Incidental Mutation 'IGL02568:Nop2'
ID298929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nop2
Ensembl Gene ENSMUSG00000038279
Gene NameNOP2 nucleolar protein
Synonyms120kDa, Nol1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.969) question?
Stock #IGL02568
Quality Score
Status
Chromosome6
Chromosomal Location125131909-125144753 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 125140850 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 455 (S455P)
Ref Sequence ENSEMBL: ENSMUSP00000047123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044200] [ENSMUST00000117675] [ENSMUST00000119527] [ENSMUST00000144364]
Predicted Effect probably damaging
Transcript: ENSMUST00000044200
AA Change: S455P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047123
Gene: ENSMUSG00000038279
AA Change: S455P

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: ENSMUST00000117675
SMART Domains Protein: ENSMUSP00000113088
Gene: ENSMUSG00000038271

DomainStartEndE-ValueType
coiled coil region 21 58 N/A INTRINSIC
low complexity region 105 126 N/A INTRINSIC
coiled coil region 190 242 N/A INTRINSIC
low complexity region 362 375 N/A INTRINSIC
low complexity region 381 392 N/A INTRINSIC
PDB:1GK4|F 393 459 6e-7 PDB
low complexity region 474 497 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119527
SMART Domains Protein: ENSMUSP00000113376
Gene: ENSMUSG00000038271

DomainStartEndE-ValueType
coiled coil region 21 58 N/A INTRINSIC
low complexity region 105 126 N/A INTRINSIC
coiled coil region 190 242 N/A INTRINSIC
low complexity region 359 372 N/A INTRINSIC
low complexity region 378 389 N/A INTRINSIC
PDB:1GK4|F 390 456 6e-7 PDB
low complexity region 471 494 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141230
Predicted Effect probably benign
Transcript: ENSMUST00000144364
SMART Domains Protein: ENSMUSP00000116701
Gene: ENSMUSG00000038271

DomainStartEndE-ValueType
coiled coil region 21 58 N/A INTRINSIC
low complexity region 105 126 N/A INTRINSIC
coiled coil region 190 242 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148835
SMART Domains Protein: ENSMUSP00000115080
Gene: ENSMUSG00000038271

