Mutagenetix > Incidental Mutation

Incidental Mutation 'R6363:Or5a1'

512610

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

044513-MU

Accession Numbers

Essential gene?

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

Stock #

R6363 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12097085-12098038 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12097530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 182 (H182L)

Ref Sequence

ENSEMBL: ENSMUSP00000154269 (fasta)

Gene Model

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

AlphaFold

A0A2I3BR00

Predicted Effect

probably benign
Transcript: ENSMUST00000087822
AA Change: H170L

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000085124
Gene: ENSMUSG00000067522
AA Change: H170L

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: H182L

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000214103

Predicted Effect

probably benign
Transcript: ENSMUST00000214676
AA Change: H170L

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216205

Meta Mutation Damage Score

0.1475

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

Validation Efficiency

98% (51/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	A	G	4: 111,423,982 (GRCm39)		probably benign	Het
Antxrl	G	T	14: 33,791,244 (GRCm39)	C379F	probably damaging	Het
Camsap3	T	C	8: 3,651,971 (GRCm39)	C256R	probably damaging	Het
Ccdc33	T	C	9: 58,021,618 (GRCm39)	E254G	probably benign	Het
Ccndbp1	C	T	2: 120,843,454 (GRCm39)	P282L	probably damaging	Het
Col5a1	C	T	2: 27,818,207 (GRCm39)	T144I	unknown	Het
Csmd2	A	T	4: 128,294,172 (GRCm39)	H1167L	probably benign	Het
Ctsk	A	T	3: 95,408,862 (GRCm39)	T82S	probably damaging	Het
Cyp3a41b	A	T	5: 145,507,197 (GRCm39)	F248I	probably damaging	Het
Dchs1	A	G	7: 105,407,679 (GRCm39)	I2051T	probably benign	Het
Dnah17	A	G	11: 118,001,331 (GRCm39)	F871L	probably benign	Het
Eif2b4	A	G	5: 31,348,583 (GRCm39)	V210A	probably damaging	Het
Eral1	A	G	11: 77,965,143 (GRCm39)	I385T	probably damaging	Het
Ercc8	T	C	13: 108,320,404 (GRCm39)	L330P	probably damaging	Het
Etfa	A	G	9: 55,407,417 (GRCm39)	V24A	probably damaging	Het
Fcrl1	A	T	3: 87,292,475 (GRCm39)	I156F	probably damaging	Het
Gm7298	A	G	6: 121,765,565 (GRCm39)	Y1465C	probably damaging	Het
Gpr17	A	G	18: 32,080,625 (GRCm39)	L146P	probably damaging	Het
Gpr171	A	G	3: 59,005,313 (GRCm39)	I154T	possibly damaging	Het
Hid1	T	A	11: 115,243,422 (GRCm39)	Y542F	probably damaging	Het
Hspa8	T	C	9: 40,714,361 (GRCm39)	V219A	probably damaging	Het
Klhl24	C	T	16: 19,938,933 (GRCm39)	T496I	possibly damaging	Het
Krtcap2	T	C	3: 89,156,413 (GRCm39)	S64P	probably damaging	Het
Msh3	C	A	13: 92,349,032 (GRCm39)	D1066Y	probably damaging	Het
Naaladl2	C	T	3: 24,389,481 (GRCm39)	G323R	possibly damaging	Het
Nbas	A	G	12: 13,532,577 (GRCm39)	T1762A	probably benign	Het
Nr4a1	C	T	15: 101,171,996 (GRCm39)	R557C	probably damaging	Het
Ogfrl1	T	A	1: 23,409,194 (GRCm39)	H344L	probably benign	Het
Or13a25	T	A	7: 140,247,995 (GRCm39)	F265Y	possibly damaging	Het
Or5p55	A	G	7: 107,566,957 (GRCm39)	M118V	possibly damaging	Het
Or9k7	A	C	10: 130,046,906 (GRCm39)	V31G	possibly damaging	Het
Orm2	G	A	4: 63,280,841 (GRCm39)		probably null	Het
Patj	T	A	4: 98,320,097 (GRCm39)	S455T	probably benign	Het
Pdgfra	G	T	5: 75,331,497 (GRCm39)	V336L	possibly damaging	Het
Prkaa1	T	C	15: 5,206,437 (GRCm39)	L431S	probably damaging	Het
Ptgfrn	A	G	3: 100,952,894 (GRCm39)	V780A	possibly damaging	Het
Rb1	A	T	14: 73,525,081 (GRCm39)	V184E	probably benign	Het
Rev1	T	A	1: 38,110,570 (GRCm39)	H560L	probably damaging	Het
Serpinb13	A	T	1: 106,928,504 (GRCm39)	R375*	probably null	Het
Slc8a2	C	A	7: 15,867,970 (GRCm39)	D67E	probably benign	Het
Sos2	A	T	12: 69,678,885 (GRCm39)	N307K	probably benign	Het
Srgap2	G	A	1: 131,226,206 (GRCm39)	R36W	probably damaging	Het
Tas2r119	G	T	15: 32,178,034 (GRCm39)	W200L	possibly damaging	Het
Tep1	T	G	14: 51,062,005 (GRCm39)	K2575T	probably benign	Het
Ttc36	T	A	9: 44,710,936 (GRCm39)	R131S	probably damaging	Het
Ttyh3	A	T	5: 140,620,979 (GRCm39)	L195Q	probably damaging	Het
Uba7	G	A	9: 107,857,382 (GRCm39)		probably null	Het
Utp20	A	C	10: 88,592,942 (GRCm39)	V2249G	probably damaging	Het
Wwc2	A	T	8: 48,340,197 (GRCm39)		probably null	Het
Zdhhc21	A	T	4: 82,765,911 (GRCm39)	V8D	probably damaging	Het
Zfp719	A	G	7: 43,239,290 (GRCm39)	T293A	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
R0360:Or5a1	UTSW	19	12,097,217 (GRCm39)	missense	possibly damaging	0.84
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
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'- TGTTGAAGGCTTTCCACCG -3'
(R):5'- TTGGGCCTAACTGAGTGCTTC -3'

Sequencing Primer
(F):5'- GCCTCTCACAGAGTGGATCTTCAAG -3'
(R):5'- AACTGAGTGCTTCCTGCTGACAG -3'

Posted On

2018-04-27