Mutagenetix > Incidental Mutation

Incidental Mutation 'R0416:Or2a56'

40308

Institutional Source

Beutler Lab

Gene Symbol

Or2a56

Ensembl Gene

ENSMUSG00000073110

Gene Name

olfactory receptor family 2 subfamily A member 56

Synonyms

Olfr444, MOR261-2, GA_x6K02T2P3E9-4602571-4601639

MMRRC Submission

038618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0416 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42932434-42933366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 42932504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 24 (C24Y)

Ref Sequence

ENSEMBL: ENSMUSP00000144691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095955] [ENSMUST00000204092]

AlphaFold

Q8VFS6

Predicted Effect

probably benign
Transcript: ENSMUST00000095955
AA Change: C24Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093649
Gene: ENSMUSG00000073110
AA Change: C24Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	1e-60	PFAM
Pfam:7tm_1	40	289	6.1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204092
AA Change: C24Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144691
Gene: ENSMUSG00000073110
AA Change: C24Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	8.6e-60	PFAM
Pfam:7tm_1	40	289	3.5e-26	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 91.8%

Validation Efficiency

99% (74/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,162,779 (GRCm39)	I18V	probably benign	Het
Adamdec1	T	G	14: 68,806,161 (GRCm39)	E438A	possibly damaging	Het
Adamts17	A	G	7: 66,565,646 (GRCm39)		probably null	Het
Ankrd44	T	G	1: 54,782,498 (GRCm39)	I359L	possibly damaging	Het
Ap2s1	C	A	7: 16,481,290 (GRCm39)	N86K	probably damaging	Het
Arih1	T	A	9: 59,333,993 (GRCm39)		probably benign	Het
Astn1	T	A	1: 158,337,461 (GRCm39)	I389N	probably damaging	Het
Brca2	T	C	5: 150,492,857 (GRCm39)	S3291P	possibly damaging	Het
Cacna1d	T	C	14: 29,822,645 (GRCm39)		probably benign	Het
Ccl7	C	A	11: 81,936,692 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,944,486 (GRCm39)	Y232F	possibly damaging	Het
Cep128	A	G	12: 91,197,641 (GRCm39)		probably benign	Het
Cep89	T	A	7: 35,115,827 (GRCm39)		probably benign	Het
Cmya5	T	G	13: 93,226,364 (GRCm39)	N2908T	probably benign	Het
Coil	T	C	11: 88,872,812 (GRCm39)	L391S	possibly damaging	Het
Cpd	C	T	11: 76,676,030 (GRCm39)	V1208I	probably benign	Het
Ddx19a	T	C	8: 111,705,689 (GRCm39)	D254G	probably damaging	Het
Desi2	T	A	1: 178,083,887 (GRCm39)		probably benign	Het
Dnah11	A	T	12: 117,874,793 (GRCm39)	M4024K	probably damaging	Het
Ergic2	A	T	6: 148,084,642 (GRCm39)	L53H	probably damaging	Het
Etv2	T	C	7: 30,334,058 (GRCm39)	Y225C	probably benign	Het
F10	G	A	8: 13,105,448 (GRCm39)	A338T	probably damaging	Het
Fam228b	T	A	12: 4,812,382 (GRCm39)	D132V	probably damaging	Het
Fat2	T	A	11: 55,174,960 (GRCm39)	I1918F	possibly damaging	Het
Fbxw5	C	T	2: 25,393,251 (GRCm39)	S214F	probably damaging	Het
Glyat	G	A	19: 12,628,817 (GRCm39)	R204Q	possibly damaging	Het
Gm4825	T	C	15: 85,395,182 (GRCm39)		noncoding transcript	Het
Ino80d	G	T	1: 63,125,435 (GRCm39)	T9K	possibly damaging	Het
Lifr	A	T	15: 7,196,395 (GRCm39)	D193V	probably damaging	Het
Lrp12	G	T	15: 39,742,307 (GRCm39)		probably benign	Het
Lrp3	A	G	7: 34,901,778 (GRCm39)	V701A	probably benign	Het
Mfsd11	T	A	11: 116,756,708 (GRCm39)		probably benign	Het
Mrto4	A	T	4: 139,077,043 (GRCm39)		probably null	Het
Msi1	T	C	5: 115,568,708 (GRCm39)	F43L	possibly damaging	Het
Mthfsd	T	C	8: 121,827,976 (GRCm39)	D168G	probably damaging	Het
Myo15a	T	A	11: 60,402,000 (GRCm39)	V3099E	probably damaging	Het
Myrf	T	C	19: 10,193,176 (GRCm39)		probably null	Het
Nadk	C	A	4: 155,672,256 (GRCm39)		probably benign	Het
Nav1	T	C	1: 135,398,864 (GRCm39)	K573E	possibly damaging	Het
Ndufs3	A	G	2: 90,728,732 (GRCm39)	V207A	probably damaging	Het
Nlrp3	T	C	11: 59,446,750 (GRCm39)		probably benign	Het
Nlrx1	T	G	9: 44,174,211 (GRCm39)	D330A	probably benign	Het
Or2t49	T	C	11: 58,393,222 (GRCm39)	I53M	unknown	Het
Osbpl3	C	T	6: 50,324,998 (GRCm39)	V167I	probably benign	Het
Pcnx1	A	T	12: 82,021,240 (GRCm39)	I1410F	probably benign	Het
Piezo2	G	A	18: 63,157,562 (GRCm39)	R2383C	probably damaging	Het
Pip5kl1	A	T	2: 32,473,436 (GRCm39)	K358*	probably null	Het
Polg	T	C	7: 79,101,988 (GRCm39)		probably benign	Het
Prr14l	T	A	5: 32,986,061 (GRCm39)	I1145F	probably benign	Het
Psmb1	C	T	17: 15,714,781 (GRCm39)	V39I	probably benign	Het
Ptk6	T	C	2: 180,844,101 (GRCm39)	Y66C	possibly damaging	Het
Robo4	T	C	9: 37,316,062 (GRCm39)		probably benign	Het
Sdk2	A	G	11: 113,694,029 (GRCm39)	Y1801H	probably damaging	Het
Serpinb3a	C	A	1: 106,977,116 (GRCm39)	A95S	probably benign	Het
Setd1a	CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,384,469 (GRCm39)		probably benign	Het
Sik2	A	T	9: 50,906,932 (GRCm39)	Y98N	probably damaging	Het
Slc30a1	C	T	1: 191,641,838 (GRCm39)	P495S	probably benign	Het
Smg1	A	T	7: 117,783,684 (GRCm39)		probably benign	Het
Stk3	T	A	15: 35,114,778 (GRCm39)	I45L	probably benign	Het
Tapbp	A	G	17: 34,144,392 (GRCm39)	T163A	probably damaging	Het
Tdrd5	T	C	1: 156,113,051 (GRCm39)	K410E	probably damaging	Het
Trim30b	A	T	7: 104,012,973 (GRCm39)	M152K	probably benign	Het
Trpm6	G	T	19: 18,760,389 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,742,743 (GRCm39)		probably benign	Het
U2surp	A	T	9: 95,367,660 (GRCm39)	F444I	probably damaging	Het
Vmn2r95	C	T	17: 18,661,664 (GRCm39)	P470L	probably damaging	Het
Zc3h4	T	G	7: 16,154,200 (GRCm39)	Y163D	probably damaging	Het
Zfp62	A	T	11: 49,106,503 (GRCm39)	H198L	probably damaging	Het
Zmym1	A	G	4: 126,952,613 (GRCm39)	L56P	probably benign	Het

