Mutagenetix > Incidental Mutation

Incidental Mutation 'R7881:Or56a3'

608754

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

045933-MU

Accession Numbers

Essential gene?

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

Stock #

R7881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104734925-104735872 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104735780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 286 (V286F)

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

probably damaging
Transcript: ENSMUST00000098158
AA Change: V286F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095761
Gene: ENSMUSG00000096029
AA Change: V286F

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

probably damaging
Transcript: ENSMUST00000214328
AA Change: V286F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215704
AA Change: V286F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,685 (GRCm39)	N1030S	possibly damaging	Het
4930507D05Rik	A	G	10: 62,285,303 (GRCm39)	H9R	unknown	Het
Anks1b	T	A	10: 90,802,880 (GRCm39)	S398T	probably benign	Het
Bbox1	T	A	2: 110,122,871 (GRCm39)	K139N	probably benign	Het
Birc6	C	A	17: 74,948,666 (GRCm39)	H3047N	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camta1	G	A	4: 151,920,333 (GRCm39)	S18F	probably damaging	Het
Ccnb1ip1	T	C	14: 51,031,277 (GRCm39)	Y12C	possibly damaging	Het
Celsr3	G	A	9: 108,705,271 (GRCm39)	A585T	probably benign	Het
Col6a4	T	C	9: 105,957,497 (GRCm39)	N109S	probably benign	Het
Crisp4	A	T	1: 18,198,893 (GRCm39)	D180E	probably benign	Het
Dmxl1	T	A	18: 49,997,450 (GRCm39)	M546K	probably damaging	Het
Dnah11	C	T	12: 117,951,237 (GRCm39)	V3024I	probably benign	Het
Dnah2	T	C	11: 69,322,064 (GRCm39)	D3752G	probably damaging	Het
Dram1	G	T	10: 88,160,609 (GRCm39)	D237E	probably benign	Het
Ehbp1l1	T	C	19: 5,769,426 (GRCm39)	N626D	probably benign	Het
Elavl1	T	G	8: 4,361,763 (GRCm39)	N3T	probably damaging	Het
Fam184a	A	G	10: 53,574,589 (GRCm39)	V340A	probably benign	Het
Fer1l5	C	T	1: 36,446,117 (GRCm39)	T876M	not run	Het
Foxp2	T	A	6: 15,409,888 (GRCm39)	V471E	unknown	Het
Fstl5	G	A	3: 76,443,605 (GRCm39)	G317R	probably damaging	Het
Gm32742	T	C	9: 51,060,414 (GRCm39)	E963G	possibly damaging	Het
Gpbp1	A	T	13: 111,575,733 (GRCm39)	S257T	possibly damaging	Het
Gsdmc4	C	T	15: 63,769,568 (GRCm39)	C218Y	possibly damaging	Het
Hmg20b	T	C	10: 81,182,442 (GRCm39)	H298R	probably damaging	Het
Igf2r	A	T	17: 12,967,591 (GRCm39)	C72S	probably benign	Het
Kcnip1	A	G	11: 33,583,206 (GRCm39)	M193T	probably damaging	Het
Khdc1c	G	T	1: 21,439,899 (GRCm39)	C150F	probably benign	Het
Kmt2b	A	G	7: 30,279,208 (GRCm39)	S1485P	probably damaging	Het
Lnpep	A	G	17: 17,787,001 (GRCm39)	S533P	probably benign	Het
Megf8	T	A	7: 25,040,060 (GRCm39)	V997E	possibly damaging	Het
Mob2	T	C	7: 141,563,177 (GRCm39)	Y94C	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Npepl1	A	G	2: 173,962,387 (GRCm39)	D351G	probably damaging	Het
Nrg1	G	A	8: 32,328,352 (GRCm39)	Q213*	probably null	Het
Nrp2	A	G	1: 62,810,990 (GRCm39)	D677G	probably benign	Het
Or11h7	A	G	14: 50,890,904 (GRCm39)	E70G	probably damaging	Het
Or2b4	G	T	17: 38,116,320 (GRCm39)	G95C	probably damaging	Het
Or5aq7	G	T	2: 86,938,401 (GRCm39)	T110K	probably damaging	Het
Or5m3b	C	A	2: 85,871,814 (GRCm39)	Q52K	probably benign	Het
Or8c8	T	A	9: 38,165,406 (GRCm39)	M228K	probably benign	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Phaf1	C	A	8: 105,976,084 (GRCm39)	T347N	probably benign	Het
Prune2	G	A	19: 17,100,393 (GRCm39)	V1966I	possibly damaging	Het
Ptch2	A	G	4: 116,967,585 (GRCm39)	H751R	probably benign	Het
Ptges2	T	A	2: 32,292,243 (GRCm39)	M353K	probably damaging	Het
Pum3	G	A	19: 27,373,728 (GRCm39)	Q564*	probably null	Het
Qtrt1	A	G	9: 21,330,637 (GRCm39)	D279G	probably damaging	Het
Rftn1	C	T	17: 50,354,463 (GRCm39)	V300I	probably benign	Het
Robo2	T	C	16: 73,717,585 (GRCm39)	T1172A	probably benign	Het
Sdc3	A	G	4: 130,544,244 (GRCm39)	D74G	unknown	Het
Setd1b	A	G	5: 123,290,336 (GRCm39)	M768V	unknown	Het
Shld2	A	T	14: 33,989,724 (GRCm39)	M394K	possibly damaging	Het
Siglech	A	T	7: 55,422,289 (GRCm39)	H298L	probably benign	Het
Sipa1	A	T	19: 5,701,704 (GRCm39)	L977Q	probably damaging	Het
Slc9c1	G	A	16: 45,403,332 (GRCm39)	V800I	probably benign	Het
Spata31e1	A	G	13: 49,943,547 (GRCm39)	S44P	possibly damaging	Het
Spata31f1a	C	T	4: 42,851,586 (GRCm39)	C190Y	probably benign	Het
Tbc1d8	C	T	1: 39,425,104 (GRCm39)	R582Q	probably damaging	Het
Tmem247	T	A	17: 87,229,728 (GRCm39)	F190I	probably damaging	Het
Trim42	C	A	9: 97,245,070 (GRCm39)	A577S	possibly damaging	Het
Ubiad1	G	A	4: 148,528,726 (GRCm39)	T61I	probably benign	Het
Usp40	G	A	1: 87,923,435 (GRCm39)	Q279*	probably null	Het
Usp48	A	G	4: 137,360,766 (GRCm39)	N733S	probably benign	Het
Vmn2r83	A	T	10: 79,314,261 (GRCm39)	I170F	probably benign	Het
Xkr4	G	A	1: 3,286,487 (GRCm39)	P568S	probably damaging	Het
Zc3h7b	T	C	15: 81,664,679 (GRCm39)	W513R	probably damaging	Het
Zfp40	T	C	17: 23,410,440 (GRCm39)		probably benign	Het
Zfp652	T	A	11: 95,640,935 (GRCm39)	S287T	possibly damaging	Het
Znrf3	G	A	11: 5,394,533 (GRCm39)	A49V	unknown	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
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
R9684:Or56a3	UTSW	7	104,735,589 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TGCTGAGACTCAAGGCAGAG -3'
(R):5'- GATGAAGCCAGGGATATTATTTTAGAG -3'

Sequencing Primer
(F):5'- GGGTGCTGTAGCCAAAGC -3'
(R):5'- CCACATTAGAATGTTCTGAGTTAGTG -3'

Posted On

2019-12-20