Mutagenetix > Incidental Mutations

Incidental Mutation 'R3808:Olfr127'

275067

Institutional Source

Beutler Lab

Gene Symbol

Olfr127

Ensembl Gene

ENSMUSG00000058114

Gene Name

olfactory receptor 127

Synonyms

MOR218-7, GA_x6K02T2PSCP-2354126-2355093

MMRRC Submission

040765-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R3808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37900437-37906795 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37903573 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 9 (V9A)

Ref Sequence

ENSEMBL: ENSMUSP00000149133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076331] [ENSMUST00000217223]

Predicted Effect

probably benign
Transcript: ENSMUST00000076331
AA Change: V9A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075669
Gene: ENSMUSG00000058114
AA Change: V9A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.7e-46	PFAM
Pfam:7tm_1	41	290	1.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217223
AA Change: V9A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Aldh3a2	G	T	11: 61,258,797	L248M	probably damaging	Het
Als2	A	G	1: 59,170,450	S1458P	probably benign	Het
Arhgap5	A	G	12: 52,567,187	E192G	possibly damaging	Het
Atg2a	A	G	19: 6,252,816	K1019R	possibly damaging	Het
Atp2b1	A	G	10: 99,003,148	K613E	possibly damaging	Het
Carm1	T	C	9: 21,586,962	C421R	probably damaging	Het
Cdh17	A	T	4: 11,795,671	Y417F	probably damaging	Het
Cers1	A	G	8: 70,330,010	D10G	possibly damaging	Het
Clptm1l	A	C	13: 73,612,454	M319L	probably benign	Het
Cntnap3	A	G	13: 64,781,804	V527A	probably damaging	Het
Creb3l2	A	G	6: 37,355,690	S290P	probably damaging	Het
D3Ertd254e	T	G	3: 36,165,643		probably null	Het
Dock4	T	G	12: 40,672,810	V305G	probably damaging	Het
Dtl	A	C	1: 191,548,354	L356R	probably damaging	Het
Eftud2	A	T	11: 102,841,463		probably null	Het
Eif2b4	A	G	5: 31,191,168	S88P	possibly damaging	Het
Fat4	T	G	3: 38,982,438	V3413G	possibly damaging	Het
Fgfr2	T	C	7: 130,199,848	M218V	probably benign	Het
Grin2b	A	G	6: 135,923,271	L204P	probably damaging	Het
Kcnj12	A	G	11: 61,070,277	N467S	probably benign	Het
Klhdc3	T	A	17: 46,677,932	N111Y	possibly damaging	Het
Lin9	A	G	1: 180,659,111	I81V	probably null	Het
Lrp2	T	C	2: 69,501,548	D1621G	probably damaging	Het
Lrp4	T	A	2: 91,476,702	D389E	probably damaging	Het
Med15	C	T	16: 17,655,734		probably benign	Het
Nbea	T	C	3: 55,717,848	N2274S	probably benign	Het
Nr3c2	G	A	8: 76,908,714	G148D	probably damaging	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Olfr982	A	T	9: 40,074,309	M5L	probably benign	Het
Paxip1	A	G	5: 27,772,029		probably benign	Het
Pfas	T	C	11: 68,989,953		probably benign	Het
Plin3	C	A	17: 56,286,275	A96S	probably damaging	Het
Pnck	T	A	X: 73,656,944	I288F	probably damaging	Het
Ppp4c	C	T	7: 126,787,327	G166D	probably damaging	Het
Prss43	A	T	9: 110,827,772	R115S	probably damaging	Het
Rassf2	T	C	2: 131,998,260		probably null	Het
Rdh16f1	T	A	10: 127,788,699	D135E	probably benign	Het
Rdh16f1	G	A	10: 127,788,700	V136M	probably damaging	Het
Rgs12	A	G	5: 35,032,354	E702G	probably damaging	Het
Rnf213	A	G	11: 119,479,558	K4728E	probably damaging	Het
Ros1	T	G	10: 52,120,848	T1243P	probably benign	Het
Sall1	G	A	8: 89,031,473	Q668*	probably null	Het
Sbf2	C	A	7: 110,489,280	*45L	probably null	Het
Serpina3j	A	T	12: 104,319,827	I414F	probably benign	Het
Sh2d3c	T	C	2: 32,746,096	Y159H	probably damaging	Het
Slamf1	A	G	1: 171,798,177	D307G	probably null	Het
Slc22a13	T	C	9: 119,196,077	T178A	probably benign	Het
Smchd1	A	T	17: 71,429,541	L588H	probably damaging	Het
Svs1	C	T	6: 48,987,994	P312L	possibly damaging	Het
Trim12a	G	A	7: 104,306,994	A113V	probably benign	Het
Vil1	T	C	1: 74,427,613	V654A	probably benign	Het
Vmn1r202	T	C	13: 22,501,900	T116A	possibly damaging	Het
Zfp607a	G	A	7: 27,879,401	R632H	probably benign	Het

Other mutations in Olfr127

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Olfr127	APN	17	37904257	missense	probably damaging	0.98
IGL00981:Olfr127	APN	17	37904181	missense	probably benign	0.03
IGL02271:Olfr127	APN	17	37904243	missense	probably benign	0.22
IGL02409:Olfr127	APN	17	37903788	missense	probably damaging	0.99
R1649:Olfr127	UTSW	17	37904169	missense	probably benign	0.09
R1808:Olfr127	UTSW	17	37903770	missense	probably damaging	1.00
R2360:Olfr127	UTSW	17	37904454	missense	possibly damaging	0.94
R3809:Olfr127	UTSW	17	37903573	missense	probably benign	0.00
R3953:Olfr127	UTSW	17	37903609	missense	probably benign	0.00
R3955:Olfr127	UTSW	17	37903609	missense	probably benign	0.00
R3957:Olfr127	UTSW	17	37903609	missense	probably benign	0.00
R4683:Olfr127	UTSW	17	37904148	missense	probably benign
R5430:Olfr127	UTSW	17	37904413	missense	probably damaging	1.00
R5716:Olfr127	UTSW	17	37903828	missense	probably benign	0.00
R5866:Olfr127	UTSW	17	37903809	nonsense	probably null
R7074:Olfr127	UTSW	17	37903827	missense	possibly damaging	0.80
R7238:Olfr127	UTSW	17	37904437	missense	probably benign	0.37
R8098:Olfr127	UTSW	17	37904359	missense	probably damaging	1.00
R8212:Olfr127	UTSW	17	37904257	missense	probably benign	0.00
X0021:Olfr127	UTSW	17	37903756	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAGGCTTGATAAACTGCAATTCC -3'
(R):5'- CATACTGGGGAACTGTGACAG -3'

Sequencing Primer
(F):5'- GCTTGATAAACTGCAATTCCTTAAAC -3'
(R):5'- TCCATAATGGAAAGGTGCTTCAG -3'

Posted On

2015-04-02