Incidental Mutation 'R4766:Nol3'
ID 366150
Institutional Source Beutler Lab
Gene Symbol Nol3
Ensembl Gene ENSMUSG00000014776
Gene Name nucleolar protein 3 (apoptosis repressor with CARD domain)
Synonyms Nop30, ARC, B430311C09Rik
MMRRC Submission 042407-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R4766 (G1)
Quality Score 162
Status Validated
Chromosome 8
Chromosomal Location 106002777-106008571 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 106008565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000014920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014920] [ENSMUST00000014981] [ENSMUST00000171788] [ENSMUST00000212219] [ENSMUST00000212922]
AlphaFold Q9D1X0
Predicted Effect probably null
Transcript: ENSMUST00000014920
SMART Domains Protein: ENSMUSP00000014920
Gene: ENSMUSG00000014776

DomainStartEndE-ValueType
CARD 4 92 2.1e-27 SMART
low complexity region 149 161 N/A INTRINSIC
low complexity region 173 209 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000014981
SMART Domains Protein: ENSMUSP00000014981
Gene: ENSMUSG00000014837

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171788
SMART Domains Protein: ENSMUSP00000128530
Gene: ENSMUSG00000014837

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000212219
Predicted Effect probably benign
Transcript: ENSMUST00000212922
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 97% (87/90)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous null mice exhibit accelerated cardiomyopathy in response to pressure overload and increased myocardial infarct size after I/R injury. Mice homozygous for another knock-out allele exhibit attenuated pulmonary hypertension and vasculature remodeling response to chronic hypoxia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik C T 5: 113,245,502 (GRCm39) V1584I probably benign Het
Adamts12 A G 15: 11,285,987 (GRCm39) D732G probably benign Het
Agpat4 A G 17: 12,370,637 (GRCm39) probably benign Het
AI182371 T C 2: 34,985,829 (GRCm39) D140G possibly damaging Het
Apol11b T A 15: 77,519,133 (GRCm39) T316S probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bard1 T C 1: 71,114,333 (GRCm39) E216G probably benign Het
Bdp1 C A 13: 100,186,376 (GRCm39) R1692L probably damaging Het
Capn10 T C 1: 92,871,141 (GRCm39) I101T probably damaging Het
Ccdc175 C T 12: 72,158,979 (GRCm39) M653I probably benign Het
Ccdc9b C A 2: 118,590,058 (GRCm39) R262L probably damaging Het
Ccr8 G A 9: 119,923,530 (GRCm39) C215Y probably damaging Het
Cct3 T A 3: 88,219,092 (GRCm39) L241* probably null Het
Cd2ap A T 17: 43,163,350 (GRCm39) I25N probably damaging Het
Cdh19 T C 1: 110,820,990 (GRCm39) K583E probably benign Het
Cela3a A G 4: 137,129,986 (GRCm39) S212P unknown Het
Cfap44 T A 16: 44,236,246 (GRCm39) probably null Het
Clca3a1 A T 3: 144,455,473 (GRCm39) L440Q probably damaging Het
Crybg2 A G 4: 133,816,663 (GRCm39) Y1676C probably damaging Het
Dscam T C 16: 96,445,188 (GRCm39) D1501G probably benign Het
Eml6 C A 11: 29,755,757 (GRCm39) L832F probably benign Het
Enpp3 A G 10: 24,649,825 (GRCm39) L867P probably damaging Het
Erbb3 A G 10: 128,422,107 (GRCm39) Y46H possibly damaging Het
Fads3 T C 19: 10,033,384 (GRCm39) I342T possibly damaging Het
Flvcr1 A T 1: 190,753,303 (GRCm39) S290T probably benign Het
Fut9 A G 4: 25,799,191 (GRCm39) probably benign Het
Gad2 C T 2: 22,512,679 (GRCm39) A2V probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm10715 T G 9: 3,038,073 (GRCm39) probably benign Het
Herc1 T G 9: 66,349,211 (GRCm39) D2023E probably benign Het
Hsd3b3 A G 3: 98,649,801 (GRCm39) L174P probably damaging Het
