Mutagenetix > Incidental Mutation

Incidental Mutation 'R4120:Or8b9'

315279

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

040993-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R4120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37766116-37767051 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37766705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 197 (L197S)

Ref Sequence

ENSEMBL: ENSMUSP00000150698 (fasta)

Gene Model

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

AlphaFold

Q8VF62

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086063
AA Change: L197S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000083230
Gene: ENSMUSG00000066749
AA Change: L197S

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

possibly damaging
Transcript: ENSMUST00000213956
AA Change: L197S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

93% (55/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	C	A	1: 25,133,388 (GRCm39)	E1233*	probably null	Het
Afap1l1	T	C	18: 61,872,243 (GRCm39)	D526G	probably damaging	Het
Ago4	A	G	4: 126,390,600 (GRCm39)	Y807H	probably damaging	Het
Ankfy1	G	A	11: 72,605,310 (GRCm39)		probably null	Het
Arhgap40	A	G	2: 158,374,250 (GRCm39)	M222V	probably benign	Het
Asnsd1	A	G	1: 53,387,154 (GRCm39)	S158P	probably damaging	Het
Cdh15	T	C	8: 123,590,162 (GRCm39)	V365A	probably damaging	Het
Clca3a2	T	C	3: 144,516,613 (GRCm39)	M328V	probably benign	Het
Col4a1	G	A	8: 11,256,263 (GRCm39)	P1535S	unknown	Het
Dennd2a	G	A	6: 39,442,030 (GRCm39)	R947C	probably damaging	Het
Dlg2	G	A	7: 91,614,846 (GRCm39)	V217I	probably damaging	Het
Dnaaf2	T	C	12: 69,244,812 (GRCm39)	D83G	possibly damaging	Het
Dppa5a	A	T	9: 78,275,137 (GRCm39)	M55K	possibly damaging	Het
Ect2l	A	G	10: 18,006,466 (GRCm39)	V779A	probably benign	Het
Ehhadh	A	G	16: 21,581,934 (GRCm39)	S353P	probably benign	Het
Etv3	A	G	3: 87,443,589 (GRCm39)	D391G	probably benign	Het
Fastkd1	T	A	2: 69,537,654 (GRCm39)	K309N	probably damaging	Het
Fip1l1	T	A	5: 74,748,852 (GRCm39)	Y375N	probably damaging	Het
Flvcr2	T	C	12: 85,832,903 (GRCm39)	S308P	probably benign	Het
Fyco1	T	C	9: 123,654,691 (GRCm39)	Y1065C	probably benign	Het
Gfra2	A	G	14: 71,203,715 (GRCm39)	D31G	probably damaging	Het
Gm17175	A	T	14: 51,810,534 (GRCm39)	I31N	probably damaging	Het
Gm6003	T	A	7: 32,864,976 (GRCm39)		noncoding transcript	Het
Gm9951	T	C	8: 34,522,993 (GRCm39)		noncoding transcript	Het
Hspa2	A	G	12: 76,452,008 (GRCm39)	E234G	probably damaging	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Iqsec1	A	T	6: 90,639,584 (GRCm39)	Y1065*	probably null	Het
Ltk	T	A	2: 119,588,429 (GRCm39)		probably benign	Het
Map2	G	A	1: 66,455,063 (GRCm39)	A1318T	probably damaging	Het
Mas1	A	T	17: 13,061,233 (GRCm39)	N63K	probably damaging	Het
Myo15b	T	C	11: 115,764,318 (GRCm39)	S1311P	probably benign	Het
Nav3	A	G	10: 109,739,605 (GRCm39)		probably null	Het
Nlrp1c-ps	T	C	11: 71,133,359 (GRCm39)		noncoding transcript	Het
Oca2	A	T	7: 55,904,630 (GRCm39)	D32V	probably damaging	Het
Or51v8	T	C	7: 103,320,221 (GRCm39)	T6A	probably benign	Het
Otub2	T	C	12: 103,370,489 (GRCm39)	V257A	probably damaging	Het
Pink1	G	A	4: 138,042,822 (GRCm39)	R461*	probably null	Het
Plxna2	T	C	1: 194,462,935 (GRCm39)	C901R	probably damaging	Het
Ptchd3	T	A	11: 121,721,572 (GRCm39)	N148K	probably damaging	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Ripor1	T	A	8: 106,345,489 (GRCm39)		probably benign	Het
Sec13	T	C	6: 113,711,637 (GRCm39)	N107S	probably damaging	Het
Slc12a2	A	G	18: 58,032,427 (GRCm39)	M376V	possibly damaging	Het
Sp140l2	C	T	1: 85,237,542 (GRCm39)	V81M	possibly damaging	Het
Sptbn5	T	A	2: 119,895,010 (GRCm39)	D798V	possibly damaging	Het
Stradb	T	A	1: 59,019,168 (GRCm39)	Y30N	possibly damaging	Het
Syne1	T	A	10: 5,359,798 (GRCm39)	Q328L	probably damaging	Het
Ttc23l	A	C	15: 10,540,006 (GRCm39)	V159G	probably damaging	Het
Vmn2r100	T	C	17: 19,752,215 (GRCm39)	S753P	probably damaging	Het
Vmn2r129	G	T	4: 156,686,778 (GRCm39)		noncoding transcript	Het
Vmn2r39	G	A	7: 9,026,673 (GRCm39)	H443Y	probably benign	Het
Zfp936	A	G	7: 42,839,630 (GRCm39)	T366A	probably benign	Het
Zkscan3	T	C	13: 21,578,119 (GRCm39)	E256G	possibly damaging	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
R1718:Or8b9	UTSW	9	37,766,749 (GRCm39)	missense	probably benign	0.03
R1864:Or8b9	UTSW	9	37,766,560 (GRCm39)	missense	probably damaging	1.00
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'- TCCCCAAGTGTGTTCATACC -3'
(R):5'- TCCCTGATCCAGAGGCAAAC -3'

Sequencing Primer
(F):5'- CAAGTGTGTTCATACCTTTTGTCAG -3'
(R):5'- GTGGTTTGAGGTACATAAAAGCTCC -3'

Posted On

2015-05-14