Mutagenetix > Incidental Mutation

Incidental Mutation 'R1875:Or6b6'

211142

Institutional Source

Beutler Lab

Gene Symbol

Or6b6

Ensembl Gene

ENSMUSG00000045013

Gene Name

olfactory receptor family 6 subfamily B member 6

Synonyms

MOR103-4, Olfr711, GA_x6K02T2PBJ9-9352783-9351839

MMRRC Submission

039897-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106570575-106574658 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106571389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 54 (S54F)

Ref Sequence

ENSEMBL: ENSMUSP00000149016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051715] [ENSMUST00000207200] [ENSMUST00000216335]

AlphaFold

Q9EPG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051715
AA Change: S54F

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055724
Gene: ENSMUSG00000045013
AA Change: S54F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.5e-58	PFAM
Pfam:7tm_1	41	290	1.2e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207200
AA Change: S54F

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216335
AA Change: S54F

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.3754

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.1%

Validation Efficiency

98% (85/87)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,847,190 (GRCm39)	M685L	possibly damaging	Het
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Adam26a	C	A	8: 44,022,888 (GRCm39)	V201L	probably benign	Het
Adamts20	G	T	15: 94,229,277 (GRCm39)	D947E	probably benign	Het
Ankrd26	A	G	6: 118,517,410 (GRCm39)		probably null	Het
Apol11a	C	A	15: 77,397,766 (GRCm39)	T39N	possibly damaging	Het
Arhgef38	T	A	3: 132,839,501 (GRCm39)		probably null	Het
Armh4	T	C	14: 49,919,815 (GRCm39)	D772G	probably damaging	Het
Atp11b	T	C	3: 35,893,296 (GRCm39)	L883P	probably damaging	Het
Btnl10	T	A	11: 58,814,586 (GRCm39)	I422N	probably damaging	Het
C2cd3	A	G	7: 100,056,232 (GRCm39)	K547E	possibly damaging	Het
Cdh2	T	A	18: 16,757,934 (GRCm39)	L549F	probably benign	Het
Celsr3	T	C	9: 108,713,037 (GRCm39)	V1825A	probably benign	Het
Cfap221	T	C	1: 119,881,389 (GRCm39)	I358V	probably benign	Het
Cimap2	G	A	4: 106,470,453 (GRCm39)		probably benign	Het
Csmd1	T	C	8: 15,979,101 (GRCm39)	K2828E	probably damaging	Het
Ddah2	T	C	17: 35,279,821 (GRCm39)	F137S	probably damaging	Het
Ddx21	A	G	10: 62,429,847 (GRCm39)	I299T	probably damaging	Het
Dnah7a	A	T	1: 53,495,691 (GRCm39)		probably benign	Het
Elmod1	A	G	9: 53,843,151 (GRCm39)	I9T	probably benign	Het
Epha2	A	G	4: 141,036,290 (GRCm39)	E242G	probably benign	Het
Erbb3	T	C	10: 128,410,335 (GRCm39)	H641R	possibly damaging	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Fli1	T	C	9: 32,335,209 (GRCm39)	M408V	probably benign	Het
Fmo4	T	C	1: 162,631,187 (GRCm39)	N260S	possibly damaging	Het
Fry	A	G	5: 150,249,597 (GRCm39)	E136G	probably damaging	Het
Gm10477	T	A	X: 55,570,127 (GRCm39)	F9Y	probably damaging	Het
Gm8258	A	G	5: 104,924,320 (GRCm39)		noncoding transcript	Het
Gpr68	T	A	12: 100,845,049 (GRCm39)	D165V	probably damaging	Het
Htt	T	A	5: 34,951,456 (GRCm39)	M139K	probably benign	Het
Jup	A	G	11: 100,263,120 (GRCm39)		probably null	Het
Kifc5b	G	A	17: 27,136,264 (GRCm39)		probably null	Het
Krba1	T	A	6: 48,390,983 (GRCm39)		probably null	Het
Lamp1	G	A	8: 13,217,257 (GRCm39)	G89R	probably damaging	Het
Lrrc17	C	T	5: 21,765,650 (GRCm39)	S44F	possibly damaging	Het
Mdga1	T	C	17: 30,071,581 (GRCm39)	T347A	probably damaging	Het
Mical3	A	T	6: 121,019,025 (GRCm39)	W66R	probably damaging	Het
Mpl	A	G	4: 118,314,026 (GRCm39)	Y73H	probably benign	Het
Mterf1b	T	A	5: 4,247,364 (GRCm39)	I335N	possibly damaging	Het
Mylk3	A	G	8: 86,079,494 (GRCm39)	I388T	probably damaging	Het
Myo15a	C	T	11: 60,398,354 (GRCm39)	R2775W	probably damaging	Het
Myoz2	A	T	3: 122,819,765 (GRCm39)	S65T	probably damaging	Het
Ndrg1	T	C	15: 66,802,940 (GRCm39)	T137A	possibly damaging	Het
Neil3	G	T	8: 54,052,454 (GRCm39)	N381K	probably damaging	Het
Obsl1	T	C	1: 75,474,877 (GRCm39)	Y841C	probably damaging	Het
Or2b4	A	G	17: 38,115,996 (GRCm39)		probably benign	Het
Otogl	T	C	10: 107,735,451 (GRCm39)	D111G	probably damaging	Het
Parp10	T	C	15: 76,127,051 (GRCm39)	E103G	probably damaging	Het
Pars2	T	C	4: 106,510,913 (GRCm39)	F232L	possibly damaging	Het
Pcdh18	A	T	3: 49,709,154 (GRCm39)	F720L	probably damaging	Het
Phf3	T	C	1: 30,869,704 (GRCm39)	E448G	possibly damaging	Het
Pigc	A	G	1: 161,798,516 (GRCm39)	Y166C	probably damaging	Het
Pik3c2a	A	T	7: 116,017,206 (GRCm39)	S184T	probably benign	Het
Pkd1l1	A	G	11: 8,794,670 (GRCm39)		probably benign	Het
Plch2	G	A	4: 155,082,965 (GRCm39)	S485F	probably damaging	Het
Plxnd1	G	T	6: 115,955,045 (GRCm39)		probably null	Het
Pnliprp2	G	T	19: 58,751,821 (GRCm39)	V189L	probably benign	Het
Prl8a2	T	C	13: 27,535,037 (GRCm39)	V103A	probably benign	Het
Psg23	G	A	7: 18,344,375 (GRCm39)	T360I	probably benign	Het
Rad51c	A	T	11: 87,279,469 (GRCm39)	I323N	probably damaging	Het
Rsbn1l	C	T	5: 21,156,696 (GRCm39)	E30K	probably benign	Het
Serpina3c	C	A	12: 104,118,145 (GRCm39)	L64F	probably damaging	Het
Shroom1	A	G	11: 53,356,502 (GRCm39)	D392G	probably damaging	Het
Slc26a5	T	A	5: 22,020,725 (GRCm39)	I540L	probably benign	Het
Slc37a4	A	G	9: 44,312,808 (GRCm39)	T321A	probably damaging	Het
Slc41a2	A	G	10: 83,091,949 (GRCm39)	L438S	probably damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Spef2	C	T	15: 9,597,487 (GRCm39)	G1390R	possibly damaging	Het
Spmap2l	A	T	5: 77,202,431 (GRCm39)	K284M	probably benign	Het
Synj2	G	T	17: 6,078,825 (GRCm39)	A740S	possibly damaging	Het
Tigd4	A	C	3: 84,502,394 (GRCm39)	D437A	probably benign	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tmem106a	CAGCTCAACACGACGGTA	CAGCTCAACACGACGGTAAGCTCAACACGACGGTA	11: 101,477,204 (GRCm39)		probably benign	Het
Tmem131l	A	T	3: 83,812,383 (GRCm39)	C1313*	probably null	Het
Tmem86b	A	T	7: 4,632,698 (GRCm39)	I47N	possibly damaging	Het
Tspan13	T	C	12: 36,070,550 (GRCm39)		probably null	Het
Vps54	A	G	11: 21,250,251 (GRCm39)	T396A	probably benign	Het
Zfp106	A	T	2: 120,344,096 (GRCm39)		probably null	Het
Zfp668	T	C	7: 127,465,654 (GRCm39)		probably null	Het
Zfp809	A	T	9: 22,150,027 (GRCm39)	R175*	probably null	Het