DomainStartEndE-ValueType
Filament 34 348 4.99e-2 SMART
low complexity region 356 379 N/A INTRINSIC
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,148,981 probably benign Het
Abcg5 C T 17: 84,670,399 R143Q probably damaging Het
Arap3 G A 18: 37,996,658 T150I probably benign Het
Arhgap32 T C 9: 32,247,194 V175A probably damaging Het
Bpifb3 A G 2: 153,924,801 E208G probably benign Het
C2 T A 17: 34,864,349 D518V possibly damaging Het
C6 T A 15: 4,791,164 C552* probably null Het
Ccdc38 A T 10: 93,579,823 D447V probably damaging Het
Cept1 C T 3: 106,503,719 R386H probably benign Het
Comt A G 16: 18,411,704 V85A probably damaging Het
Ddx24 G T 12: 103,417,312 L627I probably damaging Het
Efemp1 T C 11: 28,916,971 probably null Het
Etf1 T C 18: 34,913,661 T99A possibly damaging Het
Fhad1 T C 4: 141,932,794 E68G probably null Het
Fzd3 C A 14: 65,235,940 probably benign Het
Gins3 T C 8: 95,637,978 F119L probably benign Het
Golga5 G T 12: 102,472,079 V18L probably benign Het
Il16 C A 7: 83,661,276 R474M probably damaging Het
Itpr1 C A 6: 108,339,554 Q71K possibly damaging Het
Kif21b T G 1: 136,172,867 L1562R probably damaging Het
Lamc2 T C 1: 153,166,262 E42G possibly damaging Het
Mmp3 T G 9: 7,446,001 L35R probably benign Het
Naip6 C A 13: 100,316,272 G94W probably damaging Het
Nccrp1 G A 7: 28,544,480 A226V probably damaging Het
Nckap5l A G 15: 99,425,683 Y980H probably damaging Het
Ncoa3 T C 2: 166,069,357 S1345P probably damaging Het
Nup93 T C 8: 94,309,635 F689S probably damaging Het
Olfr1466 T C 19: 13,342,219 F154L probably benign Het
Plekhm1 T A 11: 103,395,050 E186D probably damaging Het
Plxdc1 T C 11: 97,978,564 Q66R probably damaging Het
Prkdc T G 16: 15,726,542 Y1799D probably damaging Het
Rasa2 A G 9: 96,580,510 F220L probably damaging Het
Rftn1 T C 17: 50,036,999 D87G probably damaging Het
Rgs6 C T 12: 83,070,602 T266M probably benign Het
Sec16a A G 2: 26,436,042 Y1208H probably damaging Het
Slc12a1 G T 2: 125,184,728 V428L probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T A 4: 58,135,441 T556S probably benign Het
Tanc2 T A 11: 105,776,951 N119K probably benign Het
Tpgs1 T A 10: 79,669,404 probably benign Het
Tpm3-rs7 A G 14: 113,314,938 E88G probably damaging Het
Tsr1 T C 11: 74,900,378 V261A probably benign Het
Usp18 C T 6: 121,261,091 T143I probably benign Het
Vmn2r24 T C 6: 123,815,853 I713T probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Nop2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Nop2 APN 6 125133546 missense probably damaging 1.00
IGL00913:Nop2 APN 6 125139821 missense probably damaging 1.00
IGL02850:Nop2 APN 6 125144085 missense possibly damaging 0.67
IGL02850:Nop2 APN 6 125144070 missense probably benign 0.01
IGL02851:Nop2 APN 6 125144085 missense possibly damaging 0.67
IGL02851:Nop2 APN 6 125144070 missense probably benign 0.01
IGL03144:Nop2 APN 6 125137512 critical splice donor site probably null
IGL03338:Nop2 APN 6 125139732 splice site probably null
R0211:Nop2 UTSW 6 125141344 missense probably damaging 1.00
R0211:Nop2 UTSW 6 125141344 missense probably damaging 1.00
R0486:Nop2 UTSW 6 125140673 missense probably null 0.14
R0627:Nop2 UTSW 6 125139704 missense possibly damaging 0.90
R1022:Nop2 UTSW 6 125137186 missense probably benign 0.02
R1024:Nop2 UTSW 6 125137186 missense probably benign 0.02
R1068:Nop2 UTSW 6 125132279 missense probably damaging 0.99
R1750:Nop2 UTSW 6 125137638 missense probably benign 0.00
R1847:Nop2 UTSW 6 125137079 unclassified probably benign
R1940:Nop2 UTSW 6 125134634 missense probably benign 0.43
R1972:Nop2 UTSW 6 125134639 missense probably benign 0.02
R2059:Nop2 UTSW 6 125139860 missense probably null 0.95
R2100:Nop2 UTSW 6 125140822 missense probably damaging 1.00
R3123:Nop2 UTSW 6 125132201 utr 5 prime probably benign
R3124:Nop2 UTSW 6 125132201 utr 5 prime probably benign
R3160:Nop2 UTSW 6 125134592 missense probably benign 0.00
R3162:Nop2 UTSW 6 125134592 missense probably benign 0.00
R4521:Nop2 UTSW 6 125133552 missense probably damaging 1.00
R4522:Nop2 UTSW 6 125133552 missense probably damaging 1.00
R4523:Nop2 UTSW 6 125133552 missense probably damaging 1.00
R4524:Nop2 UTSW 6 125133552 missense probably damaging 1.00
R4571:Nop2 UTSW 6 125140881 critical splice donor site probably null
R4695:Nop2 UTSW 6 125144556 missense probably benign 0.00
R4747:Nop2 UTSW 6 125137094 missense probably benign
R5010:Nop2 UTSW 6 125133763 missense probably benign 0.00
R5385:Nop2 UTSW 6 125144361 missense probably benign
R5455:Nop2 UTSW 6 125140643 missense probably benign 0.19
R5567:Nop2 UTSW 6 125133763 missense probably benign 0.00
R5914:Nop2 UTSW 6 125134728 missense probably benign 0.01
R5993:Nop2 UTSW 6 125144019 missense probably benign 0.00
R6031:Nop2 UTSW 6 125133566 critical splice donor site probably null
R6031:Nop2 UTSW 6 125133566 critical splice donor site probably null
R6065:Nop2 UTSW 6 125144565 missense probably benign
R6352:Nop2 UTSW 6 125137207 missense probably benign
R6436:Nop2 UTSW 6 125137311 missense probably benign 0.01
R7393:Nop2 UTSW 6 125133546 nonsense probably null
R7499:Nop2 UTSW 6 125144208 missense possibly damaging 0.75
Posted On2015-04-16