Mutagenetix > Incidental Mutation

Incidental Mutation 'R6891:Or2g1'

537248

Institutional Source

Beutler Lab

Gene Symbol

Or2g1

Ensembl Gene

ENSMUSG00000045202

Gene Name

olfactory receptor family 2 subfamily G member 1

Synonyms

MOR256-9, GA_x6K02T2PSCP-2255106-2256035, Olfr123

MMRRC Submission

044985-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6891 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38106337-38107266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38106395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 20 (Q20R)

Ref Sequence

ENSEMBL: ENSMUSP00000149802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054748] [ENSMUST00000214770] [ENSMUST00000215168] [ENSMUST00000216051] [ENSMUST00000216478]

AlphaFold

Q8VFQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000054748
AA Change: Q20R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058678
Gene: ENSMUSG00000045202
AA Change: Q20R

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	23	163	2.9e-6	PFAM
Pfam:7tm_4	29	306	2.3e-44	PFAM
Pfam:7TM_GPCR_Srsx	33	144	2.4e-5	PFAM
Pfam:7tm_1	39	288	1.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214770
AA Change: Q20R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215168

Predicted Effect

probably benign
Transcript: ENSMUST00000216051
AA Change: Q20R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216478

Coding Region Coverage

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

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	C	T	9: 107,806,346 (GRCm39)	A223V	probably benign	Het
Agbl5	G	T	5: 31,052,522 (GRCm39)	R61L	probably damaging	Het
Agmat	A	T	4: 141,483,192 (GRCm39)	T209S	probably benign	Het
Ankrd34a	G	A	3: 96,505,335 (GRCm39)	V180I	probably benign	Het
Anks1	C	T	17: 28,276,398 (GRCm39)	T1047M	probably damaging	Het
Arhgap21	T	A	2: 20,855,142 (GRCm39)	I1407F	probably damaging	Het
Armc1	C	A	3: 19,189,205 (GRCm39)	C183F	probably damaging	Het
Atg13	A	G	2: 91,516,136 (GRCm39)	M196T	probably benign	Het
AU040320	G	T	4: 126,740,231 (GRCm39)	S864I	possibly damaging	Het
Btn2a2	T	C	13: 23,667,014 (GRCm39)	D197G	probably benign	Het
Carmil1	A	G	13: 24,325,706 (GRCm39)	I208T	probably benign	Het
Cbs	T	A	17: 31,841,431 (GRCm39)	R263S	probably damaging	Het
Ccdc7a	C	A	8: 129,753,119 (GRCm39)	R204L	probably damaging	Het
Cdhr1	A	T	14: 36,819,334 (GRCm39)		probably null	Het
Cers4	G	A	8: 4,573,731 (GRCm39)	R378Q	probably damaging	Het
Chst1	T	G	2: 92,444,088 (GRCm39)	L187V	probably benign	Het
Clec4e	A	T	6: 123,260,565 (GRCm39)	N164K	probably damaging	Het
Cln3	T	A	7: 126,181,975 (GRCm39)	D29V	possibly damaging	Het
Crybg2	A	G	4: 133,809,148 (GRCm39)	S187G	probably benign	Het
Ddx1	A	T	12: 13,286,096 (GRCm39)	N285K	probably benign	Het
Dmxl2	A	G	9: 54,387,664 (GRCm39)	I58T	probably damaging	Het
Dock4	A	G	12: 40,829,135 (GRCm39)	Y1007C	probably damaging	Het
Eral1	C	T	11: 77,966,559 (GRCm39)	V234I	possibly damaging	Het
Fads2b	C	A	2: 85,319,149 (GRCm39)	M384I	possibly damaging	Het
Fads2b	T	G	2: 85,319,157 (GRCm39)	T382P	probably damaging	Het
Fam161b	A	G	12: 84,401,554 (GRCm39)	F400S	probably damaging	Het
Fmnl3	T	C	15: 99,223,754 (GRCm39)	D314G	probably damaging	Het
Foxred2	A	T	15: 77,839,909 (GRCm39)	L127Q	probably damaging	Het
Gjd2	G	A	2: 113,843,575 (GRCm39)	A14V	possibly damaging	Het
Gon4l	A	G	3: 88,766,173 (GRCm39)		probably null	Het
Gpr151	T	A	18: 42,711,985 (GRCm39)	D231V	probably benign	Het
Gzf1	A	T	2: 148,526,689 (GRCm39)	K387*	probably null	Het
Hfm1	T	A	5: 107,065,240 (GRCm39)	K146N	possibly damaging	Het
Hgf	G	A	5: 16,809,920 (GRCm39)		probably null	Het
Isoc2b	A	G	7: 4,854,487 (GRCm39)	S15P	probably damaging	Het
Itga5	A	G	15: 103,265,970 (GRCm39)	S126P	probably damaging	Het
Kat6b	A	G	14: 21,719,104 (GRCm39)	D1152G	probably benign	Het
Kcna4	C	T	2: 107,126,652 (GRCm39)	S462F	probably damaging	Het
Kif24	A	T	4: 41,394,168 (GRCm39)	C902S	probably benign	Het
Lama2	A	T	10: 27,204,068 (GRCm39)	C523*	probably null	Het
Lama2	G	C	10: 27,204,078 (GRCm39)	S520*	probably null	Het
Ltf	T	C	9: 110,854,181 (GRCm39)	V332A	probably benign	Het
Mapkap1	T	C	2: 34,453,153 (GRCm39)	F349L	probably damaging	Het
Mdm1	A	G	10: 117,983,937 (GRCm39)	N188D	probably benign	Het
Mfn1	T	C	3: 32,631,252 (GRCm39)	S730P	possibly damaging	Het
Mrgprd	T	A	7: 144,876,087 (GRCm39)	D319E	probably benign	Het
Mrps9	C	A	1: 42,944,573 (GRCm39)	L364I	probably damaging	Het
Myo1h	C	T	5: 114,487,673 (GRCm39)	R626C	probably damaging	Het
Nme3	T	C	17: 25,115,829 (GRCm39)	S61P	probably benign	Het
Or52e18	A	G	7: 104,609,192 (GRCm39)	I249T	probably damaging	Het
Pald1	A	G	10: 61,184,311 (GRCm39)		probably null	Het
Papola	A	T	12: 105,775,950 (GRCm39)		probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Plch1	T	C	3: 63,605,504 (GRCm39)	T1458A	probably benign	Het
Polr3e	A	G	7: 120,543,873 (GRCm39)	Q659R	probably damaging	Het
Pramel38	C	A	5: 94,365,978 (GRCm39)	P32Q	probably damaging	Het
Shoc2	T	C	19: 53,976,548 (GRCm39)	V146A	probably benign	Het
Slc15a1	T	C	14: 121,713,442 (GRCm39)	T362A	probably benign	Het
Smpd3	A	G	8: 106,991,300 (GRCm39)	Y418H	probably damaging	Het
Sorcs1	A	T	19: 50,213,557 (GRCm39)	C723*	probably null	Het
Supt7l	T	A	5: 31,680,365 (GRCm39)	N16Y	probably damaging	Het
Syngr2	T	C	11: 117,703,499 (GRCm39)	V105A	probably damaging	Het
Thrb	T	A	14: 17,981,899 (GRCm38)	V8E	probably benign	Het
Tlx1	A	T	19: 45,139,757 (GRCm39)	I135F	probably damaging	Het
Tnfaip3	A	G	10: 18,887,417 (GRCm39)	I36T	probably damaging	Het
Troap	A	G	15: 98,980,569 (GRCm39)	Y583C	possibly damaging	Het
Usp17lb	T	C	7: 104,490,307 (GRCm39)	K207E	probably benign	Het
Vmn2r10	C	T	5: 109,149,845 (GRCm39)	V400M	probably damaging	Het
Wdr49	A	T	3: 75,240,590 (GRCm39)		probably null	Het
Wdr64	G	T	1: 175,533,634 (GRCm39)	W90L	probably damaging	Het
Yme1l1	A	G	2: 23,085,401 (GRCm39)	E662G	probably damaging	Het
Zfp334	C	T	2: 165,224,644 (GRCm39)	V68I	probably benign	Het

