Mutagenetix > Incidental Mutation

Incidental Mutation 'R3964:Or8b1b'

312254

Institutional Source

Beutler Lab

Gene Symbol

Or8b1b

Ensembl Gene

ENSMUSG00000094380

Gene Name

olfactory receptor family 8 subfamily B member 1B

Synonyms

Olfr904, MOR167-3, GA_x6K02T2PVTD-32156773-32157705

MMRRC Submission

040933-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R3964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38375330-38378952 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38375979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 214 (I214T)

Ref Sequence

ENSEMBL: ENSMUSP00000150057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058153] [ENSMUST00000216724]

AlphaFold

Q7TRC9

Predicted Effect

probably benign
Transcript: ENSMUST00000058153
AA Change: I214T

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000057148
Gene: ENSMUSG00000094380
AA Change: I214T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	5.7e-51	PFAM
Pfam:7tm_1	41	291	1.5e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216724
AA Change: I214T

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	A	12: 81,607,583 (GRCm39)	A60S	possibly damaging	Het
Arpp21	C	G	9: 111,894,844 (GRCm39)	V805L	probably damaging	Het
C1galt1c1	A	T	X: 37,720,453 (GRCm39)	V181E	probably benign	Het
Cdh18	A	T	15: 23,474,187 (GRCm39)	T686S	probably benign	Het
Cemip	T	A	7: 83,600,717 (GRCm39)	Y968F	probably benign	Het
Cep70	T	A	9: 99,180,587 (GRCm39)	F581I	probably damaging	Het
Ctc1	T	A	11: 68,921,954 (GRCm39)	V800D	probably damaging	Het
Cttnbp2nl	T	C	3: 104,913,321 (GRCm39)	K188E	probably damaging	Het
Cux1	A	G	5: 136,311,796 (GRCm39)	V1180A	probably damaging	Het
Cux2	G	T	5: 122,025,539 (GRCm39)	S43*	probably null	Het
Dhx57	T	A	17: 80,572,541 (GRCm39)	K711*	probably null	Het
Ehbp1l1	C	T	19: 5,760,601 (GRCm39)		probably null	Het
Esyt3	T	A	9: 99,202,375 (GRCm39)	D512V	probably damaging	Het
Gadl1	T	C	9: 115,794,676 (GRCm39)	S284P	probably damaging	Het
Gm14137	T	A	2: 119,005,497 (GRCm39)	S19T	probably benign	Het
Gpr141b	A	G	13: 19,913,614 (GRCm39)		noncoding transcript	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Gsdmc2	A	G	15: 63,721,683 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,449,320 (GRCm39)	T110A	probably benign	Het
Il23r	G	A	6: 67,443,281 (GRCm39)	T274I	probably benign	Het
Inhbb	C	A	1: 119,345,291 (GRCm39)	G333W	probably damaging	Het
Kcnb1	C	T	2: 166,946,412 (GRCm39)	C812Y	probably damaging	Het
Lrp1b	A	G	2: 41,202,482 (GRCm39)		probably benign	Het
Med31	C	T	11: 72,102,755 (GRCm39)	A118T	probably benign	Het
Mov10l1	A	G	15: 88,896,366 (GRCm39)	I737V	probably benign	Het
Mrs2	A	G	13: 25,185,746 (GRCm39)	I142T	possibly damaging	Het
Ms4a6b	T	C	19: 11,499,098 (GRCm39)	S71P	probably benign	Het
Muc2	G	A	7: 141,286,233 (GRCm39)	R120H	probably benign	Het
Muc5b	A	T	7: 141,420,705 (GRCm39)	I4191F	possibly damaging	Het
Myrf	T	C	19: 10,196,979 (GRCm39)	E267G	probably benign	Het
Nfatc2	C	T	2: 168,346,469 (GRCm39)	S875N	probably benign	Het
Nmi	T	C	2: 51,846,081 (GRCm39)	E67G	possibly damaging	Het
Nrap	T	C	19: 56,330,576 (GRCm39)	S1126G	probably damaging	Het
Nucb2	A	G	7: 116,128,110 (GRCm39)	E273G	probably damaging	Het
Or10g9	A	T	9: 39,911,767 (GRCm39)	V252E	possibly damaging	Het
Or1j4	A	G	2: 36,740,729 (GRCm39)	T224A	probably benign	Het
Or8b51	G	A	9: 38,569,023 (GRCm39)	L222F	probably benign	Het
Pcdhga12	A	T	18: 37,900,254 (GRCm39)	Q362L	probably benign	Het
Peak1	C	T	9: 56,167,263 (GRCm39)	E222K	probably damaging	Het
Pik3r1	T	C	13: 101,825,193 (GRCm39)	E458G	possibly damaging	Het
Pls1	T	C	9: 95,667,665 (GRCm39)	Q81R	probably benign	Het
Plxdc2	T	A	2: 16,665,651 (GRCm39)	F284I	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pole	A	G	5: 110,460,648 (GRCm39)	K1143E	probably damaging	Het
Ppfia4	A	T	1: 134,250,754 (GRCm39)	D478E	probably benign	Het
Ptprd	A	G	4: 75,978,073 (GRCm39)		probably benign	Het
Ptprj	A	G	2: 90,298,785 (GRCm39)	I315T	probably benign	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	Het
Rnf13	G	A	3: 57,676,533 (GRCm39)	G63S	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Shld2	T	A	14: 33,981,644 (GRCm39)	Q498L	probably damaging	Het
Slc50a1	T	C	3: 89,176,093 (GRCm39)	I151V	probably benign	Het
Snx27	T	A	3: 94,438,613 (GRCm39)	R207S	probably damaging	Het
Sos1	C	T	17: 80,762,608 (GRCm39)	R73H	probably damaging	Het
Tbc1d9b	A	G	11: 50,059,523 (GRCm39)	E975G	possibly damaging	Het
Tbccd1	A	G	16: 22,660,523 (GRCm39)	S98P	probably damaging	Het
Timd5	T	A	11: 46,426,340 (GRCm39)	V149D	possibly damaging	Het
Tmx4	T	C	2: 134,441,981 (GRCm39)	I206V	possibly damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Usp19	T	A	9: 108,375,228 (GRCm39)	V818E	probably damaging	Het
Wdr38	A	G	2: 38,889,362 (GRCm39)	Y51C	probably damaging	Het
Zfp456	T	C	13: 67,514,900 (GRCm39)	T269A	probably benign	Het
Zfp628	T	C	7: 4,924,744 (GRCm39)	S989P	probably benign	Het

