Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02175:Olfr1241'

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283071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr1241

Ensembl Gene

ENSMUSG00000075086

Gene Name

olfactory receptor 1241

Synonyms

MOR231-14, GA_x6K02T2Q125-50926215-50925271

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL02175

Quality Score

Status

Chromosome

Chromosomal Location

89481314-89487126 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89482282 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 284 (I284M)

Ref Sequence

ENSEMBL: ENSMUSP00000149914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099778] [ENSMUST00000214743] [ENSMUST00000215055]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099778
AA Change: I284M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097366
Gene: ENSMUSG00000075086
AA Change: I284M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.5e-46	PFAM
Pfam:7tm_1	39	285	8.5e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214743
AA Change: I284M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215055
AA Change: I284M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,535,013		probably null	Het
Adgrf5	A	G	17: 43,451,010	I1199V	probably damaging	Het
Atm	T	A	9: 53,480,665	H1808L	probably damaging	Het
Cadps	C	T	14: 12,467,092	V942M	probably damaging	Het
Capns1	T	C	7: 30,190,532	D116G	probably benign	Het
Ccdc110	T	G	8: 45,940,623	M124R	probably benign	Het
Cdh23	T	C	10: 60,331,308	N1855S	possibly damaging	Het
Dstyk	T	A	1: 132,449,391	L245*	probably null	Het
Dync2h1	A	G	9: 7,111,548	Y289H	possibly damaging	Het
Efcab6	G	A	15: 83,896,100	A1044V	probably damaging	Het
Egr1	T	C	18: 34,863,055	S297P	probably benign	Het
Ercc6l2	T	C	13: 63,869,190		probably benign	Het
Frem2	C	T	3: 53,655,599	A496T	possibly damaging	Het
Hook2	T	A	8: 84,991,402	W53R	probably damaging	Het
Med19	T	A	2: 84,678,663		probably null	Het
Mgrn1	A	G	16: 4,920,368	N262S	probably benign	Het
Nbas	T	G	12: 13,566,259		probably null	Het
Ndc80	A	C	17: 71,511,419	M314R	probably benign	Het
Nelfcd	A	T	2: 174,420,382	T89S	probably benign	Het
Nlrp4a	A	T	7: 26,475,097	E969D	probably damaging	Het
Ntrk3	A	G	7: 78,247,228	V687A	probably damaging	Het
Oc90	A	C	15: 65,883,825	S224R	possibly damaging	Het
Plxnb1	C	T	9: 109,100,846	H257Y	possibly damaging	Het
Prpf3	A	G	3: 95,834,107	V579A	probably damaging	Het
Rarres1	T	C	3: 67,495,756	N104S	probably benign	Het
Serpina1d	T	C	12: 103,765,696		probably null	Het
Sik2	G	A	9: 50,895,609	Q834*	probably null	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Snx13	T	A	12: 35,132,062	N703K	possibly damaging	Het
Spaca9	T	C	2: 28,695,924	I43V	probably benign	Het
Tor1aip2	T	C	1: 156,065,006	S353P	probably damaging	Het
Trmt1l	T	C	1: 151,448,484	S361P	probably benign	Het
Trpm2	T	C	10: 77,937,907	H558R	probably benign	Het
Vmn1r75	T	C	7: 11,880,847	C127R	probably damaging	Het
Zfp879	A	T	11: 50,837,916	Y84N	probably benign	Het

Other mutations in Olfr1241

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01289:Olfr1241	APN	2	89482847	missense	probably benign	0.38
IGL02625:Olfr1241	APN	2	89482674	missense	probably damaging	1.00
R0109:Olfr1241	UTSW	2	89482803	missense	probably benign	0.10
R0109:Olfr1241	UTSW	2	89482803	missense	probably benign	0.10
R1468:Olfr1241	UTSW	2	89482511	missense	possibly damaging	0.94
R1468:Olfr1241	UTSW	2	89482511	missense	possibly damaging	0.94
R1511:Olfr1241	UTSW	2	89482248	missense	probably null	0.01
R1527:Olfr1241	UTSW	2	89482532	missense	probably benign	0.10
R1528:Olfr1241	UTSW	2	89482553	missense	probably damaging	1.00
R1585:Olfr1241	UTSW	2	89482971	missense	probably benign	0.00
R2483:Olfr1241	UTSW	2	89483127	nonsense	probably null
R2972:Olfr1241	UTSW	2	89482776	missense	possibly damaging	0.52
R3692:Olfr1241	UTSW	2	89482896	missense	probably benign
R4592:Olfr1241	UTSW	2	89482756	missense	probably damaging	1.00
R4883:Olfr1241	UTSW	2	89482308	missense	probably benign
R7104:Olfr1241	UTSW	2	89483114	missense	possibly damaging	0.70
R7347:Olfr1241	UTSW	2	89482455	missense	probably benign	0.05

Posted On

2015-04-16