Mutagenetix > Incidental Mutation

Incidental Mutation 'R8399:Or4a39'

647750

Institutional Source

Beutler Lab

Gene Symbol

Or4a39

Ensembl Gene

ENSMUSG00000111517

Gene Name

olfactory receptor family 4subfamily A member 39

Synonyms

GA_x6K02T2Q125-50849945-50848998, Olfr1238, MOR231-11

MMRRC Submission

067762-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R8399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89236474-89237421 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89237028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 132 (T132A)

Ref Sequence

ENSEMBL: ENSMUSP00000150447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099781] [ENSMUST00000217226] [ENSMUST00000217237]

AlphaFold

Q8VG59

Predicted Effect

probably benign
Transcript: ENSMUST00000099781
AA Change: T132A

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097369
Gene: ENSMUSG00000111517
AA Change: T132A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	7.7e-46	PFAM
Pfam:7TM_GPCR_Srsx	33	300	1.1e-5	PFAM
Pfam:7tm_1	39	285	6.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217226
AA Change: T132A

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000217237
AA Change: T132A

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,637,289 (GRCm39)	V3384D	possibly damaging	Het
Apba3	C	A	10: 81,104,832 (GRCm39)	T35N	probably benign	Het
Bcl6	T	C	16: 23,791,698 (GRCm39)	M219V	probably benign	Het
Bco2	T	A	9: 50,452,418 (GRCm39)	T217S	probably benign	Het
C1s1	C	T	6: 124,512,252 (GRCm39)	V277I	probably benign	Het
Ccdc162	T	A	10: 41,415,517 (GRCm39)	R2149W	probably damaging	Het
Cers6	T	C	2: 68,692,115 (GRCm39)	F46L	probably benign	Het
Chpf	T	C	1: 75,452,864 (GRCm39)	I359V	probably benign	Het
Chrnb4	A	C	9: 54,951,107 (GRCm39)	L52R	probably benign	Het
Cox6a1	T	C	5: 115,483,958 (GRCm39)	T95A	probably damaging	Het
Def8	T	A	8: 124,182,238 (GRCm39)	Y197*	probably null	Het
Dmbt1	C	G	7: 130,684,317 (GRCm39)	D778E	unknown	Het
Dnaaf3	C	T	7: 4,526,936 (GRCm39)		probably null	Het
Dnm1l	T	A	16: 16,139,536 (GRCm39)	H484L	probably damaging	Het
Eml1	G	A	12: 108,504,390 (GRCm39)	S783N	possibly damaging	Het
Frmd4a	T	C	2: 4,577,244 (GRCm39)	S367P	probably damaging	Het
Hck	A	C	2: 152,980,237 (GRCm39)	K355N	probably damaging	Het
Hexim2	G	T	11: 103,029,329 (GRCm39)	R127L	probably damaging	Het
Hivep2	T	C	10: 14,008,178 (GRCm39)	L1592P	possibly damaging	Het
Htr1d	G	A	4: 136,170,686 (GRCm39)	G305E	probably damaging	Het
Ifi207	G	A	1: 173,557,844 (GRCm39)	S298L	unknown	Het
Ighv1-11	A	G	12: 114,576,047 (GRCm39)	V56A	possibly damaging	Het
Ighv7-1	G	A	12: 113,860,532 (GRCm39)	T12I	unknown	Het
Kctd14	T	C	7: 97,106,811 (GRCm39)	L22P	probably damaging	Het
Klra17	T	C	6: 129,851,900 (GRCm39)		probably benign	Het
Kndc1	C	T	7: 139,493,434 (GRCm39)	R467W	probably damaging	Het
Maf	T	A	8: 116,433,251 (GRCm39)	I118F	unknown	Het
Mppe1	T	C	18: 67,358,946 (GRCm39)	T341A	probably benign	Het
Mtmr2	T	A	9: 13,703,363 (GRCm39)	V186E	probably benign	Het
Nedd9	G	T	13: 41,471,950 (GRCm39)	Y176*	probably null	Het
Omd	A	G	13: 49,743,345 (GRCm39)	I132V	possibly damaging	Het
Or12e10	A	C	2: 87,640,568 (GRCm39)	M135L	probably damaging	Het
Pcnx4	T	A	12: 72,620,985 (GRCm39)	M935K	probably benign	Het
Pecr	G	A	1: 72,306,624 (GRCm39)	T219I	probably benign	Het
Pkd1l3	C	T	8: 110,350,520 (GRCm39)	P455L	possibly damaging	Het
Plcg2	T	C	8: 118,323,101 (GRCm39)	Y719H	probably damaging	Het
Plk4	C	T	3: 40,763,265 (GRCm39)	R479*	probably null	Het
Pms1	T	A	1: 53,307,091 (GRCm39)		probably null	Het
Raph1	C	T	1: 60,528,477 (GRCm39)	S928N	unknown	Het
Rtp4	G	T	16: 23,339,164 (GRCm39)		probably benign	Het
Skor1	C	T	9: 63,052,440 (GRCm39)	V510I	possibly damaging	Het
Smg1	T	C	7: 117,789,794 (GRCm39)	T699A	unknown	Het
Tcp11l1	T	C	2: 104,515,720 (GRCm39)	D381G	probably benign	Het
Tnik	T	A	3: 28,548,159 (GRCm39)	M56K	unknown	Het
Trappc9	G	A	15: 72,924,131 (GRCm39)	R204C	probably damaging	Het
Trmt10b	A	T	4: 45,305,870 (GRCm39)	M184L	possibly damaging	Het
Vmn1r224	T	A	17: 20,640,011 (GRCm39)	I196N	probably damaging	Het
Vmn1r49	A	T	6: 90,049,689 (GRCm39)	C104*	probably null	Het
Vmn2r35	A	C	7: 7,819,897 (GRCm39)	S124R	probably benign	Het
Wdr62	T	C	7: 29,957,486 (GRCm39)	E547G	probably damaging	Het
Zfp68	A	T	5: 138,606,082 (GRCm39)	D80E	probably benign	Het

