Mutagenetix > Incidental Mutation

Incidental Mutation 'R9525:Or8k20'

719127

Institutional Source

Beutler Lab

Gene Symbol

Or8k20

Ensembl Gene

ENSMUSG00000075193

Gene Name

olfactory receptor family 8 subfamily K member 20

Synonyms

Olfr1051, GA_x6K02T2Q125-47756192-47755266, MOR187-5

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R9525 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86105903-86106829 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86106484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 116 (S116P)

Ref Sequence

ENSEMBL: ENSMUSP00000150061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099898] [ENSMUST00000216432] [ENSMUST00000217245] [ENSMUST00000217294]

AlphaFold

Q7TR76

Predicted Effect

probably benign
Transcript: ENSMUST00000099898
AA Change: S116P

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097482
Gene: ENSMUSG00000075193
AA Change: S116P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.8e-53	PFAM
Pfam:7tm_1	41	290	2.7e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216432
AA Change: S116P

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000217245
AA Change: S116P

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000217294
AA Change: S116P

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	A	4: 144,282,000 (GRCm39)	D264V	possibly damaging	Het
Adgrv1	C	T	13: 81,593,453 (GRCm39)	G4178E	possibly damaging	Het
Alpk2	A	G	18: 65,399,288 (GRCm39)	Y2097H	probably damaging	Het
Anapc2	T	C	2: 25,166,339 (GRCm39)	S369P	probably damaging	Het
Atr	C	T	9: 95,792,610 (GRCm39)	A1644V	possibly damaging	Het
Camsap1	G	A	2: 25,843,962 (GRCm39)	H230Y	probably benign	Het
Cbx7	A	C	15: 79,814,797 (GRCm39)	W35G	probably damaging	Het
Cc2d2b	T	C	19: 40,773,430 (GRCm39)	Y498H	probably damaging	Het
Ccdc162	T	A	10: 41,559,222 (GRCm39)	R126W	probably damaging	Het
Cd274	T	A	19: 29,359,879 (GRCm39)	L228Q	probably benign	Het
Cfap57	A	T	4: 118,433,778 (GRCm39)	I1000N	probably damaging	Het
Cfhr4	G	T	1: 139,702,250 (GRCm39)	T78K	probably damaging	Het
Chadl	C	A	15: 81,578,220 (GRCm39)	G470C	probably damaging	Het
Clasp2	T	C	9: 113,740,677 (GRCm39)	L1217P	probably damaging	Het
Crnkl1	A	G	2: 145,770,198 (GRCm39)	V215A	probably benign	Het
Dbx2	G	T	15: 95,552,304 (GRCm39)	H114N	probably benign	Het
Ddb2	T	G	2: 91,065,180 (GRCm39)	T82P	probably benign	Het
Emc8	T	C	8: 121,394,656 (GRCm39)	Y21C	probably damaging	Het
Epha1	A	T	6: 42,344,758 (GRCm39)	M66K	probably damaging	Het
Fan1	A	C	7: 64,022,007 (GRCm39)		probably null	Het
Fgd2	T	A	17: 29,583,955 (GRCm39)	L123Q	probably damaging	Het
Flnb	T	A	14: 7,905,481 (GRCm38)	V1077E	probably damaging	Het
Fnbp1l	A	T	3: 122,352,703 (GRCm39)	M251K	probably damaging	Het
Gal3st2c	T	A	1: 93,935,928 (GRCm39)	F93L	probably damaging	Het
Gdf2	T	C	14: 33,667,564 (GRCm39)	*429Q	probably null	Het
Gdpd5	A	G	7: 99,104,156 (GRCm39)	T455A	possibly damaging	Het
Gm8356	G	T	14: 17,691,339 (GRCm39)	Q109K		Het
Gpr20	A	T	15: 73,567,681 (GRCm39)	V236E	probably benign	Het
Gpr39	T	C	1: 125,800,323 (GRCm39)	V358A	probably damaging	Het
Grin1	T	C	2: 25,187,472 (GRCm39)	N613D	probably damaging	Het
H2bc15	G	T	13: 21,938,305 (GRCm39)	A5S	unknown	Het
Hepacam2	A	G	6: 3,476,046 (GRCm39)	V293A	probably benign	Het
Igf1r	G	A	7: 67,864,682 (GRCm39)	R1160Q	probably damaging	Het
Iqcd	T	C	5: 120,738,217 (GRCm39)	Y12H	probably benign	Het
Itih1	T	C	14: 30,658,711 (GRCm39)	S393G	probably benign	Het
Klhl33	T	C	14: 51,128,929 (GRCm39)	M507V	probably null	Het
Mast4	G	T	13: 102,872,944 (GRCm39)	H2141Q	probably benign	Het
Mkrn2	T	A	6: 115,587,486 (GRCm39)	D54E	probably damaging	Het
Mrm3	A	G	11: 76,141,104 (GRCm39)	T371A	possibly damaging	Het
Msantd5f3	G	A	4: 73,573,061 (GRCm39)	S100N	probably benign	Het
Mylk2	T	A	2: 152,759,552 (GRCm39)	M414K	probably damaging	Het
Nlrp4b	A	G	7: 10,448,748 (GRCm39)	E317G	probably damaging	Het
Or51b6b	A	T	7: 103,310,142 (GRCm39)	I105N	probably damaging	Het
Or51i2	A	G	7: 103,689,820 (GRCm39)	I272M	possibly damaging	Het
Pcdhb18	T	A	18: 37,624,887 (GRCm39)	V739E	probably damaging	Het
Pkhd1l1	A	T	15: 44,448,322 (GRCm39)	T3834S	possibly damaging	Het
Pkp3	A	G	7: 140,668,310 (GRCm39)	D546G	probably damaging	Het
Pot1a	A	T	6: 25,745,916 (GRCm39)	M595K	probably benign	Het
Pus7l	A	G	15: 94,438,764 (GRCm39)	I27T	probably damaging	Het
Rbp3	A	G	14: 33,676,402 (GRCm39)	I117V	probably benign	Het
Rnf19a	A	T	15: 36,247,375 (GRCm39)	L454H	probably damaging	Het
Rps6kb1	C	A	11: 86,410,746 (GRCm39)	K167N	possibly damaging	Het
Saxo1	A	T	4: 86,363,186 (GRCm39)	Y432*	probably null	Het
Setdb2	A	T	14: 59,646,841 (GRCm39)	V558E	probably benign	Het
Spmap2l	A	G	5: 77,195,138 (GRCm39)	N104S	probably benign	Het
Tbck	T	C	3: 132,456,966 (GRCm39)	F627L	probably damaging	Het
Tbpl2	T	G	2: 23,986,547 (GRCm39)	M1L	probably benign	Het
Timp2	A	C	11: 118,194,678 (GRCm39)	D170E	probably benign	Het
Tomm40	A	G	7: 19,436,812 (GRCm39)	Y303H	probably damaging	Het
Trgv5	T	C	13: 19,376,885 (GRCm39)	C111R	probably damaging	Het
Trhr	T	C	15: 44,060,873 (GRCm39)	I131T	possibly damaging	Het
Vmn1r159	A	G	7: 22,542,417 (GRCm39)	V205A	probably damaging	Het
Vmn2r25	G	T	6: 123,800,164 (GRCm39)	T726K	probably damaging	Het
Wwox	T	A	8: 115,433,105 (GRCm39)	V257E	probably benign	Het
Xxylt1	A	G	16: 30,869,593 (GRCm39)	I169T	probably benign	Het
Zfp1007	A	T	5: 109,824,846 (GRCm39)	N201K		Het
Zfp457	T	C	13: 67,441,492 (GRCm39)	Y361C	probably damaging	Het

