Mutagenetix > Incidental Mutation

Incidental Mutation 'R8698:Neurl2'

668821

Institutional Source

Beutler Lab

Gene Symbol

Neurl2

Ensembl Gene

ENSMUSG00000039873

Gene Name

neuralized E3 ubiquitin protein ligase 2

Synonyms

Ozz-E3, Ozz

MMRRC Submission

068552-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

164672652-164675376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 164675054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 103 (D103N)

Ref Sequence

ENSEMBL: ENSMUSP00000041806 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000042775
AA Change: D103N

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000041806
Gene: ENSMUSG00000039873
AA Change: D103N

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

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

probably benign
Transcript: ENSMUST00000151493

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,247,250 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,306,714 (GRCm39)	N1384S	probably benign	Het
Adgre1	T	C	17: 57,709,003 (GRCm39)	S65P	probably benign	Het
Adgrl4	G	T	3: 151,203,512 (GRCm39)	C124F	probably damaging	Het
Aldh1b1	G	A	4: 45,802,942 (GRCm39)	G160D	probably damaging	Het
Alpi	T	G	1: 87,028,208 (GRCm39)	D205A	probably damaging	Het
AW146154	C	A	7: 41,129,934 (GRCm39)	R394L	probably benign	Het
Bcl10	G	A	3: 145,639,022 (GRCm39)	M221I	probably benign	Het
Brpf3	G	A	17: 29,037,436 (GRCm39)	R768H	probably damaging	Het
Cad	G	T	5: 31,234,819 (GRCm39)	R2116L	probably benign	Het
Cand2	G	T	6: 115,763,852 (GRCm39)	R258L	probably damaging	Het
Car4	A	T	11: 84,855,009 (GRCm39)	N119I	probably benign	Het
Carmil1	C	T	13: 24,220,229 (GRCm39)	G1165D	probably damaging	Het
Ccdc66	T	C	14: 27,212,647 (GRCm39)	T403A	probably benign	Het
Cdon	T	G	9: 35,398,269 (GRCm39)		probably null	Het
Cemip	T	C	7: 83,607,790 (GRCm39)	I739V	probably damaging	Het
Cep85l	A	G	10: 53,234,201 (GRCm39)	I59T	probably damaging	Het
Clec4f	A	T	6: 83,630,267 (GRCm39)	V97D	probably benign	Het
Cnot6l	A	G	5: 96,225,149 (GRCm39)	C515R	probably damaging	Het
Cntnap2	G	A	6: 47,026,156 (GRCm39)	G935D	probably damaging	Het
Cntrl	A	G	2: 35,023,974 (GRCm39)	H553R	probably damaging	Het
Cops3	A	G	11: 59,708,886 (GRCm39)	S423P	probably damaging	Het
Cox15	C	T	19: 43,739,948 (GRCm39)	R39H	probably benign	Het
Ctnna2	A	G	6: 77,630,100 (GRCm39)	V131A	probably benign	Het
Dcst2	T	A	3: 89,276,044 (GRCm39)	F392I	probably benign	Het
Decr1	A	G	4: 15,922,483 (GRCm39)		probably null	Het
Dennd3	A	C	15: 73,394,154 (GRCm39)	T60P	possibly damaging	Het
Dipk1a	A	T	5: 108,057,776 (GRCm39)	F261I	probably damaging	Het
Dmxl2	T	C	9: 54,281,953 (GRCm39)	N2859S	probably benign	Het
Dnah12	A	T	14: 26,428,418 (GRCm39)	I280F	probably benign	Het
Dnah8	A	C	17: 31,094,009 (GRCm39)	D4701A	probably damaging	Het
Dyrk1a	C	A	16: 94,487,414 (GRCm39)	H541Q	possibly damaging	Het
Eml4	T	C	17: 83,785,345 (GRCm39)	S906P	probably benign	Het
Fam169a	G	T	13: 97,243,578 (GRCm39)	V203F	probably damaging	Het
Fmn1	C	T	2: 113,260,152 (GRCm39)	L682F	unknown	Het
Gli2	T	C	1: 118,769,887 (GRCm39)	Y555C	probably damaging	Het
Gm3278	A	G	14: 16,081,505 (GRCm39)	Y130C	possibly damaging	Het
Gm8237	T	A	14: 5,863,554 (GRCm38)	Y37F	probably damaging	Het
