Mutagenetix > Incidental Mutations

Incidental Mutation 'R3616:Olfr142'

268384

Institutional Source

Beutler Lab

Gene Symbol

Olfr142

Ensembl Gene

ENSMUSG00000075063

Gene Name

olfactory receptor 142

Synonyms

GA_x6K02T2Q125-51607674-51606757, K20, MOR227-2

MMRRC Submission

040673-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R3616 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90250130-90257592 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90252409 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 193 (E193G)

Ref Sequence

ENSEMBL: ENSMUSP00000150216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099752] [ENSMUST00000213968]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099752
AA Change: E193G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097341
Gene: ENSMUSG00000075063
AA Change: E193G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	4.3e-53	PFAM
Pfam:7TM_GPCR_Srsx	33	300	3e-6	PFAM
Pfam:7tm_1	39	285	5.8e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213968
AA Change: E193G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (29/29)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,864	N399S	probably benign	Het
A2ml1	T	C	6: 128,558,294	T818A	probably benign	Het
Aasdh	A	G	5: 76,888,782	V304A	probably benign	Het
Angptl3	G	A	4: 99,034,465	A248T	probably benign	Het
Ap2b1	T	A	11: 83,324,565	C112S	possibly damaging	Het
Aqr	A	T	2: 114,136,887	I549N	probably damaging	Het
Barhl1	C	T	2: 28,911,550	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942	V821A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dnah1	A	G	14: 31,315,148	L247P	possibly damaging	Het
Dpysl2	T	A	14: 66,834,370	H107L	probably damaging	Het
Dzip3	A	G	16: 48,937,063	L869S	probably damaging	Het
Efs	T	C	14: 54,920,095	Y160C	probably damaging	Het
Enam	A	T	5: 88,504,447	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam184b	A	G	5: 45,582,815	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,743,760	Y105*	probably null	Het
Fiz1	A	G	7: 5,008,172	L449P	probably benign	Het
Foxi2	T	A	7: 135,410,451	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,944,957	R212Q	probably damaging	Het
Gm5105	C	A	3: 138,049,688	A46S	unknown	Het
Gm597	T	C	1: 28,776,575	D792G	probably benign	Het
Grik5	C	T	7: 25,022,571	A581T	probably benign	Het
Gse1	C	G	8: 120,572,742		probably benign	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Kif1b	A	T	4: 149,262,283		probably benign	Het
Krt25	A	C	11: 99,317,298	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,033,287	V269A	probably benign	Het
Lamc1	T	C	1: 153,251,150	K417E	probably damaging	Het
Miip	A	G	4: 147,865,914	M75T	probably benign	Het
Nlrp10	A	G	7: 108,924,476	F599S	probably benign	Het
Nlrp12	T	A	7: 3,240,575	M436L	probably benign	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Pard6b	T	C	2: 168,087,339		probably benign	Het
Pla2g2e	G	A	4: 138,880,374	V22I	probably benign	Het
Plekhd1	A	G	12: 80,717,270	E202G	probably damaging	Het
Prss21	A	G	17: 23,872,831	T258A	probably benign	Het
Prss34	A	G	17: 25,298,846	E65G	probably benign	Het
Psap	A	G	10: 60,294,603	N149S	probably benign	Het
Ptprf	C	T	4: 118,237,883	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520	L12P	probably damaging	Het
Sf3b3	A	G	8: 110,844,523	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,137,705	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,653,570	L397Q	probably damaging	Het
Smg5	A	G	3: 88,336,451	S10G	possibly damaging	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Tas2r102	C	T	6: 132,762,818	Q230*	probably null	Het
Tdo2	A	G	3: 81,975,428	Y13H	possibly damaging	Het
Tmem231	C	T	8: 111,918,313	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,545,579	M254T	probably damaging	Het
Trpm1	G	A	7: 64,243,570	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,164,838	K347N	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Vash2	T	C	1: 190,970,419	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,489,866	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,793,939	T420A	probably benign	Het

Other mutations in Olfr142

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Olfr142	APN	2	90252609	missense	probably damaging	1.00
IGL01623:Olfr142	APN	2	90252609	missense	probably damaging	1.00
IGL01810:Olfr142	APN	2	90252132	nonsense	probably null
IGL01918:Olfr142	APN	2	90252331	missense	probably damaging	1.00
IGL02619:Olfr142	APN	2	90252505	missense	probably damaging	0.97
IGL02732:Olfr142	APN	2	90252308	missense	probably damaging	1.00
IGL02738:Olfr142	APN	2	90252355	missense	possibly damaging	0.82
IGL02795:Olfr142	APN	2	90252562	missense	probably damaging	1.00
IGL02830:Olfr142	APN	2	90252781	missense	probably damaging	1.00
R0601:Olfr142	UTSW	2	90252934	missense	probably benign	0.05
R2004:Olfr142	UTSW	2	90252692	missense	probably benign	0.04
R2136:Olfr142	UTSW	2	90252253	missense	probably damaging	0.98
R2377:Olfr142	UTSW	2	90252911	missense	probably damaging	1.00
R3615:Olfr142	UTSW	2	90252409	missense	possibly damaging	0.94
R3777:Olfr142	UTSW	2	90252625	missense	probably damaging	1.00
R4763:Olfr142	UTSW	2	90252463	missense	probably damaging	1.00
R4765:Olfr142	UTSW	2	90252463	missense	probably damaging	1.00
R5421:Olfr142	UTSW	2	90252745	missense	probably benign	0.01
R5426:Olfr142	UTSW	2	90252611	nonsense	probably null
R6063:Olfr142	UTSW	2	90252427	missense	probably benign	0.40
R6717:Olfr142	UTSW	2	90252524	missense	probably benign	0.00
R6931:Olfr142	UTSW	2	90252777	nonsense	probably null
R6936:Olfr142	UTSW	2	90252334	missense	probably benign	0.17
R7013:Olfr142	UTSW	2	90252097	missense	possibly damaging	0.87
R7091:Olfr142	UTSW	2	90252463	missense	probably damaging	1.00
R7247:Olfr142	UTSW	2	90252821	missense	probably damaging	1.00
R8169:Olfr142	UTSW	2	90252098	nonsense	probably null
R8345:Olfr142	UTSW	2	90252217	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- AGAACAGGATGACCACTGTG -3'
(R):5'- GATGGCCTATGACCGCTATGTG -3'

Sequencing Primer
(F):5'- CAGGATGACCACTGTGATGTG -3'
(R):5'- CATCATGAGTCGTCAAGTGTGTCAC -3'

Posted On

2015-02-19