Mutagenetix > Incidental Mutation

Incidental Mutation 'R1169:Olfr1428'

101575

Institutional Source

Beutler Lab

Gene Symbol

Olfr1428

Ensembl Gene

ENSMUSG00000067524

Gene Name

olfactory receptor 1428

Synonyms

GA_x6K02T2RE5P-2468394-2467450, MOR239-5

MMRRC Submission

039242-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R1169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12107716-12115897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12109489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 19 (R19H)

Ref Sequence

ENSEMBL: ENSMUSP00000150097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087824] [ENSMUST00000208391] [ENSMUST00000214103]

AlphaFold

Q0VDY1

Predicted Effect

probably benign
Transcript: ENSMUST00000087824
AA Change: R19H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085126
Gene: ENSMUSG00000067524
AA Change: R19H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	4.1e-43	PFAM
Pfam:7TM_GPCR_Srsx	35	305	6.2e-6	PFAM
Pfam:7tm_1	41	303	2.9e-20	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000208391
AA Change: R19H

Predicted Effect

probably benign
Transcript: ENSMUST00000214103
AA Change: R19H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	A	G	2: 23,256,982	K275E	possibly damaging	Het
Abhd17a	T	C	10: 80,583,947	E275G	probably damaging	Het
Adam10	T	A	9: 70,746,292	I123N	probably damaging	Het
Adam8	A	T	7: 139,983,929	L715Q	probably benign	Het
Adcyap1r1	T	A	6: 55,494,116	F418L	probably damaging	Het
Ankrd50	A	T	3: 38,454,252	I1322K	probably damaging	Het
Arid4a	G	A	12: 71,075,338	S509N	probably benign	Het
Atxn7	T	C	14: 14,095,468	S389P	possibly damaging	Het
C4b	A	T	17: 34,742,972	L100Q	probably benign	Het
Cacul1	G	A	19: 60,580,408	A104V	probably damaging	Het
Camsap3	T	C	8: 3,603,866	F512S	probably damaging	Het
Casp1	T	C	9: 5,299,454	V61A	possibly damaging	Het
Chd1	T	A	17: 15,735,732	F531Y	probably damaging	Het
Clec2h	C	T	6: 128,674,795	Q156*	probably null	Het
Clip2	T	A	5: 134,492,250	E978V	probably benign	Het
Cnpy2	T	G	10: 128,323,596	L34R	probably damaging	Het
Cog6	A	T	3: 53,013,844	C114S	probably benign	Het
Col6a3	A	T	1: 90,822,014	V366E	possibly damaging	Het
Col6a5	A	G	9: 105,896,974		probably null	Het
Dmbt1	G	A	7: 131,074,524		probably null	Het
Dok1	A	G	6: 83,032,048	F218L	possibly damaging	Het
Dph7	T	A	2: 24,966,571	N178K	probably benign	Het
Enam	A	T	5: 88,503,258	E800D	probably damaging	Het
Fads3	A	T	19: 10,054,099	Q205L	possibly damaging	Het
Fbxo44	T	C	4: 148,155,976	H265R	probably benign	Het
Gli1	T	A	10: 127,338,451	S24C	probably damaging	Het
Gm4894	T	A	9: 49,274,226	C43*	probably null	Het
Gpbp1l1	C	T	4: 116,574,366	H74Y	possibly damaging	Het
H2-Eb2	T	A	17: 34,333,357	F59I	possibly damaging	Het
Hspa14	T	C	2: 3,498,124	N211S	possibly damaging	Het
Ifnlr1	T	G	4: 135,705,108	F285C	probably benign	Het
Igf1r	G	T	7: 68,165,127	V259L	probably benign	Het
Igf2bp2	A	T	16: 22,078,730	Y244*	probably null	Het
Ighg2c	A	T	12: 113,285,952		probably benign	Het
Ighv8-14	A	T	12: 115,808,455		probably null	Het
Iqsec2	A	G	X: 152,144,731	S87G	probably benign	Het
Itsn2	A	G	12: 4,639,694	K589R	probably damaging	Het
Khdc1a	A	C	1: 21,350,271	E38D	possibly damaging	Het
Krt42	T	G	11: 100,263,345		probably null	Het
Lman1l	T	C	9: 57,609,995	T369A	probably damaging	Het
Lpo	T	C	11: 87,817,317	N183S	possibly damaging	Het
Lrrc3	T	A	10: 77,900,930	Y224F	probably damaging	Het
Ly6g6f	T	A	17: 35,083,264	D99V	probably damaging	Het
Lyplal1	T	C	1: 186,114,334	I42V	probably benign	Het
Mis18bp1	G	A	12: 65,143,283	Q793*	probably null	Het
Myh10	T	G	11: 68,762,841	M346R	probably damaging	Het
Nav1	G	T	1: 135,455,205	H1256Q	probably damaging	Het
Nbea	A	G	3: 55,968,323	V1642A	probably benign	Het
Olfr1066	A	G	2: 86,455,587	I228T	possibly damaging	Het
Olfr1104	A	G	2: 87,021,717	F276L	probably damaging	Het
Olfr870	T	C	9: 20,171,058	N171S	probably benign	Het
Orm3	G	A	4: 63,357,848	V166M	probably damaging	Het
Oxct1	T	A	15: 4,091,226	I264N	probably damaging	Het
Paox	G	A	7: 140,126,331	V55I	probably benign	Het
Pde4d	C	A	13: 109,950,928		probably null	Het
Pnliprp1	A	G	19: 58,734,951	N258S	probably damaging	Het
Prl7b1	C	A	13: 27,606,904	R66L	possibly damaging	Het
Ptpre	G	T	7: 135,667,612	C261F	probably benign	Het
Rho	C	G	6: 115,932,238	N78K	probably damaging	Het
Rnf17	A	G	14: 56,514,165	N1487D	possibly damaging	Het
Ryr3	G	A	2: 112,733,014	T2922I	probably benign	Het
Saxo2	A	C	7: 82,635,171	F160V	possibly damaging	Het
Sbf2	A	T	7: 110,310,184	Y1786N	probably benign	Het
Sdad1	A	T	5: 92,298,233	V280E	probably benign	Het
Sgsm1	T	C	5: 113,279,485	D90G	probably damaging	Het
Siglec1	A	T	2: 131,074,827	D1169E	probably damaging	Het
Sim1	T	A	10: 50,981,522	V456E	probably benign	Het
Skint8	T	A	4: 111,928,513	I52N	possibly damaging	Het
Slc27a1	C	A	8: 71,580,653	R280S	probably benign	Het
Slc9a3	G	A	13: 74,150,743	V94I	probably damaging	Het
Sorcs2	C	A	5: 36,027,925	V936L	possibly damaging	Het
Syce1	A	G	7: 140,778,207	F255S	probably benign	Het
Tmc7	G	A	7: 118,551,260	S350L	probably benign	Het
Tmem200a	T	A	10: 25,994,348	I8F	probably damaging	Het
Trip6	T	C	5: 137,311,920	H322R	probably benign	Het
Vmn2r72	A	T	7: 85,751,309	N177K	probably benign	Het
Wdr66	GGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGA	5: 123,254,610		probably benign	Het

