Mutagenetix > Incidental Mutation

Incidental Mutation 'R5688:Or8b8'

443511

Institutional Source

Beutler Lab

Gene Symbol

Or8b8

Ensembl Gene

ENSMUSG00000066748

Gene Name

olfactory receptor family 8 subfamily B member 8

Synonyms

GA_x6K02T2PVTD-31578734-31579666, Olfr145, K21, MOR161-6

MMRRC Submission

043321-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R5688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37808020-37814815 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 37809359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 220 (I220L)

Ref Sequence

ENSEMBL: ENSMUSP00000150284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086062] [ENSMUST00000213688]

AlphaFold

Q60882

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086062
AA Change: I220L

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083229
Gene: ENSMUSG00000066748
AA Change: I220L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	4e-51	PFAM
Pfam:7tm_1	40	289	1.4e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213688
AA Change: I220L

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,315,920 (GRCm39)	A222V	probably benign	Het
Ahnak	A	G	19: 8,979,883 (GRCm39)	D389G	probably benign	Het
Aldh1l2	A	T	10: 83,337,789 (GRCm39)	S559T	possibly damaging	Het
Alms1	T	A	6: 85,576,877 (GRCm39)	N144K	possibly damaging	Het
Anp32b	T	A	4: 46,469,868 (GRCm39)		probably null	Het
Atf7	C	T	15: 102,459,944 (GRCm39)	R57H	probably damaging	Het
Atp10b	A	T	11: 43,092,000 (GRCm39)	H345L	probably benign	Het
Cacna2d1	A	T	5: 16,563,950 (GRCm39)	I859F	probably damaging	Het
Calcr	T	A	6: 3,714,730 (GRCm39)		probably null	Het
Cd248	A	G	19: 5,119,963 (GRCm39)	T604A	probably benign	Het
Cemip	C	T	7: 83,610,849 (GRCm39)	V702M	probably damaging	Het
Cep295	G	T	9: 15,243,282 (GRCm39)	Q469K	probably damaging	Het
Cntn5	A	G	9: 9,748,427 (GRCm39)	W485R	probably damaging	Het
Cpe	T	C	8: 65,062,189 (GRCm39)	N289S	possibly damaging	Het
Cyp2j11	G	A	4: 96,233,358 (GRCm39)	R113C	probably damaging	Het
Dcp1b	T	C	6: 119,194,872 (GRCm39)	S531P	probably benign	Het
Defb7	T	G	8: 19,545,167 (GRCm39)	L15R	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Ednrb	T	C	14: 104,060,831 (GRCm39)	D198G	probably damaging	Het
Engase	A	C	11: 118,378,146 (GRCm39)	E312A	possibly damaging	Het
Evl	G	A	12: 108,639,612 (GRCm39)		probably null	Het
Faf1	C	A	4: 109,652,010 (GRCm39)	Q234K	probably damaging	Het
Garre1	T	A	7: 33,953,416 (GRCm39)	T449S	possibly damaging	Het
Garre1	T	G	7: 33,984,134 (GRCm39)	D163A	probably damaging	Het
Gm5460	C	A	14: 33,767,752 (GRCm39)	N453K	possibly damaging	Het
Gm7356	T	A	17: 14,220,869 (GRCm39)	I387F	possibly damaging	Het
H1f2	A	G	13: 23,923,148 (GRCm39)	K106R	probably damaging	Het
Hagh	T	C	17: 25,069,568 (GRCm39)	M1T	probably null	Het
Hars1	A	T	18: 36,905,369 (GRCm39)	V155E	probably damaging	Het
Lca5	C	A	9: 83,280,619 (GRCm39)	D394Y	probably benign	Het
Lmtk3	T	C	7: 45,440,834 (GRCm39)	L280P	probably damaging	Het
Lrit1	C	T	14: 36,784,385 (GRCm39)	A571V	possibly damaging	Het
Map4k2	C	A	19: 6,396,836 (GRCm39)	P584H	probably damaging	Het
Mgst1	T	C	6: 138,118,798 (GRCm39)		probably benign	Het
Mtrex	A	T	13: 113,009,590 (GRCm39)	C936*	probably null	Het
Neb	C	T	2: 52,086,339 (GRCm39)	V5245I	probably damaging	Het
Oas3	T	C	5: 120,896,867 (GRCm39)	N918S	probably benign	Het
Or4c106	C	T	2: 88,683,023 (GRCm39)	T243I	probably benign	Het
Or5d16	T	A	2: 87,773,552 (GRCm39)	Q140L	probably benign	Het
Ovch2	A	G	7: 107,393,201 (GRCm39)	L224P	probably damaging	Het
Patj	A	T	4: 98,409,047 (GRCm39)	K34*	probably null	Het
Pcf11	T	A	7: 92,308,016 (GRCm39)	R717S	possibly damaging	Het
Plcb1	A	T	2: 135,177,400 (GRCm39)	E577D	probably benign	Het
Plxnb2	T	C	15: 89,042,899 (GRCm39)	K1497E	probably damaging	Het
Pyroxd1	C	A	6: 142,299,266 (GRCm39)	L141I	probably damaging	Het
Rhobtb3	G	T	13: 76,020,537 (GRCm39)	N588K	probably benign	Het
Rnasel	G	A	1: 153,629,452 (GRCm39)		probably benign	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shank1	A	T	7: 44,003,911 (GRCm39)	I1868F	possibly damaging	Het
Slc28a3	A	T	13: 58,706,463 (GRCm39)	S593T	probably damaging	Het
Slc29a4	T	C	5: 142,699,853 (GRCm39)	I168T	possibly damaging	Het
Slc35f5	C	T	1: 125,518,775 (GRCm39)	P502L	probably benign	Het
Slco6d1	T	C	1: 98,408,493 (GRCm39)	I463T	probably damaging	Het
Slk	A	G	19: 47,608,451 (GRCm39)	D468G	probably benign	Het
Spata31d1d	G	T	13: 59,874,322 (GRCm39)	P1071Q	probably damaging	Het
Tert	G	A	13: 73,787,275 (GRCm39)	V754I	probably damaging	Het
Thada	T	C	17: 84,759,155 (GRCm39)	T235A	probably benign	Het
Ttn	T	C	2: 76,564,472 (GRCm39)	D28555G	probably damaging	Het
Ttn	T	A	2: 76,710,328 (GRCm39)		probably null	Het
Ubqln4	T	C	3: 88,472,575 (GRCm39)	L464P	probably damaging	Het
Unc45b	A	T	11: 82,813,643 (GRCm39)	N350I	possibly damaging	Het
Vmn2r65	T	C	7: 84,589,900 (GRCm39)	D672G	probably benign	Het
Zfp947	T	A	17: 22,365,066 (GRCm39)	I203L	probably benign	Het
Zfp964	T	A	8: 70,116,766 (GRCm39)	H454Q	probably benign	Het

