Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Olfr1423'

551024

Institutional Source

Beutler Lab

Gene Symbol

Olfr1423

Ensembl Gene

ENSMUSG00000067529

Gene Name

olfactory receptor 1423

Synonyms

MOR239-3, GA_x6K02T2RE5P-2393361-2392429

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12031787-12041317 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12036388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 118 (M118T)

Ref Sequence

ENSEMBL: ENSMUSP00000150649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087831] [ENSMUST00000214472]

AlphaFold

Q8VFV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000087831
AA Change: M118T

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

SMART Domains

Protein: ENSMUSP00000085134
Gene: ENSMUSG00000067529
AA Change: M118T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	2.7e-48	PFAM
Pfam:7tm_1	41	287	2.5e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214472
AA Change: M118T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,737,354	T294A	probably damaging	Het
Adamtsl2	G	A	2: 27,107,461	V893I	probably damaging	Het
Amph	T	A	13: 19,149,738	D656E	probably benign	Het
Aoah	T	C	13: 21,023,315	F568S	probably damaging	Het
Atr	G	A	9: 95,865,372	G236S	probably damaging	Het
Brd3	T	A	2: 27,450,394	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,141,977	E524G	probably damaging	Het
Cog2	T	C	8: 124,541,114		probably null	Het
Csnka2ip	C	A	16: 64,478,757	V415F	unknown	Het
Dmp1	A	T	5: 104,211,863	D135V	probably damaging	Het
Dtna	T	C	18: 23,653,379		probably null	Het
Endou	A	G	15: 97,718,929	S238P	probably damaging	Het
Ep400	T	A	5: 110,733,785	E779D	unknown	Het
Fcgbp	A	G	7: 28,084,962	E149G	probably benign	Het
G6pc	C	A	11: 101,374,587		probably null	Het
Gm13119	C	T	4: 144,363,727	R446C	probably benign	Het
Gm9573	C	A	17: 35,621,540	A585S	unknown	Het
Gmeb1	T	C	4: 132,234,868	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,401,606	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,254,511	G199D	probably benign	Het
Hoxb2	T	C	11: 96,353,621	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,325,074	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,540,583		probably null	Het
Kcnmb4	T	C	10: 116,473,259	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,077,785	Y89C	probably damaging	Het
Kif23	T	A	9: 61,919,892	K892N	probably damaging	Het
Lama3	T	A	18: 12,531,879	S646T	probably benign	Het
Lig3	T	A	11: 82,797,312	M709K	probably benign	Het
Mgea5	G	A	19: 45,783,166		probably benign	Het
Mindy3	C	A	2: 12,401,074	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,149,283	E569G	possibly damaging	Het
Misp	T	A	10: 79,827,165	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,601,410	T303S	probably damaging	Het
Msh3	T	G	13: 92,274,800	I630L	probably benign	Het
Myo16	A	G	8: 10,569,673	Y1408C	unknown	Het
N4bp2	T	C	5: 65,806,846	V746A	probably benign	Het
Olfr1225	A	G	2: 89,170,483	I243T	possibly damaging	Het
Olfr477	A	G	7: 107,990,598	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,596,351	M44I	probably null	Het
Pik3c2b	T	G	1: 133,105,974	L1572R	probably damaging	Het
Pilra	T	C	5: 137,831,226	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,573,631	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,066,655	D619G	probably benign	Het
Ptprb	T	A	10: 116,338,813	Y797N	probably damaging	Het
Rb1	T	C	14: 73,262,644	D521G	probably damaging	Het
Rnf17	T	G	14: 56,471,306	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,311,471	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,353,867	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,543,857	V634A	probably benign	Het
Spam1	A	G	6: 24,800,584	M441V	probably benign	Het
Teddm3	A	C	16: 21,152,979	L280*	probably null	Het
Tmem231	T	C	8: 111,918,885		probably null	Het
Tom1l1	T	C	11: 90,671,081		probably null	Het
Topors	C	T	4: 40,261,706	G526D	probably benign	Het
Trpm6	A	T	19: 18,813,547	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,774,428	M66L	probably benign	Het
Tubgcp6	A	G	15: 89,101,029	F1619L	probably damaging	Het
Vps13d	G	T	4: 145,115,492	A2619E		Het
Vps8	G	A	16: 21,526,441	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,800	M86L	probably benign	Het
Zfp64	A	T	2: 168,926,437	D418E	probably benign	Het
Zfp952	C	T	17: 33,003,632	P362S	possibly damaging	Het
Zglp1	T	C	9: 21,066,072	E149G	probably benign	Het

Other mutations in Olfr1423

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Olfr1423	APN	19	12035941	missense	probably benign	0.36
IGL01843:Olfr1423	APN	19	12036677	missense	probably benign
IGL01915:Olfr1423	APN	19	12036097	missense	probably damaging	1.00
IGL02283:Olfr1423	APN	19	12035855	missense	possibly damaging	0.87
IGL02807:Olfr1423	APN	19	12036284	missense	probably benign	0.12
IGL02976:Olfr1423	APN	19	12035973	nonsense	probably null
IGL03142:Olfr1423	APN	19	12036388	missense	probably damaging	1.00
R0326:Olfr1423	UTSW	19	12036161	missense	probably benign	0.00
R0369:Olfr1423	UTSW	19	12036401	missense	probably benign	0.01
R0614:Olfr1423	UTSW	19	12036565	missense	possibly damaging	0.93
R1940:Olfr1423	UTSW	19	12035911	missense	probably benign	0.06
R1978:Olfr1423	UTSW	19	12036341	missense	probably benign	0.06
R2013:Olfr1423	UTSW	19	12036154	missense	probably damaging	1.00
R2179:Olfr1423	UTSW	19	12036088	missense	probably damaging	1.00
R3972:Olfr1423	UTSW	19	12036019	missense	probably damaging	0.98
R5051:Olfr1423	UTSW	19	12035924	missense	possibly damaging	0.88
R5484:Olfr1423	UTSW	19	12035828	missense	probably benign	0.01
R5518:Olfr1423	UTSW	19	12036065	missense	probably damaging	0.97
R5729:Olfr1423	UTSW	19	12035908	missense	probably damaging	0.99
R6151:Olfr1423	UTSW	19	12036736	missense	probably benign	0.00
R6708:Olfr1423	UTSW	19	12036739	start codon destroyed	probably null	1.00
R6723:Olfr1423	UTSW	19	12036275	missense	probably damaging	1.00
R7385:Olfr1423	UTSW	19	12035999	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- GCAGGCAAGTTTGAGAACC -3'
(R):5'- ACACGCCCATGTACTTCCTG -3'

Sequencing Primer
(F):5'- TTGAGAACCTGTGGGACATCGC -3'
(R):5'- TGCTCCGAAACCTTGCCG -3'

Posted On

2019-05-15