Mutagenetix > Incidental Mutation

Incidental Mutation 'R0450:Or4a39'

39578

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

038650-MU

Accession Numbers

Essential gene?

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

Stock #

R0450 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89236474-89237421 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89237135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 96 (M96K)

Ref Sequence

ENSEMBL: ENSMUSP00000150367 (fasta)

Gene Model

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

AlphaFold

Q8VG59

Predicted Effect

probably damaging
Transcript: ENSMUST00000099781
AA Change: M96K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097369
Gene: ENSMUSG00000111517
AA Change: M96K

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

noncoding transcript
Transcript: ENSMUST00000215283

Predicted Effect

probably damaging
Transcript: ENSMUST00000217226
AA Change: M96K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217237
AA Change: M96K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 94.2%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	G	A	2: 127,722,423 (GRCm39)		probably null	Het
AI606181	A	C	19: 41,582,170 (GRCm39)	K113N	unknown	Het
Ankrd11	T	C	8: 123,618,914 (GRCm39)	D1646G	possibly damaging	Het
Ap2m1	T	A	16: 20,360,990 (GRCm39)	I334N	possibly damaging	Het
Arih2	T	A	9: 108,482,291 (GRCm39)	H490L	possibly damaging	Het
Ccdc168	T	A	1: 44,100,257 (GRCm39)	K280N	possibly damaging	Het
Cdhr1	T	C	14: 36,802,633 (GRCm39)	Y610C	probably damaging	Het
Cdkal1	C	A	13: 29,875,579 (GRCm39)		probably null	Het
Cep76	A	T	18: 67,767,850 (GRCm39)	N227K	probably benign	Het
Clca4b	A	T	3: 144,619,112 (GRCm39)	Y676N	probably damaging	Het
Cog2	T	C	8: 125,255,797 (GRCm39)		probably null	Het
Col6a4	A	T	9: 105,957,746 (GRCm39)	V26D	probably damaging	Het
Dcaf11	T	C	14: 55,806,537 (GRCm39)	V446A	probably damaging	Het
Dync1h1	C	A	12: 110,606,378 (GRCm39)	Q2483K	probably benign	Het
Enpp3	A	T	10: 24,652,679 (GRCm39)	D759E	probably damaging	Het
Etfbkmt	C	T	6: 149,052,082 (GRCm39)	R96W	probably benign	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Glipr1l2	A	G	10: 111,928,477 (GRCm39)	D124G	probably benign	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
Hnrnph3	T	A	10: 62,853,994 (GRCm39)	R41S	probably benign	Het
Hnrnph3	T	A	10: 62,855,279 (GRCm39)	D2V	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Itpr2	T	C	6: 146,319,477 (GRCm39)	T188A	possibly damaging	Het
Krt23	T	A	11: 99,377,608 (GRCm39)	I133L	probably damaging	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Map1a	A	T	2: 121,136,255 (GRCm39)	H2357L	probably benign	Het
Mbl1	A	G	14: 40,880,706 (GRCm39)	N198S	probably damaging	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdga2	T	C	12: 66,517,700 (GRCm39)	K45E	possibly damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Mospd3	A	G	5: 137,595,294 (GRCm39)	L233P	probably damaging	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Or5p5	T	C	7: 107,413,895 (GRCm39)	Y35H	probably damaging	Het
Or5w15	A	G	2: 87,567,825 (GRCm39)	V281A	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Or8g27	G	A	9: 39,129,024 (GRCm39)	V124I	possibly damaging	Het
Parp2	T	A	14: 51,057,130 (GRCm39)	Y361N	probably damaging	Het
Pcf11	G	A	7: 92,307,039 (GRCm39)	P1043L	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pkn1	C	A	8: 84,398,953 (GRCm39)	C678F	probably damaging	Het
Plcl2	T	C	17: 50,915,010 (GRCm39)	L673P	probably damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Rem2	T	C	14: 54,713,754 (GRCm39)		probably benign	Het
Smpdl3b	A	G	4: 132,472,449 (GRCm39)	V108A	probably damaging	Het
Sncaip	A	G	18: 53,001,781 (GRCm39)	T101A	probably benign	Het
Stk11	T	C	10: 79,961,920 (GRCm39)	V47A	probably damaging	Het
Tmpo	A	C	10: 90,998,958 (GRCm39)	I276M	probably benign	Het
Trim55	G	T	3: 19,725,256 (GRCm39)	V258L	possibly damaging	Het
Ttn	A	G	2: 76,560,756 (GRCm39)	V29215A	probably damaging	Het
Ubr4	T	G	4: 139,157,534 (GRCm39)	S2364A	probably benign	Het
Unc79	T	A	12: 103,045,329 (GRCm39)		probably null	Het
Upb1	T	C	10: 75,250,917 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,655,787 (GRCm39)	S155P	possibly damaging	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	probably benign	Het
Zfp729b	A	T	13: 67,739,253 (GRCm39)	V1004E	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
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
R8399:Or4a39	UTSW	2	89,237,028 (GRCm39)	missense	probably benign	0.10
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'- ACCATACAGATTGCTCCACCATTCG -3'
(R):5'- ACAGTGATTGCCAGTCCCTCCTTG -3'

Sequencing Primer
(F):5'- GTCCAATGAAGTAAGTGTCACTGC -3'
(R):5'- GGGCTCCCCAATGTACTTC -3'

Posted On

2013-05-23