Other mutations in Or8b1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:Or8b1b	APN	9	38,376,030 (GRCm39)	missense	probably benign
IGL01966:Or8b1b	APN	9	38,376,225 (GRCm39)	missense	possibly damaging	0.82
IGL02328:Or8b1b	APN	9	38,375,972 (GRCm39)	missense	probably benign
IGL03394:Or8b1b	APN	9	38,375,517 (GRCm39)	missense	probably damaging	1.00
R0085:Or8b1b	UTSW	9	38,375,958 (GRCm39)	missense	probably benign	0.37
R0125:Or8b1b	UTSW	9	38,375,757 (GRCm39)	nonsense	probably null
R1506:Or8b1b	UTSW	9	38,375,439 (GRCm39)	missense	probably benign	0.02
R1545:Or8b1b	UTSW	9	38,375,815 (GRCm39)	missense	probably benign	0.37
R1610:Or8b1b	UTSW	9	38,375,927 (GRCm39)	missense	probably damaging	0.97
R2008:Or8b1b	UTSW	9	38,375,537 (GRCm39)	missense	probably damaging	1.00
R2424:Or8b1b	UTSW	9	38,376,128 (GRCm39)	missense	probably damaging	0.99
R3824:Or8b1b	UTSW	9	38,375,822 (GRCm39)	missense	probably benign	0.13
R4093:Or8b1b	UTSW	9	38,375,379 (GRCm39)	missense	probably null	1.00
R4454:Or8b1b	UTSW	9	38,375,938 (GRCm39)	missense	probably benign	0.03
R5650:Or8b1b	UTSW	9	38,376,023 (GRCm39)	nonsense	probably null
R6921:Or8b1b	UTSW	9	38,375,543 (GRCm39)	missense	probably benign	0.01
R7406:Or8b1b	UTSW	9	38,375,439 (GRCm39)	missense	possibly damaging	0.88
R7597:Or8b1b	UTSW	9	38,375,802 (GRCm39)	missense	probably benign	0.01
R7959:Or8b1b	UTSW	9	38,376,211 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATTTTCTGGTGCCATGGCTC -3'
(R):5'- AGATTAAGGGATTCATCATGGGAAC -3'

Sequencing Primer
(F):5'- TCACACGGGATGCATGCTG -3'
(R):5'- ACACAGAAGAGGTTTTCCCTTGATCC -3'

Posted On

2015-04-29