Mutagenetix > Incidental Mutation

Incidental Mutation 'R5860:Or8g20'

453850

Institutional Source

Beutler Lab

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

MMRRC Submission

044072-MU

Accession Numbers

Essential gene?

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

Stock #

R5860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39395500-39405284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39395767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 261 (M261L)

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: M261L

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000076935
Gene: ENSMUSG00000062649
AA Change: M261L

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: M258L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000216316
AA Change: M258L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.8%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568A12Rik	A	G	1: 34,524,661 (GRCm39)		noncoding transcript	Het
A2ml1	T	C	6: 128,518,024 (GRCm39)	T1421A	probably benign	Het
Actr8	T	A	14: 29,708,242 (GRCm39)	Y150*	probably null	Het
Adamts1	A	G	16: 85,595,432 (GRCm39)	C249R	probably damaging	Het
Adgre1	T	A	17: 57,752,034 (GRCm39)	I594N	probably damaging	Het
Atf6	A	T	1: 170,669,344 (GRCm39)	L119H	probably damaging	Het
Atf6	G	A	1: 170,669,345 (GRCm39)	L119F	possibly damaging	Het
B3gat2	G	A	1: 23,854,400 (GRCm39)	W33*	probably null	Het
Bach2	A	G	4: 32,580,268 (GRCm39)	D831G	probably damaging	Het
Ccnk	A	T	12: 108,153,466 (GRCm39)	I76F	probably damaging	Het
Cdyl	A	C	13: 36,042,066 (GRCm39)	K368T	possibly damaging	Het
Chi3l1	A	G	1: 134,112,909 (GRCm39)	T114A	probably benign	Het
Cnppd1	A	G	1: 75,113,131 (GRCm39)	V379A	probably benign	Het
Col11a2	C	A	17: 34,283,159 (GRCm39)		probably benign	Het
Creb3l1	T	C	2: 91,854,399 (GRCm39)	S18G	probably benign	Het
Crybg3	A	C	16: 59,385,632 (GRCm39)	D197E	probably damaging	Het
Cryga	T	C	1: 65,142,527 (GRCm39)		probably benign	Het
Cthrc1	T	C	15: 38,950,080 (GRCm39)	C146R	probably damaging	Het
Cyp2c39	A	T	19: 39,525,270 (GRCm39)	D191V	probably damaging	Het
Dchs1	C	T	7: 105,421,242 (GRCm39)	A393T	probably damaging	Het
Dhx30	G	A	9: 109,913,645 (GRCm39)	T1126I	probably damaging	Het
Dock2	C	T	11: 34,206,562 (GRCm39)	G1345R	probably damaging	Het
Dsc1	T	C	18: 20,228,081 (GRCm39)	E425G	probably damaging	Het
Dynlt2b	A	G	16: 32,247,614 (GRCm39)	Y143C	probably damaging	Het
Exosc8	C	T	3: 54,642,463 (GRCm39)		probably benign	Het
Fat1	C	T	8: 45,504,166 (GRCm39)	A4553V	probably benign	Het
Flnb	T	A	14: 7,931,135 (GRCm38)	L2119Q	probably damaging	Het
Fnbp4	T	A	2: 90,587,826 (GRCm39)	D401E	probably benign	Het
Glyctk	T	C	9: 106,032,906 (GRCm39)	E369G	possibly damaging	Het
Gm14149	C	A	2: 151,066,225 (GRCm39)		noncoding transcript	Het
Golga4	T	C	9: 118,387,174 (GRCm39)	L1432P	probably damaging	Het
Gtpbp4	A	T	13: 9,023,196 (GRCm39)	S623T	probably benign	Het
Insc	A	C	7: 114,390,383 (GRCm39)	S85R	probably damaging	Het
Lgr4	G	A	2: 109,821,496 (GRCm39)	R126H	probably damaging	Het
M1ap	T	A	6: 82,980,795 (GRCm39)	L227Q	probably damaging	Het
Marchf7	T	C	2: 60,067,187 (GRCm39)	I569T	probably damaging	Het
Mbd1	C	A	18: 74,409,768 (GRCm39)	C339*	probably null	Het
Moxd2	T	A	6: 40,857,341 (GRCm39)	Y473F	probably damaging	Het
Mrgpra6	T	C	7: 46,839,099 (GRCm39)	H2R	probably benign	Het
Mtus1	T	G	8: 41,529,303 (GRCm39)	L742F	probably damaging	Het
Nek11	A	G	9: 105,270,160 (GRCm39)	Y21H	probably benign	Het
Notch4	G	T	17: 34,801,392 (GRCm39)	C1080F	probably damaging	Het
Nsd3	C	A	8: 26,156,107 (GRCm39)	P558Q	probably damaging	Het
Oas1e	A	T	5: 120,930,015 (GRCm39)	S168T	probably benign	Het
Ogfr	T	C	2: 180,234,285 (GRCm39)	S119P	probably damaging	Het
Or2y15	A	G	11: 49,350,563 (GRCm39)	D19G	probably damaging	Het
Pde4dip	A	G	3: 97,631,504 (GRCm39)	I1135T	possibly damaging	Het
Prex1	G	A	2: 166,486,604 (GRCm39)		probably benign	Het
Ptprf	T	C	4: 118,068,486 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,875,859 (GRCm39)	V359A	probably damaging	Het
Ric1	A	G	19: 29,577,245 (GRCm39)	S1050G	possibly damaging	Het
Rnft2	A	G	5: 118,366,868 (GRCm39)	I290T	possibly damaging	Het
Senp7	C	A	16: 55,975,722 (GRCm39)	A476E	possibly damaging	Het
Serpinh1	G	A	7: 98,995,571 (GRCm39)	S337L	probably damaging	Het
Slc5a12	C	A	2: 110,427,969 (GRCm39)	A8D	probably benign	Het
Smg5	T	A	3: 88,250,214 (GRCm39)	C109S	probably damaging	Het
Speer4b	T	C	5: 27,705,226 (GRCm39)	H49R	possibly damaging	Het
Tas2r109	T	C	6: 132,957,664 (GRCm39)	I89V	probably benign	Het
Tet1	A	G	10: 62,648,399 (GRCm39)		probably null	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Tpgs1	G	A	10: 79,505,545 (GRCm39)	G101D	probably damaging	Het
Trim13	T	G	14: 61,842,188 (GRCm39)	S68R	probably damaging	Het
Vwf	A	G	6: 125,620,053 (GRCm39)	N1577S		Het
Vwf	G	T	6: 125,656,228 (GRCm39)		probably benign	Het
Xpr1	T	C	1: 155,207,868 (GRCm39)		probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zftraf1	A	T	15: 76,532,391 (GRCm39)	I239N	probably damaging	Het
Zftraf1	T	C	15: 76,540,615 (GRCm39)	Y101C	probably damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	Het

Other mutations in Or8g20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Or8g20	APN	9	39,395,944 (GRCm39)	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- AGCATTGTTGACTCTGTGAAAC -3'
(R):5'- TTTGGGACACTGAACATCTTTG -3'

Sequencing Primer
(F):5'- TGTTGACTCTGTGAAACAATATGG -3'
(R):5'- GGACACTGAACATCTTTGTCCCAATC -3'

Posted On

2017-02-10