Mutagenetix > Incidental Mutation

Incidental Mutation 'R0360:Or5a1'

30073

Institutional Source

Beutler Lab

Gene Symbol

Or5a1

Ensembl Gene

ENSMUSG00000067522

Gene Name

olfactory receptor family 5 subfamily A member 1

Synonyms

GA_x6K02T2RE5P-2479601-2478648, V5, Olfr76, MOR215-3

MMRRC Submission

038566-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R0360 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12097085-12098038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12097217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 286 (D286E)

Ref Sequence

ENSEMBL: ENSMUSP00000154269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087822] [ENSMUST00000208391] [ENSMUST00000213471] [ENSMUST00000214103] [ENSMUST00000214676]

AlphaFold

A0A2I3BR00

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087822
AA Change: D274E

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000085124
Gene: ENSMUSG00000067522
AA Change: D274E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	9.2e-54	PFAM
Pfam:7tm_1	44	293	5.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208391

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213471
AA Change: D286E

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000214103

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214676
AA Change: D274E

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216205

Meta Mutation Damage Score

0.1852

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

98% (93/95)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,310,553 (GRCm39)		probably benign	Het
Adcyap1r1	G	T	6: 55,452,508 (GRCm39)		probably benign	Het
Ankrd6	T	C	4: 32,836,424 (GRCm39)	T44A	probably damaging	Het
Ano7	A	G	1: 93,316,380 (GRCm39)	D221G	probably benign	Het
Bhlhe40	C	A	6: 108,641,711 (GRCm39)	N218K	probably damaging	Het
Bms1	A	G	6: 118,382,251 (GRCm39)	V429A	probably benign	Het
C7	T	A	15: 5,018,444 (GRCm39)	T800S	probably benign	Het
Camta2	G	A	11: 70,574,136 (GRCm39)	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,627,282 (GRCm39)	N665I	probably damaging	Het
Ccdc157	T	C	11: 4,096,663 (GRCm39)	E362G	probably damaging	Het
Ccdc73	T	A	2: 104,811,352 (GRCm39)	N310K	probably damaging	Het
Cfap91	T	A	16: 38,118,659 (GRCm39)		probably null	Het
Cmklr1	A	T	5: 113,752,578 (GRCm39)	L141H	probably damaging	Het
Cnst	C	A	1: 179,407,100 (GRCm39)	A49E	probably benign	Het
Col5a3	C	T	9: 20,683,762 (GRCm39)	R1498Q	unknown	Het
Crybb3	T	A	5: 113,223,819 (GRCm39)	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,504,155 (GRCm39)	P97S	probably benign	Het
Cubn	T	C	2: 13,315,318 (GRCm39)		probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,253 (GRCm39)		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,290,117 (GRCm39)	N223K	probably benign	Het
D16Ertd472e	A	T	16: 78,344,773 (GRCm39)	C112S	probably benign	Het
Dennd2a	T	C	6: 39,485,233 (GRCm39)	T349A	probably benign	Het
Dock5	G	A	14: 68,060,129 (GRCm39)		probably benign	Het
Dpp6	T	C	5: 27,857,267 (GRCm39)	L404P	probably damaging	Het
Dsc3	T	A	18: 20,104,639 (GRCm39)	T563S	possibly damaging	Het
Dync2h1	T	A	9: 7,113,182 (GRCm39)	E214D	possibly damaging	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,748,663 (GRCm39)	K503*	probably null	Het
Eng	T	C	2: 32,569,149 (GRCm39)	S559P	probably benign	Het
Epc2	T	A	2: 49,427,145 (GRCm39)	V563E	possibly damaging	Het
Fancm	A	G	12: 65,122,724 (GRCm39)	Y82C	probably damaging	Het
Flt4	A	T	11: 49,527,818 (GRCm39)	M924L	probably benign	Het
Gabpa	T	A	16: 84,654,275 (GRCm39)	N317K	possibly damaging	Het
Gchfr	T	G	2: 118,998,327 (GRCm39)	Y3*	probably null	Het
