Mutagenetix > Incidental Mutation

Incidental Mutation 'R1718:Or8b9'

191211

Institutional Source

Beutler Lab

Gene Symbol

Or8b9

Ensembl Gene

ENSMUSG00000066749

Gene Name

olfactory receptor family 8 subfamily B member 9

Synonyms

Olfr877, MOR161-5, GA_x6K02T2PVTD-31540342-31541277

MMRRC Submission

039751-MU

Accession Numbers

Essential gene?

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

Stock #

R1718 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37766116-37767051 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37766749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 212 (V212I)

Ref Sequence

ENSEMBL: ENSMUSP00000150698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086063] [ENSMUST00000213956]

AlphaFold

Q8VF62

Predicted Effect

probably benign
Transcript: ENSMUST00000086063
AA Change: V212I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000083230
Gene: ENSMUSG00000066749
AA Change: V212I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.4e-49	PFAM
Pfam:7tm_1	41	291	6.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213956
AA Change: V212I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (69/69)

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
2210408I21Rik	G	T	13: 77,393,489 (GRCm39)		probably benign	Het
Acot3	T	G	12: 84,100,717 (GRCm39)		probably null	Het
Acox1	A	T	11: 116,065,508 (GRCm39)	C523*	probably null	Het
Adamts19	G	A	18: 59,105,897 (GRCm39)	C764Y	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Apob	A	G	12: 8,066,087 (GRCm39)	K4319R	probably benign	Het
AU016765	A	C	17: 64,862,433 (GRCm39)		noncoding transcript	Het
Bpifb1	T	A	2: 154,055,903 (GRCm39)		probably null	Het
Btn2a2	A	G	13: 23,666,106 (GRCm39)	V242A	probably benign	Het
Camta1	A	G	4: 151,168,481 (GRCm39)	S1281P	probably benign	Het
Ccdc116	T	C	16: 16,959,772 (GRCm39)	K306E	probably benign	Het
Cemip	A	G	7: 83,584,866 (GRCm39)	V1350A	probably benign	Het
Clip2	A	T	5: 134,531,783 (GRCm39)	L674*	probably null	Het
Cyp2d12	T	A	15: 82,442,251 (GRCm39)	D244E	probably benign	Het
Cyp4x1	A	G	4: 114,968,867 (GRCm39)	V379A	possibly damaging	Het
Dnah9	T	A	11: 66,058,905 (GRCm39)	H130L	possibly damaging	Het
Enpp7	A	G	11: 118,881,809 (GRCm39)	Y318C	probably damaging	Het
Fras1	A	T	5: 96,702,748 (GRCm39)		probably null	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm28042	T	A	2: 119,866,872 (GRCm39)	S172T	possibly damaging	Het
Gm7808	T	A	9: 19,839,299 (GRCm39)		probably benign	Het
Gpr61	C	T	3: 108,057,696 (GRCm39)	V322M	possibly damaging	Het
H2-T5	A	G	17: 36,472,676 (GRCm39)		probably benign	Het
Hapln3	A	G	7: 78,773,198 (GRCm39)	V15A	unknown	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klk1b4	A	G	7: 43,859,096 (GRCm39)	Y38C	probably damaging	Het
Lrrfip1	A	G	1: 91,043,277 (GRCm39)	K561E	probably damaging	Het
Map3k1	A	G	13: 111,891,953 (GRCm39)	C1101R	probably benign	Het
Mcoln2	A	G	3: 145,896,229 (GRCm39)		probably benign	Het
Mfsd2b	G	A	12: 4,919,037 (GRCm39)	T73I	probably damaging	Het
Mfsd4b5	C	T	10: 39,851,199 (GRCm39)	V19I	probably benign	Het
Mgme1	T	A	2: 144,114,238 (GRCm39)	D113E	probably benign	Het
Mki67	A	G	7: 135,297,223 (GRCm39)	S2604P	probably damaging	Het
Mob3c	A	G	4: 115,688,841 (GRCm39)	I125V	probably benign	Het
Mrps9	G	A	1: 42,942,559 (GRCm39)	R339H	probably damaging	Het
Ndst1	T	C	18: 60,840,875 (GRCm39)	D269G	probably damaging	Het
Nedd9	T	C	13: 41,492,402 (GRCm39)	N30S	probably damaging	Het
Notch4	G	A	17: 34,795,737 (GRCm39)		probably benign	Het
Or5ak25	T	C	2: 85,269,149 (GRCm39)	M118V	probably benign	Het
Or5t15	A	T	2: 86,681,531 (GRCm39)	N170K	probably benign	Het
Or8c10	A	G	9: 38,278,890 (GRCm39)	D6G	probably benign	Het
Papss1	C	A	3: 131,324,946 (GRCm39)	R447S	probably damaging	Het
Pla2g4a	C	T	1: 149,747,274 (GRCm39)		probably benign	Het
Rab11fip2	A	G	19: 59,924,081 (GRCm39)	F266L	probably damaging	Het
Ralgapb	T	A	2: 158,285,200 (GRCm39)	Y554*	probably null	Het
Rem2	T	C	14: 54,716,607 (GRCm39)	V240A	probably damaging	Het
Retsat	T	C	6: 72,579,654 (GRCm39)	V143A	probably benign	Het
Rnf141	G	T	7: 110,420,480 (GRCm39)	Q175K	probably damaging	Het
Rtcb	C	A	10: 85,777,881 (GRCm39)	G431V	probably damaging	Het
Slc7a6os	A	G	8: 106,930,971 (GRCm39)	W222R	probably damaging	Het
Smarcc2	T	C	10: 128,304,867 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,755,828 (GRCm39)	Y218N	possibly damaging	Het
Sp110	G	A	1: 85,522,106 (GRCm39)	H66Y	probably benign	Het
Speg	G	A	1: 75,394,507 (GRCm39)	E1739K	probably benign	Het
Speg	A	G	1: 75,398,388 (GRCm39)	Q1945R	possibly damaging	Het
Sprtn	T	C	8: 125,625,096 (GRCm39)	V67A	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tnks1bp1	G	T	2: 84,902,082 (GRCm39)	E997D	probably benign	Het
Tti1	A	T	2: 157,850,144 (GRCm39)	V365E	probably benign	Het
Tulp4	A	G	17: 6,272,715 (GRCm39)	I590V	probably benign	Het
Vmn2r61	A	G	7: 41,950,121 (GRCm39)	D847G	probably benign	Het
Zfp184	A	G	13: 22,143,442 (GRCm39)	T383A	possibly damaging	Het
Zik1	T	A	7: 10,226,268 (GRCm39)	E33V	probably damaging	Het
Zik1	C	A	7: 10,226,269 (GRCm39)	E33*	probably null	Het

