Mutagenetix > Incidental Mutation

Incidental Mutation 'R4110:Or4a2'

317233

Institutional Source

Beutler Lab

Gene Symbol

Or4a2

Ensembl Gene

ENSMUSG00000075088

Gene Name

olfactory receptor family 4 subfamily A member 2

Synonyms

GA_x6K02T2Q125-50861284-50860367, Olfr1239, MOR231-3

MMRRC Submission

040988-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89247838-89248755 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89248444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 104 (L104F)

Ref Sequence

ENSEMBL: ENSMUSP00000149898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099780] [ENSMUST00000216762] [ENSMUST00000217181]

AlphaFold

Q8VGM8

Predicted Effect

probably benign
Transcript: ENSMUST00000099780
AA Change: L104F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000097368
Gene: ENSMUSG00000075088
AA Change: L104F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.5e-46	PFAM
Pfam:7tm_1	39	285	3.7e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216762
AA Change: L104F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000217181
AA Change: L104F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.3%
20x: 95.6%

Validation Efficiency

100% (61/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Acot10	A	T	15: 20,666,612 (GRCm39)	L43Q	probably damaging	Het
Alms1	G	A	6: 85,597,870 (GRCm39)	V1368I	probably benign	Het
Als2cl	T	C	9: 110,713,115 (GRCm39)	S2P	probably benign	Het
AW209491	T	C	13: 14,812,158 (GRCm39)	V337A	probably damaging	Het
Bace2	A	G	16: 97,237,856 (GRCm39)	T436A	probably benign	Het
BC023105	A	G	18: 60,575,356 (GRCm39)		noncoding transcript	Het
Blvra	T	C	2: 126,937,075 (GRCm39)	V176A	probably damaging	Het
Casp2	G	A	6: 42,244,828 (GRCm39)	A76T	probably damaging	Het
Ccdc88c	A	G	12: 100,911,332 (GRCm39)	L34P	probably damaging	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Col6a2	T	A	10: 76,442,003 (GRCm39)		probably null	Het
Cse1l	T	C	2: 166,783,970 (GRCm39)	Y488H	probably benign	Het
Dip2c	G	T	13: 9,687,137 (GRCm39)	G1254C	probably damaging	Het
Dnajb12	T	A	10: 59,730,136 (GRCm39)	S270R	possibly damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Dscaml1	G	A	9: 45,643,366 (GRCm39)	A1262T	probably benign	Het
Dtwd2	A	C	18: 49,831,373 (GRCm39)		probably benign	Het
Fadd	C	A	7: 144,134,488 (GRCm39)	K132N	possibly damaging	Het
Fndc3c1	T	C	X: 105,487,897 (GRCm39)	N462S	probably benign	Het
Fzd3	A	G	14: 65,472,616 (GRCm39)	V384A	probably benign	Het
Gm6370	T	C	5: 146,430,702 (GRCm39)	S296P	probably benign	Het
Gsdmc	T	A	15: 63,651,876 (GRCm39)	H245L	probably benign	Het
H13	T	C	2: 152,523,029 (GRCm39)	I114T	probably damaging	Het
Hhipl2	A	G	1: 183,204,920 (GRCm39)	R78G	probably benign	Het
Hrh3	C	A	2: 179,744,643 (GRCm39)	R99L	possibly damaging	Het
Ldc1	A	T	4: 130,112,967 (GRCm39)	L143Q	probably damaging	Het
Man2c1	A	G	9: 57,044,055 (GRCm39)	N330S	probably damaging	Het
Muc19	T	A	15: 91,781,816 (GRCm39)		noncoding transcript	Het
Myh14	T	G	7: 44,277,974 (GRCm39)	M1092L	probably benign	Het
Neb	A	G	2: 52,038,778 (GRCm39)	I2899T	probably benign	Het
Neb	T	A	2: 52,134,137 (GRCm39)	Q3282L	probably damaging	Het
Nqo2	A	T	13: 34,163,620 (GRCm39)	Q93L	probably benign	Het
Or13a18	T	A	7: 140,190,178 (GRCm39)	L33Q	possibly damaging	Het
Or13a18	C	A	7: 140,190,177 (GRCm39)	L33M	probably benign	Het
Or51i2	T	C	7: 103,689,609 (GRCm39)	V202A	probably damaging	Het
Pcsk1	A	G	13: 75,244,488 (GRCm39)	N122S	probably damaging	Het
Pdzrn4	A	G	15: 92,668,745 (GRCm39)	I966V	probably benign	Het
Phldb1	G	A	9: 44,627,128 (GRCm39)	T439I	possibly damaging	Het
Pign	A	G	1: 105,481,540 (GRCm39)		probably benign	Het
Pkn1	A	T	8: 84,417,828 (GRCm39)	D120E	probably benign	Het
Ptpru	A	G	4: 131,546,348 (GRCm39)	Y301H	probably damaging	Het
Raly	C	T	2: 154,699,378 (GRCm39)	Q61*	probably null	Het
Rpl24	T	C	16: 55,791,723 (GRCm39)	V148A	probably benign	Het
S100a16	A	G	3: 90,449,379 (GRCm39)	N18S	probably damaging	Het
Sec31b	G	T	19: 44,512,968 (GRCm39)	T507N	possibly damaging	Het
Sgca	T	C	11: 94,863,396 (GRCm39)	T27A	possibly damaging	Het
Slc22a12	C	A	19: 6,590,658 (GRCm39)	R203L	probably damaging	Het
Ssbp3	C	A	4: 106,904,393 (GRCm39)		probably benign	Het
Sucnr1	C	G	3: 59,994,215 (GRCm39)	R248G	probably damaging	Het
Tbr1	C	T	2: 61,642,076 (GRCm39)	P184L	probably benign	Het
Thsd7b	A	T	1: 130,044,356 (GRCm39)	D1112V	probably benign	Het
Tnc	A	G	4: 63,933,188 (GRCm39)	V692A	probably damaging	Het
Top2a	C	A	11: 98,913,786 (GRCm39)	K18N	probably damaging	Het
Topbp1	G	T	9: 103,187,158 (GRCm39)	R121L	probably damaging	Het
Unc79	T	C	12: 103,025,629 (GRCm39)	C339R	probably damaging	Het
Wdfy3	C	T	5: 102,047,924 (GRCm39)		probably null	Het
Zbtb3	G	C	19: 8,780,384 (GRCm39)		probably benign	Het
Zfp715	T	A	7: 42,947,304 (GRCm39)	K885N	possibly damaging	Het

