Mutagenetix > Incidental Mutation

Incidental Mutation 'R9684:Or56a3'

728739

Institutional Source

Beutler Lab

Gene Symbol

Or56a3

Ensembl Gene

ENSMUSG00000096029

Gene Name

olfactory receptor family 56 subfamily A member 3

Synonyms

MOR40-2, GA_x6K02T2PBJ9-7714499-7715446, Olfr679

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R9684 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104734925-104735872 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104735589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 222 (Y222C)

Ref Sequence

ENSEMBL: ENSMUSP00000150668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042676] [ENSMUST00000098158] [ENSMUST00000214328] [ENSMUST00000215704]

AlphaFold

Q8VGV0

Predicted Effect

probably benign
Transcript: ENSMUST00000042676

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098158
AA Change: Y222C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095761
Gene: ENSMUSG00000096029
AA Change: Y222C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	314	1.2e-73	PFAM
Pfam:7TM_GPCR_Srsx	39	311	6.2e-10	PFAM
Pfam:7tm_1	45	296	1.8e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215704
AA Change: Y222C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,283,307 (GRCm39)	D3243V	probably damaging	Het
Acot3	T	C	12: 84,105,650 (GRCm39)	L281P	probably benign	Het
Asb4	A	C	6: 5,398,296 (GRCm39)	H87P	probably damaging	Het
Ccnt1	A	T	15: 98,446,566 (GRCm39)	Y175N	probably damaging	Het
Cdh11	A	G	8: 103,391,327 (GRCm39)	V303A	probably benign	Het
Cdk19	T	A	10: 40,351,594 (GRCm39)	M297K	probably damaging	Het
Ces2c	A	C	8: 105,574,699 (GRCm39)	D52A	probably benign	Het
Cox10	C	T	11: 63,855,207 (GRCm39)	R358H	probably damaging	Het
Cryzl1	A	G	16: 91,487,634 (GRCm39)	I302T	probably benign	Het
Def6	T	C	17: 28,436,044 (GRCm39)	Y68H	probably damaging	Het
Dolpp1	A	G	2: 30,285,748 (GRCm39)	I49V	possibly damaging	Het
Ehmt1	T	C	2: 24,753,329 (GRCm39)	D357G	possibly damaging	Het
Ermp1	G	T	19: 29,594,106 (GRCm39)	T688N	probably benign	Het
F830016B08Rik	T	C	18: 60,433,043 (GRCm39)	I42T	probably damaging	Het
Gbp7	A	G	3: 142,240,327 (GRCm39)	E15G	possibly damaging	Het
Ghdc	A	G	11: 100,661,091 (GRCm39)	S25P	probably benign	Het
Gm45861	A	G	8: 28,014,601 (GRCm39)	N613S	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gzmf	T	A	14: 56,444,444 (GRCm39)	D43V	probably benign	Het
Hdac10	C	A	15: 89,011,402 (GRCm39)	D172Y	probably damaging	Het
Krt32	T	A	11: 99,977,308 (GRCm39)	R197S	probably damaging	Het
Lama5	T	C	2: 179,849,038 (GRCm39)	D215G	probably damaging	Het
M1ap	C	A	6: 82,945,094 (GRCm39)	H129Q	probably benign	Het
Mfsd3	A	G	15: 76,587,183 (GRCm39)	D312G	probably benign	Het
Muc5ac	A	G	7: 141,364,798 (GRCm39)	D2628G	probably benign	Het
Myoz3	T	C	18: 60,712,026 (GRCm39)	D184G	possibly damaging	Het
Ncor2	A	G	5: 125,102,139 (GRCm39)	L1217P		Het
Nepn	T	C	10: 52,276,801 (GRCm39)	V179A	probably benign	Het
Niban1	T	A	1: 151,593,538 (GRCm39)	I741N	possibly damaging	Het
Npr2	T	C	4: 43,632,491 (GRCm39)	Y103H	probably damaging	Het
Oosp3	A	T	19: 11,682,806 (GRCm39)	K158M	probably benign	Het
Or51i1	C	A	7: 103,671,079 (GRCm39)	G149C	probably damaging	Het
Orc3	G	A	4: 34,607,135 (GRCm39)	T65I	probably benign	Het
Pcdhga7	T	C	18: 37,848,667 (GRCm39)	S225P	probably damaging	Het
Pcsk9	G	T	4: 106,307,386 (GRCm39)	L286I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnma1	T	C	12: 84,193,941 (GRCm39)	Y254C	probably benign	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ralgapa1	T	C	12: 55,659,485 (GRCm39)	T2012A	possibly damaging	Het
Selp	T	A	1: 163,953,858 (GRCm39)	W53R	probably damaging	Het
Slc10a7	T	A	8: 79,456,304 (GRCm39)	V302E	possibly damaging	Het
Slc25a32	T	C	15: 38,969,339 (GRCm39)	I65V	probably benign	Het
Spesp1	A	G	9: 62,180,545 (GRCm39)	F121S	probably damaging	Het
Syncrip	T	C	9: 88,361,671 (GRCm39)	T110A	probably benign	Het
Tc2n	T	C	12: 101,660,818 (GRCm39)	D138G	probably benign	Het
Tnfrsf9	C	T	4: 151,018,865 (GRCm39)	P179S	probably benign	Het
Ube2r2	A	G	4: 41,183,329 (GRCm39)	T117A	probably benign	Het
Ush2a	A	C	1: 188,132,078 (GRCm39)	K767Q	possibly damaging	Het
Vdr	A	G	15: 97,767,285 (GRCm39)	V161A	probably benign	Het
Vmn1r33	T	C	6: 66,589,075 (GRCm39)	T160A	possibly damaging	Het
Vmn1r63	A	G	7: 5,805,913 (GRCm39)	S240P	probably benign	Het
Vmp1	T	C	11: 86,476,156 (GRCm39)	N400S	probably benign	Het
Zfp599	G	A	9: 22,160,824 (GRCm39)	T447I	probably damaging	Het

