Mutagenetix > Incidental Mutation

Incidental Mutation 'R6320:Or2b6'

510116

Institutional Source

Beutler Lab

Gene Symbol

Or2b6

Ensembl Gene

ENSMUSG00000036658

Gene Name

olfactory receptor family 2 subfamily B member 6

Synonyms

GA_x6K02T2QHY8-11597382-11598323, MOR256-11, Olfr11

MMRRC Submission

044475-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.350) question?

Stock #

R6320 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21822750-21823691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21823418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 92 (I92L)

Ref Sequence

ENSEMBL: ENSMUSP00000146091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043081] [ENSMUST00000205631]

AlphaFold

Q60890

Predicted Effect

probably damaging
Transcript: ENSMUST00000043081
AA Change: I92L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043099
Gene: ENSMUSG00000036658
AA Change: I92L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	311	4.9e-51	PFAM
Pfam:7tm_1	41	290	7.3e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205631
AA Change: I92L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	G	T	3: 20,369,943 (GRCm39)	A221D	probably benign	Het
Aldh18a1	A	T	19: 40,559,005 (GRCm39)	D280E	probably benign	Het
Apob	G	A	12: 8,039,194 (GRCm39)	D475N	probably benign	Het
Bmi1	C	T	2: 18,689,186 (GRCm39)	T290I	probably benign	Het
Brd8	A	T	18: 34,746,292 (GRCm39)	D139E	possibly damaging	Het
Cacna1e	C	A	1: 154,317,270 (GRCm39)	V1467F	possibly damaging	Het
Cdh15	A	G	8: 123,591,086 (GRCm39)	D445G	probably benign	Het
Ceacam5	T	A	7: 17,481,123 (GRCm39)	L290H	probably damaging	Het
Celsr1	G	T	15: 85,785,160 (GRCm39)	Q3025K	probably benign	Het
Chi3l1	T	A	1: 134,109,996 (GRCm39)	M1K	probably null	Het
Crybg2	T	C	4: 133,808,737 (GRCm39)	S1404P	probably damaging	Het
Cubn	C	A	2: 13,285,006 (GRCm39)	C3470F	probably damaging	Het
Cyp20a1	T	C	1: 60,391,331 (GRCm39)		probably null	Het
Cyp24a1	G	T	2: 170,328,704 (GRCm39)	T408K	probably benign	Het
Cyp2a12	A	T	7: 26,730,577 (GRCm39)	I181F	possibly damaging	Het
Dnm1l	A	T	16: 16,149,952 (GRCm39)	I268N	probably damaging	Het
Eif2a	A	G	3: 58,464,517 (GRCm39)		probably null	Het
Epg5	T	C	18: 78,005,613 (GRCm39)	F701S	probably damaging	Het
Fbxo46	T	C	7: 18,870,466 (GRCm39)	S362P	possibly damaging	Het
Fgf22	A	G	10: 79,592,830 (GRCm39)		probably benign	Het
Fhod1	A	C	8: 106,063,982 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,459,062 (GRCm39)	V2448D	probably damaging	Het
Gm2696	G	T	10: 77,671,972 (GRCm39)		probably benign	Het
Gmpr	T	C	13: 45,685,874 (GRCm39)	S214P	possibly damaging	Het
Krt6a	A	G	15: 101,600,744 (GRCm39)	V308A	probably damaging	Het
Lig3	T	A	11: 82,684,833 (GRCm39)		probably null	Het
Lrrc37a	T	A	11: 103,394,877 (GRCm39)	N183Y	probably benign	Het
Mapk8ip3	C	A	17: 25,125,879 (GRCm39)	G422V	probably damaging	Het
Mks1	T	C	11: 87,746,325 (GRCm39)	S97P	probably benign	Het
Mphosph9	A	T	5: 124,463,024 (GRCm39)	V7E	probably damaging	Het
Msh5	A	G	17: 35,248,900 (GRCm39)	L711P	probably damaging	Het
Naga	T	A	15: 82,216,404 (GRCm39)		probably null	Het
Nherf4	A	G	9: 44,159,980 (GRCm39)	V380A	probably benign	Het
Nlrp10	T	A	7: 108,524,953 (GRCm39)	T176S	possibly damaging	Het
Nqo1	T	C	8: 108,115,582 (GRCm39)	N232D	probably benign	Het
Or1j21	C	G	2: 36,683,585 (GRCm39)	N112K	possibly damaging	Het
P2ry6	A	G	7: 100,587,603 (GRCm39)	F252S	probably damaging	Het
P3h3	G	A	6: 124,831,835 (GRCm39)	R317W	probably benign	Het
Pakap	T	A	4: 57,710,173 (GRCm39)	C373S	probably damaging	Het
Phkb	T	A	8: 86,602,327 (GRCm39)	D39E	probably benign	Het
Psg16	G	A	7: 16,822,112 (GRCm39)	G23D	probably damaging	Het
Ptgr2	T	A	12: 84,349,111 (GRCm39)	I150K	probably benign	Het
Ptprf	A	G	4: 118,070,011 (GRCm39)	V1457A	probably benign	Het
Sart3	A	T	5: 113,889,301 (GRCm39)	Y508N	probably benign	Het
Sh3bp1	C	T	15: 78,795,715 (GRCm39)	P615S	probably damaging	Het
Ska3	A	T	14: 58,054,148 (GRCm39)	N267K	probably benign	Het
Slc26a7	A	G	4: 14,524,498 (GRCm39)	I462T	probably benign	Het
Slu7	C	T	11: 43,332,316 (GRCm39)	A244V	probably benign	Het
Smarca4	C	T	9: 21,548,671 (GRCm39)	P319L	probably damaging	Het
Smg9	A	G	7: 24,120,286 (GRCm39)	D420G	probably benign	Het
Strc	T	A	2: 121,205,439 (GRCm39)	D25V	probably benign	Het
Syne2	T	G	12: 76,108,424 (GRCm39)	V936G	probably damaging	Het
Tbc1d7	C	T	13: 43,306,409 (GRCm39)		probably benign	Het
Terb1	C	A	8: 105,173,831 (GRCm39)	D751Y	probably damaging	Het
Trpc1	A	G	9: 95,603,303 (GRCm39)	Y410H	probably damaging	Het
Ush2a	A	G	1: 188,089,043 (GRCm39)	N333D	probably benign	Het
Usp34	T	C	11: 23,402,520 (GRCm39)	S2438P	probably damaging	Het
Vps35l	T	C	7: 118,353,072 (GRCm39)	V189A	probably benign	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zfp7	G	A	15: 76,774,810 (GRCm39)	G284D	possibly damaging	Het
Zfyve26	A	G	12: 79,286,776 (GRCm39)	S2271P	probably damaging	Het
Zscan18	G	A	7: 12,509,147 (GRCm39)		probably benign	Het

