Mutagenetix > Incidental Mutation

Incidental Mutation 'R3824:Or2o1'

275291

Institutional Source

Beutler Lab

Gene Symbol

Or2o1

Ensembl Gene

ENSMUSG00000048378

Gene Name

olfactory receptor family 2 subfamily O member 1

Synonyms

MOR280-1, Olfr1394, GA_x6K02T2QP88-6274566-6273628

MMRRC Submission

040885-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49050843-49051781 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49051620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 260 (S260G)

Ref Sequence

ENSEMBL: ENSMUSP00000149520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046522] [ENSMUST00000052668] [ENSMUST00000216273]

AlphaFold

Q8VET2

Predicted Effect

probably benign
Transcript: ENSMUST00000046522

SMART Domains

Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283

Domain	Start	End	E-Value	Type
IG	44	151	1.24e-8	SMART
Pfam:Ig_2	155	243	9.2e-3	PFAM
Pfam:C2-set_2	156	238	1.7e-9	PFAM
transmembrane domain	259	281	N/A	INTRINSIC
PRY	324	377	8.68e-14	SMART
SPRY	378	503	1.3e-18	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052668
AA Change: S260G

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063062
Gene: ENSMUSG00000048378
AA Change: S260G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	309	6.5e-53	PFAM
Pfam:7TM_GPCR_Srsx	37	233	3e-5	PFAM
Pfam:7tm_1	43	292	2.1e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216273
AA Change: S260G

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

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
2300002M23Rik	T	C	17: 35,878,508 (GRCm39)	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,693,739 (GRCm39)	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,203,607 (GRCm39)		probably null	Het
A2ml1	A	G	6: 128,545,726 (GRCm39)	V467A	probably damaging	Het
Abcc3	T	C	11: 94,259,446 (GRCm39)		probably null	Het
Acad10	A	T	5: 121,760,881 (GRCm39)	M941K	probably benign	Het
Agrn	A	G	4: 156,253,759 (GRCm39)	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930 (GRCm39)	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,443,549 (GRCm39)	Y43C	probably damaging	Het
Btn2a2	T	A	13: 23,664,635 (GRCm39)	T308S	probably benign	Het
C8b	G	T	4: 104,640,206 (GRCm39)	A170S	probably benign	Het
Cabyr	T	A	18: 12,884,747 (GRCm39)	D411E	probably benign	Het
Capn3	T	C	2: 120,314,964 (GRCm39)		probably benign	Het
Cd200r4	T	C	16: 44,641,313 (GRCm39)	F19L	probably benign	Het
Cflar	T	A	1: 58,774,856 (GRCm39)	Y218N	probably benign	Het
Col11a2	T	C	17: 34,273,154 (GRCm39)	Y630H	probably damaging	Het
Coq6	T	C	12: 84,419,189 (GRCm39)		probably benign	Het
Drg2	A	G	11: 60,350,334 (GRCm39)	T98A	possibly damaging	Het
Fry	T	A	5: 150,419,884 (GRCm39)	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,245,222 (GRCm39)	S240P	probably benign	Het
Glmp	G	A	3: 88,233,718 (GRCm39)	V107I	probably damaging	Het
Gls	A	C	1: 52,272,147 (GRCm39)	M2R	possibly damaging	Het
Igfbp4	A	G	11: 98,939,061 (GRCm39)	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621 (GRCm39)	Y645*	probably null	Het
Kat6a	G	T	8: 23,352,380 (GRCm39)	V55F	probably damaging	Het
Kat8	T	A	7: 127,523,654 (GRCm39)	D292E	possibly damaging	Het
Myo19	T	A	11: 84,776,505 (GRCm39)	C54S	probably damaging	Het
Myo5b	C	T	18: 74,794,726 (GRCm39)	H532Y	probably benign	Het
Nckap1	T	C	2: 80,370,904 (GRCm39)	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,490,752 (GRCm39)	V105M	probably benign	Het
Or8b101	A	T	9: 38,020,134 (GRCm39)	I51F	possibly damaging	Het
Or8b1b	T	A	9: 38,375,822 (GRCm39)	C162S	probably benign	Het
Or8c17	T	G	9: 38,179,814 (GRCm39)	S2A	probably benign	Het
Or8k30	T	G	2: 86,339,367 (GRCm39)	L188R	possibly damaging	Het
Palld	T	C	8: 62,162,067 (GRCm39)	D439G	probably damaging	Het
Pcf11	T	C	7: 92,308,828 (GRCm39)		probably benign	Het
Pigo	A	T	4: 43,020,909 (GRCm39)	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,473,283 (GRCm39)		probably null	Het
Plscr3	G	A	11: 69,740,964 (GRCm39)	V267M	probably benign	Het
Pramel24	A	T	4: 143,453,255 (GRCm39)	H121L	probably benign	Het
Prom2	A	G	2: 127,377,593 (GRCm39)		probably benign	Het
Ptk7	A	G	17: 46,876,304 (GRCm39)	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,186,694 (GRCm39)	I1743F	probably benign	Het
Ptprm	A	G	17: 67,116,570 (GRCm39)	V894A	probably benign	Het
Rack1	A	G	11: 48,693,131 (GRCm39)	T105A	probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Sdk1	A	G	5: 141,921,804 (GRCm39)	T267A	probably benign	Het
Slco1a7	T	C	6: 141,700,100 (GRCm39)	Q144R	possibly damaging	Het
Sorcs3	T	A	19: 48,711,395 (GRCm39)	D653E	probably damaging	Het
Spata31e3	G	A	13: 50,399,548 (GRCm39)	S926F	possibly damaging	Het
Spata31f3	A	G	4: 42,873,492 (GRCm39)		probably null	Het
St8sia1	A	G	6: 142,774,751 (GRCm39)	L276P	probably damaging	Het
Sync	T	C	4: 129,188,156 (GRCm39)	V396A	possibly damaging	Het
Taok3	A	G	5: 117,394,002 (GRCm39)	T592A	probably benign	Het
Tas2r104	T	A	6: 131,662,002 (GRCm39)	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,636,293 (GRCm39)	I252S	probably benign	Het
Tmem259	T	C	10: 79,814,282 (GRCm39)	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,873,278 (GRCm39)	N200K	possibly damaging	Het
Usp24	G	A	4: 106,236,263 (GRCm39)	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,286,382 (GRCm39)	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413 (GRCm39)	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,607,466 (GRCm39)	N86H	probably damaging	Het
Zfp12	T	C	5: 143,226,077 (GRCm39)	V72A	probably benign	Het

