Mutagenetix > Incidental Mutation

Incidental Mutation 'R5985:Or5l13'

481588

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

044165-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R5985 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87779534-87780609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87779665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 304 (M304T)

Ref Sequence

ENSEMBL: ENSMUSP00000149665 (fasta)

Gene Model

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

AlphaFold

A2AVC3

Predicted Effect

probably benign
Transcript: ENSMUST00000099842
AA Change: M304T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000097430
Gene: ENSMUSG00000075144
AA Change: M304T

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 benign
Transcript: ENSMUST00000216191
AA Change: M304T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000216726
AA Change: M304T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

96% (47/49)

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
Abca13	A	C	11: 9,241,628 (GRCm39)	I1164L	probably benign	Het
Actn1	C	A	12: 80,215,169 (GRCm39)	G864V	probably damaging	Het
Adgrf1	T	C	17: 43,604,146 (GRCm39)	I34T	probably benign	Het
Ankrd10	T	A	8: 11,669,077 (GRCm39)	K225*	probably null	Het
Ankrd29	G	A	18: 12,412,832 (GRCm39)	A115V	probably damaging	Het
Armh3	A	T	19: 45,808,763 (GRCm39)	Y643N	probably damaging	Het
Atg2a	A	G	19: 6,304,667 (GRCm39)	T1175A	probably damaging	Het
Atp12a	A	G	14: 56,621,798 (GRCm39)	D781G	probably damaging	Het
B4galnt3	G	A	6: 120,187,119 (GRCm39)	P759S	probably damaging	Het
Card10	T	C	15: 78,675,411 (GRCm39)	I448V	probably benign	Het
Col15a1	T	C	4: 47,284,507 (GRCm39)	F821L	probably damaging	Het
Cpeb3	T	C	19: 37,064,952 (GRCm39)	Y498C	probably damaging	Het
Defb37	A	T	8: 19,036,347 (GRCm39)	C58S	probably damaging	Het
Faap20	T	C	4: 155,334,797 (GRCm39)		probably benign	Het
Frem1	C	T	4: 82,884,287 (GRCm39)	V1204I	probably benign	Het
Gal3st2	T	C	1: 93,801,335 (GRCm39)	V46A	possibly damaging	Het
Gan	C	T	8: 117,922,557 (GRCm39)	S430L	possibly damaging	Het
Gas2	T	A	7: 51,593,424 (GRCm39)	I168K	probably damaging	Het
Gli3	A	G	13: 15,898,140 (GRCm39)	D740G	probably damaging	Het
Gm3898	G	A	9: 43,741,329 (GRCm39)		noncoding transcript	Het
Gria4	T	C	9: 4,503,593 (GRCm39)	Q341R	probably damaging	Het
Herpud1	G	A	8: 95,117,422 (GRCm39)	R2Q	probably damaging	Het
Klf15	G	A	6: 90,443,703 (GRCm39)	G93R	possibly damaging	Het
Mtmr7	A	G	8: 41,004,873 (GRCm39)	F568L	probably benign	Het
Myod1	A	G	7: 46,027,222 (GRCm39)	Y229C	probably damaging	Het
Or12e14	A	G	2: 87,187,949 (GRCm39)	I54V	probably benign	Het
Phf11b	A	G	14: 59,559,027 (GRCm39)	L235P	possibly damaging	Het
Pira1	C	A	7: 3,740,316 (GRCm39)	G302C	probably damaging	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Prox1	A	T	1: 189,879,152 (GRCm39)	F675L	possibly damaging	Het
Rnf144a	C	T	12: 26,367,779 (GRCm39)	E176K	probably benign	Het
Safb2	T	C	17: 56,870,181 (GRCm39)	E965G	possibly damaging	Het
Sik3	A	G	9: 46,122,973 (GRCm39)	N874S	probably damaging	Het
Slitrk3	T	C	3: 72,958,233 (GRCm39)	I180V	probably damaging	Het
Speg	T	C	1: 75,383,328 (GRCm39)	V1141A	possibly damaging	Het
Spns1	G	A	7: 125,975,902 (GRCm39)	T84I	probably benign	Het
Syne2	C	G	12: 76,012,933 (GRCm39)	P2709R	probably damaging	Het
Terb1	A	T	8: 105,178,439 (GRCm39)	S662T	probably benign	Het
Terb1	A	G	8: 105,208,948 (GRCm39)	S377P	probably damaging	Het
Tph1	A	G	7: 46,303,205 (GRCm39)	Y258H	probably damaging	Het
Trip12	T	A	1: 84,703,492 (GRCm39)	E1881D	probably damaging	Het
Trpc7	A	G	13: 56,958,358 (GRCm39)	L412P	probably damaging	Het
Ttll13	C	T	7: 79,904,386 (GRCm39)	A337V	probably damaging	Het
Ugt2b1	T	C	5: 87,067,527 (GRCm39)	K344E	possibly damaging	Het
Vmn1r36	T	A	6: 66,693,855 (GRCm39)	I7F	probably benign	Het
Vmn2r14	A	T	5: 109,368,082 (GRCm39)	N303K	possibly damaging	Het
Vmn2r25	A	G	6: 123,800,587 (GRCm39)	V585A	probably benign	Het
Zan	A	C	5: 137,444,299 (GRCm39)		probably null	Het
Zfp423	A	T	8: 88,508,774 (GRCm39)	N502K	possibly damaging	Het
Zfp473	C	T	7: 44,382,752 (GRCm39)	R526Q	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
R3873: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
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

Posted On

2017-06-26