Mutagenetix > Incidental Mutations

Incidental Mutation 'R6218:Olfr1318'

503823

Institutional Source

Beutler Lab

Gene Symbol

Olfr1318

Ensembl Gene

ENSMUSG00000049758

Gene Name

olfactory receptor 1318

Synonyms

MOR245-16, GA_x6K02T2Q125-73202172-73203134

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6218 (G1)

Quality Score

189.009

Status

Validated

Chromosome

Chromosomal Location

112154198-112159157 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112156356 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 135 (I135T)

Ref Sequence

ENSEMBL: ENSMUSP00000151164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058176] [ENSMUST00000214063] [ENSMUST00000217533]

AlphaFold

Q7TQW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000058176
AA Change: I135T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051938
Gene: ENSMUSG00000049758
AA Change: I135T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	2.4e-39	PFAM
Pfam:7tm_1	41	287	1.5e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214063
AA Change: I135T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216873

Predicted Effect

probably damaging
Transcript: ENSMUST00000217533
AA Change: I135T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,837,904	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 49,019,307	N766K	probably benign	Het
Adam15	A	C	3: 89,343,883	I505S	probably benign	Het
Apc2	T	C	10: 80,306,420	M391T	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bclaf1	A	G	10: 20,334,628	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,239,060	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,747,928		probably null	Het
Ddhd1	A	G	14: 45,614,176	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,523,672	S469T	probably benign	Het
Dzip3	A	T	16: 48,958,465	M323K	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,409	A10T	possibly damaging	Het
Eci2	T	A	13: 34,993,065		probably null	Het
Fam109b	T	A	15: 82,343,716	H145Q	probably benign	Het
Fam227b	A	T	2: 126,126,962	V64E	probably damaging	Het
Galnt2	A	G	8: 124,343,315	I524V	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm14548	A	T	7: 3,894,032	S602T	possibly damaging	Het
Gm3443	T	A	19: 21,555,746	S25T	probably damaging	Het
Gpr22	T	A	12: 31,711,617	K14*	probably null	Het
Grip1	T	C	10: 119,986,346	S405P	possibly damaging	Het
Helz2	C	A	2: 181,232,294	V2136L	probably benign	Het
Helz2	T	C	2: 181,235,945	H1020R	probably damaging	Het
Il1f5	G	A	2: 24,277,490		probably benign	Het
Iqsec1	T	A	6: 90,689,635	S607C	probably damaging	Het
Klhl2	A	T	8: 64,752,767	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,292,747	I595V	unknown	Het
Large2	T	C	2: 92,370,636	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,082,159	Y122H	probably damaging	Het
Map1b	A	T	13: 99,433,206	D1002E	unknown	Het
Mink1	C	T	11: 70,598,894	T59I	possibly damaging	Het
Mrvi1	G	A	7: 110,876,905	T819M	probably benign	Het
Myo7b	T	C	18: 31,959,454	N2097D	probably benign	Het
Nbea	C	A	3: 55,628,484	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,436,093	V490E	probably damaging	Het
Olfr1230	G	T	2: 89,296,962	H103N	probably damaging	Het
Olfr131	A	G	17: 38,082,729	M83T	probably damaging	Het
Olfr1369-ps1	G	A	13: 21,116,231	E180K	probably damaging	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pdcl3	T	C	1: 38,988,071		probably null	Het
Pkp1	T	C	1: 135,879,908	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,591,564	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,431	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,208,811	Y712H	probably damaging	Het
Prune2	T	C	19: 17,121,562	S1477P	probably benign	Het
Psma5	A	G	3: 108,279,802	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,270,456	A284P	probably benign	Het
Samsn1	G	A	16: 75,945,274		noncoding transcript	Het
Scel	A	G	14: 103,572,042	T273A	probably benign	Het
Slc22a5	T	A	11: 53,891,618		probably benign	Het
Slc25a37	A	T	14: 69,249,504	M110K	possibly damaging	Het
Slc6a2	A	T	8: 92,981,981	M242L	probably benign	Het
Slc8a3	C	A	12: 81,199,567	W904L	probably benign	Het
Ss18l1	G	A	2: 180,055,112	V109I	probably benign	Het
Tbx5	C	T	5: 119,853,598	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,052,913	L244F	probably damaging	Het
Tmem107	T	A	11: 69,071,415	V66E	probably damaging	Het
Tnr	T	C	1: 159,888,314	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,470,807	V340A	possibly damaging	Het
Veph1	T	C	3: 66,255,060	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,229,721	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,464	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,998,073	E620G	probably benign	Het
Zfp418	A	G	7: 7,182,628	H530R	possibly damaging	Het

Other mutations in Olfr1318

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Olfr1318	APN	2	112156067	missense	probably benign
IGL00923:Olfr1318	APN	2	112156777	missense	possibly damaging	0.75
IGL02800:Olfr1318	APN	2	112156244	missense	possibly damaging	0.95
R0012:Olfr1318	UTSW	2	112156826	missense	possibly damaging	0.84
R1614:Olfr1318	UTSW	2	112156517	missense	probably damaging	1.00
R1989:Olfr1318	UTSW	2	112156377	missense	probably benign	0.00
R2428:Olfr1318	UTSW	2	112156442	missense	probably benign	0.03
R2963:Olfr1318	UTSW	2	112156459	nonsense	probably null
R4868:Olfr1318	UTSW	2	112156571	missense	probably damaging	0.99
R4960:Olfr1318	UTSW	2	112156352	missense	probably benign	0.00
R5121:Olfr1318	UTSW	2	112156286	missense	possibly damaging	0.47
R6294:Olfr1318	UTSW	2	112156019	missense	probably benign
R6350:Olfr1318	UTSW	2	112156197	missense	probably damaging	0.99
R6515:Olfr1318	UTSW	2	112156365	missense	probably benign	0.00
R6722:Olfr1318	UTSW	2	112156882	missense	probably benign
R6829:Olfr1318	UTSW	2	112155794	intron	probably benign
R7186:Olfr1318	UTSW	2	112156162	missense	probably damaging	1.00
R7206:Olfr1318	UTSW	2	112156459	missense	probably damaging	1.00
R7444:Olfr1318	UTSW	2	112156715	missense	probably damaging	1.00
R8293:Olfr1318	UTSW	2	112156253	missense	probably benign	0.07
R8474:Olfr1318	UTSW	2	112155975	missense	probably benign
R8712:Olfr1318	UTSW	2	112156589	missense	probably damaging	1.00
R8749:Olfr1318	UTSW	2	112156524	missense	possibly damaging	0.60
R8888:Olfr1318	UTSW	2	112156629	missense	probably benign	0.00
R9223:Olfr1318	UTSW	2	112156128	missense	possibly damaging	0.58
R9406:Olfr1318	UTSW	2	112156298	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGCATCGCTACTCCAAAGATG -3'
(R):5'- GGCCATGGAGATGAAACCAC -3'

Sequencing Primer
(F):5'- CGCTACTCCAAAGATGATTTATGACC -3'
(R):5'- ACCAGGAACTCCAGTCTGTATGTG -3'

Posted On

2018-02-27