Mutagenetix > Incidental Mutation

Incidental Mutation 'R6331:Or4a2'

510889

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

044485-MU

Accession Numbers

Essential gene?

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

Stock #

R6331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89247838-89248755 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89248695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 21 (G21S)

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: G21S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000097368
Gene: ENSMUSG00000075088
AA Change: G21S

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: G21S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000217181
AA Change: G21S

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,529,199 (GRCm39)	D981G	probably damaging	Het
Abcc1	C	A	16: 14,282,920 (GRCm39)	A1132D	probably damaging	Het
Adamts12	A	G	15: 11,241,519 (GRCm39)	T364A	probably damaging	Het
Ahnak	A	T	19: 8,983,989 (GRCm39)	M1758L	probably benign	Het
Ak9	T	C	10: 41,258,825 (GRCm39)	V774A	probably damaging	Het
Ash1l	A	G	3: 88,915,172 (GRCm39)	E1934G	probably benign	Het
Atp2b2	C	T	6: 113,774,092 (GRCm39)	A341T	probably benign	Het
Bach2	G	T	4: 32,238,816 (GRCm39)		probably benign	Het
Bltp3a	T	C	17: 28,112,175 (GRCm39)	I1150T	probably benign	Het
Brd10	C	T	19: 29,695,147 (GRCm39)	V1449I	probably benign	Het
Ccdc102a	T	C	8: 95,638,144 (GRCm39)	T241A	probably benign	Het
Chd5	G	T	4: 152,466,865 (GRCm39)	R1627S	probably benign	Het
Clint1	T	C	11: 45,785,908 (GRCm39)	S322P	probably benign	Het
Dapk1	T	A	13: 60,877,256 (GRCm39)	C498*	probably null	Het
Diaph3	T	G	14: 87,103,976 (GRCm39)	S803R	probably damaging	Het
Dmp1	T	C	5: 104,354,991 (GRCm39)	L10P	probably damaging	Het
Gcc2	T	C	10: 58,107,287 (GRCm39)	V741A	probably benign	Het
Gldn	A	G	9: 54,194,162 (GRCm39)	M119V	probably benign	Het
Gucy1b1	A	G	3: 81,941,718 (GRCm39)	S574P	possibly damaging	Het
Hapln4	T	A	8: 70,537,073 (GRCm39)		probably benign	Het
Hars1	A	G	18: 36,904,385 (GRCm39)	V209A	probably benign	Het
Htt	T	A	5: 35,053,231 (GRCm39)	F2521L	possibly damaging	Het
Kif14	A	G	1: 136,443,724 (GRCm39)	D1299G	probably null	Het
Krt25	T	A	11: 99,208,253 (GRCm39)	E325V	probably damaging	Het
Lcmt1	T	C	7: 122,977,405 (GRCm39)		probably benign	Het
Lrp1b	A	T	2: 40,693,221 (GRCm39)	N3266K	probably damaging	Het
Mctp1	T	A	13: 77,168,982 (GRCm39)		probably null	Het
Mtarc2	A	G	1: 184,551,525 (GRCm39)	S304P	probably damaging	Het
Myo5b	G	A	18: 74,750,064 (GRCm39)	A176T	probably damaging	Het
Myom3	A	G	4: 135,503,688 (GRCm39)	N379S	possibly damaging	Het
Nbea	A	T	3: 55,908,037 (GRCm39)	D1358E	possibly damaging	Het
Nod1	T	C	6: 54,901,968 (GRCm39)	E939G	probably damaging	Het
Obox1	A	G	7: 15,289,294 (GRCm39)	R70G	probably benign	Het
Or13c25	A	G	4: 52,911,399 (GRCm39)	Y132H	probably damaging	Het
Or13p3	A	G	4: 118,567,144 (GRCm39)	E180G	probably benign	Het
Or5m12	T	C	2: 85,734,560 (GRCm39)	I279M	probably benign	Het
Otof	T	C	5: 30,529,279 (GRCm39)	D1745G	possibly damaging	Het
Pklr	A	G	3: 89,044,662 (GRCm39)	I47V	probably damaging	Het
Pms2	T	A	5: 143,851,451 (GRCm39)	S123T	possibly damaging	Het
Pnpla2	T	C	7: 141,039,198 (GRCm39)	S337P	probably damaging	Het
Ptgfrn	A	C	3: 100,952,936 (GRCm39)	V766G	possibly damaging	Het
Ptpn11	T	A	5: 121,282,716 (GRCm39)	H419L	probably damaging	Het
Rims3	T	A	4: 120,740,350 (GRCm39)	V99E	probably damaging	Het
Rmc1	G	A	18: 12,313,571 (GRCm39)	R228H	probably damaging	Het
Samd9l	A	G	6: 3,376,361 (GRCm39)	V300A	probably damaging	Het
Sdad1	T	C	5: 92,451,789 (GRCm39)	D144G	probably damaging	Het
Siglecg	T	C	7: 43,058,178 (GRCm39)	Y22H	possibly damaging	Het
Slc39a1	A	G	3: 90,159,588 (GRCm39)	K305R	possibly damaging	Het
Slc5a4a	A	G	10: 76,014,034 (GRCm39)	R414G	probably damaging	Het
Smg1	T	C	7: 117,753,500 (GRCm39)		probably benign	Het
Tbc1d9b	C	T	11: 50,022,324 (GRCm39)	A20V	possibly damaging	Het
Tgfb3	G	T	12: 86,110,638 (GRCm39)	D237E	probably benign	Het
Tle6	A	G	10: 81,431,073 (GRCm39)	S234P	probably benign	Het
Tnrc6b	A	G	15: 80,763,815 (GRCm39)	N439S	probably benign	Het
Trim33	T	C	3: 103,248,925 (GRCm39)	S783P	probably benign	Het
Ttn	A	T	2: 76,632,698 (GRCm39)	Y12373N	probably damaging	Het
Tube1	G	A	10: 39,010,097 (GRCm39)	V7I	probably benign	Het
Tufm	T	C	7: 126,088,410 (GRCm39)	V265A	probably benign	Het
Usp32	T	C	11: 84,877,402 (GRCm39)	H1550R	possibly damaging	Het
Usp33	A	T	3: 152,081,887 (GRCm39)	M546L	probably damaging	Het
Uspl1	C	A	5: 149,151,097 (GRCm39)	Q752K	probably benign	Het
Vmn1r20	A	G	6: 57,408,655 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,659,521 (GRCm39)	F245S	probably damaging	Het
Vmn2r3	A	G	3: 64,186,182 (GRCm39)	S168P	probably damaging	Het
Wdr24	T	G	17: 26,044,650 (GRCm39)	D168E	possibly damaging	Het
Zfp646	C	T	7: 127,482,853 (GRCm39)	P1677S	probably 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
R4110:Or4a2	UTSW	2	89,248,444 (GRCm39)	missense	probably benign	0.01
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
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'- GGTGTAACTGTGGTTGAATACAC -3'
(R):5'- TGTAACACCATTGAATTTGGAGACTCC -3'

Sequencing Primer
(F):5'- CTGTGGTTGAATACACAGCATCC -3'
(R):5'- CCATTGAATTTGGAGACTCCTATTTG -3'

Posted On

2018-04-02