Other mutations in Olfr1428

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03062:Olfr1428	APN	19	12109148	missense	probably benign	0.00
BB006:Olfr1428	UTSW	19	12108754	missense	unknown
BB016:Olfr1428	UTSW	19	12108754	missense	unknown
IGL02796:Olfr1428	UTSW	19	12108884	missense	possibly damaging	0.85
PIT4495001:Olfr1428	UTSW	19	12108712	missense	possibly damaging	0.65
R0541:Olfr1428	UTSW	19	12109520	missense	possibly damaging	0.85
R1918:Olfr1428	UTSW	19	12109507	missense	probably benign	0.06
R2915:Olfr1428	UTSW	19	12108625	missense	probably benign	0.09
R3835:Olfr1428	UTSW	19	12109400	missense	possibly damaging	0.92
R4470:Olfr1428	UTSW	19	12109183	splice site	probably null
R4682:Olfr1428	UTSW	19	12108685	missense	probably damaging	1.00
R4751:Olfr1428	UTSW	19	12109177	missense	probably damaging	1.00
R5467:Olfr1428	UTSW	19	12108659	missense	probably benign	0.20
R5513:Olfr1428	UTSW	19	12109381	missense	probably damaging	1.00
R6915:Olfr1428	UTSW	19	12109126	missense	probably benign	0.25
R7385:Olfr1428	UTSW	19	12108697	missense	probably damaging	1.00
R7569:Olfr1428	UTSW	19	12109021	missense	possibly damaging	0.77
R7929:Olfr1428	UTSW	19	12108754	missense	unknown
R8442:Olfr1428	UTSW	19	12108727	missense	probably damaging	1.00
R9215:Olfr1428	UTSW	19	12108652	missense	probably damaging	1.00
R9467:Olfr1428	UTSW	19	12108949	missense	possibly damaging	0.56
R9753:Olfr1428	UTSW	19	12108692	missense	probably benign	0.02

Predicted Primers

Posted On

2014-01-15