Gli3	G	T	13: 15,899,349 (GRCm39)	G912V	probably benign	Het
Gm10295	C	A	7: 71,000,361 (GRCm39)	C73F	unknown	Het
Gm10382	G	T	5: 125,466,728 (GRCm39)		probably benign	Het
Gp1ba	T	C	11: 70,531,284 (GRCm39)		probably benign	Het
Gpr146	G	A	5: 139,364,933 (GRCm39)		probably benign	Het
Hexd	T	A	11: 121,102,969 (GRCm39)	H62Q	probably benign	Het
Hgd	T	A	16: 37,431,546 (GRCm39)		probably benign	Het
Hs6st1	G	A	1: 36,108,266 (GRCm39)		probably null	Het
Icam4	A	G	9: 20,941,117 (GRCm39)	Y123C	probably damaging	Het
Il24	A	G	1: 130,811,674 (GRCm39)	V134A	probably damaging	Het
Iqcb1	G	T	16: 36,692,670 (GRCm39)	A562S	probably damaging	Het
Iqgap2	A	C	13: 95,867,783 (GRCm39)		probably benign	Het
Islr2	T	C	9: 58,107,027 (GRCm39)	T78A	possibly damaging	Het
Kif1b	A	G	4: 149,347,186 (GRCm39)	I330T	probably damaging	Het
Kirrel1	T	C	3: 86,997,106 (GRCm39)	Y287C	probably damaging	Het
Klf10	C	T	15: 38,297,090 (GRCm39)	V317M	probably benign	Het
Klhl9	T	G	4: 88,638,527 (GRCm39)	K571N	probably benign	Het
Lin37	T	C	7: 30,256,438 (GRCm39)	I97V	possibly damaging	Het
Lrrc37a	C	T	11: 103,391,466 (GRCm39)	V1320I	possibly damaging	Het
Lrrc74a	A	G	12: 86,784,569 (GRCm39)	H99R	probably damaging	Het
Me3	T	A	7: 89,435,622 (GRCm39)		probably null	Het
Med13	T	C	11: 86,219,987 (GRCm39)		probably benign	Het
Myh6	A	T	14: 55,185,804 (GRCm39)	Y1490*	probably null	Het
Myo10	T	C	15: 25,804,454 (GRCm39)	L1583P	probably damaging	Het
Nkx6-3	A	G	8: 23,647,722 (GRCm39)	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,004,830 (GRCm39)		probably benign	Het
Nlrp5-ps	A	C	7: 14,317,016 (GRCm39)		noncoding transcript	Het
Nup188	T	G	2: 30,216,491 (GRCm39)	I765S	probably null	Het
Obscn	G	A	11: 59,019,107 (GRCm39)	A969V	probably benign	Het
Or11a4	T	C	17: 37,536,934 (GRCm39)	L306P	possibly damaging	Het
Or1j19	T	A	2: 36,677,452 (GRCm39)	M305K	probably benign	Het
Or8k33	A	T	2: 86,384,123 (GRCm39)	L115Q	probably damaging	Het
Otogl	T	A	10: 107,606,511 (GRCm39)		probably benign	Het
Pcnx3	G	A	19: 5,715,611 (GRCm39)	R1472W	probably damaging	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plscr4	T	A	9: 92,370,814 (GRCm39)		probably benign	Het
Pon2	G	A	6: 5,266,156 (GRCm39)	Q288*	probably null	Het
Ptpn13	C	A	5: 103,681,214 (GRCm39)	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,735,992 (GRCm39)	V62D	probably damaging	Het
Rab37	G	T	11: 115,047,790 (GRCm39)	C44F	probably damaging	Het
Rbm44	T	C	1: 91,080,069 (GRCm39)	S52P	probably benign	Het
Rgl3	A	G	9: 21,888,153 (GRCm39)	W454R	probably damaging	Het
Rita1	A	G	5: 120,747,837 (GRCm39)	S154P	probably benign	Het
Scn5a	T	C	9: 119,351,665 (GRCm39)	D772G	probably damaging	Het
Sec23ip	G	A	7: 128,363,129 (GRCm39)		probably benign	Het
Skic8	A	T	9: 54,634,862 (GRCm39)		probably benign	Het
Slc23a1	T	A	18: 35,756,032 (GRCm39)		probably benign	Het
Slco1a8	A	C	6: 141,928,053 (GRCm39)		probably benign	Het
Sparcl1	T	A	5: 104,237,503 (GRCm39)	D444V	probably damaging	Het
Taar6	C	A	10: 23,861,046 (GRCm39)	V167L	probably benign	Het
Tmcc3	T	A	10: 94,414,407 (GRCm39)	N36K	probably benign	Het
Tmem200c	T	A	17: 69,147,543 (GRCm39)	V42E	probably damaging	Het
Trhde	T	C	10: 114,338,887 (GRCm39)		probably benign	Het
Tshz3	A	G	7: 36,469,958 (GRCm39)	E649G	probably benign	Het
Utp4	T	C	8: 107,625,169 (GRCm39)		probably benign	Het
Vmn1r30	A	G	6: 58,412,262 (GRCm39)	V190A	probably benign	Het
Vmn1r35	A	G	6: 66,655,827 (GRCm39)	I281T	probably damaging	Het
Vmn1r58	G	T	7: 5,413,329 (GRCm39)	H300Q	probably benign	Het
Vmn1r84	A	G	7: 12,095,799 (GRCm39)	L286P	probably damaging	Het
Vmn2r54	A	T	7: 12,349,576 (GRCm39)	C669S	probably damaging	Het
Zfp623	T	C	15: 75,820,510 (GRCm39)	S489P	probably benign	Het