Other mutations in Or4a39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01326:Or4a39	APN	2	89,236,675 (GRCm39)	missense	possibly damaging	0.95
IGL01648:Or4a39	APN	2	89,236,535 (GRCm39)	missense	probably damaging	0.99
IGL03005:Or4a39	APN	2	89,237,315 (GRCm39)	missense	possibly damaging	0.95
R0450:Or4a39	UTSW	2	89,237,135 (GRCm39)	missense	probably damaging	0.99
R0469:Or4a39	UTSW	2	89,237,135 (GRCm39)	missense	probably damaging	0.99
R0510:Or4a39	UTSW	2	89,237,135 (GRCm39)	missense	probably damaging	0.99
R1983:Or4a39	UTSW	2	89,236,770 (GRCm39)	missense	probably benign	0.00
R4183:Or4a39	UTSW	2	89,236,935 (GRCm39)	missense	probably benign
R4737:Or4a39	UTSW	2	89,236,830 (GRCm39)	missense	probably benign	0.05
R4748:Or4a39	UTSW	2	89,236,599 (GRCm39)	missense	probably benign	0.02
R4749:Or4a39	UTSW	2	89,236,599 (GRCm39)	missense	probably benign	0.02
R4969:Or4a39	UTSW	2	89,236,770 (GRCm39)	missense	probably benign	0.00
R5047:Or4a39	UTSW	2	89,237,057 (GRCm39)	missense	probably damaging	1.00
R5992:Or4a39	UTSW	2	89,237,223 (GRCm39)	missense	probably benign	0.02
R6031:Or4a39	UTSW	2	89,237,316 (GRCm39)	missense	probably damaging	1.00
R6031:Or4a39	UTSW	2	89,237,316 (GRCm39)	missense	probably damaging	1.00
R6263:Or4a39	UTSW	2	89,237,074 (GRCm39)	missense	possibly damaging	0.80
R6416:Or4a39	UTSW	2	89,236,866 (GRCm39)	missense	possibly damaging	0.78
R7352:Or4a39	UTSW	2	89,236,806 (GRCm39)	missense	probably benign	0.00
R7515:Or4a39	UTSW	2	89,237,250 (GRCm39)	missense	possibly damaging	0.91
R7796:Or4a39	UTSW	2	89,237,157 (GRCm39)	missense	possibly damaging	0.73
R7893:Or4a39	UTSW	2	89,237,414 (GRCm39)	missense	probably benign	0.00
R8034:Or4a39	UTSW	2	89,237,081 (GRCm39)	missense	probably benign	0.44
R8694:Or4a39	UTSW	2	89,237,378 (GRCm39)	missense	probably damaging	1.00
R9085:Or4a39	UTSW	2	89,236,641 (GRCm39)	missense	probably damaging	0.99
R9486:Or4a39	UTSW	2	89,236,959 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- CATGCAAGTGTCAAGAGTGG -3'
(R):5'- ACAGTGATTGCCAGTCCCTC -3'

Sequencing Primer
(F):5'- TGTCAAGAGTGGGTACATGTCAC -3'
(R):5'- CAATCATGGATGCTGTTTATTCCAC -3'

Posted On

2020-09-02