Mutagenetix > Incidental Mutation

Incidental Mutation 'R4866:Or56a4'

374913

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

042476-MU

Accession Numbers

Essential gene?

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

Stock #

R4866 (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 104806514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 125 (Y125C)

Ref Sequence

ENSEMBL: ENSMUSP00000150107 (fasta)

Gene Model

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

AlphaFold

Q7TRN8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060893
AA Change: Y125C

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055880
Gene: ENSMUSG00000047225
AA Change: Y125C

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

possibly damaging
Transcript: ENSMUST00000215552
AA Change: Y125C

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215744
AA Change: Y125C

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217136
AA Change: Y125C

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.3718

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (79/80)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Abcc5	A	T	16: 20,241,182 (GRCm39)	M1K	probably null	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adam5	A	C	8: 25,232,172 (GRCm39)		probably null	Het
Adam5	G	A	8: 25,271,619 (GRCm39)	T596I	probably damaging	Het
Apoa2	T	C	1: 171,053,369 (GRCm39)		probably null	Het
Atad1	A	T	19: 32,679,964 (GRCm39)	H79Q	probably benign	Het
Atp8a2	T	C	14: 59,928,916 (GRCm39)	D1046G	probably damaging	Het
Bcam	A	G	7: 19,499,397 (GRCm39)	Y209H	probably benign	Het
Brpf1	G	A	6: 113,299,431 (GRCm39)	V1120I	probably damaging	Het
Catsperb	G	A	12: 101,474,208 (GRCm39)	C302Y	probably damaging	Het
Cbl	A	G	9: 44,064,166 (GRCm39)	V790A	probably benign	Het
Ccdc60	T	C	5: 116,310,549 (GRCm39)	D171G	probably damaging	Het
Cd300c2	A	T	11: 114,891,807 (GRCm39)	C22*	probably null	Het
Cdan1	C	A	2: 120,561,928 (GRCm39)		probably benign	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cfap410	T	A	10: 77,817,413 (GRCm39)		probably null	Het
Cfap65	T	C	1: 74,964,716 (GRCm39)	D479G	probably damaging	Het
Cmbl	A	G	15: 31,585,490 (GRCm39)	K113E	probably benign	Het
Cog6	G	A	3: 52,918,019 (GRCm39)	T173I	probably benign	Het
Cts6	T	A	13: 61,350,090 (GRCm39)		probably null	Het
Cyp11a1	G	A	9: 57,933,380 (GRCm39)	V413M	probably damaging	Het
Cyp2c39	G	A	19: 39,502,020 (GRCm39)	M136I	probably benign	Het
Dclre1b	A	T	3: 103,715,412 (GRCm39)	Y29N	probably damaging	Het
Depdc1a	T	A	3: 159,221,764 (GRCm39)	I236K	probably damaging	Het
Dhx36	A	T	3: 62,380,198 (GRCm39)	Y833N	probably damaging	Het
Dop1b	G	T	16: 93,560,318 (GRCm39)		probably null	Het
Elovl3	A	G	19: 46,120,603 (GRCm39)	E32G	possibly damaging	Het
Entrep1	A	G	19: 23,952,790 (GRCm39)	S507P	possibly damaging	Het
Epcam	T	C	17: 87,951,049 (GRCm39)	V212A	possibly damaging	Het
Fcrl2	A	T	3: 87,170,773 (GRCm39)	C4S	possibly damaging	Het
