Mutagenetix > Incidental Mutations

Incidental Mutation 'R3085:Olfr1198'

265560

Institutional Source

Beutler Lab

Gene Symbol

Olfr1198

Ensembl Gene

ENSMUSG00000075117

Gene Name

olfactory receptor 1198

Synonyms

GA_x6K02T2Q125-50221692-50220766, MOR225-13

MMRRC Submission

040574-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R3085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88743970-88751370 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88746144 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 248 (F248S)

Ref Sequence

ENSEMBL: ENSMUSP00000149844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099814] [ENSMUST00000215179] [ENSMUST00000215529]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099814
AA Change: F248S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097402
Gene: ENSMUSG00000075117
AA Change: F248S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	302	1.1e-49	PFAM
Pfam:7tm_1	38	284	1e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215179
AA Change: F248S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215529
AA Change: F248S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.4875

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 86,543,907		probably benign	Het
Adrm1	T	C	2: 180,174,301		probably null	Het
Aldh18a1	T	C	19: 40,574,369	I76V	probably benign	Het
Atp1b2	T	C	11: 69,602,879	K125E	possibly damaging	Het
Cabyr	T	C	18: 12,750,966	V170A	probably damaging	Het
Cdh8	T	C	8: 99,196,386	T293A	probably benign	Het
Cenpc1	A	T	5: 86,037,617	V345D	probably benign	Het
Col4a3	A	G	1: 82,651,258	E131G	unknown	Het
Col4a4	C	T	1: 82,529,564		probably null	Het
Creb3l1	G	T	2: 91,995,444		probably null	Het
Dhx9	T	C	1: 153,465,699	D601G	probably benign	Het
Dyx1c1	T	A	9: 72,972,406	N289K	probably benign	Het
Eml6	T	C	11: 29,809,332	E807G	probably damaging	Het
Exog	C	A	9: 119,462,452	T241K	probably benign	Het
Eya1	T	C	1: 14,274,090	D109G	probably benign	Het
Fam69a	G	T	5: 107,914,424	D28E	probably damaging	Het
Fat2	C	T	11: 55,252,171	R4284H	possibly damaging	Het
Fbxw13	C	A	9: 109,184,231	G130*	probably null	Het
Fcrl5	A	G	3: 87,446,464	Y372C	probably damaging	Het
Gli3	T	C	13: 15,660,941	S435P	probably damaging	Het
Gsg1l	C	T	7: 125,891,680	R284H	probably benign	Het
Havcr1	C	T	11: 46,756,225	T162I	probably damaging	Het
Igdcc4	T	C	9: 65,132,058	F947S	probably damaging	Het
Irx1	G	T	13: 71,963,292	A66E	probably damaging	Het
Klf11	T	C	12: 24,655,491	S315P	probably benign	Het
Kynu	A	G	2: 43,602,300	M190V	probably benign	Het
Lrp2	T	C	2: 69,467,135	T3161A	probably benign	Het
Macrod1	G	T	19: 7,196,494	A208S	probably damaging	Het
Mamdc2	G	A	19: 23,310,932	H581Y	possibly damaging	Het
Megf8	T	A	7: 25,349,019	Y1706N	probably damaging	Het
Mthfd1l	G	A	10: 4,090,007	R806H	probably benign	Het
Nags	T	A	11: 102,145,984	V133D	probably damaging	Het
Nrg3	C	A	14: 38,370,949	D560Y	probably damaging	Het
Olfr1280	A	G	2: 111,316,116	I212M	probably benign	Het
Olfr1313	C	A	2: 112,071,975	G203*	probably null	Het
Olfr313	T	C	11: 58,817,727	S240P	probably damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pde6d	T	C	1: 86,547,526		probably null	Het
Plekhf1	T	C	7: 38,221,577	E189G	probably benign	Het
Ppm1b	A	T	17: 85,013,860	I477L	probably benign	Het
Rad51ap2	C	A	12: 11,456,757	Q227K	possibly damaging	Het
Rnf125	T	C	18: 20,977,730	V15A	probably benign	Het
Rnps1	C	T	17: 24,412,419		probably benign	Het
Robo1	A	G	16: 73,002,010	I953V	possibly damaging	Het
Sash1	A	T	10: 8,742,422		probably null	Het
Smarcc2	T	C	10: 128,488,159		probably benign	Het
Stx12	T	A	4: 132,857,361	E224V	probably damaging	Het
Sun1	T	C	5: 139,235,601	V357A	probably benign	Het
Synpo2l	T	C	14: 20,662,180	D350G	probably damaging	Het
Tex15	A	T	8: 33,574,885	N1448Y	probably benign	Het
Tfpi	A	G	2: 84,442,883		probably benign	Het
Tktl2	T	A	8: 66,513,206	M472K	possibly damaging	Het
Tmem40	T	C	6: 115,741,615	D43G	possibly damaging	Het
Tshz2	T	A	2: 169,883,951	C156S	probably benign	Het
Vmn2r101	T	A	17: 19,588,815		probably null	Het
Vmn2r85	T	C	10: 130,425,212	M419V	probably benign	Het
Wdr73	G	A	7: 80,901,242		probably benign	Het
Zc3hc1	C	T	6: 30,374,764		probably null	Het
Zfhx3	T	C	8: 108,956,032	Y3368H	unknown	Het
Zfp263	G	A	16: 3,749,716	E632K	probably damaging	Het
Zfp266	A	G	9: 20,500,944	L111P	probably damaging	Het
Zfp626	T	A	7: 27,818,162	S189R	probably benign	Het
Zfp772	T	C	7: 7,203,700	R331G	possibly damaging	Het
Zkscan5	G	A	5: 145,221,079	C797Y	probably damaging	Het

Other mutations in Olfr1198

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02290:Olfr1198	APN	2	88746385	missense	probably benign
IGL02316:Olfr1198	APN	2	88746843	missense	probably damaging	0.97
R0726:Olfr1198	UTSW	2	88746008	missense	probably benign	0.15
R1439:Olfr1198	UTSW	2	88746834	missense	possibly damaging	0.57
R1706:Olfr1198	UTSW	2	88746138	missense	probably damaging	1.00
R1757:Olfr1198	UTSW	2	88746017	missense	probably benign	0.15
R2202:Olfr1198	UTSW	2	88746609	missense	probably benign	0.00
R2203:Olfr1198	UTSW	2	88746609	missense	probably benign	0.00
R2204:Olfr1198	UTSW	2	88746609	missense	probably benign	0.00
R4901:Olfr1198	UTSW	2	88746887	splice site	probably null
R4934:Olfr1198	UTSW	2	88746054	nonsense	probably null
R5687:Olfr1198	UTSW	2	88746750	missense	probably damaging	1.00
R6074:Olfr1198	UTSW	2	88746222	missense	probably damaging	1.00
R6105:Olfr1198	UTSW	2	88746840	missense	probably benign	0.01
R6781:Olfr1198	UTSW	2	88746830	missense	probably benign	0.01
R8745:Olfr1198	UTSW	2	88746064	missense	possibly damaging	0.79
Z1088:Olfr1198	UTSW	2	88746578	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTTGTCTTGGCACCACACC -3'
(R):5'- GTGGCACCAATGAAATAGACC -3'

Sequencing Primer
(F):5'- GCACCACACCTTCCTCATGG -3'
(R):5'- TGAAACTGGCCTGCACAG -3'

Posted On

2015-02-05