Mutagenetix > Incidental Mutation

Incidental Mutation 'R0648:Olfr1342'

57329

Institutional Source

Beutler Lab

Gene Symbol

Olfr1342

Ensembl Gene

ENSMUSG00000043383

Gene Name

olfactory receptor 1342

Synonyms

GA_x6K02T2QD9B-18856980-18857927, MOR258-3

MMRRC Submission

038833-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0648 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118687486-118692756 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118690072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 127 (V127I)

Ref Sequence

ENSEMBL: ENSMUSP00000149966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060562] [ENSMUST00000216226]

AlphaFold

Q8VFY3

Predicted Effect

probably benign
Transcript: ENSMUST00000060562
AA Change: V127I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053925
Gene: ENSMUSG00000043383
AA Change: V127I

Domain	Start	End	E-Value	Type
low complexity region	10	24	N/A	INTRINSIC
Pfam:7tm_4	34	311	1.5e-55	PFAM
Pfam:7TM_GPCR_Srsx	38	243	1.6e-5	PFAM
Pfam:7tm_1	44	293	4.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216226
AA Change: V127I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (80/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	A	G	6: 129,330,969	F46L	probably benign	Het
Abcc5	A	G	16: 20,365,882	V1009A	possibly damaging	Het
Acta2	T	C	19: 34,248,534	I87V	probably benign	Het
Arid1a	A	G	4: 133,685,204	Y1560H	unknown	Het
Bcor	C	T	X: 12,059,051	R102Q	probably damaging	Het
Camsap2	A	T	1: 136,304,319	D179E	probably damaging	Het
Ccdc18	T	A	5: 108,135,560	S46T	probably damaging	Het
Ccdc18	A	C	5: 108,174,987	Q651P	probably damaging	Het
Cdc73	T	C	1: 143,695,462	T80A	probably benign	Het
Cdh7	T	A	1: 110,065,607		probably benign	Het
Cenpe	G	A	3: 135,230,082	G426D	probably damaging	Het
Cenpt	A	G	8: 105,844,960	V487A	probably damaging	Het
Col4a1	G	A	8: 11,246,892	P84S	unknown	Het
Dennd2d	A	G	3: 106,500,555	I450M	probably damaging	Het
Dhps	C	A	8: 85,073,282		probably null	Het
Ebf1	A	T	11: 44,991,510	H431L	probably damaging	Het
Efcab6	A	G	15: 83,933,064		probably benign	Het
Egflam	T	C	15: 7,207,709	H990R	probably damaging	Het
Ercc6l2	A	G	13: 63,844,645	T303A	probably benign	Het
Fam160a1	A	C	3: 85,730,614	V126G	probably damaging	Het
Fam167b	T	C	4: 129,578,357	K7E	probably benign	Het
Fgd3	T	C	13: 49,296,573	I67V	probably benign	Het
Fn1	A	T	1: 71,597,585	V2045D	possibly damaging	Het
Gm10451	A	G	12: 76,451,296		noncoding transcript	Het
Gm8251	A	G	1: 44,056,563	S1792P	possibly damaging	Het
Gnl1	A	G	17: 35,982,598	N225S	probably damaging	Het
Gpx6	A	T	13: 21,318,877	N154Y	probably benign	Het
Haus8	C	A	8: 71,256,530	G79V	probably damaging	Het
Hdgfl1	A	T	13: 26,769,853	L79Q	probably damaging	Het
Hist2h2be	A	G	3: 96,221,535	S124G	probably benign	Het
Impdh2	T	C	9: 108,563,466	Y83H	probably benign	Het
Lama2	T	C	10: 26,989,376	T2929A	probably benign	Het
Lpin2	T	C	17: 71,229,312	S199P	probably benign	Het
Mkl1	A	G	15: 81,016,920	S457P	probably damaging	Het
Moap1	T	C	12: 102,742,517	T258A	probably benign	Het
Mrps35	C	A	6: 147,055,945	S156*	probably null	Het
Mtbp	C	T	15: 55,603,201	P537S	probably benign	Het
Ncstn	C	A	1: 172,067,887	V565F	probably benign	Het
Nhsl1	A	G	10: 18,531,726	N1536S	possibly damaging	Het
Nkain4	T	C	2: 180,943,112	Q103R	possibly damaging	Het
Nsun2	T	A	13: 69,627,587	N383K	probably damaging	Het
Olfr820	A	G	10: 130,017,481	N40S	probably damaging	Het
Parp1	C	T	1: 180,600,440		probably benign	Het
Pkd1	G	A	17: 24,594,937	R4125H	probably damaging	Het
Plxnd1	T	C	6: 115,994,001	I269V	possibly damaging	Het
Qrich1	T	A	9: 108,544,877	N563K	probably damaging	Het
Rab3il1	TGAAG	TGAAGAAG	19: 10,027,388		probably benign	Het
Rell1	G	A	5: 63,924,745	T271M	probably benign	Het
Rgl1	A	G	1: 152,536,265		probably null	Het
Rph3a	C	T	5: 120,959,270	R261H	possibly damaging	Het
Ryr2	A	T	13: 11,724,333	M2161K	possibly damaging	Het
Scaf11	T	C	15: 96,418,458	N1075S	possibly damaging	Het
Serpina3j	A	G	12: 104,314,679	D37G	probably benign	Het
Siah2	A	G	3: 58,676,214	V217A	probably damaging	Het
Sik2	T	C	9: 50,898,745	D506G	probably benign	Het
Skap2	A	C	6: 51,879,785	V279G	probably benign	Het
Slc8a3	G	T	12: 81,314,446	T533N	probably damaging	Het
Slc9a7	A	T	X: 20,162,420		probably benign	Het
Snai3	G	T	8: 122,454,994	F241L	probably damaging	Het
Speg	T	C	1: 75,427,978	S2805P	probably benign	Het
Spink5	A	T	18: 43,999,797		probably benign	Het
Tctn1	C	T	5: 122,251,698	E254K	probably benign	Het
Tdrd3	C	T	14: 87,472,182	T100M	probably damaging	Het
Tex47	T	C	5: 7,305,215	V132A	probably benign	Het
Thbs3	A	G	3: 89,216,665		probably null	Het
Tigit	T	A	16: 43,662,038	Y111F	probably damaging	Het
Tmem245	A	G	4: 56,906,270	I148T	probably benign	Het
Tmem97	A	G	11: 78,550,539	Y39H	probably benign	Het
Tnks2	T	A	19: 36,862,074		probably null	Het
Trp53bp1	A	G	2: 121,235,707	V846A	probably benign	Het
Tulp2	T	G	7: 45,519,786	I259S	probably damaging	Het
Twistnb	C	T	12: 33,438,000	Q305*	probably null	Het
Ubxn1	G	A	19: 8,874,248	R215H	probably damaging	Het
Vmn1r17	A	G	6: 57,360,475	F253L	probably damaging	Het
Vmn2r10	T	C	5: 108,995,916	M723V	probably benign	Het
Xndc1	T	C	7: 102,078,824	V14A	possibly damaging	Het
Xpnpep1	A	G	19: 52,997,863		probably benign	Het
Yes1	T	A	5: 32,655,518	M322K	possibly damaging	Het
Zdhhc14	C	A	17: 5,493,602	N52K	probably benign	Het
Zfp42	A	G	8: 43,295,978	V162A	probably benign	Het

