Mutagenetix > Incidental Mutation

Incidental Mutation 'R0826:Or4a77'

78211

Institutional Source

Beutler Lab

Gene Symbol

Or4a77

Ensembl Gene

ENSMUSG00000075078

Gene Name

olfactory receptor family 4 subfamily A member 77

Synonyms

GA_x6K02T2Q125-51098877-51097933, MOR231-7, Olfr1250

MMRRC Submission

039006-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89486839-89487783 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89487181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 201 (N201K)

Ref Sequence

ENSEMBL: ENSMUSP00000149720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099768] [ENSMUST00000111527] [ENSMUST00000215730]

AlphaFold

Q8VGM3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099768
AA Change: N201K

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097356
Gene: ENSMUSG00000075078
AA Change: N201K

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	1.1e-28	PFAM
Pfam:7tm_4	137	278	1e-38	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111527
AA Change: N201K

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107152
Gene: ENSMUSG00000075078
AA Change: N201K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.2e-50	PFAM
Pfam:7tm_1	39	285	8.1e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215730
AA Change: N201K

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.5%
3x: 98.6%
10x: 95.7%
20x: 86.3%

Validation Efficiency

100% (69/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4931406C07Rik	T	C	9: 15,203,292 (GRCm39)		probably null	Het
Adamts16	T	A	13: 70,916,811 (GRCm39)	D727V	possibly damaging	Het
Anxa10	A	C	8: 62,529,318 (GRCm39)	L133*	probably null	Het
Arfgef3	G	A	10: 18,465,414 (GRCm39)	T2143I	probably damaging	Het
Arhgef17	T	C	7: 100,579,950 (GRCm39)	T333A	probably benign	Het
Arhgef40	A	G	14: 52,238,450 (GRCm39)	T1310A	probably benign	Het
Atg10	C	T	13: 91,084,705 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,492,169 (GRCm39)	F569S	probably damaging	Het
Baiap3	A	G	17: 25,464,203 (GRCm39)	W849R	possibly damaging	Het
Baz1a	A	T	12: 54,977,097 (GRCm39)	Y9*	probably null	Het
Catsperg2	C	T	7: 29,405,049 (GRCm39)	D702N	possibly damaging	Het
Clasrp	G	T	7: 19,318,226 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Col19a1	T	C	1: 24,565,467 (GRCm39)	K288R	unknown	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cttnbp2	A	G	6: 18,405,177 (GRCm39)		probably benign	Het
Dnah1	T	A	14: 31,025,864 (GRCm39)	I828F	probably benign	Het
Dpf2	G	T	19: 5,957,155 (GRCm39)	Q23K	probably damaging	Het
Dsc3	T	A	18: 20,114,229 (GRCm39)	I342F	probably damaging	Het
Enpp3	A	G	10: 24,671,614 (GRCm39)	L460P	probably damaging	Het
Epb41l2	A	G	10: 25,380,090 (GRCm39)	E871G	probably damaging	Het
Exoc2	T	C	13: 31,040,780 (GRCm39)		probably null	Het
Fam243	G	A	16: 92,118,075 (GRCm39)	S71L	probably benign	Het
Fpr-rs7	A	T	17: 20,333,888 (GRCm39)	S201T	probably benign	Het
Gtf2ird2	T	C	5: 134,245,797 (GRCm39)	F685S	probably damaging	Het
Helz2	C	T	2: 180,882,646 (GRCm39)	R49H	possibly damaging	Het
Ica1	A	G	6: 8,667,375 (GRCm39)		probably benign	Het
Ift56	A	G	6: 38,402,049 (GRCm39)		probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kif21a	A	G	15: 90,881,744 (GRCm39)		probably null	Het
Lamb3	T	A	1: 193,013,216 (GRCm39)	C480*	probably null	Het
Lamc2	A	G	1: 153,027,828 (GRCm39)	S199P	probably damaging	Het
Lrfn3	T	C	7: 30,059,676 (GRCm39)	N183S	probably benign	Het
Lsm14a	C	A	7: 34,070,470 (GRCm39)		probably benign	Het
Mest	C	A	6: 30,742,813 (GRCm39)	H146Q	probably damaging	Het
Mmp27	T	C	9: 7,579,010 (GRCm39)	V339A	probably damaging	Het
Myo16	T	C	8: 10,426,285 (GRCm39)		probably benign	Het
Myoz1	C	T	14: 20,703,679 (GRCm39)		probably benign	Het
Nlrp5	A	G	7: 23,117,133 (GRCm39)	M286V	probably benign	Het
Optc	T	C	1: 133,832,893 (GRCm39)	K69R	probably benign	Het
Or13c3	C	T	4: 52,855,566 (GRCm39)	V316I	probably benign	Het
Or2y1c	A	T	11: 49,361,158 (GRCm39)	Y60F	probably damaging	Het
Or8g18	C	T	9: 39,149,725 (GRCm39)	M1I	probably null	Het
Osbpl3	A	T	6: 50,323,357 (GRCm39)	M242K	probably damaging	Het
Pdzd9	T	A	7: 120,267,624 (GRCm39)	S64C	probably damaging	Het
Pik3cg	A	G	12: 32,245,672 (GRCm39)	S859P	possibly damaging	Het
Ppp1r12a	G	T	10: 108,066,414 (GRCm39)	A202S	possibly damaging	Het
Rab32	A	T	10: 10,426,611 (GRCm39)	F112I	possibly damaging	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rtn3	A	G	19: 7,445,245 (GRCm39)		probably benign	Het
Sbk1	C	T	7: 125,891,007 (GRCm39)	P147L	probably damaging	Het
Shpk	T	A	11: 73,094,857 (GRCm39)	M91K	probably damaging	Het
Slco6c1	C	T	1: 97,055,826 (GRCm39)	S25N	probably benign	Het
Snx2	A	T	18: 53,327,594 (GRCm39)	T107S	probably benign	Het
Tle2	G	A	10: 81,422,148 (GRCm39)	V397I	possibly damaging	Het
Tmem131l	T	C	3: 83,805,724 (GRCm39)	D1573G	probably damaging	Het
Tnfrsf8	A	G	4: 145,011,708 (GRCm39)		probably benign	Het
Tpmt	T	C	13: 47,194,965 (GRCm39)	E36G	probably benign	Het
Trim30c	T	A	7: 104,032,688 (GRCm39)	T257S	probably benign	Het
Tsc2	A	G	17: 24,815,932 (GRCm39)	L150P	probably benign	Het
Upf3a	G	C	8: 13,848,338 (GRCm39)	G378A	possibly damaging	Het
Yeats2	A	T	16: 20,011,966 (GRCm39)	K514*	probably null	Het
Zfp11	A	G	5: 129,734,589 (GRCm39)	Y291H	probably benign	Het
Zfp457	T	C	13: 67,441,378 (GRCm39)	D399G	possibly damaging	Het

