Mutagenetix > Incidental Mutation

Incidental Mutation 'R4959:Neurl2'

382127

Institutional Source

Beutler Lab

Gene Symbol

Neurl2

Ensembl Gene

ENSMUSG00000039873

Gene Name

neuralized E3 ubiquitin protein ligase 2

Synonyms

Ozz-E3, Ozz

MMRRC Submission

042556-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164672652-164675376 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 164675122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116210 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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 null
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

probably damaging
Transcript: ENSMUST00000042775
AA Change: H80L

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

SMART Domains

Protein: ENSMUSP00000041806
Gene: ENSMUSG00000039873
AA Change: H80L

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 null
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 null
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 null
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 null
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

probably null
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 null
Transcript: ENSMUST00000151493

Predicted Effect

probably null
Transcript: ENSMUST00000151493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141411

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140213

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

Meta Mutation Damage Score

0.7926

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.6%
20x: 89.7%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
6820408C15Rik	T	A	2: 152,282,808 (GRCm39)	I221K	possibly damaging	Het
Aadacl3	A	T	4: 144,183,656 (GRCm39)	C136S	probably benign	Het
Abhd16a	T	A	17: 35,321,318 (GRCm39)	S498T	probably benign	Het
Acrv1	G	A	9: 36,605,996 (GRCm39)		probably null	Het
Adamts18	G	A	8: 114,463,357 (GRCm39)	R830*	probably null	Het
Art3	A	G	5: 92,551,478 (GRCm39)	Y279C	probably damaging	Het
Atm	A	T	9: 53,426,601 (GRCm39)	D552E	probably benign	Het
Ccdc154	T	C	17: 25,389,888 (GRCm39)	L508P	probably damaging	Het
Ccser2	A	T	14: 36,662,753 (GRCm39)	S144T	probably benign	Het
Cgn	C	T	3: 94,685,564 (GRCm39)	A320T	probably benign	Het
Cklf	A	G	8: 104,988,184 (GRCm39)	K106E	probably benign	Het
Clec12a	C	A	6: 129,330,628 (GRCm39)	T70K	probably benign	Het
CN725425	G	A	15: 91,129,904 (GRCm39)	A256T	possibly damaging	Het
Crb2	G	T	2: 37,680,482 (GRCm39)	R470L	probably damaging	Het
Csn1s1	T	G	5: 87,821,120 (GRCm39)	S33A	probably benign	Het
D630045J12Rik	C	T	6: 38,125,302 (GRCm39)	V1571M	possibly damaging	Het
Deup1	G	A	9: 15,523,310 (GRCm39)	Q58*	probably null	Het
Dph2	T	A	4: 117,748,527 (GRCm39)	D82V	probably damaging	Het
Dsp	C	T	13: 38,375,686 (GRCm39)	A1157V	probably benign	Het
Evi5l	G	T	8: 4,255,406 (GRCm39)	V477L	probably benign	Het
Fam187b	T	A	7: 30,681,687 (GRCm39)	H131Q	probably damaging	Het
Fam193b	A	G	13: 55,691,097 (GRCm39)	I259T	probably damaging	Het
Fam91a1	A	G	15: 58,303,059 (GRCm39)	T323A	probably benign	Het
Fat4	T	G	3: 39,037,195 (GRCm39)	S3616A	probably benign	Het
Fbxo38	A	T	18: 62,655,578 (GRCm39)	N369K	probably benign	Het
Fitm1	T	A	14: 55,813,831 (GRCm39)		probably null	Het
Fkbp5	T	C	17: 28,647,343 (GRCm39)	E164G	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,211 (GRCm39)	Y310C	possibly damaging	Het
Fryl	A	T	5: 73,192,401 (GRCm39)	M2678K	probably benign	Het
Fsip2	T	C	2: 82,815,169 (GRCm39)	I3634T	probably benign	Het
Gm3233	T	C	10: 77,595,399 (GRCm39)		probably benign	Het
Gzmd	T	G	14: 56,369,955 (GRCm39)	T9P	unknown	Het
Htr2b	A	T	1: 86,027,813 (GRCm39)	I231N	probably damaging	Het
Il2ra	A	G	2: 11,681,664 (GRCm39)	T90A	possibly damaging	Het
Kbtbd2	A	G	6: 56,758,943 (GRCm39)	F60S	probably benign	Het
Kif21b	G	A	1: 136,076,108 (GRCm39)	C299Y	possibly damaging	Het
Lsm5	A	T	6: 56,680,309 (GRCm39)	D44E	probably damaging	Het
Mapk1	T	A	16: 16,836,170 (GRCm39)	M106K	probably damaging	Het
