Mutagenetix > Incidental Mutation

Incidental Mutation 'R3873:Or5l13'

276651

Institutional Source

Beutler Lab

Gene Symbol

Or5l13

Ensembl Gene

ENSMUSG00000075144

Gene Name

olfactory receptor family 5 subfamily L member 13

Synonyms

Olfr1156, GA_x6K02T2Q125-49433499-49432537, MOR174-3

MMRRC Submission

040791-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R3873 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87779534-87780609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87779874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 234 (R234S)

Ref Sequence

ENSEMBL: ENSMUSP00000149665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099842] [ENSMUST00000215903] [ENSMUST00000216191] [ENSMUST00000216726]

AlphaFold

A2AVC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000099842
AA Change: R234S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097430
Gene: ENSMUSG00000075144
AA Change: R234S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.2e-47	PFAM
Pfam:7tm_1	41	290	1.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215903

Predicted Effect

probably damaging
Transcript: ENSMUST00000216191
AA Change: R234S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216726
AA Change: R234S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Acaca	A	G	11: 84,203,547 (GRCm39)		probably benign	Het
Adam5	T	C	8: 25,305,125 (GRCm39)	T110A	probably benign	Het
Agtpbp1	T	C	13: 59,608,410 (GRCm39)	M175V	possibly damaging	Het
Akt1	T	C	12: 112,622,967 (GRCm39)	N367S	probably benign	Het
Ankrd61	T	A	5: 143,828,646 (GRCm39)	T67S	probably damaging	Het
Arl8a	T	C	1: 135,080,610 (GRCm39)		probably null	Het
Arvcf	G	A	16: 18,221,783 (GRCm39)	R736Q	probably damaging	Het
Baz2a	T	A	10: 127,959,979 (GRCm39)	M1419K	probably damaging	Het
Cep295	A	T	9: 15,244,661 (GRCm39)	V1265E	probably damaging	Het
Cfap299	A	T	5: 98,885,482 (GRCm39)	I130F	probably damaging	Het
Cyp2c29	A	G	19: 39,317,588 (GRCm39)	D397G	probably damaging	Het
Dlgap4	T	C	2: 156,591,267 (GRCm39)	S818P	probably benign	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Dst	A	G	1: 34,328,701 (GRCm39)	T4590A	probably damaging	Het
Eif1ad10	T	C	12: 88,216,476 (GRCm39)	D132G	unknown	Het
Fscb	G	T	12: 64,519,906 (GRCm39)	P520Q	unknown	Het
Gli1	T	A	10: 127,167,225 (GRCm39)	N676I	probably damaging	Het
Hspg2	T	C	4: 137,266,660 (GRCm39)	I1916T	probably damaging	Het
Igfals	G	A	17: 25,100,579 (GRCm39)	V557I	possibly damaging	Het
Il7	A	T	3: 7,669,224 (GRCm39)	V4D	probably damaging	Het
Itgae	T	A	11: 73,004,442 (GRCm39)	I243N	probably damaging	Het
Itpa	T	G	2: 130,522,930 (GRCm39)	S176A	probably damaging	Het
Klhl13	T	C	X: 23,151,415 (GRCm39)	D21G	probably benign	Het
Krt26	T	C	11: 99,225,570 (GRCm39)	K304E	probably damaging	Het
Ly6g6e	T	C	17: 35,296,159 (GRCm39)	V10A	probably benign	Het
Morc3	G	A	16: 93,659,324 (GRCm39)	V411I	probably damaging	Het
Mrpl32	G	T	13: 14,787,630 (GRCm39)		probably benign	Het
Ncald	G	A	15: 37,397,497 (GRCm39)	A61V	probably damaging	Het
Nek2	T	C	1: 191,559,320 (GRCm39)	V275A	probably benign	Het
Or12d12	T	A	17: 37,610,870 (GRCm39)	T148S	probably benign	Het
Or4f6	T	C	2: 111,838,668 (GRCm39)	T288A	possibly damaging	Het
Or5m10b	T	A	2: 85,699,306 (GRCm39)	Y123*	probably null	Het
Pgam5	T	C	5: 110,413,465 (GRCm39)	Y210C	probably damaging	Het
Phf5a	T	C	15: 81,754,628 (GRCm39)	N50D	probably benign	Het
Prl7d1	A	G	13: 27,900,651 (GRCm39)	M1T	probably null	Het
Sacs	A	G	14: 61,429,735 (GRCm39)	K595R	possibly damaging	Het
Scyl3	A	G	1: 163,778,206 (GRCm39)	N448S	probably benign	Het
Serpinb9g	A	T	13: 33,670,518 (GRCm39)	D2V	probably benign	Het
Sgsh	A	G	11: 119,241,773 (GRCm39)	L111P	probably damaging	Het
Smg1	T	C	7: 117,753,885 (GRCm39)		probably benign	Het
Taar1	T	C	10: 23,796,482 (GRCm39)	L60P	probably damaging	Het
Tmem51	T	C	4: 141,759,059 (GRCm39)	T230A	probably damaging	Het
Ubr4	T	C	4: 139,151,301 (GRCm39)	V623A	probably damaging	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vipr2	T	C	12: 116,099,724 (GRCm39)		probably benign	Het
Vmn2r16	T	C	5: 109,488,177 (GRCm39)	M350T	probably benign	Het
Vmn2r22	T	C	6: 123,614,339 (GRCm39)	E417G	possibly damaging	Het
Vmn2r9	C	A	5: 108,995,701 (GRCm39)	V316F	probably benign	Het
Zfp53	C	T	17: 21,728,893 (GRCm39)	P309S	probably damaging	Het

