Incidental Mutation 'R3160:Nop2'
ID 258105
Institutional Source Beutler Lab
Gene Symbol Nop2
Ensembl Gene ENSMUSG00000038279
Gene Name NOP2 nucleolar protein
Synonyms Nol1, 120kDa
MMRRC Submission 040611-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R3160 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 125108872-125121716 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125111555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 96 (N96S)
Ref Sequence ENSEMBL: ENSMUSP00000145333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044200] [ENSMUST00000056889] [ENSMUST00000112390] [ENSMUST00000112392] [ENSMUST00000204185]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000044200
AA Change: N96S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
AA Change: N96S

DomainStartEndE-ValueType
low complexity region 41 57 N/A INTRINSIC
low complexity region 97 109 N/A INTRINSIC
low complexity region 166 176 N/A INTRINSIC
Pfam:Methyltr_RsmF_N 268 359 2.9e-12 PFAM
Pfam:Nol1_Nop2_Fmu 362 570 2e-86 PFAM
Pfam:P120R 609 630 2.7e-11 PFAM
Pfam:P120R 663 685 1.1e-12 PFAM
low complexity region 729 745 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000056889
SMART Domains Protein: ENSMUSP00000060054
Gene: ENSMUSG00000063870

DomainStartEndE-ValueType
low complexity region 29 45 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
low complexity region 80 92 N/A INTRINSIC
low complexity region 107 144 N/A INTRINSIC
Pfam:CHDNT 156 210 7.7e-35 PFAM
low complexity region 217 249 N/A INTRINSIC
low complexity region 271 291 N/A INTRINSIC
low complexity region 296 318 N/A INTRINSIC
low complexity region 321 347 N/A INTRINSIC
PHD 365 408 7.17e-15 SMART
RING 366 407 7.46e-1 SMART
low complexity region 424 443 N/A INTRINSIC
PHD 444 487 4.41e-15 SMART
RING 445 486 2.63e0 SMART
CHROMO 492 572 8.11e-17 SMART
CHROMO 613 670 1.98e-11 SMART
low complexity region 675 694 N/A INTRINSIC
DEXDc 715 927 2.73e-37 SMART
low complexity region 1044 1056 N/A INTRINSIC
HELICc 1073 1157 7.61e-27 SMART
DUF1087 1282 1346 5.56e-33 SMART
DUF1086 1359 1516 4.05e-108 SMART
low complexity region 1526 1540 N/A INTRINSIC
low complexity region 1560 1578 N/A INTRINSIC
low complexity region 1590 1633 N/A INTRINSIC
low complexity region 1635 1653 N/A INTRINSIC
low complexity region 1661 1674 N/A INTRINSIC
Pfam:CHDCT2 1727 1899 1.9e-98 PFAM
low complexity region 1903 1915 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112390
SMART Domains Protein: ENSMUSP00000108009
Gene: ENSMUSG00000063870

DomainStartEndE-ValueType
low complexity region 29 45 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
low complexity region 87 99 N/A INTRINSIC
low complexity region 114 151 N/A INTRINSIC
Pfam:CHDNT 164 217 2e-28 PFAM
low complexity region 224 256 N/A INTRINSIC
low complexity region 278 298 N/A INTRINSIC
low complexity region 303 325 N/A INTRINSIC
low complexity region 328 354 N/A INTRINSIC
PHD 372 415 7.17e-15 SMART
RING 373 414 7.46e-1 SMART
low complexity region 431 450 N/A INTRINSIC
PHD 451 494 4.41e-15 SMART
RING 452 493 2.63e0 SMART
CHROMO 499 579 8.11e-17 SMART
CHROMO 620 677 1.98e-11 SMART
low complexity region 682 701 N/A INTRINSIC
DEXDc 722 934 2.73e-37 SMART
low complexity region 1051 1063 N/A INTRINSIC
HELICc 1080 1164 7.61e-27 SMART
DUF1087 1289 1353 5.56e-33 SMART
DUF1086 1366 1523 4.05e-108 SMART
low complexity region 1533 1547 N/A INTRINSIC
low complexity region 1567 1585 N/A INTRINSIC
low complexity region 1597 1640 N/A INTRINSIC
low complexity region 1642 1660 N/A INTRINSIC
low complexity region 1668 1681 N/A INTRINSIC
Pfam:CHDCT2 1735 1906 4.3e-90 PFAM
low complexity region 1910 1922 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112392
SMART Domains Protein: ENSMUSP00000108011
Gene: ENSMUSG00000063870

