Incidental Mutation 'R4523:Nop2'
ID 334304
Institutional Source Beutler Lab
Gene Symbol Nop2
Ensembl Gene ENSMUSG00000038279
Gene Name NOP2 nucleolar protein
Synonyms Nol1, 120kDa
MMRRC Submission 042004-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R4523 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 125108872-125121716 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 125110515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 47 (R47L)
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 damaging
Transcript: ENSMUST00000044200
AA Change: R47L

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
AA Change: R47L

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 damaging
Transcript: ENSMUST00000204185
AA Change: R47L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145333
Gene: ENSMUSG00000038279
AA Change: R47L

DomainStartEndE-ValueType
low complexity region 41 57 N/A INTRINSIC
low complexity region 97 109 N/A INTRINSIC
Meta Mutation Damage Score 0.1253 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (61/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 G T 5: 67,824,943 (GRCm39) T796K probably benign Het
Atr T C 9: 95,744,916 (GRCm39) S78P probably damaging Het
Calb2 C T 8: 110,875,141 (GRCm39) probably null Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cdca7 A G 2: 72,310,042 (GRCm39) S77G probably damaging Het
Cfap47 A T X: 78,553,601 (GRCm39) N291K possibly damaging Het
Cnot2 C T 10: 116,417,379 (GRCm39) probably benign Het
Cstf2t T A 19: 31,060,482 (GRCm39) V6D possibly damaging Het
Cybc1 A G 11: 121,114,934 (GRCm39) probably benign Het
Dido1 T C 2: 180,314,085 (GRCm39) I852V probably damaging Het
Dmgdh C T 13: 93,825,138 (GRCm39) Q154* probably null Het
Dnah12 T C 14: 26,491,979 (GRCm39) F1138S probably damaging Het
Dnah12 G A 14: 26,598,915 (GRCm39) A998T possibly damaging Het
Dusp5 T G 19: 53,526,032 (GRCm39) Y225D probably damaging Het
Fam193a G A 5: 34,600,715 (GRCm39) D601N probably benign Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Fmo2 T C 1: 162,715,277 (GRCm39) K115R probably benign Het
Gak G T 5: 108,724,432 (GRCm39) Q1093K probably benign Het
Gm5277 G T 3: 78,799,493 (GRCm39) noncoding transcript Het
Hgsnat A G 8: 26,458,389 (GRCm39) probably null Het
Hycc1 T C 5: 24,170,120 (GRCm39) T410A probably benign Het
Irag1 T C 7: 110,523,048 (GRCm39) M338V probably benign Het
Map3k3 G A 11: 106,039,694 (GRCm39) R278H probably damaging Het
Muc4 T C 16: 32,555,154 (GRCm39) probably benign Het
Nectin3 C A 16: 46,268,953 (GRCm39) R483L probably benign Het
Ntng1 A G 3: 109,842,312 (GRCm39) S154P probably damaging Het
Olfml2b T C 1: 170,496,791 (GRCm39) I474T probably benign Het
Optc G T 1: 133,831,492 (GRCm39) T138K possibly damaging Het
Or7g25 T C 9: 19,160,525 (GRCm39) T57A probably damaging Het
Or8k22 C G 2: 86,163,644 (GRCm39) D19H probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pard3 C T 8: 128,125,108 (GRCm39) P421S probably benign Het
Pcdhb22 G T 18: 37,653,474 (GRCm39) E647D probably benign Het
Pclo A G 5: 14,730,006 (GRCm39) probably benign Het
Prkce G T 17: 86,798,178 (GRCm39) probably null Het
Prr12 T C 7: 44,697,947 (GRCm39) D656G unknown Het
Ptprk A T 10: 28,342,048 (GRCm39) D485V probably damaging Het
Ptprn2 T C 12: 116,839,620 (GRCm39) L381P probably damaging Het
Rnf144b T C 13: 47,361,013 (GRCm39) I51T probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Sh3glb2 A T 2: 30,240,711 (GRCm39) V118E probably damaging Het
Sipa1l2 C T 8: 126,219,163 (GRCm39) G58D probably damaging Het
Slc5a4a C T 10: 75,984,196 (GRCm39) A46V probably damaging Het
Spmip8 T A 8: 96,039,638 (GRCm39) Y18* probably null Het
Tgm7 C A 2: 120,929,069 (GRCm39) probably null Het
Tjap1 A G 17: 46,569,718 (GRCm39) V424A probably benign Het
Trpm6 A T 19: 18,773,864 (GRCm39) I414F probably damaging Het
Tsr3 C G 17: 25,460,723 (GRCm39) D196E probably benign Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn2r72 T A 7: 85,401,134 (GRCm39) H95L probably benign Het
Vmn2r97 T A 17: 19,149,333 (GRCm39) N240K probably benign Het
Xdh C A 17: 74,205,339 (GRCm39) G1042V probably damaging Het
Zcchc4 A G 5: 52,941,409 (GRCm39) D68G 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
R3160:Nop2 UTSW 6 125,111,555 (GRCm39) missense probably benign 0.00
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
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'- CCGTGGGTGAATATGAGGAC -3'
(R):5'- TTGGCTTAGGGACGTCAACAG -3'

Sequencing Primer
(F):5'- GGTGAATATGAGGACTTGTACATAAC -3'
(R):5'- TTAGGGACGTCAACAGACCCTG -3'
Posted On 2015-08-18