCm39)	D1424G	probably benign	Het
Snx21	G	A	2: 164,628,749 (GRCm39)	V131I	possibly damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Tas1r3	A	G	4: 155,945,848 (GRCm39)	V516A	probably benign	Het
Tas2r120	A	T	6: 132,634,081 (GRCm39)	R54S	probably damaging	Het
Tmem109	A	T	19: 10,849,995 (GRCm39)	L99Q	probably damaging	Het
Tnfrsf1b	A	G	4: 144,946,485 (GRCm39)	S309P	possibly damaging	Het
Trav11	C	T	14: 53,757,227 (GRCm39)	A85V	probably benign	Het
Trp53	G	A	11: 69,480,434 (GRCm39)	R267H	possibly damaging	Het
Ttn	G	A	2: 76,653,314 (GRCm39)	R12631C	possibly damaging	Het
Vmn2r10	T	A	5: 109,143,917 (GRCm39)	T678S	possibly damaging	Het
Vmn2r124	T	C	17: 18,282,933 (GRCm39)	M209T	possibly damaging	Het
Vmn2r24	A	T	6: 123,757,500 (GRCm39)	M123L	probably benign	Het
Wdr41	T	G	13: 95,151,575 (GRCm39)	L245R	possibly damaging	Het
Wwp2	G	T	8: 108,283,189 (GRCm39)	G814W	probably null	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
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
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'- TGCTTGCCATGGCCTATGAC -3'
(R):5'- CCAAGATGCAACAGATGTGG -3'

Sequencing Primer
(F):5'- ATGGCCTATGACCGTTTCATTG -3'
(R):5'- GGAGACACATGTGTTGAGAGCC -3'

Posted On

2021-04-30