DomainStartEndE-ValueType
low complexity region 29 45 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
low complexity region 80 92 N/A INTRINSIC
low complexity region 107 144 N/A INTRINSIC
Pfam:CHDNT 156 210 1.1e-34 PFAM
low complexity region 217 249 N/A INTRINSIC
low complexity region 271 291 N/A INTRINSIC
low complexity region 296 318 N/A INTRINSIC
low complexity region 321 347 N/A INTRINSIC
PHD 352 395 7.17e-15 SMART
RING 353 394 7.46e-1 SMART
low complexity region 411 430 N/A INTRINSIC
PHD 431 474 4.41e-15 SMART
RING 432 473 2.63e0 SMART
CHROMO 479 559 8.11e-17 SMART
CHROMO 600 657 1.98e-11 SMART
low complexity region 662 681 N/A INTRINSIC
DEXDc 702 914 2.73e-37 SMART
low complexity region 1031 1043 N/A INTRINSIC
HELICc 1060 1144 7.61e-27 SMART
DUF1087 1269 1333 5.56e-33 SMART
DUF1086 1346 1503 4.05e-108 SMART
low complexity region 1513 1527 N/A INTRINSIC
low complexity region 1547 1565 N/A INTRINSIC
low complexity region 1577 1620 N/A INTRINSIC
low complexity region 1622 1640 N/A INTRINSIC
low complexity region 1648 1661 N/A INTRINSIC
Pfam:CHDCT2 1714 1886 2.8e-98 PFAM
low complexity region 1890 1902 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204185
AA Change: N96S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000145333
Gene: ENSMUSG00000038279
AA Change: N96S

