Mutagenetix > Incidental Mutations

Incidental Mutation 'R6307:Olfr1342'

509455

Institutional Source

Beutler Lab

Gene Symbol

Olfr1342

Ensembl Gene

ENSMUSG00000043383

Gene Name

olfactory receptor 1342

Synonyms

GA_x6K02T2QD9B-18856980-18857927, MOR258-3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R6307 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118687486-118692756 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118689948 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 168 (R168H)

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: R168H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000053925
Gene: ENSMUSG00000043383
AA Change: R168H

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: R168H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 80,007,387	L1232P	probably damaging	Het
Akap6	A	T	12: 53,141,568	I1922F	possibly damaging	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Arpc5	T	C	1: 152,771,455	V103A	possibly damaging	Het
Atp9a	C	A	2: 168,668,170	V430F	probably benign	Het
Bod1	A	G	11: 31,666,932	S110P	probably damaging	Het
Cacna1c	C	A	6: 118,613,953	V1453F	probably damaging	Het
Capn8	T	A	1: 182,607,699	M414K	probably damaging	Het
Cbl	A	T	9: 44,158,512		probably null	Het
Ccdc42	A	T	11: 68,588,280	Q98L	probably damaging	Het
Cd200	C	A	16: 45,397,182	V49L	probably benign	Het
Celsr1	A	G	15: 85,928,330	S2060P	probably benign	Het
Ces1g	A	T	8: 93,331,192	H160Q	possibly damaging	Het
Chrnb2	G	T	3: 89,761,524	H161Q	probably damaging	Het
Ctns	G	A	11: 73,191,733	T57I	probably benign	Het
Cyp3a25	A	T	5: 145,994,956	M114K	possibly damaging	Het
D630003M21Rik	A	G	2: 158,215,951	F536L	probably benign	Het
Dcc	C	T	18: 71,810,755	R275Q	probably benign	Het
Dmxl2	A	T	9: 54,382,706	H2508Q	possibly damaging	Het
Elf5	C	A	2: 103,439,412	Q113K	probably damaging	Het
Fam83a	T	G	15: 57,986,111	V17G	possibly damaging	Het
Farsa	T	C	8: 84,861,045		probably null	Het
Fat2	G	C	11: 55,281,280	T2869S	possibly damaging	Het
Fgg	A	T	3: 83,012,976	Q354L	probably damaging	Het
Folh1	T	C	7: 86,723,309	D679G	probably damaging	Het
Gbp4	T	A	5: 105,123,109	R83*	probably null	Het
Gm17482	T	A	6: 115,227,350		probably benign	Het
Hmgxb4	T	A	8: 75,023,299	V481D	possibly damaging	Het
Ifi207	A	C	1: 173,725,053	Y926D	probably damaging	Het
Ikzf5	T	A	7: 131,391,648	N264Y	probably damaging	Het
Kat6a	T	A	8: 22,940,368	M1913K	unknown	Het
Krt33b	A	T	11: 100,024,868	C351S	probably benign	Het
Lrp1	T	C	10: 127,592,075	D543G	probably damaging	Het
Lrrfip2	C	T	9: 111,223,953	R339W	probably damaging	Het
Mapk3	T	G	7: 126,764,282	M276R	probably benign	Het
Mgst1	T	C	6: 138,150,829	V137A	probably benign	Het
Muc16	T	C	9: 18,647,588	T2470A	unknown	Het
Muc4	C	T	16: 32,753,946	S1274F	possibly damaging	Het
Myo5c	A	C	9: 75,272,916	K713T	possibly damaging	Het
Myzap	T	C	9: 71,558,864	D170G	possibly damaging	Het
Naa50	T	C	16: 44,159,468	V113A	probably damaging	Het
Neu3	T	C	7: 99,813,722	T265A	probably benign	Het
Nin	T	C	12: 70,014,857	T2078A	possibly damaging	Het
Nomo1	G	A	7: 46,033,836		probably benign	Het
Nov	T	C	15: 54,748,025		probably null	Het
Nprl3	A	G	11: 32,239,828	L273P	probably damaging	Het
Oaf	T	A	9: 43,224,919	H120L	possibly damaging	Het
Olfr1053	T	C	2: 86,315,124	H54R	probably benign	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Olfr982	T	C	9: 40,074,528	S78P	probably damaging	Het
Pcdhga3	T	A	18: 37,676,621		probably benign	Het
Polq	G	A	16: 37,017,356		probably null	Het
Prdm8	C	T	5: 98,185,303	P243L	possibly damaging	Het
Prim2	T	C	1: 33,662,292	D138G	probably benign	Het
Prl2c5	A	G	13: 13,190,590	E107G	probably benign	Het
Prr14l	T	A	5: 32,827,525	H1542L	probably damaging	Het
Rab26	T	C	17: 24,530,098	E203G	probably damaging	Het
Rtkn2	A	T	10: 68,035,832	H350L	possibly damaging	Het
Scara3	T	C	14: 65,938,261	D19G	probably benign	Het
Scn3a	A	G	2: 65,472,341	S1254P	probably damaging	Het
Sdcbp	A	G	4: 6,385,059	M93V	probably benign	Het
Sema6a	C	A	18: 47,249,164	R772L	probably damaging	Het
Slc5a7	T	C	17: 54,276,978	K428R	probably benign	Het
Sptbn2	G	A	19: 4,724,646	G109D	probably damaging	Het
Tmppe	T	C	9: 114,404,744	L37P	probably benign	Het
Tuba1a	T	C	15: 98,951,529	T56A	probably benign	Het
Vmn2r111	A	G	17: 22,573,089	I62T	probably benign	Het
Vmn2r73	A	G	7: 85,857,620	I828T	probably damaging	Het
Vmn2r79	T	A	7: 87,037,768	W786R	probably damaging	Het
Zcchc11	T	A	4: 108,555,620	I1506N	probably damaging	Het
Zp1	G	A	19: 10,916,720	T405M	probably null	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
R0648:Olfr1342	UTSW	4	118690072	missense	probably benign
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
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
Z1176:Olfr1342	UTSW	4	118690272	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- GCGGATTCTTAAGATGGAGGC -3'
(R):5'- GCTTGTGTAGCCCAGATGTTC -3'

Sequencing Primer
(F):5'- ATTCTTAAGATGGAGGCAAAGATG -3'
(R):5'- GTGTAGCCCAGATGTTCATCTTC -3'

Posted On

2018-04-02