Mutagenetix > Incidental Mutation

Incidental Mutation 'R1897:Or2g1'

212085

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

039917-MU

Accession Numbers

Essential gene?

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

Stock #

R1897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38106337-38107266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 38107075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 247 (S247A)

Ref Sequence

ENSEMBL: ENSMUSP00000149802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054748] [ENSMUST00000214770] [ENSMUST00000215168] [ENSMUST00000216051] [ENSMUST00000216478] [ENSMUST00000217365]

AlphaFold

Q8VFQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000054748
AA Change: S247A

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058678
Gene: ENSMUSG00000045202
AA Change: S247A

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

noncoding transcript
Transcript: ENSMUST00000174446

Predicted Effect

probably benign
Transcript: ENSMUST00000214770
AA Change: S247A

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000215168

Predicted Effect

probably benign
Transcript: ENSMUST00000216051
AA Change: S247A

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000216478

Predicted Effect

probably benign
Transcript: ENSMUST00000217365

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

99% (72/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	A	G	1: 155,434,564 (GRCm39)	S61G	probably damaging	Het
Acot12	A	G	13: 91,932,516 (GRCm39)	N504S	probably benign	Het
Adcy3	C	T	12: 4,223,450 (GRCm39)		probably benign	Het
Adcyap1r1	A	T	6: 55,456,179 (GRCm39)	H168L	probably damaging	Het
Adgrd1	A	G	5: 129,206,065 (GRCm39)	E213G	probably benign	Het
Aldh1l2	G	T	10: 83,338,389 (GRCm39)	T510K	probably damaging	Het
Apol7e	A	T	15: 77,602,094 (GRCm39)	M231L	probably benign	Het
Asb1	C	A	1: 91,474,647 (GRCm39)		probably null	Het
Atf7ip2	C	T	16: 10,028,948 (GRCm39)	P160L	probably damaging	Het
Atp8a1	A	G	5: 67,895,772 (GRCm39)	L554P	probably damaging	Het
Ccdc18	A	T	5: 108,343,908 (GRCm39)	M884L	probably benign	Het
Ccdc93	A	G	1: 121,418,941 (GRCm39)	I499V	probably benign	Het
Ccl20	A	G	1: 83,095,616 (GRCm39)	D60G	probably damaging	Het
Cdhr3	T	C	12: 33,095,192 (GRCm39)	T626A	possibly damaging	Het
Cep250	A	G	2: 155,818,015 (GRCm39)	E789G	probably damaging	Het
Cmpk2	T	C	12: 26,524,046 (GRCm39)	L281P	probably damaging	Het
Col6a6	A	T	9: 105,662,943 (GRCm39)	M198K	possibly damaging	Het
Crocc	G	A	4: 140,746,047 (GRCm39)	R1691C	probably damaging	Het
Csf1	C	T	3: 107,655,595 (GRCm39)	V90M	probably damaging	Het
Cul2	T	G	18: 3,414,164 (GRCm39)	M86R	probably benign	Het
Dbndd2	T	C	2: 164,330,584 (GRCm39)	F79S	probably damaging	Het
Dkk1	G	T	19: 30,526,678 (GRCm39)	N34K	possibly damaging	Het
Dnah6	T	A	6: 73,158,745 (GRCm39)	L619F	probably benign	Het
Eif2b5	T	C	16: 20,325,787 (GRCm39)	V588A	probably damaging	Het
Elf3	A	T	1: 135,184,875 (GRCm39)	Y104N	probably damaging	Het
Fahd2a	T	C	2: 127,278,530 (GRCm39)	D272G	probably damaging	Het
