Mutagenetix > Incidental Mutation

Incidental Mutation 'R7594:Or56a4'

587626

Institutional Source

Beutler Lab

Gene Symbol

Or56a4

Ensembl Gene

ENSMUSG00000047225

Gene Name

olfactory receptor family 56 subfamily A member 4

Synonyms

GA_x6K02T2PBJ9-7786441-7785503, Olfr684, MOR40-8P

MMRRC Submission

045670-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7594 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104805949-104806887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104806880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 3 (L3S)

Ref Sequence

ENSEMBL: ENSMUSP00000149627 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060893] [ENSMUST00000215552] [ENSMUST00000215744] [ENSMUST00000217136]

AlphaFold

Q7TRN8

Predicted Effect

probably benign
Transcript: ENSMUST00000060893
AA Change: L3S

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

SMART Domains

Protein: ENSMUSP00000055880
Gene: ENSMUSG00000047225
AA Change: L3S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	4.6e-73	PFAM
Pfam:7TM_GPCR_Srsx	37	307	7e-8	PFAM
Pfam:7tm_1	43	294	1.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215552
AA Change: L3S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215744
AA Change: L3S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000217136
AA Change: L3S

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Acsm3	A	G	7: 119,384,213 (GRCm39)		probably null	Het
Acvr2a	T	A	2: 48,784,749 (GRCm39)	L345*	probably null	Het
App	T	C	16: 84,876,890 (GRCm39)	D167G	unknown	Het
Arhgef33	A	G	17: 80,677,734 (GRCm39)	D427G	probably damaging	Het
Arid2	T	C	15: 96,288,875 (GRCm39)	S1675P	probably damaging	Het
Atp8a1	T	C	5: 67,808,935 (GRCm39)	Y985C		Het
AW209491	A	G	13: 14,811,831 (GRCm39)	D228G	probably benign	Het
Casc3	G	A	11: 98,712,311 (GRCm39)	A117T	probably benign	Het
Cass4	C	T	2: 172,271,568 (GRCm39)	P645S	probably benign	Het
Ccar2	A	T	14: 70,379,243 (GRCm39)	Y553*	probably null	Het
Cox16	A	T	12: 81,521,352 (GRCm39)		probably null	Het
Cpeb3	A	T	19: 37,151,551 (GRCm39)	V275E	possibly damaging	Het
Dido1	A	G	2: 180,316,905 (GRCm39)	V634A	probably benign	Het
Dnajb1	G	A	8: 84,336,473 (GRCm39)	S81N	probably benign	Het
Dst	A	G	1: 34,252,094 (GRCm39)	K2262E	probably damaging	Het
Eya3	T	C	4: 132,422,136 (GRCm39)	V237A	probably benign	Het
Fbxo31	T	A	8: 122,279,107 (GRCm39)	D460V	probably damaging	Het
Fcgbpl1	T	C	7: 27,830,885 (GRCm39)	C33R	probably damaging	Het
Gabrg3	A	T	7: 56,632,443 (GRCm39)	N168K	possibly damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Gm10134	T	C	2: 28,396,372 (GRCm39)	M89T	unknown	Het
Kif17	T	C	4: 138,005,236 (GRCm39)	L267P	probably damaging	Het
Ksr2	C	A	5: 117,693,131 (GRCm39)	T193N	possibly damaging	Het
Lmtk2	T	C	5: 144,110,564 (GRCm39)	L428P	probably damaging	Het
Mdn1	G	T	4: 32,696,359 (GRCm39)	L1247F	probably benign	Het
Med24	T	C	11: 98,605,923 (GRCm39)	Y323C	probably damaging	Het
Mthfd2	A	G	6: 83,283,665 (GRCm39)	V339A	probably benign	Het
Mtus2	G	T	5: 148,014,216 (GRCm39)	R336S	probably benign	Het
Muc16	T	C	9: 18,556,358 (GRCm39)	T3312A	unknown	Het
Nacad	A	G	11: 6,552,457 (GRCm39)	S245P	probably damaging	Het
Nacc1	T	C	8: 85,401,631 (GRCm39)	D394G	probably damaging	Het
Nfatc2	A	G	2: 168,365,268 (GRCm39)	V582A	probably damaging	Het
Nid2	T	A	14: 19,818,791 (GRCm39)	D428E	probably benign	Het
Or10ag57	A	G	2: 87,218,613 (GRCm39)	H188R	probably damaging	Het
Or4a80	T	A	2: 89,582,906 (GRCm39)	T89S	probably benign	Het
Osbpl5	A	T	7: 143,247,534 (GRCm39)	L768Q	probably benign	Het
Plch2	C	T	4: 155,091,484 (GRCm39)	V210I	probably damaging	Het
Plekhh1	C	T	12: 79,123,277 (GRCm39)	T1153I	possibly damaging	Het
Ppp1r14c	T	C	10: 3,316,670 (GRCm39)	S2P	possibly damaging	Het
Pramel26	A	T	4: 143,539,286 (GRCm39)	I69N	probably damaging	Het
Psmd5	G	T	2: 34,750,741 (GRCm39)	H239Q	probably benign	Het
Ptcd2	C	A	13: 99,456,790 (GRCm39)	A345S	possibly damaging	Het
Sap30l	G	A	11: 57,700,947 (GRCm39)		probably null	Het
Sec14l2	A	G	11: 4,061,213 (GRCm39)	Y83H	probably damaging	Het
Slc2a9	A	G	5: 38,508,634 (GRCm39)	I470T	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Syne1	A	G	10: 5,165,190 (GRCm39)		probably null	Het
Tg	T	A	15: 66,601,432 (GRCm39)	D1766E	probably benign	Het
Tlr12	T	C	4: 128,511,473 (GRCm39)	E259G	probably benign	Het
Tlr6	T	C	5: 65,110,594 (GRCm39)	Y771C	probably damaging	Het
Tnrc6b	T	A	15: 80,764,508 (GRCm39)	V670E	possibly damaging	Het
Top2b	A	G	14: 16,428,587 (GRCm38)	T1522A	probably benign	Het
Tpcn1	A	G	5: 120,694,595 (GRCm39)	M158T	possibly damaging	Het
Ttn	T	C	2: 76,557,186 (GRCm39)	I29940V	probably benign	Het
Ttn	G	A	2: 76,581,698 (GRCm39)	T23065I	probably damaging	Het
Umodl1	A	G	17: 31,173,779 (GRCm39)	S20G	probably benign	Het
Uts2r	G	T	11: 121,052,191 (GRCm39)	V352F	possibly damaging	Het
Vmn1r67	T	A	7: 10,181,342 (GRCm39)	M202K	possibly damaging	Het
Vmn2r107	T	C	17: 20,580,635 (GRCm39)	V524A	probably benign	Het
Zc3h12d	C	A	10: 7,738,382 (GRCm39)	D229E	probably damaging	Het
Zfp541	A	G	7: 15,810,311 (GRCm39)	D116G	probably damaging	Het
Zfp971	A	G	2: 177,675,793 (GRCm39)	E464G	possibly damaging	Het

