Mutagenetix > Incidental Mutation

Incidental Mutation 'R9021:Or2i1'

686246

Institutional Source

Beutler Lab

Gene Symbol

Or2i1

Ensembl Gene

ENSMUSG00000043827

Gene Name

olfactory receptor family 2 subfamily I member 1

Synonyms

GA_x6K02T2PSCP-1637650-1636712, MOR256-32P, Olfr94

MMRRC Submission

068851-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37507697-37508857 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37508380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 85 (R85S)

Ref Sequence

ENSEMBL: ENSMUSP00000153315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038844] [ENSMUST00000055324] [ENSMUST00000222190]

AlphaFold

Q6UAH0

Predicted Effect

probably benign
Transcript: ENSMUST00000038844

SMART Domains

Protein: ENSMUSP00000035808
Gene: ENSMUSG00000035186

Domain	Start	End	E-Value	Type
UBQ	5	76	8.61e-9	SMART
UBQ	88	158	9.23e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000055324
AA Change: R160S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055232
Gene: ENSMUSG00000043827
AA Change: R160S

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:7tm_4	105	382	6.5e-39	PFAM
Pfam:7TM_GPCR_Srsx	109	220	2.1e-9	PFAM
Pfam:7tm_1	115	365	3e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222190
AA Change: R85S

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

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

Validation Efficiency

98% (64/65)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 104,003,864 (GRCm39)	D770G	possibly damaging	Het
Amph	G	A	13: 19,284,071 (GRCm39)	G200D	probably benign	Het
Asap2	T	A	12: 21,253,999 (GRCm39)	L170H	possibly damaging	Het
Asap3	T	C	4: 135,966,299 (GRCm39)		probably null	Het
Atxn2l	A	T	7: 126,094,712 (GRCm39)	M595K	probably benign	Het
Bltp1	T	A	3: 37,052,493 (GRCm39)	D3064E	probably benign	Het
Ccnf	A	T	17: 24,445,679 (GRCm39)	Y522*	probably null	Het
Ceacam5	A	T	7: 17,448,877 (GRCm39)	Y81F	possibly damaging	Het
Chd2	A	T	7: 73,091,393 (GRCm39)	M1616K	probably benign	Het
Clint1	T	A	11: 45,797,042 (GRCm39)	S374R	probably benign	Het
Col6a6	A	T	9: 105,586,745 (GRCm39)	F1759I	possibly damaging	Het
Crocc	T	A	4: 140,749,674 (GRCm39)	I1487F	probably benign	Het
Dll4	TC	T	2: 119,163,054 (GRCm39)		probably null	Het
Dop1a	T	C	9: 86,402,490 (GRCm39)	I1230T	probably benign	Het
Dsp	A	T	13: 38,380,808 (GRCm39)	I2518L	possibly damaging	Het
Eps8l2	G	T	7: 140,936,117 (GRCm39)	V224L	possibly damaging	Het
Etv1	T	C	12: 38,830,971 (GRCm39)	V13A	probably benign	Het
Fam78a	T	C	2: 31,959,313 (GRCm39)	M266V	probably benign	Het
Fam81a	A	G	9: 70,017,538 (GRCm39)		probably null	Het
Fhad1	T	C	4: 141,709,620 (GRCm39)	I245V	probably damaging	Het
Flot2	T	C	11: 77,949,805 (GRCm39)	V378A	probably benign	Het
Fras1	T	A	5: 96,888,609 (GRCm39)	S2718R	probably damaging	Het
Gata3os	T	A	2: 9,887,345 (GRCm39)		probably benign	Het
Gm14305	A	G	2: 176,413,167 (GRCm39)	K353R	possibly damaging	Het
Inppl1	A	C	7: 101,480,915 (GRCm39)	V315G	probably damaging	Het
Kbtbd6	A	T	14: 79,690,822 (GRCm39)	I506F	probably damaging	Het
Klf6	G	C	13: 5,915,160 (GRCm39)	G200R	probably benign	Het
Lrp6	A	G	6: 134,518,930 (GRCm39)	I45T	probably benign	Het
Lrriq4	T	G	3: 30,704,401 (GRCm39)	V143G	probably benign	Het
Map2k2	G	T	10: 80,955,159 (GRCm39)	G217C	probably damaging	Het
Mcm10	T	C	2: 4,997,782 (GRCm39)	N813S	probably benign	Het
Mfng	T	A	15: 78,657,348 (GRCm39)	N42I	probably benign	Het
Mical1	A	G	10: 41,361,141 (GRCm39)	D808G	probably benign	Het
Mmp14	T	C	14: 54,673,632 (GRCm39)	F99L	probably benign	Het
Mroh8	A	T	2: 157,064,787 (GRCm39)	V763E	probably benign	Het
Mycbp2	G	T	14: 103,551,752 (GRCm39)	P193T	probably benign	Het
Myo1b	T	C	1: 51,821,142 (GRCm39)	D447G	possibly damaging	Het
Myoz2	T	A	3: 122,807,284 (GRCm39)		probably benign	Het
Narf	C	A	11: 121,136,209 (GRCm39)	P195Q	probably damaging	Het
Nfatc3	T	A	8: 106,818,745 (GRCm39)	F496I	probably damaging	Het
Nudt13	A	G	14: 20,360,772 (GRCm39)	Y225C	probably damaging	Het
Or10ab5	A	T	7: 108,245,428 (GRCm39)	Y118*	probably null	Het
Or11h4	T	G	14: 50,974,554 (GRCm39)	I22L	probably benign	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Osbpl10	C	T	9: 114,807,939 (GRCm39)	A65V	unknown	Het
Pdcd2l	A	G	7: 33,885,760 (GRCm39)	L308P	probably damaging	Het
Pitx2	T	A	3: 129,008,432 (GRCm39)		probably null	Het
Pms2	T	A	5: 143,862,744 (GRCm39)	F617Y	probably damaging	Het
Poc1b	A	G	10: 98,980,183 (GRCm39)	N180S	possibly damaging	Het
Poln	T	A	5: 34,286,485 (GRCm39)	M228L	probably benign	Het
Prex1	C	A	2: 166,432,429 (GRCm39)	V707F	possibly damaging	Het
Rasal2	A	T	1: 157,058,514 (GRCm39)	V12D	unknown	Het
Ripk1	A	G	13: 34,205,373 (GRCm39)	E284G	probably benign	Het
Rpa2	T	C	4: 132,499,251 (GRCm39)	W107R	probably damaging	Het
Selp	A	G	1: 163,954,177 (GRCm39)	Y159C	probably damaging	Het
Serpina1a	A	T	12: 103,824,293 (GRCm39)	W30R	probably benign	Het
Skic2	A	G	17: 35,065,579 (GRCm39)	V325A	probably damaging	Het
Slco6d1	A	G	1: 98,371,396 (GRCm39)	R294G	probably benign	Het
Supt5	A	T	7: 28,016,671 (GRCm39)	I737N	probably damaging	Het
Thap11	T	C	8: 106,582,660 (GRCm39)	V223A	probably damaging	Het
Trabd	T	A	15: 88,968,913 (GRCm39)	S144T	possibly damaging	Het
Trim24	T	A	6: 37,933,949 (GRCm39)	S701T	probably damaging	Het
Trim52	C	T	14: 106,344,986 (GRCm39)	P215S	possibly damaging	Het
Vmn1r172	G	T	7: 23,359,749 (GRCm39)	L211F	probably damaging	Het
Vmn2r86	A	C	10: 130,282,934 (GRCm39)	Y561D	probably damaging	Het
Zfp384	C	A	6: 125,013,336 (GRCm39)	A468E		Het
Zfp658	A	G	7: 43,223,381 (GRCm39)	H552R	possibly damaging	Het
Zranb2	T	C	3: 157,250,720 (GRCm39)	V297A	unknown	Het

