Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01883:Arl2'

179062

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arl2

Ensembl Gene

ENSMUSG00000024944

Gene Name

ADP-ribosylation factor-like 2

Synonyms

arf-like protein 2, 2610009M23Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL01883

Quality Score

Status

Chromosome

Chromosomal Location

6184419-6191167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6187521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 109 (L109P)

Ref Sequence

ENSEMBL: ENSMUSP00000025893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025893]

AlphaFold

Q9D0J4

PDB Structure

Complex of Arl2 and PDE delta, Crystal Form 1 [X-RAY DIFFRACTION]
Complex of Arl2 and PDE delta, Crystal Form 2 (native) [X-RAY DIFFRACTION]
Complex of Arl2 and PDE delta, Crystal Form 2 (SeMet) [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025893
AA Change: L109P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025893
Gene: ENSMUSG00000024944
AA Change: L109P

Domain	Start	End	E-Value	Type
ARF	1	180	8.03e-60	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134821

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox3	C	A	1: 58,177,442 (GRCm39)	P219Q	probably damaging	Het
Bhlha9	T	C	11: 76,563,924 (GRCm39)	S184P	probably benign	Het
C2cd3	G	A	7: 100,023,693 (GRCm39)	R93H	possibly damaging	Het
Cdcp1	A	G	9: 123,012,663 (GRCm39)	F295L	probably benign	Het
Cpsf7	A	T	19: 10,503,387 (GRCm39)	D6V	possibly damaging	Het
Fbxw28	A	T	9: 109,157,393 (GRCm39)	V285E	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm18025	T	A	12: 34,340,692 (GRCm39)	I134F	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Kif11	A	C	19: 37,372,791 (GRCm39)	T60P	probably benign	Het
Myo7b	T	C	18: 32,131,204 (GRCm39)	D521G	probably damaging	Het
Polg	A	G	7: 79,108,066 (GRCm39)	L583P	probably damaging	Het
Ppp6r1	A	T	7: 4,642,986 (GRCm39)		probably null	Het
Rmc1	G	A	18: 12,311,296 (GRCm39)	V125I	probably benign	Het
Snap91	A	T	9: 86,657,665 (GRCm39)	W509R	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Tmem79	T	C	3: 88,237,145 (GRCm39)	N353D	probably damaging	Het

Other mutations in Arl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Arl2	APN	19	6,191,082 (GRCm39)	missense	probably damaging	1.00
IGL00841:Arl2	APN	19	6,185,999 (GRCm39)	splice site	probably benign
R0833:Arl2	UTSW	19	6,186,052 (GRCm39)	missense	probably damaging	1.00
R1300:Arl2	UTSW	19	6,191,103 (GRCm39)	missense	probably benign	0.00
R3952:Arl2	UTSW	19	6,184,707 (GRCm39)	missense	probably benign	0.03
R4669:Arl2	UTSW	19	6,184,716 (GRCm39)	missense	probably damaging	1.00
R4692:Arl2	UTSW	19	6,187,776 (GRCm39)	missense	probably damaging	0.99
R5683:Arl2	UTSW	19	6,184,794 (GRCm39)	missense	probably benign
R6715:Arl2	UTSW	19	6,187,555 (GRCm39)	missense	probably damaging	1.00
R7027:Arl2	UTSW	19	6,191,119 (GRCm39)	missense	probably benign	0.00
R7100:Arl2	UTSW	19	6,184,774 (GRCm39)	missense	probably benign	0.01
R8212:Arl2	UTSW	19	6,187,596 (GRCm39)	missense	probably damaging	1.00
R8226:Arl2	UTSW	19	6,187,506 (GRCm39)	critical splice donor site	probably null

Posted On

2014-05-07