Mpp2	A	G	11: 101,954,117 (GRCm39)	V193A	probably damaging	Het
Muc4	T	C	16: 32,575,437 (GRCm39)	S1398P	possibly damaging	Het
Ndufs2	A	G	1: 171,065,578 (GRCm39)	Y282H	probably damaging	Het
Nes	T	A	3: 87,882,983 (GRCm39)	L414Q	probably damaging	Het
Ngef	A	G	1: 87,431,070 (GRCm39)	F159S	possibly damaging	Het
Nlrx1	T	C	9: 44,165,448 (GRCm39)	H816R	possibly damaging	Het
Or10v5	A	G	19: 11,806,300 (GRCm39)	L30P	probably benign	Het
Or1e22	A	T	11: 73,376,893 (GRCm39)	Y252*	probably null	Het
Or2f1	T	C	6: 42,721,621 (GRCm39)	S217P	probably damaging	Het
Or4c106	T	C	2: 88,682,516 (GRCm39)	V74A	possibly damaging	Het
Or4f17-ps1	T	A	2: 111,357,969 (GRCm39)	F103L	probably damaging	Het
Or4p7	T	A	2: 88,221,674 (GRCm39)	L28I	probably benign	Het
Or7g35	A	G	9: 19,496,504 (GRCm39)	T224A	probably benign	Het
Pcgf2	A	T	11: 97,582,515 (GRCm39)	Y7N	possibly damaging	Het
Pdlim5	G	A	3: 142,017,740 (GRCm39)		probably benign	Het
Pdzd2	A	G	15: 12,375,734 (GRCm39)	V1467A	probably damaging	Het
Pigp	C	A	16: 94,160,006 (GRCm39)	G134V	probably benign	Het
Pik3c2g	T	C	6: 139,789,657 (GRCm39)	Y385H	possibly damaging	Het
Pnliprp2	G	A	19: 58,754,750 (GRCm39)	E265K	probably benign	Het
Prl3c1	G	T	13: 27,386,471 (GRCm39)		probably null	Het
Ptpn4	A	T	1: 119,692,826 (GRCm39)	Y110*	probably null	Het
Ptprq	C	T	10: 107,522,416 (GRCm39)	V546I	probably damaging	Het
Rd3l	C	T	12: 111,946,578 (GRCm39)		probably null	Het
Rpl37	G	A	15: 5,147,128 (GRCm39)	R56Q	possibly damaging	Het
Rttn	A	T	18: 89,060,292 (GRCm39)	H998L	probably damaging	Het
Rufy1	A	T	11: 50,292,315 (GRCm39)	F491L	probably benign	Het
Simc1	T	G	13: 54,673,131 (GRCm39)	V493G	possibly damaging	Het
Slc22a14	CTTTCCTGAA	C	9: 119,003,101 (GRCm39)		probably benign	Het
Slc25a46	A	T	18: 31,735,807 (GRCm39)	I144N	possibly damaging	Het
Smtn	A	T	11: 3,477,825 (GRCm39)	M1K	probably null	Het
Snd1	C	A	6: 28,884,250 (GRCm39)	Y766*	probably null	Het
Spata31d1d	C	T	13: 59,875,102 (GRCm39)	G811D	probably damaging	Het
Spta1	A	C	1: 174,074,174 (GRCm39)	D2371A	probably damaging	Het
Stard6	A	C	18: 70,631,631 (GRCm39)	D74A	possibly damaging	Het
Stim2	G	T	5: 54,262,712 (GRCm39)	R318L	probably benign	Het
Sufu	C	T	19: 46,463,991 (GRCm39)	T401I	possibly damaging	Het
Suz12	G	A	11: 79,920,057 (GRCm39)	G539D	probably damaging	Het
Sytl2	C	G	7: 90,025,245 (GRCm39)	S411C	probably damaging	Het
Taf6	G	A	5: 138,181,465 (GRCm39)	Q156*	probably null	Het
Tead4	T	C	6: 128,247,950 (GRCm39)	D29G	probably damaging	Het
Thada	T	C	17: 84,751,611 (GRCm39)	Y455C	probably damaging	Het
Tlr6	G	C	5: 65,111,002 (GRCm39)	T635S	possibly damaging	Het
Tlr9	A	G	9: 106,101,876 (GRCm39)	D389G	probably benign	Het
Tmem54	A	T	4: 129,002,073 (GRCm39)	H40L	probably damaging	Het
Trappc9	G	T	15: 72,808,905 (GRCm39)	N540K	probably damaging	Het
Trbv28	C	T	6: 41,248,788 (GRCm39)	S106F	probably damaging	Het
Trrap	A	T	5: 144,793,770 (GRCm39)	H3384L	probably damaging	Het
Usp16	T	A	16: 87,277,802 (GRCm39)	M684K	probably damaging	Het
Vat1	G	A	11: 101,351,426 (GRCm39)	T305M	probably damaging	Het
Vmn2r85	A	G	10: 130,257,302 (GRCm39)	S544P	probably damaging	Het
Vps8	T	C	16: 21,278,536 (GRCm39)	S267P	probably damaging	Het
Ylpm1	T	A	12: 85,096,719 (GRCm39)	V1242E	probably damaging	Het
Zfp267	C	T	3: 36,218,285 (GRCm39)	R102C	possibly damaging	Het
Zfp322a	T	C	13: 23,541,052 (GRCm39)	Y230C	probably damaging	Het
Zfp352	T	A	4: 90,112,376 (GRCm39)	V172E	probably benign	Het
Zfp936	A	T	7: 42,839,034 (GRCm39)	H167L	probably damaging	Het
Zkscan14	A	G	5: 145,132,302 (GRCm39)	Y410H	probably benign	Het
Zkscan17	A	G	11: 59,394,538 (GRCm39)	M21T	probably damaging	Het
Zswim4	G	T	8: 84,938,852 (GRCm39)	A1010D	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
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
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'- GTTCAACCAGTAGGGCTTGG -3'
(R):5'- GCTGCCCAAAATAGCCCTTG -3'

Sequencing Primer
(F):5'- GTGATAGCGAAGACCCAA -3'
(R):5'- ATGAGCTGCCCTGTTGCAC -3'

Posted On

2016-04-27