Impg2 TACCACCACCACCACCACCACCACCA TACCACCACCACCACCACCACCA 16: 56,078,302 (GRCm39) probably benign Het
Iqcf3 A G 9: 106,438,148 (GRCm39) probably null Het
Kcna4 G A 2: 107,126,888 (GRCm39) V541M probably damaging Het
Kcnj11 T C 7: 45,749,240 (GRCm39) T28A probably benign Het
Kcnmb2 T A 3: 32,236,016 (GRCm39) N88K probably damaging Het
Kdm2a TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTCCTC 19: 4,374,535 (GRCm39) probably benign Het
Krt1c T C 15: 101,722,395 (GRCm39) E430G probably damaging Het
Lins1 C T 7: 66,360,389 (GRCm39) L384F possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mfge8 T C 7: 78,784,273 (GRCm39) N389D probably damaging Het
Mug1 C T 6: 121,861,213 (GRCm39) T1278I probably benign Het
Myh9 T C 15: 77,692,077 (GRCm39) M161V probably damaging Het
Myl7 T A 11: 5,848,171 (GRCm39) Y61F probably benign Het
Nlrp4d A T 7: 10,096,706 (GRCm39) unknown Het
Nup85 T A 11: 115,468,751 (GRCm39) probably null Het
Obscn T A 11: 58,903,568 (GRCm39) T7619S probably damaging Het
Or2t49 T A 11: 58,392,494 (GRCm39) N296I probably damaging Het
Or4k48 T C 2: 111,476,226 (GRCm39) M39V probably benign Het
Or52a24 C T 7: 103,381,457 (GRCm39) T108I possibly damaging Het
Or7g26 G A 9: 19,230,141 (GRCm39) V104I probably benign Het
Pax5 T A 4: 44,679,494 (GRCm39) I184F probably damaging Het
Pcdha7 T A 18: 37,107,560 (GRCm39) V195D probably damaging Het
Phf3 A T 1: 30,853,020 (GRCm39) probably benign Het
Pla2g15 G T 8: 106,889,703 (GRCm39) G325V probably damaging Het
Ppp1r21 T C 17: 88,880,043 (GRCm39) F487L probably benign Het
Ppp1r9a A G 6: 5,157,016 (GRCm39) I965V probably benign Het
Ptpru A G 4: 131,548,275 (GRCm39) V74A probably damaging Het
Rif1 T A 2: 51,988,946 (GRCm39) Y780N probably damaging Het
Rps25 T A 9: 44,320,046 (GRCm39) Y23N possibly damaging Het
Ryr1 T C 7: 28,785,258 (GRCm39) D1811G probably damaging Het
Scamp5 T G 9: 57,359,319 (GRCm39) probably null Het
Senp1 T C 15: 97,943,777 (GRCm39) D602G probably damaging Het
Sh2b2 T G 5: 136,260,811 (GRCm39) D135A probably damaging Het
Slc26a8 G A 17: 28,857,635 (GRCm39) T836M probably benign Het
Slfn4 T G 11: 83,077,647 (GRCm39) I145S possibly damaging Het
Spag6l G A 16: 16,595,254 (GRCm39) T377I probably benign Het
Spdye4b T C 5: 143,182,089 (GRCm39) F129S probably damaging Het
Sspo G A 6: 48,447,514 (GRCm39) G2360E probably benign Het
Taar2 A T 10: 23,816,669 (GRCm39) I70F probably damaging Het
Taar7e A G 10: 23,914,464 (GRCm39) N318S probably damaging Het
Tor1a C A 2: 30,857,742 (GRCm39) R42L probably benign Het
Trdn A T 10: 33,350,502 (GRCm39) Q690H probably benign Het
Trim56 C A 5: 137,141,579 (GRCm39) V646L probably benign Het
Tspan15 T A 10: 62,027,323 (GRCm39) K165I probably benign Het
Usp24 A G 4: 106,273,245 (GRCm39) Y2210C probably damaging Het
Usp45 A G 4: 21,797,307 (GRCm39) T76A probably damaging Het
Vps13c T A 9: 67,785,506 (GRCm39) probably null Het
Zfp512b T C 2: 181,226,888 (GRCm39) probably benign Het
Zyx C A 6: 42,333,093 (GRCm39) probably null Het
Other mutations in Nol3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02115:Nol3 APN 8 106,006,263 (GRCm39) missense probably benign 0.01
R0741:Nol3 UTSW 8 106,005,756 (GRCm39) missense probably damaging 1.00
R1530:Nol3 UTSW 8 106,005,858 (GRCm39) missense probably benign 0.03
R4883:Nol3 UTSW 8 106,005,888 (GRCm39) missense possibly damaging 0.77
R6838:Nol3 UTSW 8 106,006,207 (GRCm39) missense probably damaging 0.96
R9657:Nol3 UTSW 8 106,005,641 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCATCTCATGCAGGAACAAG -3'
(R):5'- TGCTAGACAATACCAGAGTGCC -3'

Sequencing Primer
(F):5'- GCAGGAACAAGTTTCTATTCCC -3'
(R):5'- CCCACTTCATGAAGGACTTGG -3'
Posted On 2015-12-21