Other mutations in Or2g1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01409:Or2g1	APN	17	38,106,413 (GRCm39)	missense	probably damaging	0.99
IGL03030:Or2g1	APN	17	38,107,162 (GRCm39)	missense	probably damaging	1.00
IGL03107:Or2g1	APN	17	38,106,679 (GRCm39)	missense	probably benign	0.01
R0329:Or2g1	UTSW	17	38,106,880 (GRCm39)	missense	probably benign	0.01
R0330:Or2g1	UTSW	17	38,106,880 (GRCm39)	missense	probably benign	0.01
R0524:Or2g1	UTSW	17	38,106,496 (GRCm39)	nonsense	probably null
R0581:Or2g1	UTSW	17	38,106,993 (GRCm39)	missense	probably damaging	1.00
R1288:Or2g1	UTSW	17	38,106,584 (GRCm39)	missense	probably damaging	0.98
R1897:Or2g1	UTSW	17	38,107,075 (GRCm39)	missense	probably benign	0.22
R3751:Or2g1	UTSW	17	38,107,123 (GRCm39)	missense	possibly damaging	0.95
R3753:Or2g1	UTSW	17	38,107,123 (GRCm39)	missense	possibly damaging	0.95
R3780:Or2g1	UTSW	17	38,106,895 (GRCm39)	missense	probably damaging	1.00
R3947:Or2g1	UTSW	17	38,107,006 (GRCm39)	missense	probably benign
R5925:Or2g1	UTSW	17	38,106,482 (GRCm39)	missense	probably benign	0.00
R5987:Or2g1	UTSW	17	38,107,248 (GRCm39)	missense	probably benign
R6369:Or2g1	UTSW	17	38,106,387 (GRCm39)	missense	probably benign	0.02
R7320:Or2g1	UTSW	17	38,107,248 (GRCm39)	missense	probably benign
R7997:Or2g1	UTSW	17	38,107,053 (GRCm39)	nonsense	probably null
R8153:Or2g1	UTSW	17	38,106,367 (GRCm39)	missense	probably benign	0.00
R8793:Or2g1	UTSW	17	38,107,255 (GRCm39)	missense	probably benign	0.21
R9348:Or2g1	UTSW	17	38,106,992 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGTCATATCCTTTCCGTGAC -3'
(R):5'- TCAGGTTCCATAGCAGTTGG -3'

Sequencing Primer
(F):5'- TCCTTTCCGTGACAAAAATCTAC -3'
(R):5'- TTCCATAGCAGTTGGGGGACAATAC -3'

Posted On

2018-10-18