Other mutations in Or8b9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01862:Or8b9	APN	9	37,766,477 (GRCm39)	missense	probably damaging	1.00
IGL02108:Or8b9	APN	9	37,766,234 (GRCm39)	missense	possibly damaging	0.88
IGL02474:Or8b9	APN	9	37,766,656 (GRCm39)	missense	probably benign	0.08
R0006:Or8b9	UTSW	9	37,766,516 (GRCm39)	missense	possibly damaging	0.95
R0893:Or8b9	UTSW	9	37,766,492 (GRCm39)	missense	probably damaging	1.00
R1051:Or8b9	UTSW	9	37,766,657 (GRCm39)	missense	probably damaging	0.99
R1432:Or8b9	UTSW	9	37,766,548 (GRCm39)	missense	possibly damaging	0.79
R1864:Or8b9	UTSW	9	37,766,560 (GRCm39)	missense	probably damaging	1.00
R4120:Or8b9	UTSW	9	37,766,705 (GRCm39)	missense	possibly damaging	0.66
R4507:Or8b9	UTSW	9	37,766,201 (GRCm39)	missense	possibly damaging	0.90
R4900:Or8b9	UTSW	9	37,766,608 (GRCm39)	missense	probably benign
R5406:Or8b9	UTSW	9	37,766,515 (GRCm39)	missense	probably benign	0.02
R6813:Or8b9	UTSW	9	37,766,810 (GRCm39)	missense	possibly damaging	0.83
R7061:Or8b9	UTSW	9	37,766,942 (GRCm39)	missense	possibly damaging	0.88
R7315:Or8b9	UTSW	9	37,766,543 (GRCm39)	missense	probably benign
R7500:Or8b9	UTSW	9	37,766,314 (GRCm39)	missense	probably damaging	1.00
R8021:Or8b9	UTSW	9	37,766,592 (GRCm39)	missense	probably damaging	1.00
R8188:Or8b9	UTSW	9	37,766,407 (GRCm39)	missense	probably benign	0.01
R9093:Or8b9	UTSW	9	37,766,294 (GRCm39)	missense	probably damaging	1.00
R9331:Or8b9	UTSW	9	37,766,710 (GRCm39)	missense	probably benign	0.03
R9373:Or8b9	UTSW	9	37,766,750 (GRCm39)	missense	probably damaging	0.97
R9696:Or8b9	UTSW	9	37,766,671 (GRCm39)	missense	probably benign	0.35
Z1088:Or8b9	UTSW	9	37,766,614 (GRCm39)	missense	probably benign	0.31
Z1177:Or8b9	UTSW	9	37,766,794 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- ACCGCTATGTTGCCATCTGTAAACC -3'
(R):5'- ACTTTTCCCTGATCCAGAGGCAAAC -3'

Sequencing Primer
(F):5'- GCCATCTGTAAACCACTGTTG -3'
(R):5'- CCTGATCCAGAGGCAAACTAGAAG -3'

Posted On

2014-05-14