Golga4	T	G	9: 118,385,029 (GRCm39)	L717R	probably damaging	Het
Gtpbp4	C	T	13: 9,024,249 (GRCm39)	R568H	probably benign	Het
Il1f10	A	G	2: 24,183,197 (GRCm39)	N47S	probably damaging	Het
Itga6	A	G	2: 71,673,618 (GRCm39)	H884R	probably benign	Het
Kdm1a	T	C	4: 136,286,518 (GRCm39)	K482R	probably benign	Het
Klk12	T	C	7: 43,419,113 (GRCm39)	V26A	probably benign	Het
Lrp2	T	A	2: 69,278,583 (GRCm39)	R3923S	probably benign	Het
Lrp2	C	T	2: 69,288,767 (GRCm39)	V3700M	probably benign	Het
Lrrk2	A	G	15: 91,636,400 (GRCm39)	D1458G	probably benign	Het
Mapre2	T	A	18: 24,011,090 (GRCm39)	S233T	probably benign	Het
Mki67	T	C	7: 135,296,937 (GRCm39)	D2699G	possibly damaging	Het
Mthfr	T	A	4: 148,128,947 (GRCm39)	Y214*	probably null	Het
Ncoa6	A	T	2: 155,257,041 (GRCm39)	M834K	possibly damaging	Het
Niban3	T	A	8: 72,060,159 (GRCm39)	I93N	unknown	Het
Or1j15	T	C	2: 36,458,915 (GRCm39)	Y102H	possibly damaging	Het
Or2ag16	A	T	7: 106,352,571 (GRCm39)	V8E	probably benign	Het
Or2b7	G	A	13: 21,739,890 (GRCm39)	L101F	probably damaging	Het
P2ry14	A	G	3: 59,022,596 (GRCm39)	V288A	possibly damaging	Het
Pde6b	G	T	5: 108,576,105 (GRCm39)	S730I	possibly damaging	Het
Pdpk1	A	T	17: 24,298,542 (GRCm39)	V496D	probably damaging	Het
Plekho2	A	T	9: 65,463,554 (GRCm39)	L432M	probably damaging	Het
Ppa2	T	C	3: 133,082,362 (GRCm39)	L151P	unknown	Het
Ppp2r3c	G	A	12: 55,328,499 (GRCm39)	T422I	probably benign	Het
Prelid3a	T	C	18: 67,610,122 (GRCm39)	S151P	probably damaging	Het
Rad21l	G	A	2: 151,487,373 (GRCm39)	P537L	probably damaging	Het
Sacs	T	A	14: 61,450,802 (GRCm39)	S4283T	probably benign	Het
Samd9l	A	T	6: 3,373,843 (GRCm39)	D1139E	probably benign	Het
Scn9a	G	T	2: 66,366,628 (GRCm39)	H718Q	probably benign	Het
Slc1a3	A	T	15: 8,668,636 (GRCm39)	I443N	probably damaging	Het
Slc22a6	A	G	19: 8,600,889 (GRCm39)	M361V	probably benign	Het
Slc8a2	A	G	7: 15,891,132 (GRCm39)	Y724C	probably damaging	Het
Slf1	A	T	13: 77,197,284 (GRCm39)	S777T	possibly damaging	Het
Sltm	T	C	9: 70,494,352 (GRCm39)	S901P	probably benign	Het
Smc1b	A	T	15: 84,997,047 (GRCm39)	H524Q	probably benign	Het
Spast	T	C	17: 74,666,341 (GRCm39)	S225P	probably benign	Het
Srsf12	C	T	4: 33,231,246 (GRCm39)	R252W	probably damaging	Het
Syne1	A	G	10: 5,179,229 (GRCm39)	L4415P	probably damaging	Het
Tmem117	A	T	15: 94,535,990 (GRCm39)	Y8F	probably benign	Het
Tmem241	T	C	18: 12,197,288 (GRCm39)	D180G	possibly damaging	Het
Tomm40	C	T	7: 19,444,890 (GRCm39)	V164I	probably benign	Het
Ttc41	T	C	10: 86,548,841 (GRCm39)	Y12H	probably benign	Het
Twnk	T	C	19: 44,996,299 (GRCm39)	V244A	probably benign	Het
Ugt1a8	T	C	1: 88,015,952 (GRCm39)	S122P	probably damaging	Het
Vmn1r78	A	G	7: 11,886,539 (GRCm39)	K50R	probably benign	Het
Vmn2r10	A	G	5: 109,151,390 (GRCm39)	F75L	probably benign	Het
Wbp4	G	T	14: 79,707,573 (GRCm39)	Y179*	probably null	Het
Zfp106	A	G	2: 120,354,600 (GRCm39)		probably null	Het
Zfp974	A	T	7: 27,610,361 (GRCm39)	C455S	possibly 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
R5885:Neurl2	UTSW	2	164,674,811 (GRCm39)	missense	probably damaging	1.00
R8701:Neurl2	UTSW	2	164,675,054 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GCTGATCTAAGAGGTGGCTATAAAG -3'
(R):5'- ATGGAGCCAACATCCGCATG -3'

Sequencing Primer
(F):5'- GCTATAAAGCCCTGGCCG -3'
(R):5'- ATGGACCCCTCAGGAACG -3'

Posted On

2021-04-30