Incidental Mutation 'IGL00657:Nipal2'
ID12356
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nipal2
Ensembl Gene ENSMUSG00000038879
Gene NameNIPA-like domain containing 2
SynonymsNpal2, 9330161F08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL00657
Quality Score
Status
Chromosome15
Chromosomal Location34572799-34679212 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34600078 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 198 (Y198H)
Ref Sequence ENSEMBL: ENSMUSP00000038922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040791] [ENSMUST00000228073]
Predicted Effect probably damaging
Transcript: ENSMUST00000040791
AA Change: Y198H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038922
Gene: ENSMUSG00000038879
AA Change: Y198H

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 45 332 1.5e-121 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227222
Predicted Effect probably benign
Transcript: ENSMUST00000228073
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cntnap2 A G 6: 46,988,787 D844G probably damaging Het
Krt7 A G 15: 101,427,085 probably benign Het
Lrig2 T C 3: 104,467,171 E556G probably damaging Het
Mettl15 A G 2: 109,093,207 I290T probably damaging Het
Mysm1 T C 4: 94,960,365 E477G probably benign Het
Nasp T C 4: 116,604,219 Y234C probably damaging Het
Nup153 T A 13: 46,681,150 probably benign Het
Prdm1 A G 10: 44,441,892 S327P probably damaging Het
Rhobtb1 C A 10: 69,270,221 D267E probably damaging Het
Sec31a G A 5: 100,404,017 Q166* probably null Het
Sphkap A G 1: 83,276,375 C931R probably damaging Het
Sytl2 A G 7: 90,401,410 R695G probably benign Het
Usp31 A G 7: 121,648,231 S1330P probably benign Het
Other mutations in Nipal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Nipal2 APN 15 34600118 splice site probably benign
IGL02882:Nipal2 APN 15 34600077 missense probably damaging 1.00
IGL03230:Nipal2 APN 15 34575556 missense probably damaging 0.97
PIT4486001:Nipal2 UTSW 15 34584729 missense probably damaging 0.99
R0603:Nipal2 UTSW 15 34650398 missense probably damaging 0.97
R1255:Nipal2 UTSW 15 34584682 missense probably benign 0.30
R1530:Nipal2 UTSW 15 34625022 makesense probably null
R1673:Nipal2 UTSW 15 34648695 missense probably damaging 0.99
R1857:Nipal2 UTSW 15 34678633 missense possibly damaging 0.93
R1888:Nipal2 UTSW 15 34625021 missense possibly damaging 0.49
R1888:Nipal2 UTSW 15 34625021 missense possibly damaging 0.49
R3825:Nipal2 UTSW 15 34578706 critical splice donor site probably null
R4016:Nipal2 UTSW 15 34600061 missense possibly damaging 0.91
R4656:Nipal2 UTSW 15 34577568 critical splice donor site probably null
R6159:Nipal2 UTSW 15 34600026 missense probably damaging 1.00
R7082:Nipal2 UTSW 15 34584663 missense possibly damaging 0.95
R7263:Nipal2 UTSW 15 34578758 nonsense probably null
X0065:Nipal2 UTSW 15 34609261 nonsense probably null
Posted On2012-12-06