Galnt16	T	C	12: 80,630,851 (GRCm39)	Y310H	probably damaging	Het
Gm12789	G	A	4: 101,846,182 (GRCm39)		probably benign	Het
Gspt1	C	T	16: 11,040,529 (GRCm39)	R593H	possibly damaging	Het
Hmcn2	A	T	2: 31,279,403 (GRCm39)	T1802S	possibly damaging	Het
Igha	A	G	12: 113,223,129 (GRCm39)	V166A	probably benign	Het
Itfg2	A	G	6: 128,393,279 (GRCm39)		probably benign	Het
Jund	T	C	8: 71,152,254 (GRCm39)	V183A	probably damaging	Het
Katnb1	T	C	8: 95,824,132 (GRCm39)	S471P	possibly damaging	Het
Kazn	A	G	4: 141,832,216 (GRCm39)	F661S	unknown	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Lgr5	C	T	10: 115,288,590 (GRCm39)	V661I	probably benign	Het
Lvrn	G	T	18: 47,026,768 (GRCm39)	A789S	probably damaging	Het
Mapk10	T	C	5: 103,111,391 (GRCm39)	D351G	probably damaging	Het
Mga	T	A	2: 119,794,535 (GRCm39)	C2622S	possibly damaging	Het
Mios	T	G	6: 8,214,857 (GRCm39)	F18V	probably damaging	Het
Mllt6	A	G	11: 97,565,285 (GRCm39)	D575G	probably damaging	Het
Mmp10	G	A	9: 7,508,190 (GRCm39)	V439M	probably damaging	Het
Myh4	A	G	11: 67,139,453 (GRCm39)	D590G	probably benign	Het
Ndufs2	C	T	1: 171,074,618 (GRCm39)	G14R	probably benign	Het
Or10ad1b	T	A	15: 98,125,371 (GRCm39)	I52F	probably damaging	Het
Or51a7	A	T	7: 102,614,927 (GRCm39)	M207L	probably benign	Het
Or8g26	A	G	9: 39,096,367 (GRCm39)	K298E	probably damaging	Het
Plau	G	T	14: 20,887,872 (GRCm39)	V39L	probably benign	Het
Ppp3cb	A	G	14: 20,573,911 (GRCm39)	C275R	probably damaging	Het
Ppp4r4	T	G	12: 103,566,706 (GRCm39)	M51R	possibly damaging	Het
Prr5	A	G	15: 84,626,105 (GRCm39)	Y60C	probably damaging	Het
Ptprt	T	C	2: 161,402,159 (GRCm39)	D1023G	probably damaging	Het
Raly	T	A	2: 154,703,816 (GRCm39)	V129E	probably damaging	Het
Rsph10b	A	G	5: 143,885,347 (GRCm39)	E249G	probably benign	Het
Sart1	A	C	19: 5,432,248 (GRCm39)	L577W	probably damaging	Het
Senp1	T	C	15: 97,964,729 (GRCm39)	E189G	possibly damaging	Het
Slc22a2	G	T	17: 12,803,316 (GRCm39)	C50F	probably damaging	Het
Spem1	A	T	11: 69,711,755 (GRCm39)	V303E	probably damaging	Het
Tgfb3	A	G	12: 86,124,588 (GRCm39)	V40A	possibly damaging	Het
Ttl	T	C	2: 128,923,147 (GRCm39)	S163P	probably damaging	Het
Ttll9	C	A	2: 152,844,920 (GRCm39)	N429K	probably benign	Het
Uggt1	G	A	1: 36,241,936 (GRCm39)	R333*	probably null	Het
Zfhx2	A	G	14: 55,302,993 (GRCm39)	S1664P	possibly damaging	Het
Zfp51	T	A	17: 21,682,012 (GRCm39)	D70E	possibly damaging	Het
Zfp592	T	A	7: 80,691,607 (GRCm39)	V1262E	probably damaging	Het
Zfp595	C	A	13: 67,465,760 (GRCm39)	G168C	probably damaging	Het
Zswim9	A	T	7: 12,995,095 (GRCm39)	S354T	probably 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
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
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'- AATGTCATCACAGGAGAGCC -3'
(R):5'- AGCCCATGTACTACCTGCTC -3'

Sequencing Primer
(F):5'- ACACTGACAGGTTGGTGC -3'
(R):5'- ATGTACTACCTGCTCAGCCTTCTG -3'

Posted On

2016-03-17