Other mutations in Or6b6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02600:Or6b6	APN	7	106,570,756 (GRCm39)	missense	possibly damaging	0.51
R0087:Or6b6	UTSW	7	106,571,323 (GRCm39)	missense	probably benign	0.01
R0580:Or6b6	UTSW	7	106,571,447 (GRCm39)	missense	probably damaging	1.00
R1375:Or6b6	UTSW	7	106,571,305 (GRCm39)	missense	probably damaging	1.00
R1538:Or6b6	UTSW	7	106,571,190 (GRCm39)	nonsense	probably null
R2156:Or6b6	UTSW	7	106,570,775 (GRCm39)	missense	probably damaging	1.00
R4290:Or6b6	UTSW	7	106,570,918 (GRCm39)	missense	probably damaging	0.97
R4332:Or6b6	UTSW	7	106,571,354 (GRCm39)	missense	probably benign	0.00
R4400:Or6b6	UTSW	7	106,571,209 (GRCm39)	missense	probably damaging	1.00
R4688:Or6b6	UTSW	7	106,571,068 (GRCm39)	missense	probably benign	0.02
R4868:Or6b6	UTSW	7	106,570,974 (GRCm39)	missense	probably benign
R4970:Or6b6	UTSW	7	106,570,778 (GRCm39)	missense	probably benign	0.35
R5006:Or6b6	UTSW	7	106,570,808 (GRCm39)	missense	probably damaging	1.00
R5082:Or6b6	UTSW	7	106,570,871 (GRCm39)	missense	probably benign	0.00
R5121:Or6b6	UTSW	7	106,571,438 (GRCm39)	missense	probably benign
R6465:Or6b6	UTSW	7	106,571,419 (GRCm39)	missense	possibly damaging	0.63
R6541:Or6b6	UTSW	7	106,571,410 (GRCm39)	missense	probably benign	0.20
R7419:Or6b6	UTSW	7	106,571,353 (GRCm39)	missense	probably benign	0.01
R8048:Or6b6	UTSW	7	106,571,671 (GRCm39)	start gained	probably benign
R9310:Or6b6	UTSW	7	106,570,678 (GRCm39)	missense	probably damaging	1.00
R9470:Or6b6	UTSW	7	106,571,461 (GRCm39)	missense	probably benign	0.26
R9603:Or6b6	UTSW	7	106,571,103 (GRCm39)	nonsense	probably null
Z1177:Or6b6	UTSW	7	106,571,122 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTCTGTGCAGGCAAGTGAG -3'
(R):5'- TGCCATAGACATTGCCCTTATTTG -3'

Sequencing Primer
(F):5'- CTCTGTGCAGGCAAGTGAGATAAAG -3'
(R):5'- GGTGCCACAGAAGATTACAATATCTC -3'

Posted On

2014-06-30