Incidental Mutation 'R4973:Neurl2'
ID 382349
Institutional Source Beutler Lab
Gene Symbol Neurl2
Ensembl Gene ENSMUSG00000039873
Gene Name neuralized E3 ubiquitin protein ligase 2
Synonyms Ozz-E3, Ozz
MMRRC Submission 042568-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4973 (G1)
Quality Score 225
Status Validated
Chromosome 2
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Peptidase_S10 34 215 9.4e-81 PFAM
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: 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: ENSMUST00000128596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140213
Predicted Effect probably benign
Transcript: ENSMUST00000143780
SMART Domains Protein: ENSMUSP00000123413
Gene: ENSMUSG00000017760

DomainStartEndE-ValueType
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: ENSMUST00000155061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152721
SMART Domains Protein: ENSMUSP00000119814
Gene: ENSMUSG00000017760

DomainStartEndE-ValueType
Pfam:Peptidase_S10 45 227 1.7e-77 PFAM
Meta Mutation Damage Score 0.7926 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 97% (115/118)
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T A 2: 152,282,808 (GRCm39) I221K possibly damaging Het
Abhd16a T A 17: 35,321,318 (GRCm39) S498T probably benign Het
Adamts18 G A 8: 114,463,357 (GRCm39) R830* probably null Het
Ankrd27 A G 7: 35,332,417 (GRCm39) D848G probably benign Het
Art3 A G 5: 92,551,478 (GRCm39) Y279C probably damaging Het
Atp2c2 A G 8: 120,481,002 (GRCm39) T797A probably benign Het
Ccdc121rt1 A T 1: 181,338,829 (GRCm39) V41E possibly damaging Het
Ccdc122 A T 14: 77,305,381 (GRCm39) I12F possibly damaging Het
Ccdc154 T C 17: 25,389,888 (GRCm39) L508P probably damaging Het
Cdk5r2 A G 1: 74,894,831 (GRCm39) D192G probably damaging 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
Clock A G 5: 76,402,258 (GRCm39) V134A possibly damaging Het
CN725425 G A 15: 91,129,904 (GRCm39) A256T possibly damaging Het
Csf1r A T 18: 61,262,119 (GRCm39) I792F probably damaging Het
Csn1s1 T G 5: 87,821,120 (GRCm39) S33A probably benign Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
D5Ertd579e A G 5: 36,830,249 (GRCm39) V25A probably benign Het
D630045J12Rik C T 6: 38,125,302 (GRCm39) V1571M possibly damaging Het
Ddx5 C A 11: 106,675,833 (GRCm39) V286L possibly damaging Het
Deup1 G A 9: 15,523,310 (GRCm39) Q58* probably null Het
Dnhd1 T G 7: 105,362,840 (GRCm39) L3801V probably benign Het
Dph2 T A 4: 117,748,527 (GRCm39) D82V probably damaging Het
Ercc6 A G 14: 32,296,859 (GRCm39) D1283G probably damaging Het
Evi5l G T 8: 4,255,406 (GRCm39) V477L probably benign Het
Fam91a1 A G 15: 58,303,059 (GRCm39) T323A probably benign Het
Fanca G A 8: 124,035,261 (GRCm39) T228M probably damaging Het
Fat4 T G 3: 39,037,195 (GRCm39) S3616A probably benign Het
Fbxo16 G T 14: 65,558,746 (GRCm39) A302S probably benign 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
Fsip2 T C 2: 82,815,169 (GRCm39) I3634T probably benign Het
Gm6327 T C 16: 12,578,845 (GRCm39) noncoding transcript Het
Gnl3 A T 14: 30,735,462 (GRCm39) N411K possibly damaging Het
Golga1 A T 2: 38,929,118 (GRCm39) D308E probably damaging Het
Gpbar1 TACCAC TAC 1: 74,318,704 (GRCm39) probably benign Het
Gsap A T 5: 21,459,037 (GRCm39) T501S probably benign Het
Helq A G 5: 100,940,737 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,234,108 (GRCm39) H291R probably benign Het
Htt A T 5: 34,970,367 (GRCm39) D505V probably damaging Het
Ildr1 C T 16: 36,528,660 (GRCm39) T35I probably benign Het
Iqgap2 A G 13: 95,794,305 (GRCm39) probably null Het
Kansl1 C T 11: 104,315,147 (GRCm39) R297H probably damaging Het
Kat2b-ps T C 5: 93,539,644 (GRCm39) noncoding transcript Het
Kbtbd2 A G 6: 56,758,943 (GRCm39) F60S probably benign Het