Other mutations in Olfr1342

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01823:Olfr1342	APN	4	118689721	missense	probably damaging	1.00
IGL02391:Olfr1342	APN	4	118690341	missense	probably damaging	1.00
R1565:Olfr1342	UTSW	4	118690192	missense	probably damaging	1.00
R1675:Olfr1342	UTSW	4	118689948	missense	probably benign	0.00
R1823:Olfr1342	UTSW	4	118690192	missense	probably damaging	1.00
R2343:Olfr1342	UTSW	4	118690187	missense	probably benign	0.30
R4618:Olfr1342	UTSW	4	118689470	utr 3 prime	probably benign
R4941:Olfr1342	UTSW	4	118689892	missense	possibly damaging	0.76
R5408:Olfr1342	UTSW	4	118690444	missense	probably benign	0.00
R5587:Olfr1342	UTSW	4	118689870	missense	probably damaging	1.00
R5895:Olfr1342	UTSW	4	118690117	missense	probably damaging	0.97
R6023:Olfr1342	UTSW	4	118690074	missense	probably damaging	1.00
R6307:Olfr1342	UTSW	4	118689948	missense	probably benign	0.00
R6324:Olfr1342	UTSW	4	118690531	start gained	probably benign
R6890:Olfr1342	UTSW	4	118689531	missense	possibly damaging	0.72
R7218:Olfr1342	UTSW	4	118690018	missense	probably benign
R7408:Olfr1342	UTSW	4	118689662	missense	probably damaging	0.98
R7555:Olfr1342	UTSW	4	118689642	missense	possibly damaging	0.94
R7749:Olfr1342	UTSW	4	118690228	missense	probably damaging	1.00
R8098:Olfr1342	UTSW	4	118690209	missense	possibly damaging	0.88
R8493:Olfr1342	UTSW	4	118690032	missense	probably benign	0.01
R9445:Olfr1342	UTSW	4	118690219	missense	probably damaging	0.98
R9500:Olfr1342	UTSW	4	118689733	missense	possibly damaging	0.91
Z1176:Olfr1342	UTSW	4	118690272	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TGAAACCCAGGATGAAGTCCAAGC -3'
(R):5'- GAGTTACGTCACTACCACTGTGCC -3'

Sequencing Primer
(F):5'- TGAAGTCCAAGCGGTCATTG -3'
(R):5'- CCCAGATGCTGGTTAACATGG -3'

Posted On

2013-07-11