Fbxw15	A	T	9: 109,387,271 (GRCm39)	C188*	probably null	Het
Fbxw8	T	C	5: 118,266,941 (GRCm39)	Y174C	probably benign	Het
Gnl1	C	A	17: 36,299,584 (GRCm39)	P585Q	possibly damaging	Het
Greb1l	T	C	18: 10,498,992 (GRCm39)	S292P	probably benign	Het
Gsk3b	G	A	16: 38,037,446 (GRCm39)		probably null	Het
Hcls1	C	T	16: 36,783,005 (GRCm39)	P452L	probably damaging	Het
Hdlbp	A	T	1: 93,350,007 (GRCm39)		probably benign	Het
Hecw1	A	G	13: 14,552,525 (GRCm39)	S25P	probably damaging	Het
Hells	T	C	19: 38,928,928 (GRCm39)	V100A	probably benign	Het
Isl1	C	T	13: 116,439,866 (GRCm39)	E161K	probably benign	Het
Klra9	G	T	6: 130,162,555 (GRCm39)	N160K	possibly damaging	Het
Lama4	T	C	10: 38,936,182 (GRCm39)	V619A	probably damaging	Het
Mpc1	G	A	17: 8,515,710 (GRCm39)	R134Q	possibly damaging	Het
Myo5c	A	T	9: 75,199,523 (GRCm39)	N1377I	probably benign	Het
Myrf	T	C	19: 10,195,596 (GRCm39)	I607V	probably benign	Het
Or8g53	A	T	9: 39,683,361 (GRCm39)	I245K	probably damaging	Het
Pik3c2b	A	G	1: 132,994,654 (GRCm39)	D206G	possibly damaging	Het
Pipox	A	G	11: 77,773,568 (GRCm39)	Y228H	probably damaging	Het
Pitrm1	T	A	13: 6,610,131 (GRCm39)	V401D	possibly damaging	Het
Plod1	C	T	4: 148,010,657 (GRCm39)	E265K	probably damaging	Het
Ptpn21	A	T	12: 98,646,664 (GRCm39)		probably null	Het
Qars1	C	T	9: 108,391,282 (GRCm39)	Q7*	probably null	Het
Rpap2	T	A	5: 107,780,961 (GRCm39)	V479E	possibly damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Rusc2	A	G	4: 43,421,749 (GRCm39)	Y723C	probably damaging	Het
Ryr2	A	T	13: 11,765,818 (GRCm39)	M1306K	probably benign	Het
Sesn3	A	C	9: 14,219,941 (GRCm39)	Y110S	probably damaging	Het
Sgce	C	T	6: 4,691,511 (GRCm39)	V319I	probably benign	Het
Slc15a5	G	T	6: 138,056,762 (GRCm39)	F51L	possibly damaging	Het
Slit2	T	A	5: 48,395,765 (GRCm39)	C723S	probably damaging	Het
Sncaip	A	G	18: 53,027,862 (GRCm39)		probably null	Het
Snx2	T	A	18: 53,330,950 (GRCm39)	D138E	probably damaging	Het
Spef2	A	T	15: 9,729,740 (GRCm39)	L126*	probably null	Het
Stam	T	C	2: 14,133,837 (GRCm39)	S195P	probably damaging	Het
Strn	T	C	17: 78,990,271 (GRCm39)	I82V	probably benign	Het
Synj2	T	A	17: 6,072,412 (GRCm39)	C202*	probably null	Het
Tecpr2	A	G	12: 110,899,681 (GRCm39)	D683G	probably benign	Het
Tfec	A	G	6: 16,835,307 (GRCm39)	V157A	probably damaging	Het
Tff1	T	G	17: 31,383,912 (GRCm39)	Q28P	probably benign	Het
Vmn2r86	A	G	10: 130,288,314 (GRCm39)	Y396H	probably damaging	Het
Vmn2r87	A	T	10: 130,307,829 (GRCm39)	M803K	probably damaging	Het
Vmn2r90	A	G	17: 17,953,566 (GRCm39)	K577E	probably damaging	Het
Vrk1	T	C	12: 106,002,799 (GRCm39)		probably benign	Het
Wdr20	A	G	12: 110,760,157 (GRCm39)	T348A	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
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
R6891:Or2g1	UTSW	17	38,106,395 (GRCm39)	missense	probably benign
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'- TGATCAAGCTTGCCTGTGTG -3'
(R):5'- ATCGTAAAGTCCTGTCACACTCC -3'

Sequencing Primer
(F):5'- TGGACATTCATGCCAATGAGGTC -3'
(R):5'- GTCACACTCCAGAGGCTCTATTGAAG -3'

Posted On

2014-06-30