Other mutations in Or4a77

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Or4a77	APN	2	89,487,420 (GRCm39)	missense	probably damaging	0.98
IGL01608:Or4a77	APN	2	89,486,835 (GRCm39)	utr 3 prime	probably benign
IGL01913:Or4a77	APN	2	89,487,684 (GRCm39)	missense	probably benign	0.01
IGL02458:Or4a77	APN	2	89,487,692 (GRCm39)	missense	probably damaging	1.00
R0102:Or4a77	UTSW	2	89,486,999 (GRCm39)	missense	probably benign	0.10
R0621:Or4a77	UTSW	2	89,487,459 (GRCm39)	nonsense	probably null
R5460:Or4a77	UTSW	2	89,487,414 (GRCm39)	missense	probably damaging	1.00
R5720:Or4a77	UTSW	2	89,487,299 (GRCm39)	missense	probably benign	0.20
R6044:Or4a77	UTSW	2	89,487,516 (GRCm39)	missense	probably damaging	1.00
R6965:Or4a77	UTSW	2	89,487,009 (GRCm39)	missense	probably damaging	1.00
R7069:Or4a77	UTSW	2	89,486,910 (GRCm39)	missense	probably benign	0.00
R7305:Or4a77	UTSW	2	89,486,846 (GRCm39)	missense	probably benign
R8058:Or4a77	UTSW	2	89,487,671 (GRCm39)	missense	probably benign	0.01
R9487:Or4a77	UTSW	2	89,487,731 (GRCm39)	missense	probably damaging	0.99
R9583:Or4a77	UTSW	2	89,487,005 (GRCm39)	missense	possibly damaging	0.96
Z1177:Or4a77	UTSW	2	89,487,278 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGGCTTATATCCACTGCACTCAC -3'
(R):5'- GGATTTGCACATGCTCTGCTTCAAG -3'

Sequencing Primer
(F):5'- GCAAACCTCTTTCAAAGTCAAGTG -3'
(R):5'- GCACATGCTCTGCTTCAAGTTATC -3'

Posted On

2013-10-16