Mutagenetix > Incidental Mutation

Incidental Mutation 'R5504:Or56a4'

430826

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

043065-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R5504 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104805949-104806887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104806383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 169 (K169E)

Ref Sequence

ENSEMBL: ENSMUSP00000150107 (fasta)

Gene Model

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

AlphaFold

Q7TRN8

Predicted Effect

probably benign
Transcript: ENSMUST00000060893
AA Change: K169E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000055880
Gene: ENSMUSG00000047225
AA Change: K169E

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: K169E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000215744
AA Change: K169E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000217136
AA Change: K169E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.6%

Validation Efficiency

99% (69/70)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	C	T	8: 44,078,319 (GRCm39)	C635Y	probably damaging	Het
Akr1b7	A	G	6: 34,396,453 (GRCm39)		probably null	Het
Amy2a1	T	G	3: 113,325,318 (GRCm39)	D92A	probably benign	Het
Angel2	A	G	1: 190,676,083 (GRCm39)	T455A	probably damaging	Het
Angptl2	T	C	2: 33,119,050 (GRCm39)		probably benign	Het
Ankrd40	A	G	11: 94,219,153 (GRCm39)	E25G	probably benign	Het
Asb18	T	A	1: 89,920,746 (GRCm39)	D136V	probably damaging	Het
Asphd1	T	C	7: 126,545,350 (GRCm39)	I336V	possibly damaging	Het
Birc6	C	T	17: 74,962,208 (GRCm39)	P58S	probably damaging	Het
Bsx	A	T	9: 40,785,460 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,488,843 (GRCm39)	L1965P	probably benign	Het
Capza3	A	T	6: 139,988,165 (GRCm39)	I255L	probably benign	Het
Ccdc185	G	T	1: 182,575,192 (GRCm39)	A499E	probably damaging	Het
Cfhr4	A	T	1: 139,629,558 (GRCm39)	S749T	probably benign	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Colgalt2	G	A	1: 152,276,054 (GRCm39)	V56M	possibly damaging	Het
Dennd1b	A	T	1: 139,018,246 (GRCm39)	T197S	probably benign	Het
Dhx30	A	G	9: 109,914,278 (GRCm39)	Y1000H	probably benign	Het
Dlg2	C	T	7: 92,091,865 (GRCm39)	A910V	probably damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dock5	T	C	14: 68,040,535 (GRCm39)	D884G	probably benign	Het
Fhad1	A	G	4: 141,712,846 (GRCm39)	S198P	probably benign	Het
Gabpa	T	C	16: 84,649,446 (GRCm39)	S218P	probably benign	Het
Gm17654	A	T	14: 43,815,494 (GRCm39)	N104K	unknown	Het
Gm4775	T	C	14: 106,338,389 (GRCm39)		noncoding transcript	Het
Gvin3	T	A	7: 106,201,951 (GRCm39)		noncoding transcript	Het
Heatr1	T	A	13: 12,421,500 (GRCm39)	S467T	possibly damaging	Het
Hecw1	A	G	13: 14,515,487 (GRCm39)	M215T	probably benign	Het
Hmgn2	A	T	4: 133,694,114 (GRCm39)		probably benign	Het
Kncn	T	A	4: 115,742,062 (GRCm39)	I43N	possibly damaging	Het
Lgals3bp	G	T	11: 118,284,811 (GRCm39)	T256N	probably benign	Het
Mpi	T	C	9: 57,452,500 (GRCm39)	D344G	probably damaging	Het
Myom2	G	A	8: 15,178,879 (GRCm39)	E1304K	probably damaging	Het
Npat	T	A	9: 53,481,564 (GRCm39)	F1091I	probably benign	Het
Nrcam	T	G	12: 44,610,915 (GRCm39)		probably null	Het
Or2a7	T	A	6: 43,151,572 (GRCm39)	Y217*	probably null	Het
Or4c114	C	T	2: 88,905,024 (GRCm39)	R137Q	probably benign	Het
Pappa2	A	G	1: 158,675,615 (GRCm39)	S1044P	probably benign	Het
Pcnx4	T	C	12: 72,621,222 (GRCm39)	L1014S	probably damaging	Het
Pear1	G	A	3: 87,660,002 (GRCm39)		probably benign	Het
Piwil2	T	A	14: 70,627,348 (GRCm39)	Y797F	probably benign	Het
Ppp2r1b	T	G	9: 50,770,187 (GRCm39)	L81R	probably damaging	Het
Pxdn	C	A	12: 30,052,800 (GRCm39)	H812Q	probably damaging	Het
Rad21l	A	T	2: 151,510,357 (GRCm39)	F33I	probably damaging	Het
Rgs13	A	T	1: 144,015,358 (GRCm39)	C120S	possibly damaging	Het
Rp1	G	A	1: 4,420,113 (GRCm39)	T333M	probably damaging	Het
Sema6d	T	A	2: 124,499,941 (GRCm39)	V339E	probably damaging	Het
Serpina3i	T	A	12: 104,232,862 (GRCm39)	Y256N	probably damaging	Het
Slc13a1	A	T	6: 24,150,743 (GRCm39)	M65K	possibly damaging	Het
Slco6d1	A	G	1: 98,349,064 (GRCm39)	K45R	probably damaging	Het
Src	T	C	2: 157,306,641 (GRCm39)	Y215H	probably damaging	Het
Synj2	T	C	17: 6,086,750 (GRCm39)	V384A	possibly damaging	Het
Tmeff1	T	C	4: 48,650,396 (GRCm39)	S285P	probably damaging	Het
Vmn2r125	A	G	4: 156,703,456 (GRCm39)	D278G	possibly damaging	Het
Vmn2r45	T	C	7: 8,486,176 (GRCm39)	K371E	probably benign	Het
Zfp866	A	T	8: 70,218,341 (GRCm39)	H426Q	probably benign	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
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
R7594:Or56a4	UTSW	7	104,806,880 (GRCm39)	missense	probably benign
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'- ACATGTGCTCAGGGCTTTGG -3'
(R):5'- GTTTCCTGACGATGGAGTCCTG -3'

Sequencing Primer
(F):5'- TTTGATCCTGAGCACAACACGG -3'
(R):5'- GATGGAGTCCTGCACCTTCATG -3'

Posted On

2016-10-05