Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Olfr1055'

730224

Institutional Source

Beutler Lab

Gene Symbol

Olfr1055

Ensembl Gene

ENSMUSG00000075189

Gene Name

olfactory receptor 1055

Synonyms

MOR186-1, GA_x6K02T2Q125-47819205-47818258

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86346624-86350284 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86347239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 176 (H176Y)

Ref Sequence

ENSEMBL: ENSMUSP00000097479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099894] [ENSMUST00000188023] [ENSMUST00000213564]

AlphaFold

A2AVX9

Predicted Effect

probably benign
Transcript: ENSMUST00000099894
AA Change: H176Y

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097479
Gene: ENSMUSG00000075189
AA Change: H176Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	7.3e-49	PFAM
Pfam:7tm_1	41	290	1.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188023
AA Change: H176Y

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140847
Gene: ENSMUSG00000075189
AA Change: H176Y

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	290	5.7e-30	PFAM
Pfam:7tm_4	139	283	9.2e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213564
AA Change: H176Y

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,715,784	M20L	probably benign	Het
9430007A20Rik	C	T	4: 144,528,784	A258V	probably benign	Het
Abca8b	T	A	11: 109,942,337	D1241V	probably benign	Het
Adam20	G	A	8: 40,795,453	R200H	probably benign	Het
Adcy10	T	C	1: 165,513,112	F229L	probably damaging	Het
Adsl	A	T	15: 80,955,639	N126I	probably benign	Het
Ahnak	AGATCTC	A	19: 9,007,028		probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 9,007,029		probably benign	Het
Aktip	G	A	8: 91,129,727	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,980,973	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,313,533	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,423,613	L583F	probably damaging	Het
Arhgef40	T	C	14: 51,988,958	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,591,441	S179G	probably benign	Het
Bok	T	C	1: 93,686,507	S21P	probably damaging	Het
C130060K24Rik	A	G	6: 65,456,140	I315V	probably benign	Het
Ccdc136	A	G	6: 29,417,442	E754G	probably benign	Het
Cers3	A	G	7: 66,773,630	K108E	probably benign	Het
Cmya5	T	C	13: 93,065,373		probably null	Het
Col19a1	T	C	1: 24,328,067	E478G	possibly damaging	Het
Colec10	T	A	15: 54,459,784	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,955,829	I514F	probably damaging	Het
Cux1	C	T	5: 136,309,819	E664K	probably benign	Het
Dars	T	C	1: 128,405,462	Q75R	probably benign	Het
Disp1	T	A	1: 183,135,815	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Ep400	T	A	5: 110,756,643	H30L	unknown	Het
Ephx4	A	G	5: 107,419,781	I202V	probably benign	Het
Exoc3	A	T	13: 74,192,908	F259Y	probably damaging	Het
Ezr	T	C	17: 6,752,995	E229G	probably damaging	Het
Fat1	A	T	8: 45,017,380	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,907,389	M759K	probably benign	Het
Gm21994	C	T	2: 150,254,576	R311Q	probably benign	Het
Gm9922	C	T	14: 101,729,457	A120T	unknown	Het
Hectd4	A	T	5: 121,310,681	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,385,869	S465G	unknown	Het
Ifi204	T	C	1: 173,749,358	Y559C	probably damaging	Het
Ift88	T	C	14: 57,481,396	S613P	probably damaging	Het
Kif21a	G	C	15: 90,985,325	A441G	probably damaging	Het
Kif21a	G	T	15: 90,995,512	T191K	probably benign	Het
Lrit1	T	A	14: 37,060,127	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837	D29E	probably benign	Het
Nlrp10	A	T	7: 108,925,528	D248E	probably damaging	Het
Nphp4	T	G	4: 152,547,064	V807G	probably benign	Het
Nsd1	T	C	13: 55,246,043	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,814,485	N80K	probably damaging	Het
Olfr1135	A	T	2: 87,671,761	I202N	probably benign	Het
Oprk1	T	A	1: 5,598,873	C181S	probably damaging	Het
Oprl1	T	A	2: 181,718,419	N89K	probably damaging	Het
Pdcd11	A	G	19: 47,129,302	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607	H254Y	probably benign	Het
Pds5b	A	T	5: 150,805,663	D1419V	possibly damaging	Het
Per1	G	T	11: 69,100,649	G3V	probably benign	Het
Pex16	C	A	2: 92,376,643	N55K	probably damaging	Het
Phldb2	C	A	16: 45,774,977	L862F	probably benign	Het
Pld5	T	A	1: 175,964,006	D478V	probably benign	Het
Pms2	T	C	5: 143,914,796	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,529,872	E119D	probably benign	Het
Ppp2r1a	A	C	17: 20,958,796	E295A	probably damaging	Het
Rad51ap2	A	T	12: 11,457,592	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,396,562	V434G	probably damaging	Het
Rasgrf2	C	T	13: 91,987,973	V6M		Het
Rwdd1	A	T	10: 34,001,156	D197E		Het
Scn11a	A	T	9: 119,790,010	C755*	probably null	Het
Skil	T	C	3: 31,116,860	S443P	probably benign	Het
Slc12a6	T	C	2: 112,356,472	C939R	probably damaging	Het
Slc25a36	A	G	9: 97,079,177	S269P	probably benign	Het
Srrm4	T	A	5: 116,482,393	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tbc1d4	A	T	14: 101,507,410	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,385,232	N593D	probably damaging	Het
Trex1	C	A	9: 109,058,737	R62L	probably damaging	Het
Trpm3	A	T	19: 22,715,352	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,633,150	Y439*	probably null	Het
Ttn	G	A	2: 76,734,248	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,986,503	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,056,481	I212V	possibly damaging	Het
Usp24	T	A	4: 106,347,367	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,261,698	D95V	probably benign	Het
Vwf	G	A	6: 125,624,573	R826Q		Het
Zfp28	T	C	7: 6,393,879	C438R	probably damaging	Het

