Mutagenetix > Incidental Mutation

Incidental Mutation 'R8037:Or4a70'

618273

Institutional Source

Beutler Lab

Gene Symbol

Or4a70

Ensembl Gene

ENSMUSG00000075085

Gene Name

olfactory receptor family 4 subfamily A member 70

Synonyms

GA_x6K02T2Q125-50937307-50936387, Olfr1242, MOR231-5

MMRRC Submission

067474-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R8037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89323638-89324690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89324055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 200 (N200K)

Ref Sequence

ENSEMBL: ENSMUSP00000107165 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099777] [ENSMUST00000111540] [ENSMUST00000143935] [ENSMUST00000216001]

AlphaFold

Q8VGM6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099777
AA Change: N200K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097365
Gene: ENSMUSG00000075085
AA Change: N200K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.8e-43	PFAM
Pfam:7TM_GPCR_Srsx	33	300	3.4e-5	PFAM
Pfam:7tm_1	39	285	1.6e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111540
AA Change: N200K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107165
Gene: ENSMUSG00000075085
AA Change: N200K

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	33	300	3.4e-5	PFAM
Pfam:7tm_1	39	285	1.5e-26	PFAM
Pfam:7tm_4	137	278	5.3e-36	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143935
AA Change: N200K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216001
AA Change: N200K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,243,904 (GRCm39)	W1922C	probably damaging	Het
Acad11	T	A	9: 103,953,035 (GRCm39)	I88N	possibly damaging	Het
Adgrf3	A	T	5: 30,404,510 (GRCm39)	C309S	probably damaging	Het
Ankhd1	T	A	18: 36,771,676 (GRCm39)	V1343E	probably damaging	Het
Aqr	A	T	2: 113,992,161 (GRCm39)	Y72N	probably damaging	Het
Bptf	T	C	11: 106,946,776 (GRCm39)	T2339A	probably damaging	Het
Ccdc121rt3	A	G	5: 112,502,882 (GRCm39)	V274A	probably benign	Het
Ccr8	T	C	9: 119,923,436 (GRCm39)	F184L	probably benign	Het
Dbh	A	G	2: 27,055,700 (GRCm39)	D58G	probably damaging	Het
Depdc5	T	C	5: 33,116,692 (GRCm39)		probably null	Het
Dhdds	G	A	4: 133,724,158 (GRCm39)	T52I	probably benign	Het
Dnmt1	A	C	9: 20,852,860 (GRCm39)	V82G	probably damaging	Het
Efemp2	C	T	19: 5,530,141 (GRCm39)	Q290*	probably null	Het
Eipr1	A	G	12: 28,914,676 (GRCm39)	S277G	probably benign	Het
Fam110b	A	G	4: 5,799,511 (GRCm39)	I310V	possibly damaging	Het
Foxn4	T	C	5: 114,394,658 (GRCm39)	D423G	probably damaging	Het
Fsip2	T	A	2: 82,816,322 (GRCm39)	N4018K	possibly damaging	Het
Gm12887	T	A	4: 121,472,887 (GRCm39)	D85V	probably damaging	Het
Gys2	A	G	6: 142,394,119 (GRCm39)	V473A	probably benign	Het
Hnrnpu	A	T	1: 178,159,917 (GRCm39)	F388Y	unknown	Het
Hoxa5	A	G	6: 52,181,309 (GRCm39)	S8P	probably damaging	Het
Ier5	A	T	1: 154,975,175 (GRCm39)	M1K	probably null	Het
Ighv1-52	A	G	12: 115,109,210 (GRCm39)	F83S	probably damaging	Het
Lrch1	T	C	14: 75,023,794 (GRCm39)	D577G	probably damaging	Het
Lrrk1	A	T	7: 65,935,089 (GRCm39)	M1010K	probably benign	Het
Mttp	T	G	3: 137,796,883 (GRCm39)	N873T	probably damaging	Het
Nphs2	A	G	1: 156,138,400 (GRCm39)	R15G	possibly damaging	Het
Or5d16	T	C	2: 87,773,319 (GRCm39)	T218A	probably benign	Het
Or8d6	T	A	9: 39,854,177 (GRCm39)	V207D	probably damaging	Het
Pcdhga8	T	C	18: 37,860,071 (GRCm39)	S376P	probably damaging	Het
Pde3a	A	G	6: 141,429,650 (GRCm39)	N737S	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pgap6	T	C	17: 26,336,509 (GRCm39)	L209P	possibly damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Rin1	T	A	19: 5,101,852 (GRCm39)	L179Q	probably damaging	Het
Sec63	T	A	10: 42,659,483 (GRCm39)	M57K	probably benign	Het
Senp2	C	T	16: 21,832,888 (GRCm39)	Q59*	probably null	Het
St8sia5	G	A	18: 77,336,238 (GRCm39)	V224I	possibly damaging	Het
Sycp2	A	T	2: 178,045,571 (GRCm39)	D16E	probably damaging	Het
Tab1	A	G	15: 80,044,471 (GRCm39)	T500A	probably benign	Het
Tead1	A	G	7: 112,358,727 (GRCm39)	D13G	possibly damaging	Het
Tecpr2	T	C	12: 110,902,854 (GRCm39)	F860L	probably benign	Het
Tg	A	G	15: 66,560,724 (GRCm39)	M1029V	probably benign	Het
Tnni2	A	G	7: 141,997,691 (GRCm39)	R109G	probably damaging	Het
Unc79	A	G	12: 103,016,178 (GRCm39)	K320R	probably damaging	Het
Vmn1r9	T	A	6: 57,047,988 (GRCm39)	V21D	probably benign	Het
Zfp64	A	G	2: 168,741,932 (GRCm39)	F332S	probably damaging	Het

