Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Olfr1230'

503821

Institutional Source

Beutler Lab

Gene Symbol

Olfr1230

Ensembl Gene

ENSMUSG00000075094

Gene Name

olfactory receptor 1230

Synonyms

GA_x6K02T2Q125-50741934-50741017, MOR237-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89296351-89297268 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89296962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 103 (H103N)

Ref Sequence

ENSEMBL: ENSMUSP00000097375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099787] [ENSMUST00000216144]

AlphaFold

Q8VG58

Predicted Effect

probably damaging
Transcript: ENSMUST00000099787
AA Change: H103N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097375
Gene: ENSMUSG00000075094
AA Change: H103N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	5.7e-44	PFAM
Pfam:7tm_1	39	285	6.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216144

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
Olfr131	A	G	17: 38,082,729	M83T	probably damaging	Het
Olfr1318	T	C	2: 112,156,356	I135T	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 Olfr1230

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Olfr1230	APN	2	89296455	missense	probably benign	0.40
IGL01419:Olfr1230	APN	2	89296345	unclassified	probably benign
IGL01644:Olfr1230	APN	2	89296632	missense	probably benign	0.01
IGL01653:Olfr1230	APN	2	89297127	missense	probably benign	0.08
IGL01674:Olfr1230	APN	2	89296670	missense	probably damaging	1.00
IGL02124:Olfr1230	APN	2	89297063	missense	probably benign	0.01
IGL03053:Olfr1230	APN	2	89296445	missense	probably damaging	0.97
R0504:Olfr1230	UTSW	2	89296739	missense	probably damaging	0.99
R1473:Olfr1230	UTSW	2	89296906	nonsense	probably null
R1742:Olfr1230	UTSW	2	89296424	missense	probably damaging	1.00
R1899:Olfr1230	UTSW	2	89296670	missense	probably damaging	1.00
R1900:Olfr1230	UTSW	2	89296670	missense	probably damaging	1.00
R1945:Olfr1230	UTSW	2	89296784	missense	probably damaging	1.00
R2935:Olfr1230	UTSW	2	89297260	missense	possibly damaging	0.69
R3421:Olfr1230	UTSW	2	89296553	missense	probably benign	0.03
R5185:Olfr1230	UTSW	2	89296387	missense	probably benign
R5377:Olfr1230	UTSW	2	89297162	missense	probably damaging	0.99
R5400:Olfr1230	UTSW	2	89296913	missense	probably damaging	1.00
R6083:Olfr1230	UTSW	2	89297024	missense	probably damaging	1.00
R6086:Olfr1230	UTSW	2	89296854	missense	probably damaging	1.00
R6155:Olfr1230	UTSW	2	89296421	missense	probably damaging	1.00
R6361:Olfr1230	UTSW	2	89296646	missense	probably damaging	0.98
R8053:Olfr1230	UTSW	2	89297196	missense	possibly damaging	0.69
R8905:Olfr1230	UTSW	2	89296457	missense	possibly damaging	0.89
Z1176:Olfr1230	UTSW	2	89296953	missense	probably damaging	1.00
Z1177:Olfr1230	UTSW	2	89296452	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- TGGGACCACAGAAAGGTATTTGATAC -3'
(R):5'- GTGGCCACACTTTTGGGAAAC -3'

Sequencing Primer
(F):5'- TACATAAAGAGCAGCTGAATGGTTCC -3'
(R):5'- GGAAACCTACTGATCATTGTAACTG -3'

Posted On

2018-02-27