Other mutations in Or2a56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Or2a56	APN	6	42,933,370 (GRCm39)	utr 3 prime	probably benign
IGL02135:Or2a56	APN	6	42,932,585 (GRCm39)	missense	probably damaging	0.99
IGL02323:Or2a56	APN	6	42,932,917 (GRCm39)	missense	probably benign	0.02
IGL02398:Or2a56	APN	6	42,933,046 (GRCm39)	missense	probably benign	0.02
IGL02622:Or2a56	APN	6	42,932,663 (GRCm39)	missense	probably damaging	0.99
R0077:Or2a56	UTSW	6	42,932,707 (GRCm39)	missense	probably benign	0.13
R0959:Or2a56	UTSW	6	42,932,686 (GRCm39)	missense	probably benign
R1181:Or2a56	UTSW	6	42,932,492 (GRCm39)	missense	probably benign	0.23
R1347:Or2a56	UTSW	6	42,932,639 (GRCm39)	missense	probably damaging	1.00
R1347:Or2a56	UTSW	6	42,932,639 (GRCm39)	missense	probably damaging	1.00
R1604:Or2a56	UTSW	6	42,932,650 (GRCm39)	missense	possibly damaging	0.73
R3021:Or2a56	UTSW	6	42,933,118 (GRCm39)	missense	possibly damaging	0.91
R4226:Or2a56	UTSW	6	42,932,689 (GRCm39)	missense	probably benign
R4227:Or2a56	UTSW	6	42,932,648 (GRCm39)	missense	possibly damaging	0.95
R4776:Or2a56	UTSW	6	42,932,455 (GRCm39)	missense	probably benign	0.00
R5941:Or2a56	UTSW	6	42,932,650 (GRCm39)	missense	possibly damaging	0.86
R7539:Or2a56	UTSW	6	42,933,037 (GRCm39)	missense	possibly damaging	0.95
R7763:Or2a56	UTSW	6	42,932,723 (GRCm39)	missense	probably benign	0.00
R9800:Or2a56	UTSW	6	42,933,091 (GRCm39)	missense	probably damaging	1.00
X0063:Or2a56	UTSW	6	42,932,953 (GRCm39)	missense	possibly damaging	0.64
Z1176:Or2a56	UTSW	6	42,933,232 (GRCm39)	missense	probably benign	0.14
Z1176:Or2a56	UTSW	6	42,932,624 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGTGTCCTAAGACACAGCCAGAC -3'
(R):5'- GCCAGGATGGTACACACTTTCCAAC -3'

Sequencing Primer
(F):5'- GACACAGCCAGACATTTTCTTC -3'
(R):5'- ATCAGGCATTCTGTGCAAGC -3'

Posted On

2013-05-23