Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00094:Or8g20'

1320

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or8g20

Ensembl Gene

ENSMUSG00000062649

Gene Name

olfactory receptor family 8 subfamily G member 20

Synonyms

GA_x6K02T2PVTD-33181773-33180838, Olfr44, IB3, MOR171-5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL00094

Quality Score

Status

Chromosome

Chromosomal Location

39395500-39405284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39395944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 202 (I202V)

Ref Sequence

ENSEMBL: ENSMUSP00000076935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077757] [ENSMUST00000215065] [ENSMUST00000216316]

AlphaFold

Q9EQB8

Predicted Effect

probably benign
Transcript: ENSMUST00000077757
AA Change: I202V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000076935
Gene: ENSMUSG00000062649
AA Change: I202V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	4.1e-50	PFAM
Pfam:7tm_1	44	293	1.7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215065
AA Change: I199V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000216316
AA Change: I199V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,591,254 (GRCm39)	N547K	probably benign	Het
Abca13	A	G	11: 9,247,443 (GRCm39)	T2397A	probably benign	Het
Abcc1	A	G	16: 14,288,398 (GRCm39)	N1341S	probably null	Het
Adcy9	T	A	16: 4,122,446 (GRCm39)	I535L	probably benign	Het
Akap6	A	G	12: 53,187,763 (GRCm39)	S1726G	possibly damaging	Het
Ap3d1	T	C	10: 80,577,813 (GRCm39)	M5V	probably benign	Het
Ash1l	T	A	3: 88,889,019 (GRCm39)	N299K	probably benign	Het
B3gnt2	C	T	11: 22,786,151 (GRCm39)	V346I	probably benign	Het
Ceacam14	G	A	7: 17,548,062 (GRCm39)	V51I	probably damaging	Het
Cfap69	T	C	5: 5,634,682 (GRCm39)	D812G	probably damaging	Het
Cfap97d1	A	G	11: 101,881,646 (GRCm39)	E114G	possibly damaging	Het
Chrna9	T	C	5: 66,126,600 (GRCm39)	V118A	probably benign	Het
Cpsf7	A	G	19: 10,517,151 (GRCm39)	R418G	probably damaging	Het
Csnk1g3	T	C	18: 54,052,075 (GRCm39)	Y215H	probably damaging	Het
Dcaf5	A	C	12: 80,386,097 (GRCm39)	N676K	probably benign	Het
Dld	A	T	12: 31,385,576 (GRCm39)	M255K	probably benign	Het
Esr2	A	T	12: 76,180,670 (GRCm39)	L417H	probably damaging	Het
Fsip2	T	A	2: 82,820,730 (GRCm39)	S5488T	probably benign	Het
Gatb	A	T	3: 85,509,227 (GRCm39)	I130L	possibly damaging	Het
Gbp9	T	C	5: 105,229,130 (GRCm39)	K506E	probably benign	Het
Hkdc1	T	C	10: 62,229,568 (GRCm39)	N703S	probably damaging	Het
Itgb3	T	A	11: 104,524,410 (GRCm39)	V182E	probably damaging	Het
Itih4	A	T	14: 30,617,426 (GRCm39)	Y582F	probably damaging	Het
Lancl2	T	A	6: 57,701,522 (GRCm39)		probably benign	Het
Lgals3	A	G	14: 47,622,175 (GRCm39)	K197R	probably benign	Het
Lipe	T	C	7: 25,082,977 (GRCm39)	T767A	probably damaging	Het
Lrp2	T	A	2: 69,338,123 (GRCm39)	D1219V	probably damaging	Het
Lrriq3	T	A	3: 154,806,698 (GRCm39)	C116S	probably benign	Het
Mcm5	T	G	8: 75,851,573 (GRCm39)		probably null	Het
Mtpn	G	T	6: 35,499,711 (GRCm39)	T31K	probably damaging	Het
Mycbp2	A	T	14: 103,460,486 (GRCm39)	Y1494N	probably damaging	Het
Nbeal1	G	T	1: 60,274,350 (GRCm39)	E498*	probably null	Het
Nos1	T	G	5: 118,048,165 (GRCm39)	S657A	probably damaging	Het
Nr3c1	A	T	18: 39,561,661 (GRCm39)		probably null	Het
Or12e7	T	A	2: 87,288,271 (GRCm39)	V254E	probably damaging	Het
Or13a17	A	T	7: 140,271,349 (GRCm39)	H177L	probably damaging	Het
Or4c127	T	A	2: 89,833,365 (GRCm39)	I205N	possibly damaging	Het
Or7g32	T	A	9: 19,408,155 (GRCm39)	I37N	probably damaging	Het
Or8s8	T	G	15: 98,354,299 (GRCm39)	V36G	possibly damaging	Het
Or9i1	A	T	19: 13,839,150 (GRCm39)		probably benign	Het
Osbp2	T	G	11: 3,661,848 (GRCm39)	S735R	probably benign	Het
Otop3	A	T	11: 115,235,279 (GRCm39)	T304S	probably benign	Het
Pcdhac2	A	T	18: 37,278,128 (GRCm39)	L369F	probably damaging	Het
Pick1	T	C	15: 79,131,457 (GRCm39)		probably benign	Het
Prlhr	A	T	19: 60,456,119 (GRCm39)	V149E	probably damaging	Het
Prss12	G	A	3: 123,280,598 (GRCm39)		probably benign	Het
Rab19	A	T	6: 39,365,132 (GRCm39)		probably benign	Het
Ralgapb	T	C	2: 158,262,776 (GRCm39)	W5R	probably damaging	Het
Rfx4	T	A	10: 84,676,063 (GRCm39)	L44Q	probably damaging	Het
Scube2	T	C	7: 109,407,661 (GRCm39)	T760A	probably damaging	Het
Shcbp1	A	C	8: 4,804,258 (GRCm39)	Y145*	probably null	Het
Snx31	T	A	15: 36,545,761 (GRCm39)		probably null	Het
Spopl	A	T	2: 23,427,643 (GRCm39)	V163E	possibly damaging	Het
Sqor	T	C	2: 122,629,463 (GRCm39)	I107T	probably damaging	Het
Tcte1	T	C	17: 45,845,854 (GRCm39)	F153L	probably damaging	Het
Tnfrsf11b	T	A	15: 54,123,238 (GRCm39)	H121L	probably damaging	Het
Tnip1	G	T	11: 54,831,643 (GRCm39)	Y10*	probably null	Het
Tnxb	G	T	17: 34,904,603 (GRCm39)	G1123C	probably damaging	Het
Wdr62	T	C	7: 29,942,948 (GRCm39)	E515G	probably benign	Het
Zfand1	A	T	3: 10,413,590 (GRCm39)	D32E	probably null	Het
Zfp112	A	C	7: 23,821,668 (GRCm39)	T3P	probably damaging	Het

