Mutagenetix > Incidental Mutation

Incidental Mutation 'R6999:Or2o1'

544408

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

045104-MU

Accession Numbers

Essential gene?

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

Stock #

R6999 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49050843-49051781 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49051239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 133 (R133G)

Ref Sequence

ENSEMBL: ENSMUSP00000149520 (fasta)

Gene Model

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

AlphaFold

Q8VET2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052668
AA Change: R133G

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063062
Gene: ENSMUSG00000048378
AA Change: R133G

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: R133G

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,356,321 (GRCm39)	Q629*	probably null	Het
Acss3	C	A	10: 106,889,362 (GRCm39)	G153C	probably damaging	Het
Alpk2	A	G	18: 65,437,584 (GRCm39)	S1270P	probably damaging	Het
Ankrd10	A	T	8: 11,669,106 (GRCm39)	L215Q	probably damaging	Het
Ankrd6	A	G	4: 32,823,459 (GRCm39)	S188P	probably benign	Het
Brinp2	A	G	1: 158,078,875 (GRCm39)	M316T	probably benign	Het
Bsn	A	G	9: 107,990,632 (GRCm39)	S1707P	probably benign	Het
C2cd4b	C	T	9: 67,667,571 (GRCm39)	A189V	probably benign	Het
Camk2b	C	T	11: 5,922,321 (GRCm39)	R556H	probably damaging	Het
Cfap126	A	G	1: 170,953,733 (GRCm39)	D101G	possibly damaging	Het
Chd5	A	T	4: 152,458,891 (GRCm39)	I1085F	probably damaging	Het
Chp2	A	G	7: 121,821,092 (GRCm39)	E151G	probably damaging	Het
Chrd	A	G	16: 20,554,402 (GRCm39)	T370A	probably benign	Het
Chrnb2	C	T	3: 89,668,622 (GRCm39)	R231H	possibly damaging	Het
Crisp4	T	A	1: 18,207,259 (GRCm39)	I10F	possibly damaging	Het
Csnka2ip	T	A	16: 64,298,933 (GRCm39)	H477L	unknown	Het
Ctu1	T	A	7: 43,324,662 (GRCm39)	F34I	probably damaging	Het
Dctn1	T	A	6: 83,168,263 (GRCm39)	S407T	possibly damaging	Het
Ech1	T	C	7: 28,529,689 (GRCm39)	F191L	probably benign	Het
Enpp3	T	C	10: 24,684,064 (GRCm39)	D60G	probably damaging	Het
Epha6	T	C	16: 60,245,533 (GRCm39)	Y222C	possibly damaging	Het
Eppk1	A	T	15: 75,993,423 (GRCm39)	W1153R	probably benign	Het
Fbxo4	C	T	15: 4,007,437 (GRCm39)	D76N	probably damaging	Het
Fndc7	G	A	3: 108,783,964 (GRCm39)	A215V	probably benign	Het
Gemin5	C	T	11: 58,015,947 (GRCm39)	R1352Q	probably benign	Het
Gm9639	T	C	10: 77,630,525 (GRCm39)		probably benign	Het
Gm973	C	A	1: 59,673,251 (GRCm39)	Q160K	unknown	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grid2	A	T	6: 64,053,893 (GRCm39)	Q364L	possibly damaging	Het
Kcnn2	T	G	18: 45,725,444 (GRCm39)	S313R	probably damaging	Het
Kera	T	C	10: 97,444,814 (GRCm39)	Y58H	probably damaging	Het
Meiosin	A	G	7: 18,836,300 (GRCm39)		probably benign	Het
Mtfr2	T	C	10: 20,229,862 (GRCm39)	L105P	probably benign	Het
Myom2	A	G	8: 15,134,531 (GRCm39)	T445A	probably benign	Het
Or8b1c	T	A	9: 38,384,535 (GRCm39)	L164Q	probably damaging	Het
Pcdha12	T	C	18: 37,153,329 (GRCm39)	L16P	probably benign	Het
Pcdhb10	T	C	18: 37,546,171 (GRCm39)	Y416H	probably damaging	Het
Pde8b	T	C	13: 95,223,342 (GRCm39)	Y304C	possibly damaging	Het
Pkd1	T	C	17: 24,797,475 (GRCm39)	I2605T	possibly damaging	Het
Pnn	T	C	12: 59,117,085 (GRCm39)		probably null	Het
Ppa1	G	A	10: 61,496,796 (GRCm39)	G95S	probably damaging	Het
Rapgef4	G	T	2: 72,069,469 (GRCm39)	A730S	probably damaging	Het
Scap	A	G	9: 110,213,715 (GRCm39)	Y1226C	probably damaging	Het
Scn2a	A	T	2: 65,512,453 (GRCm39)	T197S	probably benign	Het
Slc2a6	GCTTCC	GC	2: 26,916,047 (GRCm39)		probably null	Het
Slc8a3	T	C	12: 81,361,529 (GRCm39)	Y430C	probably benign	Het
Tead3	T	C	17: 28,560,506 (GRCm39)	T33A	probably benign	Het
Tep1	T	A	14: 51,088,162 (GRCm39)	I792F	possibly damaging	Het
Trpm2	A	T	10: 77,771,725 (GRCm39)	I638N	probably damaging	Het
Tuba1c	A	G	15: 98,935,193 (GRCm39)	D218G	probably benign	Het
Tubgcp4	T	A	2: 121,022,778 (GRCm39)	W495R	probably damaging	Het
Tut1	T	C	19: 8,943,382 (GRCm39)	L823P	probably damaging	Het
Ube2q2l	T	C	6: 136,378,272 (GRCm39)	N186S	probably benign	Het
Umodl1	C	T	17: 31,218,097 (GRCm39)	A1228V	probably damaging	Het
Vmn1r235	T	A	17: 21,482,127 (GRCm39)	F151I	probably benign	Het
Vmn2r45	T	A	7: 8,486,219 (GRCm39)	K356N	probably benign	Het
Zfp318	T	A	17: 46,710,969 (GRCm39)	N897K	probably damaging	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
R3824:Or2o1	UTSW	11	49,051,620 (GRCm39)	missense	possibly damaging	0.48
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
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'- TGCACAGTGGTACCCAAGATG -3'
(R):5'- GAGGCAGCAGTAACATCACC -3'

Sequencing Primer
(F):5'- GATGGCAACCAACTTTCTCTCAGG -3'
(R):5'- TCAAATAGTGAGGTGTCTGCAC -3'

Posted On

2019-05-13