Other mutations in Or8b8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Or8b8	APN	9	37,809,359 (GRCm39)	missense	probably benign	0.13
IGL01586:Or8b8	APN	9	37,809,272 (GRCm39)	missense	possibly damaging	0.73
IGL02185:Or8b8	APN	9	37,809,531 (GRCm39)	missense	probably damaging	1.00
IGL02895:Or8b8	APN	9	37,809,278 (GRCm39)	missense	probably benign	0.01
IGL02956:Or8b8	APN	9	37,809,404 (GRCm39)	missense	probably damaging	1.00
R0391:Or8b8	UTSW	9	37,809,138 (GRCm39)	missense	probably benign	0.31
R0513:Or8b8	UTSW	9	37,809,351 (GRCm39)	missense	probably damaging	1.00
R4600:Or8b8	UTSW	9	37,809,622 (GRCm39)	missense	probably benign
R4610:Or8b8	UTSW	9	37,809,622 (GRCm39)	missense	probably benign
R4611:Or8b8	UTSW	9	37,809,622 (GRCm39)	missense	probably benign
R4982:Or8b8	UTSW	9	37,808,811 (GRCm39)	missense	probably damaging	1.00
R5574:Or8b8	UTSW	9	37,808,877 (GRCm39)	missense	probably damaging	1.00
R5608:Or8b8	UTSW	9	37,809,078 (GRCm39)	missense	probably damaging	0.98
R5906:Or8b8	UTSW	9	37,809,174 (GRCm39)	missense	probably damaging	1.00
R6286:Or8b8	UTSW	9	37,809,074 (GRCm39)	missense	probably damaging	0.99
R7138:Or8b8	UTSW	9	37,809,360 (GRCm39)	missense	probably damaging	0.99
R7145:Or8b8	UTSW	9	37,808,859 (GRCm39)	missense	probably benign	0.01
R7993:Or8b8	UTSW	9	37,808,633 (GRCm39)	intron	probably benign
R8046:Or8b8	UTSW	9	37,808,685 (GRCm39)	splice site	probably benign
R8185:Or8b8	UTSW	9	37,809,531 (GRCm39)	missense	probably damaging	1.00
R9276:Or8b8	UTSW	9	37,809,415 (GRCm39)	missense	probably benign	0.04
R9352:Or8b8	UTSW	9	37,808,712 (GRCm39)	missense	probably benign	0.00
X0012:Or8b8	UTSW	9	37,809,624 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTACACCGTGACCATGTCTCC -3'
(R):5'- AAGGACGACACTTTCCCCTG -3'

Sequencing Primer
(F):5'- AGCATTCATGGTGAAACTGACC -3'
(R):5'- TTCCCCTGGTTCATAGGCAAAAGG -3'

Posted On

2016-11-09