Kcnt2 A T 1: 140,537,388 (GRCm39) S1116C probably damaging Het
Krt9 C T 11: 100,079,538 (GRCm39) G618E unknown Het
Lsm5 A T 6: 56,680,309 (GRCm39) D44E probably damaging Het
Mdn1 A G 4: 32,734,418 (GRCm39) D3275G probably benign Het
Mindy2 A T 9: 70,512,453 (GRCm39) V599E possibly damaging Het
Nelfa A G 5: 34,059,162 (GRCm39) V231A probably benign Het
Nepro T C 16: 44,555,156 (GRCm39) Y411H probably benign Het
Nes T A 3: 87,882,983 (GRCm39) L414Q probably damaging Het
Nkx1-1 G T 5: 33,588,410 (GRCm39) Q293K possibly damaging Het
Nphp3 C T 9: 103,909,198 (GRCm39) H803Y probably benign Het
Obscn A G 11: 59,023,292 (GRCm39) V695A probably damaging Het
Or10v5 A G 19: 11,806,300 (GRCm39) L30P probably benign Het
Or12d15 G A 17: 37,693,910 (GRCm39) A151T probably damaging Het
Or2f1 T C 6: 42,721,621 (GRCm39) S217P probably damaging Het
Or2t48 T C 11: 58,419,903 (GRCm39) E303G probably benign 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
Or8d2b A G 9: 38,789,400 (GRCm39) *309W probably null Het
Orai3 T A 7: 127,373,348 (GRCm39) L283Q probably damaging Het
Pcdhb13 A T 18: 37,576,237 (GRCm39) D205V probably benign Het
Pdlim5 G A 3: 142,017,740 (GRCm39) probably benign Het
Pdzd2 A G 15: 12,375,734 (GRCm39) V1467A probably damaging Het
Pgm3 A G 9: 86,444,732 (GRCm39) S268P probably benign Het
Piezo2 A T 18: 63,207,751 (GRCm39) I1420N 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
Psmd13 T A 7: 140,466,766 (GRCm39) Y117* probably null Het
Ptprq C T 10: 107,522,416 (GRCm39) V546I probably damaging Het
Pum1 T G 4: 130,396,448 (GRCm39) S68A probably benign Het
Rnf167 T A 11: 70,540,701 (GRCm39) probably benign Het
Rnf213 T C 11: 119,318,983 (GRCm39) V1148A possibly damaging Het
Rnf216 T C 5: 143,076,071 (GRCm39) E271G probably benign Het
Ros1 A T 10: 52,031,087 (GRCm39) I506N probably damaging Het
Rpl37 G A 15: 5,147,128 (GRCm39) R56Q possibly damaging Het
Rpl41 A C 10: 128,384,576 (GRCm39) probably benign Het
Rttn A T 18: 89,060,292 (GRCm39) H998L probably damaging Het
Sacs G T 14: 61,450,571 (GRCm39) A4206S probably damaging Het
Slc22a14 CTTTCCTGAA C 9: 119,003,101 (GRCm39) probably benign Het
Slc36a3 T C 11: 55,037,630 (GRCm39) probably benign Het
Slc39a3 A T 10: 80,866,796 (GRCm39) W317R probably damaging Het
Snd1 C A 6: 28,884,250 (GRCm39) Y766* probably null Het
Snrpd1 T C 18: 10,626,835 (GRCm39) V34A probably benign Het
Spire2 T A 8: 124,083,583 (GRCm39) I189N probably damaging Het
Stard6 A C 18: 70,631,631 (GRCm39) D74A possibly damaging Het
Sufu C T 19: 46,463,991 (GRCm39) T401I possibly damaging Het
Taar7b T A 10: 23,876,243 (GRCm39) F136Y probably benign Het
Taf6 G A 5: 138,181,465 (GRCm39) Q156* probably null Het
Tcp11l2 A G 10: 84,427,027 (GRCm39) I164V probably damaging Het
Tead4 T C 6: 128,247,950 (GRCm39) D29G probably damaging Het
Tns4 G T 11: 98,966,039 (GRCm39) P448Q 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
Usp16 T A 16: 87,277,802 (GRCm39) M684K probably damaging Het
Usp45 A T 4: 21,815,372 (GRCm39) T362S probably damaging Het
Vcan A T 13: 89,836,961 (GRCm39) M2861K probably benign Het
Vps8 T C 16: 21,278,536 (GRCm39) S267P probably damaging Het
Wdfy3 C T 5: 102,090,985 (GRCm39) D532N probably benign Het
Zbtb34 T A 2: 33,301,626 (GRCm39) Q305L probably benign Het
Zfp267 C T 3: 36,218,285 (GRCm39) R102C possibly damaging Het
Zfp352 T A 4: 90,112,376 (GRCm39) V172E probably benign Het
Zfp454 T C 11: 50,764,950 (GRCm39) N161D probably benign Het
Zfp804b A T 5: 6,821,198 (GRCm39) S622T probably damaging Het
Zswim4 G T 8: 84,938,852 (GRCm39) A1010D probably benign Het
Other mutations in Neurl2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTGCCCAAAATAGCCCTTGG -3'

Sequencing Primer
(F):5'- GTGATAGCGAAGACCCAA -3'
(R):5'- ATGAGCTGCCCTGTTGCAC -3'
Posted On 2016-04-27