Other mutations in Or5l13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Or5l13	APN	2	87,780,207 (GRCm39)	missense	probably damaging	0.99
IGL02831:Or5l13	APN	2	87,780,020 (GRCm39)	splice site	probably null
IGL03214:Or5l13	APN	2	87,780,415 (GRCm39)	missense	probably benign	0.16
R0285:Or5l13	UTSW	2	87,780,475 (GRCm39)	missense	probably damaging	0.98
R0926:Or5l13	UTSW	2	87,780,266 (GRCm39)	missense	probably damaging	1.00
R0987:Or5l13	UTSW	2	87,779,891 (GRCm39)	missense	probably benign	0.12
R1422:Or5l13	UTSW	2	87,780,439 (GRCm39)	missense	probably benign	0.00
R1958:Or5l13	UTSW	2	87,779,809 (GRCm39)	missense	probably damaging	1.00
R2239:Or5l13	UTSW	2	87,779,741 (GRCm39)	missense	probably damaging	1.00
R2380:Or5l13	UTSW	2	87,779,741 (GRCm39)	missense	probably damaging	1.00
R3872:Or5l13	UTSW	2	87,779,874 (GRCm39)	missense	probably damaging	1.00
R3874:Or5l13	UTSW	2	87,779,874 (GRCm39)	missense	probably damaging	1.00
R4526:Or5l13	UTSW	2	87,779,753 (GRCm39)	missense	probably benign	0.09
R5116:Or5l13	UTSW	2	87,779,873 (GRCm39)	missense	probably benign	0.03
R5985:Or5l13	UTSW	2	87,779,665 (GRCm39)	missense	probably benign	0.02
R5999:Or5l13	UTSW	2	87,780,145 (GRCm39)	splice site	probably null
R6127:Or5l13	UTSW	2	87,779,705 (GRCm39)	missense	probably damaging	1.00
R6259:Or5l13	UTSW	2	87,779,779 (GRCm39)	missense	probably benign	0.20
R6544:Or5l13	UTSW	2	87,780,335 (GRCm39)	missense	probably benign	0.35
R6556:Or5l13	UTSW	2	87,780,320 (GRCm39)	missense	probably benign	0.00
R6715:Or5l13	UTSW	2	87,780,335 (GRCm39)	missense	probably benign	0.35
R6951:Or5l13	UTSW	2	87,780,323 (GRCm39)	missense	possibly damaging	0.79
R7062:Or5l13	UTSW	2	87,780,568 (GRCm39)	missense	probably benign	0.01
R7142:Or5l13	UTSW	2	87,780,056 (GRCm39)	missense	probably benign	0.09
R7749:Or5l13	UTSW	2	87,779,822 (GRCm39)	missense	probably damaging	1.00
R7887:Or5l13	UTSW	2	87,780,224 (GRCm39)	missense	probably damaging	1.00
R8222:Or5l13	UTSW	2	87,779,788 (GRCm39)	missense	probably benign	0.00
R9594:Or5l13	UTSW	2	87,780,544 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACATCCTTATTCCTCAGACTGTAG -3'
(R):5'- TGCTTGGCCCTTGAGATCAC -3'

Sequencing Primer
(F):5'- CTGTAGATCAGGGGGTTCAGC -3'
(R):5'- GCCCTTGAGATCACATCATTTAAATC -3'

Posted On

2015-04-06