Incidental Mutation 'R3617:Nupl2'
ID268467
Institutional Source Beutler Lab
Gene Symbol Nupl2
Ensembl Gene ENSMUSG00000048439
Gene Namenucleoporin like 2
SynonymsCG1
MMRRC Submission 040674-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.872) question?
Stock #R3617 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location24164963-24184013 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24182327 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 372 (S372P)
Ref Sequence ENSEMBL: ENSMUSP00000062766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049887] [ENSMUST00000115101]
Predicted Effect probably benign
Transcript: ENSMUST00000049887
AA Change: S372P

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000062766
Gene: ENSMUSG00000048439
AA Change: S372P

DomainStartEndE-ValueType
Blast:ZnF_C3H1 1 22 2e-10 BLAST
low complexity region 23 41 N/A INTRINSIC
coiled coil region 174 195 N/A INTRINSIC
low complexity region 266 287 N/A INTRINSIC
low complexity region 305 322 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115101
SMART Domains Protein: ENSMUSP00000110753
Gene: ENSMUSG00000048439

DomainStartEndE-ValueType
Blast:ZnF_C3H1 1 22 3e-9 BLAST
low complexity region 23 41 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124150
Meta Mutation Damage Score 0.1301 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,679,289 V460A probably damaging Het
Aplf T C 6: 87,671,883 I25V possibly damaging Het
Ascc3 A G 10: 50,618,185 T239A probably benign Het
Bahd1 G A 2: 118,922,523 R757H probably damaging Het
Cbfa2t2 A T 2: 154,436,984 probably benign Het
Cdkn1c C T 7: 143,459,794 probably benign Het
Cfap46 A G 7: 139,639,599 S1317P probably benign Het
Cntln C T 4: 85,004,977 Q560* probably null Het
Cntn2 G C 1: 132,528,623 A161G probably benign Het
Crybg1 A G 10: 43,956,786 I1991T possibly damaging Het
Cttnbp2 T C 6: 18,414,190 E952G probably damaging Het
Dhx36 T C 3: 62,472,007 T887A possibly damaging Het
Dhx36 A G 3: 62,487,060 F512L probably benign Het
Fthl17f A G X: 9,063,623 T153A probably benign Het
Gad1-ps T A 10: 99,445,398 noncoding transcript Het
Gba2 C T 4: 43,573,803 R163H probably damaging Het
Gm10717 A G 9: 3,025,532 Y39C probably benign Het
Gm17019 A T 5: 15,031,067 M120K possibly damaging Het
Gm8251 T C 1: 44,060,954 D328G probably benign Het
Helz2 C T 2: 181,233,061 R1880H probably damaging Het
Ifi204 T C 1: 173,755,717 I312V possibly damaging Het
Kncn T C 4: 115,885,892 F55L probably benign Het
Kndc1 G A 7: 139,902,060 probably benign Het
Nat8f3 C A 6: 85,761,688 A31S probably benign Het
Ndst4 T C 3: 125,438,133 I117T probably benign Het
Ndufa9 G T 6: 126,849,108 probably benign Het
Pde6a A G 18: 61,231,503 probably benign Het
Pigw T C 11: 84,878,307 I65M probably damaging Het
Pip A G 6: 41,851,937 T139A probably benign Het
Rel A T 11: 23,745,780 D202E probably damaging Het
Rhot2 A G 17: 25,840,981 probably benign Het
Sh3rf3 G A 10: 59,086,863 R587Q possibly damaging Het
Sim1 T A 10: 50,909,528 M231K probably damaging Het
Slc12a9 G A 5: 137,332,497 T47M probably damaging Het
Slc4a4 A G 5: 89,234,804 D1036G probably benign Het
Tas2r143 A T 6: 42,401,063 I276F probably benign Het
Tgfbr3 A T 5: 107,140,619 F392Y possibly damaging Het
Tmem266 T C 9: 55,400,634 V148A probably damaging Het
Ubiad1 A G 4: 148,436,360 I269T probably benign Het
Vwc2l A G 1: 70,728,882 probably null Het
Zbtb49 G A 5: 38,200,631 probably benign Het
Other mutations in Nupl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Nupl2 APN 5 24182043 missense possibly damaging 0.92
IGL01992:Nupl2 APN 5 24181103 missense probably benign 0.01
IGL02638:Nupl2 APN 5 24175507 missense probably benign 0.03
IGL03197:Nupl2 APN 5 24167465 missense probably damaging 0.98
R1484:Nupl2 UTSW 5 24178077 missense probably benign 0.08
R2004:Nupl2 UTSW 5 24181991 nonsense probably null
R4004:Nupl2 UTSW 5 24182436 missense probably damaging 0.96
R4547:Nupl2 UTSW 5 24177970 intron probably benign
R4669:Nupl2 UTSW 5 24182417 missense probably benign 0.21
R5974:Nupl2 UTSW 5 24167402 missense probably damaging 1.00
R6189:Nupl2 UTSW 5 24175454 missense probably damaging 1.00
R6315:Nupl2 UTSW 5 24167504 missense probably damaging 0.97
R6914:Nupl2 UTSW 5 24181084 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGTTCCAGTTTTGCATCACC -3'
(R):5'- AGACTGTAGGCATGCAGGAC -3'

Sequencing Primer
(F):5'- CATCACCTGGGTTTTCGGGATTTC -3'
(R):5'- CCTGGCTAAGGCATTCTTTCTG -3'
Posted On2015-02-19