Other mutations in Or2b6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02513:Or2b6	APN	13	21,823,510 (GRCm39)	missense	probably damaging	1.00
R0513:Or2b6	UTSW	13	21,823,119 (GRCm39)	missense	probably benign	0.26
R0928:Or2b6	UTSW	13	21,823,126 (GRCm39)	missense	probably damaging	1.00
R1440:Or2b6	UTSW	13	21,823,560 (GRCm39)	missense	probably benign	0.11
R1673:Or2b6	UTSW	13	21,823,214 (GRCm39)	missense	probably damaging	1.00
R1705:Or2b6	UTSW	13	21,823,331 (GRCm39)	missense	probably damaging	1.00
R2080:Or2b6	UTSW	13	21,823,606 (GRCm39)	missense	probably damaging	0.99
R2187:Or2b6	UTSW	13	21,823,555 (GRCm39)	missense	probably damaging	0.99
R2283:Or2b6	UTSW	13	21,823,190 (GRCm39)	missense	probably damaging	1.00
R2340:Or2b6	UTSW	13	21,822,757 (GRCm39)	missense	probably benign	0.03
R3690:Or2b6	UTSW	13	21,823,508 (GRCm39)	missense	probably damaging	1.00
R4108:Or2b6	UTSW	13	21,822,952 (GRCm39)	missense	probably damaging	1.00
R4739:Or2b6	UTSW	13	21,823,340 (GRCm39)	missense	possibly damaging	0.90
R4740:Or2b6	UTSW	13	21,823,340 (GRCm39)	missense	possibly damaging	0.90
R5335:Or2b6	UTSW	13	21,822,949 (GRCm39)	missense	probably damaging	1.00
R5790:Or2b6	UTSW	13	21,823,046 (GRCm39)	missense	probably benign
R7406:Or2b6	UTSW	13	21,823,316 (GRCm39)	missense	probably benign	0.16
R7508:Or2b6	UTSW	13	21,822,779 (GRCm39)	missense	probably benign	0.19
R8054:Or2b6	UTSW	13	21,823,119 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- CCAATGATCCAGGATACAGCCG -3'
(R):5'- ATCAACCATGGCTGGAGTTTC -3'

Sequencing Primer
(F):5'- GGATACAGCCGCCAACTG -3'
(R):5'- AACCATGGCTGGAGTTTCCACTC -3'

Posted On

2018-04-02