Mutagenetix > Incidental Mutation

Incidental Mutation 'R9348:Or2g1'

707944

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

Accession Numbers

Essential gene?

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

Stock #

R9348 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38106337-38107266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38106992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 219 (I219T)

Ref Sequence

ENSEMBL: ENSMUSP00000149802 (fasta)

Gene Model

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

AlphaFold

Q8VFQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000054748
AA Change: I219T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058678
Gene: ENSMUSG00000045202
AA Change: I219T

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 damaging
Transcript: ENSMUST00000214770
AA Change: I219T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215168

Predicted Effect

probably damaging
Transcript: ENSMUST00000216051
AA Change: I219T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216478

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	C	T	8: 41,208,953 (GRCm39)	P740S	probably benign	Het
Arfgef1	G	T	1: 10,283,419 (GRCm39)	H163Q	probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atp6v1h	T	A	1: 5,187,699 (GRCm39)	D222E	probably damaging	Het
Auts2	T	C	5: 131,490,155 (GRCm39)	T165A		Het
BC034090	A	G	1: 155,099,049 (GRCm39)	S579P	probably benign	Het
Bpifb9b	T	A	2: 154,160,766 (GRCm39)	S546T	probably benign	Het
C4b	C	T	17: 34,952,159 (GRCm39)	V1229I	probably benign	Het
Cadps2	T	C	6: 23,344,262 (GRCm39)	D895G	probably benign	Het
Cby2	A	G	14: 75,820,838 (GRCm39)	S296P	probably damaging	Het
Cep112	T	C	11: 108,328,076 (GRCm39)	S51P	probably damaging	Het
Cep164	T	C	9: 45,717,708 (GRCm39)	H545R	unknown	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Crlf1	T	A	8: 70,951,316 (GRCm39)	I65K	probably benign	Het
Crybg3	T	C	16: 59,421,256 (GRCm39)	M1V	probably null	Het
Cyb5d1	T	A	11: 69,285,830 (GRCm39)	I69L	probably damaging	Het
D430041D05Rik	T	C	2: 104,088,337 (GRCm39)	D213G	probably benign	Het
Dennd5a	C	G	7: 109,498,930 (GRCm39)		probably null	Het
Dennd5a	T	A	7: 109,498,942 (GRCm39)	M998L	probably benign	Het
E2f1	T	A	2: 154,402,755 (GRCm39)	E382D	probably benign	Het
Enpep	T	A	3: 129,102,772 (GRCm39)	T395S	probably benign	Het
Gm20939	A	G	17: 95,182,977 (GRCm39)	E71G	probably damaging	Het
Hs1bp3	T	A	12: 8,386,273 (GRCm39)	V225E	probably benign	Het
Icam5	T	C	9: 20,943,427 (GRCm39)	M1T	probably null	Het
Ifi205	T	C	1: 173,844,997 (GRCm39)	I262V	probably benign	Het
Iqce	T	C	5: 140,677,380 (GRCm39)	Y147C	probably damaging	Het
Kcnh2	C	T	5: 24,538,003 (GRCm39)	G120E	probably damaging	Het
Kif3c	A	G	12: 3,417,505 (GRCm39)	T509A	probably benign	Het
Napepld	A	T	5: 21,875,490 (GRCm39)	N351K	probably benign	Het
Ndufaf3	C	A	9: 108,443,357 (GRCm39)		probably null	Het
Nlrp9b	C	T	7: 19,757,336 (GRCm39)	T191I	probably damaging	Het
Oog2	T	C	4: 143,921,789 (GRCm39)	L233P	probably damaging	Het
Or1a1b	T	A	11: 74,097,289 (GRCm39)	Y251F	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or2w1	T	A	13: 21,317,131 (GRCm39)	F62Y	possibly damaging	Het
Preb	A	G	5: 31,112,995 (GRCm39)	F416L	probably benign	Het
Prickle2	C	T	6: 92,397,243 (GRCm39)	V217I	probably benign	Het
Prss45	T	A	9: 110,668,278 (GRCm39)	I157N	probably damaging	Het
Ranbp17	T	C	11: 33,429,232 (GRCm39)	T338A	probably benign	Het
Snd1	T	C	6: 28,745,206 (GRCm39)	F517S	probably damaging	Het
Srpk2	A	T	5: 23,719,671 (GRCm39)	F578I	probably damaging	Het
Stx2	A	T	5: 129,076,601 (GRCm39)	D27E	probably benign	Het
Tgfbrap1	A	G	1: 43,093,695 (GRCm39)	I599T	probably benign	Het
Trim25	G	T	11: 88,900,167 (GRCm39)	E305*	probably null	Het
Ttll7	T	A	3: 146,673,768 (GRCm39)	I821N	probably benign	Het
Wdfy3	A	G	5: 102,089,358 (GRCm39)	L612P	probably damaging	Het
Zcchc9	T	A	13: 91,954,186 (GRCm39)	D23V		Het
Zfp141	C	A	7: 42,124,814 (GRCm39)	E553*	probably null	Het
Zfyve26	T	C	12: 79,315,231 (GRCm39)	D1415G	possibly damaging	Het
Zpbp2	C	T	11: 98,442,141 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- AGGAATCTCATGGCTCAGTGG -3'
(R):5'- ATTAAGGGTCGGGGTCATAAC -3'

Sequencing Primer
(F):5'- CAGTGGAATAGGAAATGCTCTCATCC -3'
(R):5'- TCGGGGTCATAACAGTGTAAAAG -3'

Posted On

2022-04-18