Other mutations in Or2o1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01525:Or2o1	APN	11	49,051,501 (GRCm39)	missense	probably damaging	1.00
IGL01603:Or2o1	APN	11	49,051,438 (GRCm39)	missense	probably damaging	1.00
IGL01736:Or2o1	APN	11	49,051,354 (GRCm39)	missense	probably damaging	1.00
IGL02246:Or2o1	APN	11	49,050,921 (GRCm39)	missense	probably benign	0.44
IGL02321:Or2o1	APN	11	49,051,602 (GRCm39)	missense	probably damaging	1.00
IGL03405:Or2o1	APN	11	49,051,713 (GRCm39)	splice site	probably null
R0358:Or2o1	UTSW	11	49,051,071 (GRCm39)	missense	probably benign	0.00
R1967:Or2o1	UTSW	11	49,051,675 (GRCm39)	missense	probably benign	0.06
R2472:Or2o1	UTSW	11	49,051,198 (GRCm39)	missense	possibly damaging	0.76
R4105:Or2o1	UTSW	11	49,051,375 (GRCm39)	missense	possibly damaging	0.51
R4255:Or2o1	UTSW	11	49,051,262 (GRCm39)	nonsense	probably null
R4716:Or2o1	UTSW	11	49,051,717 (GRCm39)	missense	probably damaging	1.00
R5545:Or2o1	UTSW	11	49,051,453 (GRCm39)	missense	probably damaging	1.00
R6894:Or2o1	UTSW	11	49,051,186 (GRCm39)	missense	probably benign	0.06
R6999:Or2o1	UTSW	11	49,051,239 (GRCm39)	missense	possibly damaging	0.53
R8077:Or2o1	UTSW	11	49,051,312 (GRCm39)	missense	probably damaging	1.00
R8266:Or2o1	UTSW	11	49,051,352 (GRCm39)	nonsense	probably null
R8387:Or2o1	UTSW	11	49,051,497 (GRCm39)	missense	probably damaging	1.00
R8712:Or2o1	UTSW	11	49,051,297 (GRCm39)	missense	probably benign	0.39
R9160:Or2o1	UTSW	11	49,051,261 (GRCm39)	missense	probably damaging	1.00
R9542:Or2o1	UTSW	11	49,051,073 (GRCm39)	nonsense	probably null
Z1177:Or2o1	UTSW	11	49,051,692 (GRCm39)	frame shift	probably null
Z1177:Or2o1	UTSW	11	49,051,125 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CTCCTGTGCAGACACCTCAC -3'
(R):5'- AGTCCTACCTAGCCAGAGAGG -3'

Sequencing Primer
(F):5'- AGGACCTCATCTATGCATGTTG -3'
(R):5'- CCCAAAAGGCATAGAGGAAGCATTG -3'

Posted On

2015-04-02