Mutagenetix > Incidental Mutation

Incidental Mutation 'R2929:Neurl2'

254943

Institutional Source

Beutler Lab

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 #

R2929 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164672652-164675376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164675264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 33 (N33D)

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

probably benign
Transcript: ENSMUST00000017904

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

possibly damaging
Transcript: ENSMUST00000042775
AA Change: N33D

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041806
Gene: ENSMUSG00000039873
AA Change: N33D

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

noncoding transcript
Transcript: ENSMUST00000146525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141411

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140213

Predicted Effect

probably benign
Transcript: ENSMUST00000151493

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

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd177	G	A	7: 24,453,704 (GRCm39)	Q396*	probably null	Het
Cdadc1	A	T	14: 59,835,284 (GRCm39)	M1K	probably null	Het
Cdc23	ACC	AC	18: 34,770,371 (GRCm39)		probably null	Het
Cnnm3	T	A	1: 36,563,140 (GRCm39)	F701L	possibly damaging	Het
Cul7	C	G	17: 46,962,526 (GRCm39)	D52E	probably benign	Het
Dennd4a	T	C	9: 64,759,699 (GRCm39)	V268A	possibly damaging	Het
Deup1	C	T	9: 15,486,484 (GRCm39)	V399I	probably benign	Het
Dscam	T	A	16: 96,486,612 (GRCm39)	Q1021L	possibly damaging	Het
Dst	A	T	1: 34,206,143 (GRCm39)	K932*	probably null	Het
Pnma8b	T	C	7: 16,680,617 (GRCm39)	S534P	possibly damaging	Het
Pole2	G	A	12: 69,256,712 (GRCm39)	T271M	probably benign	Het
Ppfibp2	A	G	7: 107,296,858 (GRCm39)	M191V	probably damaging	Het
Rad51ap2	A	G	12: 11,507,185 (GRCm39)	Q369R	probably benign	Het
Rbm45	A	G	2: 76,208,763 (GRCm39)	I300V	probably benign	Het
Ro60	G	A	1: 143,633,616 (GRCm39)	A494V	possibly damaging	Het
Sco1	T	A	11: 66,954,748 (GRCm39)	I251K	probably damaging	Het
Spmip4	G	A	6: 50,551,285 (GRCm39)	T388I	probably benign	Het
Zfp202	T	C	9: 40,122,984 (GRCm39)	V582A	possibly damaging	Het
Zfp219	T	A	14: 52,246,436 (GRCm39)	E230D	probably benign	Het

Other mutations in Neurl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02274:Neurl2	APN	2	164,675,012 (GRCm39)	missense	probably damaging	1.00
R1458:Neurl2	UTSW	2	164,674,666 (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

Predicted Primers

PCR Primer
(F):5'- TGAAAACTCGGGTACAGCGG -3'
(R):5'- GGGAAATGCCTTACATGGTTC -3'

Sequencing Primer
(F):5'- TACAGCGGCCAGACTGG -3'
(R):5'- TGGTTCATCCACCCCGC -3'

Posted On

2014-12-29