Mutagenetix > Incidental Mutation

Incidental Mutation 'R9525:Olfr1051'

719127

Institutional Source

Beutler Lab

Gene Symbol

Olfr1051

Ensembl Gene

ENSMUSG00000075193

Gene Name

olfactory receptor 1051

Synonyms

GA_x6K02T2Q125-47756192-47755266, MOR187-5

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R9525 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86273814-86279088 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86276140 bp (GRCm38)

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
5430403G16Rik	A	T	5: 109,676,980	N201K		Het
Adgrv1	C	T	13: 81,445,334	G4178E	possibly damaging	Het
Alpk2	A	G	18: 65,266,217	Y2097H	probably damaging	Het
Anapc2	T	C	2: 25,276,327	S369P	probably damaging	Het
Atr	C	T	9: 95,910,557	A1644V	possibly damaging	Het
Camsap1	G	A	2: 25,953,950	H230Y	probably benign	Het
Cbx7	A	C	15: 79,930,596	W35G	probably damaging	Het
Cc2d2b	T	C	19: 40,784,986	Y498H	probably damaging	Het
Ccdc162	T	A	10: 41,683,226	R126W	probably damaging	Het
Cd274	T	A	19: 29,382,479	L228Q	probably benign	Het
Cfap57	A	T	4: 118,576,581	I1000N	probably damaging	Het
Chadl	C	A	15: 81,694,019	G470C	probably damaging	Het
Clasp2	T	C	9: 113,911,609	L1217P	probably damaging	Het
Crnkl1	A	G	2: 145,928,278	V215A	probably benign	Het
Dbx2	G	T	15: 95,654,423	H114N	probably benign	Het
Ddb2	T	G	2: 91,234,835	T82P	probably benign	Het
Emc8	T	C	8: 120,667,917	Y21C	probably damaging	Het
Epha1	A	T	6: 42,367,824	M66K	probably damaging	Het
Fan1	A	C	7: 64,372,259		probably null	Het
Fgd2	T	A	17: 29,364,981	L123Q	probably damaging	Het
Flnb	T	A	14: 7,905,481	V1077E	probably damaging	Het
Fnbp1l	A	T	3: 122,559,054	M251K	probably damaging	Het
Gal3st2c	T	A	1: 94,008,206	F93L	probably damaging	Het
Gdf2	T	C	14: 33,945,607	*429Q	probably null	Het
Gdpd5	A	G	7: 99,454,949	T455A	possibly damaging	Het
Gm11238	G	A	4: 73,654,824	S100N	probably benign	Het
Gm13124	T	A	4: 144,555,430	D264V	possibly damaging	Het
Gm4788	G	T	1: 139,774,512	T78K	probably damaging	Het
Gm8356	G	T	14: 6,535,192	Q109K		Het
Gpr20	A	T	15: 73,695,832	V236E	probably benign	Het
Gpr39	T	C	1: 125,872,586	V358A	probably damaging	Het
Grin1	T	C	2: 25,297,460	N613D	probably damaging	Het
Hepacam2	A	G	6: 3,476,046	V293A	probably benign	Het
Hist1h2bn	G	T	13: 21,754,135	A5S	unknown	Het
Igf1r	G	A	7: 68,214,934	R1160Q	probably damaging	Het
Iqcd	T	C	5: 120,600,152	Y12H	probably benign	Het
Itih1	T	C	14: 30,936,754	S393G	probably benign	Het
Klhl33	T	C	14: 50,891,472	M507V	probably null	Het
Mast4	G	T	13: 102,736,436	H2141Q	probably benign	Het
Mkrn2	T	A	6: 115,610,525	D54E	probably damaging	Het
Mrm3	A	G	11: 76,250,278	T371A	possibly damaging	Het
Mylk2	T	A	2: 152,917,632	M414K	probably damaging	Het
Nlrp4b	A	G	7: 10,714,821	E317G	probably damaging	Het
Olfr623	A	T	7: 103,660,935	I105N	probably damaging	Het
Olfr641	A	G	7: 104,040,613	I272M	possibly damaging	Het
Pcdhb18	T	A	18: 37,491,834	V739E	probably damaging	Het
Pkhd1l1	A	T	15: 44,584,926	T3834S	possibly damaging	Het
Pkp3	A	G	7: 141,088,397	D546G	probably damaging	Het
Pot1a	A	T	6: 25,745,917	M595K	probably benign	Het
Pus7l	A	G	15: 94,540,883	I27T	probably damaging	Het
Rbp3	A	G	14: 33,954,445	I117V	probably benign	Het
Rnf19a	A	T	15: 36,247,229	L454H	probably damaging	Het
Rps6kb1	C	A	11: 86,519,920	K167N	possibly damaging	Het
Saxo1	A	T	4: 86,444,949	Y432*	probably null	Het
Setdb2	A	T	14: 59,409,392	V558E	probably benign	Het
Tbck	T	C	3: 132,751,205	F627L	probably damaging	Het
Tbpl2	T	G	2: 24,096,535	M1L	probably benign	Het
Tcrg-V5	T	C	13: 19,192,715	C111R	probably damaging	Het
Thegl	A	G	5: 77,047,291	N104S	probably benign	Het
Timp2	A	C	11: 118,303,852	D170E	probably benign	Het
Tomm40	A	G	7: 19,702,887	Y303H	probably damaging	Het
Trhr	T	C	15: 44,197,477	I131T	possibly damaging	Het
Vmn1r159	A	G	7: 22,842,992	V205A	probably damaging	Het
Vmn2r25	G	T	6: 123,823,205	T726K	probably damaging	Het
Wwox	T	A	8: 114,706,365	V257E	probably benign	Het
Xxylt1	A	G	16: 31,050,775	I169T	probably benign	Het
Zfp457	T	C	13: 67,293,428	Y361C	probably damaging	Het

Other mutations in Olfr1051

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01578:Olfr1051	APN	2	86275741	missense	probably damaging	0.99
IGL02263:Olfr1051	APN	2	86276202	missense	probably benign	0.01
IGL03143:Olfr1051	APN	2	86276236	missense	probably benign	0.03
R1182:Olfr1051	UTSW	2	86276268	missense	probably damaging	0.98
R1475:Olfr1051	UTSW	2	86275561	makesense	probably null
R1712:Olfr1051	UTSW	2	86275993	missense	probably damaging	0.97
R1903:Olfr1051	UTSW	2	86275846	missense	probably benign	0.00
R2097:Olfr1051	UTSW	2	86276039	nonsense	probably null
R4680:Olfr1051	UTSW	2	86276173	missense	possibly damaging	0.88
R4879:Olfr1051	UTSW	2	86275763	nonsense	probably null
R5094:Olfr1051	UTSW	2	86276040	missense	probably damaging	1.00
R6448:Olfr1051	UTSW	2	86276347	missense	probably benign	0.07
R8250:Olfr1051	UTSW	2	86276154	missense	probably damaging	1.00
R9761:Olfr1051	UTSW	2	86275806	missense	probably benign	0.06
X0064:Olfr1051	UTSW	2	86276118	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