Other mutations in Or8g20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02239:Or8g20	APN	9	39,395,857 (GRCm39)	missense	probably damaging	1.00
IGL02305:Or8g20	APN	9	39,396,333 (GRCm39)	missense	probably damaging	0.97
IGL02353:Or8g20	APN	9	39,396,444 (GRCm39)	missense	probably benign
IGL02360:Or8g20	APN	9	39,396,444 (GRCm39)	missense	probably benign
R0212:Or8g20	UTSW	9	39,396,384 (GRCm39)	missense	probably damaging	1.00
R0600:Or8g20	UTSW	9	39,396,284 (GRCm39)	missense	probably benign	0.34
R1329:Or8g20	UTSW	9	39,395,740 (GRCm39)	missense	probably damaging	0.97
R1348:Or8g20	UTSW	9	39,396,532 (GRCm39)	missense	probably benign
R1594:Or8g20	UTSW	9	39,396,042 (GRCm39)	missense	probably benign	0.03
R5017:Or8g20	UTSW	9	39,396,051 (GRCm39)	missense	possibly damaging	0.90
R5141:Or8g20	UTSW	9	39,395,827 (GRCm39)	missense	probably damaging	1.00
R5244:Or8g20	UTSW	9	39,395,808 (GRCm39)	missense	probably damaging	1.00
R5524:Or8g20	UTSW	9	39,396,283 (GRCm39)	missense	probably damaging	0.97
R5630:Or8g20	UTSW	9	39,396,247 (GRCm39)	missense	probably benign	0.00
R5860:Or8g20	UTSW	9	39,395,767 (GRCm39)	missense	probably benign	0.07
R6444:Or8g20	UTSW	9	39,395,614 (GRCm39)	missense	probably benign	0.04
R6649:Or8g20	UTSW	9	39,396,048 (GRCm39)	missense	probably benign	0.02
R6653:Or8g20	UTSW	9	39,396,048 (GRCm39)	missense	probably benign	0.02
R7115:Or8g20	UTSW	9	39,395,944 (GRCm39)	missense	probably benign	0.02
R7595:Or8g20	UTSW	9	39,395,611 (GRCm39)	missense	probably benign	0.05
R7791:Or8g20	UTSW	9	39,396,177 (GRCm39)	missense	probably damaging	1.00
R8054:Or8g20	UTSW	9	39,396,033 (GRCm39)	missense	probably damaging	1.00
R9176:Or8g20	UTSW	9	39,396,247 (GRCm39)	missense	probably benign	0.00
R9640:Or8g20	UTSW	9	39,396,396 (GRCm39)	missense	probably damaging	1.00

Posted On

2011-07-12