Other mutations in Or56a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01615:Or56a4	APN	7	104,806,667 (GRCm39)	missense	probably benign	0.02
R0056:Or56a4	UTSW	7	104,806,329 (GRCm39)	missense	probably benign	0.19
R1773:Or56a4	UTSW	7	104,806,190 (GRCm39)	missense	probably benign	0.01
R2098:Or56a4	UTSW	7	104,806,478 (GRCm39)	missense	probably benign	0.03
R2295:Or56a4	UTSW	7	104,806,532 (GRCm39)	missense	probably benign	0.02
R3831:Or56a4	UTSW	7	104,806,589 (GRCm39)	missense	probably damaging	1.00
R4866:Or56a4	UTSW	7	104,806,514 (GRCm39)	missense	possibly damaging	0.95
R5058:Or56a4	UTSW	7	104,806,355 (GRCm39)	missense	probably damaging	1.00
R5504:Or56a4	UTSW	7	104,806,383 (GRCm39)	missense	probably benign	0.01
R7434:Or56a4	UTSW	7	104,806,106 (GRCm39)	missense	probably damaging	0.96
R7442:Or56a4	UTSW	7	104,806,289 (GRCm39)	missense	probably damaging	1.00
R7759:Or56a4	UTSW	7	104,806,232 (GRCm39)	missense	probably damaging	1.00
R7787:Or56a4	UTSW	7	104,806,401 (GRCm39)	missense	probably benign	0.01
R8230:Or56a4	UTSW	7	104,806,631 (GRCm39)	missense	probably damaging	0.99
R8677:Or56a4	UTSW	7	104,806,775 (GRCm39)	missense	probably benign	0.04
R9398:Or56a4	UTSW	7	104,806,006 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCAGGTAGTACATGGGCTC -3'
(R):5'- GCCATATTCCAAGCTATTCAGGAAG -3'

Sequencing Primer
(F):5'- TCATGCAGAGAGGCCTCC -3'
(R):5'- TGAAGTATTCAGTATAGTGCTCTTTG -3'

Posted On

2019-10-24