DomainStartEndE-ValueType
low complexity region 41 57 N/A INTRINSIC
low complexity region 97 109 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete prenatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Btnl2 T C 17: 34,577,039 (GRCm39) W65R probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Ccdc181 T A 1: 164,107,865 (GRCm39) S183T probably damaging Het
Cep350 T C 1: 155,738,910 (GRCm39) H2311R probably benign Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Crbn T C 6: 106,767,827 (GRCm39) Q221R probably benign Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Decr1 T A 4: 15,930,972 (GRCm39) D120V probably damaging Het
Dennd1c C T 17: 57,373,562 (GRCm39) G637D possibly damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dnajc13 G T 9: 104,097,097 (GRCm39) N510K possibly damaging Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Iqgap1 G A 7: 80,402,086 (GRCm39) A393V probably benign Het
Irak2 G T 6: 113,649,721 (GRCm39) A119S probably benign Het
Itgb2l A G 16: 96,238,589 (GRCm39) L70P probably damaging Het
Itsn1 C A 16: 91,649,932 (GRCm39) S202* probably null Het
Mill2 A C 7: 18,590,099 (GRCm39) E127A probably benign Het
Msh6 T C 17: 88,292,909 (GRCm39) Y555H probably damaging Het
Myo18b A C 5: 112,840,594 (GRCm39) S2400A probably damaging Het
Naa25 A G 5: 121,573,135 (GRCm39) probably null Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or13c7b T A 4: 43,820,544 (GRCm39) K272N probably benign Het
Or2z2 T C 11: 58,346,053 (GRCm39) T241A probably damaging Het
Or4c52 T G 2: 89,845,365 (GRCm39) Y30* probably null Het
Pde5a T A 3: 122,575,277 (GRCm39) L356* probably null Het
Prss59 A G 6: 40,903,003 (GRCm39) M123T probably benign Het
Ralgapa1 A T 12: 55,756,371 (GRCm39) N1075K probably damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Serinc2 A G 4: 130,154,528 (GRCm39) S175P probably benign Het
Socs5 A T 17: 87,442,146 (GRCm39) Q362L probably damaging Het
Srbd1 A T 17: 86,437,643 (GRCm39) D233E probably benign Het
Srgap3 A G 6: 112,706,619 (GRCm39) V826A probably benign Het
Tns2 A G 15: 102,021,771 (GRCm39) E1118G possibly damaging Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Tuba8 A G 6: 121,199,697 (GRCm39) D127G possibly damaging Het
Tulp4 A G 17: 6,248,983 (GRCm39) M1V probably null Het
Urb1 A G 16: 90,594,791 (GRCm39) L247P probably damaging Het
Usp32 A G 11: 84,916,362 (GRCm39) W861R probably damaging Het
Vmn1r48 G A 6: 90,013,360 (GRCm39) T155I probably benign Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A probably damaging Het
Other mutations in Nop2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Nop2 APN 6 125,110,509 (GRCm39) missense probably damaging 1.00
IGL00913:Nop2 APN 6 125,116,784 (GRCm39) missense probably damaging 1.00
IGL02568:Nop2 APN 6 125,117,813 (GRCm39) missense probably damaging 1.00
IGL02850:Nop2 APN 6 125,121,033 (GRCm39) missense probably benign 0.01
IGL02850:Nop2 APN 6 125,121,048 (GRCm39) missense possibly damaging 0.67
IGL02851:Nop2 APN 6 125,121,033 (GRCm39) missense probably benign 0.01
IGL02851:Nop2 APN 6 125,121,048 (GRCm39) missense possibly damaging 0.67
IGL03144:Nop2 APN 6 125,114,475 (GRCm39) critical splice donor site probably null
IGL03338:Nop2 APN 6 125,116,695 (GRCm39) splice site probably null
R0211:Nop2 UTSW 6 125,118,307 (GRCm39) missense probably damaging 1.00
R0211:Nop2 UTSW 6 125,118,307 (GRCm39) missense probably damaging 1.00
R0486:Nop2 UTSW 6 125,117,636 (GRCm39) missense probably null 0.14
R0627:Nop2 UTSW 6 125,116,667 (GRCm39) missense possibly damaging 0.90
R1022:Nop2 UTSW 6 125,114,149 (GRCm39) missense probably benign 0.02
R1024:Nop2 UTSW 6 125,114,149 (GRCm39) missense probably benign 0.02
R1068:Nop2 UTSW 6 125,109,242 (GRCm39) missense probably damaging 0.99
R1750:Nop2 UTSW 6 125,114,601 (GRCm39) missense probably benign 0.00
R1847:Nop2 UTSW 6 125,114,042 (GRCm39) unclassified probably benign
R1940:Nop2 UTSW 6 125,111,597 (GRCm39) missense probably benign 0.43
R1972:Nop2 UTSW 6 125,111,602 (GRCm39) missense probably benign 0.02
R2059:Nop2 UTSW 6 125,116,823 (GRCm39) missense probably null 0.95
R2100:Nop2 UTSW 6 125,117,785 (GRCm39) missense probably damaging 1.00
R3123:Nop2 UTSW 6 125,109,164 (GRCm39) utr 5 prime probably benign
R3124:Nop2 UTSW 6 125,109,164 (GRCm39) utr 5 prime probably benign
R3162:Nop2 UTSW 6 125,111,555 (GRCm39) missense probably benign 0.00
R4521:Nop2 UTSW 6 125,110,515 (GRCm39) missense probably damaging 1.00
R4522:Nop2 UTSW 6 125,110,515 (GRCm39) missense probably damaging 1.00
R4523:Nop2 UTSW 6 125,110,515 (GRCm39) missense probably damaging 1.00
R4524:Nop2 UTSW 6 125,110,515 (GRCm39) missense probably damaging 1.00
R4571:Nop2 UTSW 6 125,117,844 (GRCm39) critical splice donor site probably null
R4695:Nop2 UTSW 6 125,121,519 (GRCm39) missense probably benign 0.00
R4747:Nop2 UTSW 6 125,114,057 (GRCm39) missense probably benign
R5010:Nop2 UTSW 6 125,110,726 (GRCm39) missense probably benign 0.00
R5385:Nop2 UTSW 6 125,121,324 (GRCm39) missense probably benign
R5455:Nop2 UTSW 6 125,117,606 (GRCm39) missense probably benign 0.19
R5567:Nop2 UTSW 6 125,110,726 (GRCm39) missense probably benign 0.00
R5914:Nop2 UTSW 6 125,111,691 (GRCm39) missense probably benign 0.01
R5993:Nop2 UTSW 6 125,120,982 (GRCm39) missense probably benign 0.00
R6031:Nop2 UTSW 6 125,110,529 (GRCm39) critical splice donor site probably null
R6031:Nop2 UTSW 6 125,110,529 (GRCm39) critical splice donor site probably null
R6065:Nop2 UTSW 6 125,121,528 (GRCm39) missense probably benign
R6352:Nop2 UTSW 6 125,114,170 (GRCm39) missense probably benign
R6436:Nop2 UTSW 6 125,114,274 (GRCm39) missense probably benign 0.01
R7393:Nop2 UTSW 6 125,110,509 (GRCm39) nonsense probably null
R7499:Nop2 UTSW 6 125,121,171 (GRCm39) missense possibly damaging 0.75
R8029:Nop2 UTSW 6 125,121,383 (GRCm39) missense possibly damaging 0.77
R8059:Nop2 UTSW 6 125,117,775 (GRCm39) missense probably damaging 0.98
R8445:Nop2 UTSW 6 125,111,567 (GRCm39) missense probably benign 0.00
R8898:Nop2 UTSW 6 125,114,118 (GRCm39) missense probably benign 0.00
R9087:Nop2 UTSW 6 125,114,391 (GRCm39) missense probably benign
R9200:Nop2 UTSW 6 125,117,843 (GRCm39) critical splice donor site probably null
R9587:Nop2 UTSW 6 125,117,785 (GRCm39) missense probably damaging 1.00
R9762:Nop2 UTSW 6 125,121,272 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTGAATCGACTGAGAGTTGGAG -3'
(R):5'- AGATCTACTTGAGAATACCCAGAAG -3'

Sequencing Primer
(F):5'- CGACTGAGAGTTGGAGATATAGGTAC -3'
(R):5'- AGAAGAGACTCACCTTTTCCTC -3'
Posted On 2015-01-23