Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01396:Or5l13'

79439

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5l13

Ensembl Gene

ENSMUSG00000075144

Gene Name

olfactory receptor family 5 subfamily L member 13

Synonyms

Olfr1156, GA_x6K02T2Q125-49433499-49432537, MOR174-3

Accession Numbers

Essential gene?

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

Stock #

IGL01396

Quality Score

Status

Chromosome

Chromosomal Location

87779534-87780609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87780207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 123 (F123L)

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: F123L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097430
Gene: ENSMUSG00000075144
AA Change: F123L

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: F123L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216726
AA Change: F123L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,120,649 (GRCm39)	Y469N	probably benign	Het
Actl11	T	C	9: 107,805,964 (GRCm39)	S96P	possibly damaging	Het
Ankrd13b	T	A	11: 77,363,198 (GRCm39)		probably null	Het
Apobec4	T	A	1: 152,632,017 (GRCm39)	I15K	probably damaging	Het
Arhgef28	G	T	13: 98,090,401 (GRCm39)	D1039E	probably damaging	Het
Atp1a1	C	T	3: 101,498,769 (GRCm39)	G175R	probably damaging	Het
AU040320	T	A	4: 126,763,171 (GRCm39)		probably benign	Het
Bcl9l	G	A	9: 44,418,121 (GRCm39)	R653H	probably damaging	Het
Ccdc141	T	A	2: 76,958,669 (GRCm39)	I144L	possibly damaging	Het
Cdh20	C	T	1: 104,875,154 (GRCm39)	T312I	possibly damaging	Het
Cdh23	C	T	10: 60,220,848 (GRCm39)	V1297I	possibly damaging	Het
Cfap57	T	C	4: 118,467,792 (GRCm39)	Y315C	probably damaging	Het
Chd8	A	G	14: 52,442,044 (GRCm39)		probably benign	Het
Cog5	A	G	12: 31,944,095 (GRCm39)	D660G	probably benign	Het
Cps1	T	C	1: 67,196,945 (GRCm39)	I332T	probably damaging	Het
Csgalnact2	T	C	6: 118,103,288 (GRCm39)	T225A	probably damaging	Het
Dchs1	A	G	7: 105,421,490 (GRCm39)	L310P	probably damaging	Het
Dgki	T	C	6: 36,977,025 (GRCm39)	N695S	probably damaging	Het
Gas7	T	A	11: 67,543,740 (GRCm39)		probably null	Het
Gm21286	T	C	4: 60,794,323 (GRCm39)		noncoding transcript	Het
Gm4799	C	T	10: 82,790,518 (GRCm39)		noncoding transcript	Het
Hdac4	T	C	1: 91,887,196 (GRCm39)		probably benign	Het
Hif1a	T	A	12: 73,987,307 (GRCm39)	S467T	probably benign	Het
Ier5	A	G	1: 154,974,296 (GRCm39)	V294A	probably damaging	Het
Ifna11	T	C	4: 88,738,314 (GRCm39)	V40A	probably benign	Het
Itga9	T	C	9: 118,436,191 (GRCm39)		probably benign	Het
Lbx1	G	T	19: 45,222,670 (GRCm39)	Q118K	probably benign	Het
Lta	A	T	17: 35,423,061 (GRCm39)		probably null	Het
Matr3	A	G	18: 35,721,442 (GRCm39)	Y471C	probably damaging	Het
Nrg2	A	T	18: 36,178,905 (GRCm39)		probably benign	Het
Or4c103	C	T	2: 88,513,575 (GRCm39)	C167Y	probably damaging	Het
Or4k51	T	C	2: 111,584,848 (GRCm39)	F85L	probably benign	Het
Or4k51	T	A	2: 111,584,948 (GRCm39)	M118K	probably damaging	Het
Patl1	A	G	19: 11,901,247 (GRCm39)	K299R	probably damaging	Het
Pdgfrb	A	G	18: 61,205,736 (GRCm39)	E574G	probably damaging	Het
Phf3	G	A	1: 30,843,386 (GRCm39)	Q1858*	probably null	Het
Prkca	T	C	11: 107,905,148 (GRCm39)	K197E	possibly damaging	Het
Psmc6	C	A	14: 45,581,124 (GRCm39)	Q307K	probably benign	Het
Rasa1	T	C	13: 85,406,561 (GRCm39)	I181V	probably benign	Het
Scel	A	G	14: 103,845,530 (GRCm39)		probably benign	Het
Scn5a	A	T	9: 119,363,770 (GRCm39)	S457T	probably damaging	Het
Sesn3	A	G	9: 14,232,374 (GRCm39)	T216A	probably benign	Het
Slc25a21	A	G	12: 57,205,974 (GRCm39)	V19A	probably benign	Het
Slc34a1	A	G	13: 55,550,546 (GRCm39)	T81A	probably damaging	Het
Slc35a5	A	G	16: 44,971,866 (GRCm39)	Y117H	probably damaging	Het
Sptbn4	A	G	7: 27,114,196 (GRCm39)	V569A	probably benign	Het
Sqle	A	G	15: 59,195,723 (GRCm39)	Y333C	probably damaging	Het
Svep1	T	C	4: 58,068,552 (GRCm39)	E3078G	possibly damaging	Het
Tacc2	T	A	7: 130,360,919 (GRCm39)	I2737N	probably damaging	Het
Tet3	A	T	6: 83,346,620 (GRCm39)	Y1272*	probably null	Het
Tnr	G	T	1: 159,724,594 (GRCm39)	R1095L	possibly damaging	Het
Vmn1r184	T	C	7: 25,966,862 (GRCm39)	S203P	probably damaging	Het
Vmn2r94	A	G	17: 18,477,301 (GRCm39)	L370P	probably damaging	Het
Xrcc5	A	G	1: 72,393,404 (GRCm39)	H559R	probably benign	Het

Other mutations in Or5l13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-05