Other mutations in Or2i1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Or2i1	APN	17	37,507,833 (GRCm39)	missense	probably benign	0.03
IGL01413:Or2i1	APN	17	37,508,554 (GRCm39)	missense	possibly damaging	0.75
ANU23:Or2i1	UTSW	17	37,507,833 (GRCm39)	missense	probably benign	0.03
R1822:Or2i1	UTSW	17	37,507,722 (GRCm39)	unclassified	probably benign
R4731:Or2i1	UTSW	17	37,507,915 (GRCm39)	missense	probably damaging	0.98
R4732:Or2i1	UTSW	17	37,507,915 (GRCm39)	missense	probably damaging	0.98
R4733:Or2i1	UTSW	17	37,507,915 (GRCm39)	missense	probably damaging	0.98
R5897:Or2i1	UTSW	17	37,508,151 (GRCm39)	missense	probably damaging	1.00
R7894:Or2i1	UTSW	17	37,508,047 (GRCm39)	missense	probably damaging	1.00
R8716:Or2i1	UTSW	17	37,508,299 (GRCm39)	missense	possibly damaging	0.93
R8928:Or2i1	UTSW	17	37,507,861 (GRCm39)	missense	probably damaging	0.99
R9594:Or2i1	UTSW	17	37,508,308 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- ATGAAATGGTCCAGACAGCG -3'
(R):5'- GCTTCCTACTGCTGGGTTTCAG -3'

Sequencing Primer
(F):5'- ACCGAGCCAGGAGACTC -3'
(R):5'- GTTTCAGCGACTGGCCCTC -3'

Posted On

2021-10-11