Other mutations in Or5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Or5a1	APN	19	12,097,240 (GRCm39)	missense	probably damaging	1.00
IGL01693:Or5a1	APN	19	12,097,921 (GRCm39)	missense	probably benign
R0399:Or5a1	UTSW	19	12,097,734 (GRCm39)	missense	possibly damaging	0.67
R0467:Or5a1	UTSW	19	12,097,900 (GRCm39)	missense	probably benign	0.01
R0750:Or5a1	UTSW	19	12,098,077 (GRCm39)	splice site	probably null
R1432:Or5a1	UTSW	19	12,097,603 (GRCm39)	missense	possibly damaging	0.56
R1535:Or5a1	UTSW	19	12,097,696 (GRCm39)	missense	probably damaging	1.00
R4739:Or5a1	UTSW	19	12,097,234 (GRCm39)	missense	possibly damaging	0.65
R4767:Or5a1	UTSW	19	12,097,300 (GRCm39)	missense	probably damaging	1.00
R5032:Or5a1	UTSW	19	12,097,420 (GRCm39)	missense	probably benign	0.00
R5367:Or5a1	UTSW	19	12,097,800 (GRCm39)	missense	possibly damaging	0.90
R6363:Or5a1	UTSW	19	12,097,530 (GRCm39)	missense	possibly damaging	0.60
R6426:Or5a1	UTSW	19	12,097,212 (GRCm39)	missense	probably benign	0.04
R7162:Or5a1	UTSW	19	12,097,501 (GRCm39)	missense	possibly damaging	0.60
R7224:Or5a1	UTSW	19	12,097,912 (GRCm39)	missense	probably benign	0.00
R7565:Or5a1	UTSW	19	12,097,375 (GRCm39)	missense	probably benign	0.01
R7739:Or5a1	UTSW	19	12,097,909 (GRCm39)	missense	probably damaging	1.00
R7863:Or5a1	UTSW	19	12,097,974 (GRCm39)	missense	possibly damaging	0.77
R8387:Or5a1	UTSW	19	12,097,785 (GRCm39)	missense	probably damaging	1.00
R8440:Or5a1	UTSW	19	12,097,308 (GRCm39)	missense	probably damaging	1.00
R8672:Or5a1	UTSW	19	12,097,921 (GRCm39)	missense	probably benign	0.04
R8736:Or5a1	UTSW	19	12,097,309 (GRCm39)	missense	probably damaging	1.00
R8790:Or5a1	UTSW	19	12,097,906 (GRCm39)	missense	probably damaging	1.00
R9314:Or5a1	UTSW	19	12,097,144 (GRCm39)	missense	probably benign	0.40
R9573:Or5a1	UTSW	19	12,097,509 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCGTGTGTGCCTCCAGTACAGTAG -3'
(R):5'- CCTCAGCCAAGTGGTGAATTTCCTC -3'

Sequencing Primer
(F):5'- CCTCCAGTACAGTAGAGGAGTATG -3'
(R):5'- CCAAGTGGTGAATTTCCTCATAGTG -3'

Posted On

2013-04-24