Mutagenetix > Incidental Mutations

Incidental Mutation 'R7255:Olfr1123'

564181

Institutional Source

Beutler Lab

Gene Symbol

Olfr1123

Ensembl Gene

ENSMUSG00000043274

Gene Name

olfactory receptor 1123

Synonyms

MOR264-17, GA_x6K02T2Q125-48917235-48918206

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R7255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87416635-87423211 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87418942 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 296 (L296Q)

Ref Sequence

ENSEMBL: ENSMUSP00000154459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054974] [ENSMUST00000216208]

AlphaFold

A2AT85

Predicted Effect

probably damaging
Transcript: ENSMUST00000054974
AA Change: L298Q

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058786
Gene: ENSMUSG00000043274
AA Change: L298Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	44	321	4.4e-52	PFAM
Pfam:7tm_1	54	303	2.6e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216208
AA Change: L296Q

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	G	A	11: 23,620,465	P145L	probably benign	Het
9530003J23Rik	T	C	10: 117,234,422	H150R	probably benign	Het
Aldh1a7	A	G	19: 20,714,728	S234P	probably damaging	Het
Arhgap28	T	C	17: 67,853,004	H650R	probably damaging	Het
Asic1	A	G	15: 99,697,457	D355G	probably damaging	Het
Atp8b1	T	A	18: 64,556,868	S598C	probably damaging	Het
Bcat1	C	A	6: 145,032,785	E237*	probably null	Het
Btbd16	A	T	7: 130,785,992	I114F	probably benign	Het
Casp2	A	G	6: 42,268,907	D166G	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cpsf1	G	A	15: 76,597,543	T1099M	probably damaging	Het
Crisp4	C	A	1: 18,130,231	A116S	probably damaging	Het
Cyb5r3	A	G	15: 83,160,165	I168T	probably damaging	Het
Dip2b	G	A	15: 100,209,627	D1407N	probably benign	Het
Dnajc8	A	G	4: 132,551,573	K201R	probably benign	Het
Dock10	C	T	1: 80,543,099		probably null	Het
Dopey2	C	A	16: 93,770,146	H1272N	probably damaging	Het
Dsc1	C	T	18: 20,097,273	R325Q	probably benign	Het
Enpp1	A	T	10: 24,645,315	I838K	possibly damaging	Het
Fcna	T	G	2: 25,626,028	D159A	probably damaging	Het
Flnc	G	T	6: 29,445,766	G840C	probably damaging	Het
Flt1	C	T	5: 147,580,406	A1024T	probably damaging	Het
Galc	T	C	12: 98,246,255	K207R	probably null	Het
Gbp2b	T	A	3: 142,608,117	L386Q	probably damaging	Het
Gm8297	T	A	14: 4,984,874	N48K	probably damaging	Het
Gm9639	G	A	10: 77,794,538	P180L	unknown	Het
Inpp5a	A	G	7: 139,511,448	N116S	probably damaging	Het
Ipo9	T	C	1: 135,385,988	E984G	probably benign	Het
Klra4	A	G	6: 130,059,642	F145L	probably damaging	Het
Lag3	A	G	6: 124,910,235	L123P	probably benign	Het
Med7	T	A	11: 46,440,995	M139K	probably damaging	Het
Mfsd2a	A	C	4: 122,952,021	L153R	possibly damaging	Het
Mup9	A	G	4: 60,421,337	V71A	probably benign	Het
Myo16	A	T	8: 10,499,169	Q927L	unknown	Het
Myo9b	T	C	8: 71,290,891	Y199H	probably damaging	Het
Nefm	A	G	14: 68,116,000	F406L	probably benign	Het
Olfr1333	A	T	4: 118,829,952	F162I	probably benign	Het
Pamr1	T	C	2: 102,611,584	F173L	probably damaging	Het
Pds5b	T	A	5: 150,796,667	D1205E	probably benign	Het
Plxna2	T	G	1: 194,752,103	F646V	probably benign	Het
Pnrc1	C	T	4: 33,248,045	G118D	probably benign	Het
Ppp1r16b	T	C	2: 158,761,391	F412S	probably benign	Het
Prcc	A	T	3: 87,870,091	V192E	probably damaging	Het
Psg19	A	G	7: 18,794,048	Y257H	probably benign	Het
Rfx7	T	G	9: 72,619,828	S1433R	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Sbspon	G	T	1: 15,883,797	C86*	probably null	Het
Sdhb	A	G	4: 140,977,418	E230G	possibly damaging	Het
Sema6b	T	C	17: 56,125,336	T581A	probably benign	Het
Shkbp1	G	T	7: 27,342,748	T594K	possibly damaging	Het
Shpk	A	G	11: 73,199,660	S48G	probably benign	Het
Slc1a3	A	G	15: 8,642,999	V332A	possibly damaging	Het
Slc25a25	T	C	2: 32,421,372	E135G	possibly damaging	Het
Slc5a8	A	T	10: 88,909,631	D367V	probably damaging	Het
Slco1c1	A	G	6: 141,569,325	T649A	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spats1	T	A	17: 45,454,205	D163V	probably damaging	Het
Ssh2	T	A	11: 77,425,593	M304K	probably damaging	Het
Sulf1	T	A	1: 12,859,008	D166E	probably benign	Het
Syne1	A	G	10: 5,333,446	S1540P	probably damaging	Het
Tcf7l1	A	T	6: 72,627,347		probably null	Het
Tet1	A	T	10: 62,822,636	M1477K	probably benign	Het
Tlr5	T	C	1: 182,974,316	F395S	probably damaging	Het
Trrap	T	C	5: 144,858,954	L3847P	probably damaging	Het
Tsks	C	T	7: 44,952,688	S276L	probably benign	Het
Uggt1	T	C	1: 36,146,106	E1519G	probably damaging	Het
Vps13a	A	G	19: 16,654,339		probably null	Het
Wdfy4	A	G	14: 32,974,282	V2768A		Het
Wdr26	A	C	1: 181,181,324	I627R	probably benign	Het
Zfp160	T	A	17: 21,025,487	S100T	probably benign	Het