Other mutations in Olfr1055

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Olfr1055	APN	2	86347733	missense	possibly damaging	0.71
IGL02524:Olfr1055	APN	2	86347342	missense	probably damaging	1.00
R0123:Olfr1055	UTSW	2	86347728	missense	possibly damaging	0.46
R0134:Olfr1055	UTSW	2	86347728	missense	possibly damaging	0.46
R0225:Olfr1055	UTSW	2	86347728	missense	possibly damaging	0.46
R1981:Olfr1055	UTSW	2	86347142	missense	possibly damaging	0.94
R4181:Olfr1055	UTSW	2	86347237	missense	probably damaging	1.00
R5011:Olfr1055	UTSW	2	86347303	missense	probably benign	0.00
R5013:Olfr1055	UTSW	2	86347303	missense	probably benign	0.00
R5077:Olfr1055	UTSW	2	86347339	missense	probably benign	0.00
R6312:Olfr1055	UTSW	2	86347581	missense	probably damaging	1.00
R6345:Olfr1055	UTSW	2	86347548	missense	probably damaging	1.00
R6591:Olfr1055	UTSW	2	86347419	missense	probably damaging	1.00
R6626:Olfr1055	UTSW	2	86347020	missense	possibly damaging	0.81
R6680:Olfr1055	UTSW	2	86347245	missense	probably damaging	1.00
R6691:Olfr1055	UTSW	2	86347419	missense	probably damaging	1.00
R7447:Olfr1055	UTSW	2	86346806	missense	possibly damaging	0.86
R7622:Olfr1055	UTSW	2	86347662	missense	possibly damaging	0.61
R8114:Olfr1055	UTSW	2	86347186	missense	probably benign	0.00
R8138:Olfr1055	UTSW	2	86347586	missense	possibly damaging	0.81
R8242:Olfr1055	UTSW	2	86347082	missense	probably damaging	0.99
R8260:Olfr1055	UTSW	2	86346932	missense	possibly damaging	0.65
R8360:Olfr1055	UTSW	2	86347324	missense	possibly damaging	0.79
R8433:Olfr1055	UTSW	2	86346800	missense	unknown
R8927:Olfr1055	UTSW	2	86347746	missense	possibly damaging	0.92
R8928:Olfr1055	UTSW	2	86347746	missense	possibly damaging	0.92
R9150:Olfr1055	UTSW	2	86346992	missense	probably damaging	0.99
R9291:Olfr1055	UTSW	2	86347424	missense	probably benign	0.14
R9487:Olfr1055	UTSW	2	86347502	missense	probably benign	0.10
Z1176:Olfr1055	UTSW	2	86346883	missense	possibly damaging	0.95

Predicted Primers

Posted On

2022-10-06