Other mutations in Or4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03186:Or4a2	APN	2	89,248,188 (GRCm39)	missense	probably damaging	0.99
PIT4810001:Or4a2	UTSW	2	89,248,297 (GRCm39)	missense	probably damaging	1.00
R0271:Or4a2	UTSW	2	89,248,502 (GRCm39)	missense	probably benign	0.00
R0521:Or4a2	UTSW	2	89,248,544 (GRCm39)	missense	probably damaging	1.00
R0667:Or4a2	UTSW	2	89,248,032 (GRCm39)	missense	probably benign	0.05
R1738:Or4a2	UTSW	2	89,248,362 (GRCm39)	missense	probably benign	0.02
R1955:Or4a2	UTSW	2	89,248,755 (GRCm39)	start codon destroyed	probably damaging	1.00
R3114:Or4a2	UTSW	2	89,248,757 (GRCm39)	splice site	probably null
R4111:Or4a2	UTSW	2	89,248,444 (GRCm39)	missense	probably benign	0.01
R4796:Or4a2	UTSW	2	89,248,235 (GRCm39)	missense	probably damaging	0.99
R4951:Or4a2	UTSW	2	89,248,116 (GRCm39)	missense	probably benign	0.01
R5751:Or4a2	UTSW	2	89,248,031 (GRCm39)	missense	probably damaging	1.00
R6331:Or4a2	UTSW	2	89,248,695 (GRCm39)	missense	probably benign	0.04
R7249:Or4a2	UTSW	2	89,248,217 (GRCm39)	missense	probably damaging	1.00
R7352:Or4a2	UTSW	2	89,248,311 (GRCm39)	missense	probably damaging	1.00
R7476:Or4a2	UTSW	2	89,247,843 (GRCm39)	missense	possibly damaging	0.69
R7493:Or4a2	UTSW	2	89,248,145 (GRCm39)	missense	probably benign	0.08
R7589:Or4a2	UTSW	2	89,248,724 (GRCm39)	missense	possibly damaging	0.82
R9091:Or4a2	UTSW	2	89,248,712 (GRCm39)	missense	probably damaging	1.00
R9270:Or4a2	UTSW	2	89,248,712 (GRCm39)	missense	probably damaging	1.00
R9749:Or4a2	UTSW	2	89,248,662 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TCTGTGCAGGCCAATTTTAATAAGG -3'
(R):5'- TCAGCCCAAGTTTAGATGCC -3'

Sequencing Primer
(F):5'- GCAGGCCAATTTTAATAAGGGATAC -3'
(R):5'- AAGTTTAGATGCCCCCATGTAC -3'

Posted On

2015-05-15