Mutagenetix > Incidental Mutation

Incidental Mutation 'R5885:Neurl2'

456024

Institutional Source

Beutler Lab

Gene Symbol

Neurl2

Ensembl Gene

ENSMUSG00000039873

Gene Name

neuralized E3 ubiquitin protein ligase 2

Synonyms

Ozz-E3, Ozz

MMRRC Submission

043237-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5885 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

164672652-164675376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 164674811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 184 (T184A)

Ref Sequence

ENSEMBL: ENSMUSP00000041806 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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: T184A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041806
Gene: ENSMUSG00000039873
AA Change: T184A

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: ENSMUST00000130959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141411

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143293

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: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.8%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot10	T	A	15: 20,666,190 (GRCm39)	M184L	probably benign	Het
Adgrv1	A	T	13: 81,572,390 (GRCm39)	S4924T	probably benign	Het
Atp10a	T	A	7: 58,463,548 (GRCm39)	M1027K	possibly damaging	Het
Axl	T	A	7: 25,466,277 (GRCm39)	K510I	probably damaging	Het
Azi2	T	A	9: 117,876,628 (GRCm39)	I48N	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Dnah3	T	C	7: 119,668,927 (GRCm39)	I720V	probably benign	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Epas1	A	G	17: 87,134,972 (GRCm39)	D535G	probably damaging	Het
Fam47e	A	G	5: 92,713,827 (GRCm39)	K152R	probably damaging	Het
Fbxl3	A	T	14: 103,320,667 (GRCm39)	I260K	probably benign	Het
Fcgr3	A	G	1: 170,885,280 (GRCm39)	V115A	probably damaging	Het
Fgf12	G	T	16: 28,217,046 (GRCm39)	D98E	possibly damaging	Het
Flt3	T	C	5: 147,286,439 (GRCm39)	T716A	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gpr141b	A	T	13: 19,913,519 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,579,769 (GRCm39)	Y165H	possibly damaging	Het
Ifna4	T	A	4: 88,760,599 (GRCm39)	W168R	probably damaging	Het
Itga11	A	G	9: 62,670,132 (GRCm39)	Y752C	probably damaging	Het
Khdrbs3	A	G	15: 68,896,547 (GRCm39)		probably null	Het
Kif24	A	T	4: 41,423,463 (GRCm39)	Y263N	probably damaging	Het
Lama5	G	T	2: 179,843,624 (GRCm39)	T441K	probably damaging	Het
Lrrc47	T	A	4: 154,100,429 (GRCm39)	V335D	possibly damaging	Het
Map1b	A	T	13: 99,566,589 (GRCm39)	I2044N	unknown	Het
Mast2	C	T	4: 116,172,035 (GRCm39)	G638S	probably damaging	Het
Myo9a	T	C	9: 59,778,503 (GRCm39)	S1420P	probably benign	Het
Nfatc3	A	G	8: 106,822,944 (GRCm39)	I577V	probably benign	Het
Nipal3	A	T	4: 135,199,288 (GRCm39)	V186E	probably damaging	Het
Pgbd5	G	A	8: 125,111,205 (GRCm39)	T162M	probably damaging	Het
Plod2	T	A	9: 92,488,709 (GRCm39)		probably null	Het
Psg22	T	A	7: 18,452,257 (GRCm39)	L19Q	probably damaging	Het
Psg27	T	A	7: 18,295,711 (GRCm39)	N245Y	probably damaging	Het
Ptprc	T	A	1: 138,016,246 (GRCm39)	I539F	probably damaging	Het
Rad1	T	C	15: 10,488,143 (GRCm39)	L59P	probably damaging	Het
Slc2a9	G	A	5: 38,598,017 (GRCm39)	R137W	probably damaging	Het
Spats2l	C	T	1: 57,985,321 (GRCm39)	A458V	probably damaging	Het
Sptbn5	A	G	2: 119,907,144 (GRCm39)		probably benign	Het
Stox1	C	A	10: 62,500,627 (GRCm39)	L644F	probably damaging	Het
Sv2b	C	T	7: 74,806,501 (GRCm39)	G213E	probably damaging	Het
Tas2r121	T	G	6: 132,677,254 (GRCm39)	L239F	probably damaging	Het
Trrap	T	A	5: 144,731,603 (GRCm39)	V854E	probably damaging	Het
Vmn2r97	A	G	17: 19,168,035 (GRCm39)	Y763C	possibly damaging	Het
Xkr6	T	A	14: 63,844,360 (GRCm39)	W128R	probably damaging	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
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
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'- ATACTCCAGCTGGACCAGAC -3'
(R):5'- TTGGGTCTTCGCTATCACAC -3'

Sequencing Primer
(F):5'- AGACGCACGCTCTTGGTG -3'
(R):5'- CCCGGGAAGGTCAACCAG -3'

Posted On

2017-02-15