Other mutations in Olfr1123

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Olfr1123	APN	2	87418566	missense	possibly damaging	0.75
IGL01067:Olfr1123	APN	2	87418370	missense	probably benign	0.00
IGL01526:Olfr1123	APN	2	87418975	missense	probably damaging	0.99
IGL01580:Olfr1123	APN	2	87418536	missense	probably benign	0.06
IGL01986:Olfr1123	APN	2	87418536	missense	probably benign	0.00
IGL02503:Olfr1123	APN	2	87418292	missense	probably benign	0.03
IGL02527:Olfr1123	APN	2	87418837	missense	probably damaging	1.00
IGL02731:Olfr1123	APN	2	87418707	missense	probably benign	0.00
IGL03215:Olfr1123	APN	2	87418068	missense	probably benign	0.05
IGL03366:Olfr1123	APN	2	87418243	missense	possibly damaging	0.88
R0645:Olfr1123	UTSW	2	87418268	nonsense	probably null
R1857:Olfr1123	UTSW	2	87418648	missense	probably damaging	1.00
R2175:Olfr1123	UTSW	2	87418156	missense	probably damaging	1.00
R3691:Olfr1123	UTSW	2	87418170	missense	probably benign	0.20
R4082:Olfr1123	UTSW	2	87418457	nonsense	probably null
R4635:Olfr1123	UTSW	2	87418699	missense	probably benign	0.05
R4877:Olfr1123	UTSW	2	87418563	nonsense	probably null
R5190:Olfr1123	UTSW	2	87418843	missense	probably damaging	1.00
R5253:Olfr1123	UTSW	2	87418668	missense	possibly damaging	0.64
R6266:Olfr1123	UTSW	2	87419006	missense	probably benign	0.01
R6784:Olfr1123	UTSW	2	87418452	missense	probably benign	0.20
R6909:Olfr1123	UTSW	2	87418615	missense	probably damaging	1.00
R8076:Olfr1123	UTSW	2	87418545	missense	probably benign	0.00
R8116:Olfr1123	UTSW	2	87418737	missense	probably damaging	1.00
R8315:Olfr1123	UTSW	2	87418651	missense	probably damaging	1.00
R8888:Olfr1123	UTSW	2	87418315	missense	probably benign	0.00
R8895:Olfr1123	UTSW	2	87418315	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGAAACTGTCATCAGCCAAAG -3'
(R):5'- TGGAAGCCCTGTATTAAAGTGTG -3'

Sequencing Primer
(F):5'- GGAAGGACCAAAGCTTTCTCC -3'
(R):5'- TTGTAAGACAAAATGTAGGCGGTTAC -3'

Posted On

2019-06-26