Other mutations in Or8k20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01578:Or8k20	APN	2	86,106,085 (GRCm39)	missense	probably damaging	0.99
IGL02263:Or8k20	APN	2	86,106,546 (GRCm39)	missense	probably benign	0.01
IGL03143:Or8k20	APN	2	86,106,580 (GRCm39)	missense	probably benign	0.03
R1182:Or8k20	UTSW	2	86,106,612 (GRCm39)	missense	probably damaging	0.98
R1475:Or8k20	UTSW	2	86,105,905 (GRCm39)	makesense	probably null
R1712:Or8k20	UTSW	2	86,106,337 (GRCm39)	missense	probably damaging	0.97
R1903:Or8k20	UTSW	2	86,106,190 (GRCm39)	missense	probably benign	0.00
R2097:Or8k20	UTSW	2	86,106,383 (GRCm39)	nonsense	probably null
R4680:Or8k20	UTSW	2	86,106,517 (GRCm39)	missense	possibly damaging	0.88
R4879:Or8k20	UTSW	2	86,106,107 (GRCm39)	nonsense	probably null
R5094:Or8k20	UTSW	2	86,106,384 (GRCm39)	missense	probably damaging	1.00
R6448:Or8k20	UTSW	2	86,106,691 (GRCm39)	missense	probably benign	0.07
R8250:Or8k20	UTSW	2	86,106,498 (GRCm39)	missense	probably damaging	1.00
R9761:Or8k20	UTSW	2	86,106,150 (GRCm39)	missense	probably benign	0.06
X0064:Or8k20	UTSW	2	86,106,462 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTTATAACATTAGCACCACAG -3'
(R):5'- AACCTCGGCATGATCATTTTGAC -3'

Sequencing Primer
(F):5'- TAGCACCACAGAAGCTTAATGTG -3'
(R):5'- TTGACCAAACTGGACTCTCG -3'

Posted On

2022-07-18