Other mutations in Or56a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02247:Or56a3	APN	7	104,735,530 (GRCm39)	nonsense	probably null
IGL02505:Or56a3	APN	7	104,735,540 (GRCm39)	missense	probably benign
IGL03160:Or56a3	APN	7	104,735,520 (GRCm39)	missense	probably damaging	1.00
R0079:Or56a3	UTSW	7	104,735,135 (GRCm39)	missense	probably damaging	1.00
R2126:Or56a3	UTSW	7	104,735,822 (GRCm39)	missense	probably damaging	1.00
R2185:Or56a3	UTSW	7	104,735,509 (GRCm39)	missense	possibly damaging	0.79
R3122:Or56a3	UTSW	7	104,735,385 (GRCm39)	missense	probably benign	0.00
R3828:Or56a3	UTSW	7	104,735,504 (GRCm39)	missense	probably benign	0.00
R4235:Or56a3	UTSW	7	104,734,994 (GRCm39)	missense	possibly damaging	0.71
R4360:Or56a3	UTSW	7	104,735,460 (GRCm39)	missense	probably damaging	0.99
R4485:Or56a3	UTSW	7	104,735,808 (GRCm39)	missense	probably damaging	1.00
R4790:Or56a3	UTSW	7	104,735,844 (GRCm39)	unclassified	probably benign
R5542:Or56a3	UTSW	7	104,735,565 (GRCm39)	missense	probably damaging	1.00
R5599:Or56a3	UTSW	7	104,735,757 (GRCm39)	splice site	probably null
R5723:Or56a3	UTSW	7	104,740,309 (GRCm39)	missense	probably damaging	0.99
R5770:Or56a3	UTSW	7	104,740,102 (GRCm39)	missense	probably damaging	0.99
R5871:Or56a3	UTSW	7	104,735,511 (GRCm39)	missense	possibly damaging	0.65
R7231:Or56a3	UTSW	7	104,734,994 (GRCm39)	missense	possibly damaging	0.94
R7593:Or56a3	UTSW	7	104,735,372 (GRCm39)	missense	probably benign
R7881:Or56a3	UTSW	7	104,735,780 (GRCm39)	missense	probably damaging	0.98
R8878:Or56a3	UTSW	7	104,735,763 (GRCm39)	missense	probably damaging	1.00
R8903:Or56a3	UTSW	7	104,735,329 (GRCm39)	missense	possibly damaging	0.89
R9576:Or56a3	UTSW	7	104,735,760 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGGCGGCCACATTCATTCTG -3'
(R):5'- TGAGCAAGATTGGCACATCAG -3'

Sequencing Primer
(F):5'- GCCACATTCATTCTGGTCAGGAATG -3'
(R):5'- GATTGGCACATCAGAAGAGACCTTC -3'

Posted On

2022-10-06