Mutagenetix > Incidental Mutation

Incidental Mutation 'R6915:Olfr1428'

539317

Institutional Source

Beutler Lab

Gene Symbol

Olfr1428

Ensembl Gene

ENSMUSG00000067524

Gene Name

olfactory receptor 1428

Synonyms

GA_x6K02T2RE5P-2468394-2467450, MOR239-5

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R6915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12107716-12115897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12109126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 140 (V140A)

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: V140A

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000085126
Gene: ENSMUSG00000067524
AA Change: V140A

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

probably benign
Transcript: ENSMUST00000208391

Predicted Effect

probably benign
Transcript: ENSMUST00000214103
AA Change: V140A

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

97% (63/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	C	A	12: 88,455,620	L334I	probably damaging	Het
Akap9	T	A	5: 3,960,551	M436K	probably benign	Het
Ankmy1	A	C	1: 92,888,451	F314V	probably null	Het
Arid5b	G	A	10: 68,186,212	Q183*	probably null	Het
Atp8b4	A	T	2: 126,358,914	L778*	probably null	Het
BC024139	G	T	15: 76,120,021	N739K	probably benign	Het
Carns1	T	G	19: 4,169,913	H441P	probably benign	Het
Cfap70	T	A	14: 20,409,085	I693F	probably benign	Het
Cldn3	A	G	5: 134,986,572	Q43R	probably damaging	Het
Col7a1	C	T	9: 108,967,618	P1608L	probably benign	Het
Cr2	T	A	1: 195,171,146	Y28F	probably benign	Het
Cyp2c38	T	A	19: 39,436,068	I269F	probably damaging	Het
Dapk1	A	T	13: 60,696,442	I92F	probably damaging	Het
Dennd4a	T	A	9: 64,852,489	L292*	probably null	Het
Dhx38	T	C	8: 109,559,599	E353G	probably benign	Het
Dnm3	T	C	1: 162,318,397		probably null	Het
Dzip3	T	C	16: 48,942,125	I794V	possibly damaging	Het
Eif2b5	T	A	16: 20,502,750	V351D	possibly damaging	Het
Epg5	T	A	18: 77,979,165	V1041E	probably benign	Het
Exoc4	A	G	6: 33,921,453	K869R	possibly damaging	Het
Fat3	C	A	9: 16,377,748	V160F	probably benign	Het
Gak	A	T	5: 108,602,950	Y365N	probably benign	Het
Ghrhr	T	A	6: 55,383,119		probably null	Het
Gm21738	A	G	14: 19,415,933	M202T	probably benign	Het
Gm6583	A	T	5: 112,354,657	W394R	probably damaging	Het
Havcr2	C	T	11: 46,475,911	S177L	probably benign	Het
Hkdc1	G	C	10: 62,401,932	R353G	possibly damaging	Het
Ifi208	G	A	1: 173,682,878	G200S	probably damaging	Het
Klhl20	T	C	1: 161,093,696	D63G	possibly damaging	Het
Lair1	A	T	7: 4,055,953	V12E	possibly damaging	Het
Lipo3	T	C	19: 33,584,893	N26D	probably damaging	Het
Lyst	T	A	13: 13,726,044	D3168E	probably benign	Het
Map6	G	A	7: 99,268,247	A76T	probably damaging	Het
Mcoln3	A	T	3: 146,137,256		probably null	Het
Muc4	T	C	16: 32,766,938	F2718L	probably benign	Het
Nek11	C	G	9: 105,393,057		probably benign	Het
Olfr372	C	A	8: 72,057,730	L17I	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,536	E136G	unknown	Het
Pcdh15	A	T	10: 74,643,809	E846V	probably benign	Het
Pcdhga8	C	T	18: 37,725,945	T18M	probably benign	Het
Per3	T	C	4: 151,043,649	M61V	possibly damaging	Het
Pfas	C	T	11: 68,992,181	R759Q	probably benign	Het
Pitpnm1	A	G	19: 4,106,947	Y490C	possibly damaging	Het
Plcb4	A	T	2: 135,947,115	I272F	possibly damaging	Het
Ppp1r3b	A	G	8: 35,384,667	Y220C	probably damaging	Het
Prkce	G	C	17: 86,493,407	G417A	probably damaging	Het
Ptar1	A	G	19: 23,703,137	N106D	probably damaging	Het
Rbm15	C	A	3: 107,332,311	R257L	probably benign	Het
Rptor	T	G	11: 119,756,345	M254R	probably damaging	Het
Runx1t1	T	A	4: 13,865,257	W350R	probably damaging	Het
Ryr2	T	G	13: 11,745,601	Y1532S	probably damaging	Het
Serpina1a	C	A	12: 103,853,851	V379L	possibly damaging	Het
Sox8	C	T	17: 25,567,914	V272I	probably damaging	Het
Spert	T	A	14: 75,592,658	T32S	probably benign	Het
Stard9	C	T	2: 120,702,630	H3123Y	probably benign	Het
Taar9	C	T	10: 24,109,012	E175K	possibly damaging	Het
Tinag	T	A	9: 77,001,615	Y348F	probably damaging	Het
Tktl2	T	C	8: 66,513,035	I415T	probably damaging	Het
Tm7sf2	G	T	19: 6,068,312	R718S	probably damaging	Het
Tmem229a	G	T	6: 24,954,658	Q366K	probably benign	Het
Txndc2	T	C	17: 65,638,291	D297G	probably benign	Het
Ulk4	A	G	9: 121,258,820	F269L	probably benign	Het
Vps39	A	T	2: 120,321,031	Y738*	probably null	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
R1169:Olfr1428	UTSW	19	12109489	missense	probably benign
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
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

PCR Primer
(F):5'- AACAGGGTTACCAGGCCATTG -3'
(R):5'- TCACAGTCCCCAAGTTCCTG -3'

Sequencing Primer
(F):5'- ACCAGGCCATTGTTGGAGATC -3'
(R):5'- CCCAAGTTCCTGGTGGATC -3'

Posted On

2018-11-06