Other mutations in Or4a70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01094:Or4a70	APN	2	89,324,182 (GRCm39)	missense	probably benign	0.03
IGL01573:Or4a70	APN	2	89,324,545 (GRCm39)	missense	probably damaging	0.99
IGL02707:Or4a70	APN	2	89,324,171 (GRCm39)	missense	probably damaging	1.00
IGL02731:Or4a70	APN	2	89,323,801 (GRCm39)	missense	probably damaging	1.00
IGL03253:Or4a70	APN	2	89,324,143 (GRCm39)	missense	possibly damaging	0.80
IGL03412:Or4a70	APN	2	89,324,555 (GRCm39)	missense	probably benign	0.02
R2012:Or4a70	UTSW	2	89,324,342 (GRCm39)	missense	probably benign	0.14
R5386:Or4a70	UTSW	2	89,324,481 (GRCm39)	nonsense	probably null
R5627:Or4a70	UTSW	2	89,324,388 (GRCm39)	missense	probably benign	0.03
R5735:Or4a70	UTSW	2	89,323,812 (GRCm39)	missense	probably damaging	1.00
R6216:Or4a70	UTSW	2	89,324,066 (GRCm39)	missense	probably damaging	1.00
R6787:Or4a70	UTSW	2	89,324,378 (GRCm39)	nonsense	probably null
R6898:Or4a70	UTSW	2	89,324,594 (GRCm39)	missense	possibly damaging	0.87
R7375:Or4a70	UTSW	2	89,324,036 (GRCm39)	missense	possibly damaging	0.86
R7481:Or4a70	UTSW	2	89,324,636 (GRCm39)	missense	probably benign	0.23
R8026:Or4a70	UTSW	2	89,324,132 (GRCm39)	missense	probably damaging	1.00
R8694:Or4a70	UTSW	2	89,324,171 (GRCm39)	missense	possibly damaging	0.60
R9676:Or4a70	UTSW	2	89,323,780 (GRCm39)	missense	probably damaging	0.99
Z1177:Or4a70	UTSW	2	89,324,328 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- TATCCACTGGAAAGTTGGAGAC -3'
(R):5'- GACCATCATGAACCAGAGGG -3'

Sequencing Primer
(F):5'- CTGGAAAGTTGGAGACAGGTCTAGC -3'
(R):5'- CCAGAGGGTGTGCATTCTTC -3'

Posted On

2020-01-23