Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02274:Neurl2'

287284

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Neurl2

Ensembl Gene

ENSMUSG00000039873

Gene Name

neuralized E3 ubiquitin protein ligase 2

Synonyms

Ozz-E3, Ozz

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02274

Quality Score

Status

Chromosome

Chromosomal Location

164672652-164675376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 164675012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 117 (R117S)

Ref Sequence

ENSEMBL: ENSMUSP00000041806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017904] [ENSMUST00000017911] [ENSMUST00000042775] [ENSMUST00000103092] [ENSMUST00000103093] [ENSMUST00000127650] [ENSMUST00000151493] [ENSMUST00000143780] [ENSMUST00000152721]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000017904
Gene: ENSMUSG00000017760

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
Pfam:Peptidase_S10	52	489	2.5e-140	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000017911

SMART Domains

Protein: ENSMUSP00000017911
Gene: ENSMUSG00000017767

Domain	Start	End	E-Value	Type
Pfam:SPATA25	1	226	3.2e-144	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000042775
AA Change: R117S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041806
Gene: ENSMUSG00000039873
AA Change: R117S

Domain	Start	End	E-Value	Type
Pfam:Neuralized	25	90	1.1e-27	PFAM
SOCS_box	248	285	3.77e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103092

SMART Domains

Protein: ENSMUSP00000099381
Gene: ENSMUSG00000017760

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Peptidase_S10	34	471	1.7e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103093

SMART Domains

Protein: ENSMUSP00000099382
Gene: ENSMUSG00000017760

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Peptidase_S10	34	471	1.7e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127650

SMART Domains

Protein: ENSMUSP00000115514
Gene: ENSMUSG00000017760

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Peptidase_S10	34	215	9.4e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128596

Predicted Effect

probably benign
Transcript: ENSMUST00000151493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141411

Predicted Effect

probably benign
Transcript: ENSMUST00000143780

SMART Domains

Protein: ENSMUSP00000123413
Gene: ENSMUSG00000017760

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Peptidase_S10	34	144	2.1e-52	PFAM
Pfam:Peptidase_S10	141	208	1.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152721

SMART Domains

Protein: ENSMUSP00000119814
Gene: ENSMUSG00000017760

Domain	Start	End	E-Value	Type
Pfam:Peptidase_S10	45	227	1.7e-77	PFAM

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 protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous null mice display myofiber abnormalities in skeletal muscle and decreased body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef10	A	G	8: 14,997,205 (GRCm39)	D48G	probably damaging	Het
Asnsd1	T	C	1: 53,386,734 (GRCm39)	I298V	probably benign	Het
Cacna2d3	G	T	14: 28,678,827 (GRCm39)		probably null	Het
Cbs	T	C	17: 31,844,922 (GRCm39)		probably null	Het
Ccm2	C	A	11: 6,540,808 (GRCm39)	T216K	probably damaging	Het
Galc	C	T	12: 98,220,473 (GRCm39)	W131*	probably null	Het
Gemin5	T	C	11: 58,047,621 (GRCm39)	R318G	possibly damaging	Het
Gsta3	T	G	1: 21,320,012 (GRCm39)	V6G	possibly damaging	Het
Hdlbp	A	T	1: 93,336,229 (GRCm39)		probably null	Het
Igkv13-55-1	T	G	6: 69,577,132 (GRCm39)		noncoding transcript	Het
Il17rd	A	G	14: 26,821,867 (GRCm39)	Y387C	probably damaging	Het
Katnip	A	G	7: 125,369,742 (GRCm39)		probably null	Het
Kmt2e	C	T	5: 23,705,758 (GRCm39)	T1344I	probably benign	Het
L3mbtl4	A	C	17: 69,071,579 (GRCm39)	H502P	probably benign	Het
Lrig1	A	T	6: 94,640,919 (GRCm39)	N95K	possibly damaging	Het
Nos1	G	A	5: 118,035,845 (GRCm39)	A449T	probably damaging	Het
Noxa1	A	T	2: 24,975,767 (GRCm39)	V435E	probably benign	Het
Parp9	C	T	16: 35,768,317 (GRCm39)	R166W	probably damaging	Het
Pdzd2	A	G	15: 12,445,735 (GRCm39)	I158T	probably damaging	Het
Pip5k1c	T	C	10: 81,142,218 (GRCm39)	Y143H	probably damaging	Het
Qrfpr	A	G	3: 36,276,285 (GRCm39)	V35A	probably damaging	Het
Rab3gap1	T	G	1: 127,866,817 (GRCm39)	S881A	probably benign	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Scai	G	A	2: 38,992,329 (GRCm39)		probably benign	Het
Skic2	T	A	17: 35,064,839 (GRCm39)	I418F	probably damaging	Het
Tenm4	A	C	7: 96,503,941 (GRCm39)	H1300P	probably damaging	Het
Tmppe	A	G	9: 114,234,499 (GRCm39)	H266R	probably benign	Het
Wdr11	A	T	7: 129,232,896 (GRCm39)		probably null	Het
Xirp2	A	G	2: 67,338,995 (GRCm39)	E412G	probably benign	Het
Zan	A	G	5: 137,419,429 (GRCm39)	V2910A	unknown	Het

Other mutations in Neurl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1458:Neurl2	UTSW	2	164,674,666 (GRCm39)	missense	possibly damaging	0.95
R2929:Neurl2	UTSW	2	164,675,264 (GRCm39)	missense	possibly damaging	0.95
R3033:Neurl2	UTSW	2	164,674,975 (GRCm39)	missense	probably benign	0.02
R4849:Neurl2	UTSW	2	164,674,739 (GRCm39)	splice site	probably null
R4959:Neurl2	UTSW	2	164,675,122 (GRCm39)	splice site	probably null
R4973:Neurl2	UTSW	2	164,675,122 (GRCm39)	splice site	probably null
R5360:Neurl2	UTSW	2	164,675,021 (GRCm39)	missense	probably damaging	1.00
R5885:Neurl2	UTSW	2	164,674,811 (GRCm39)	missense	probably damaging	1.00
R8698:Neurl2	UTSW	2	164,675,054 (GRCm39)	missense	probably benign	0.10
R8701:Neurl2	UTSW	2	164,675,054 (GRCm39)	missense	probably benign	0.10

Posted On

2015-04-16