Incidental Mutation 'IGL02882:Nipal2'
ID362851
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 #IGL02882
Quality Score
Status
Chromosome15
Chromosomal Location34572799-34679212 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34600077 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 198 (Y198C)
Ref Sequence ENSEMBL: ENSMUSP00000038922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040791] [ENSMUST00000228073]
Predicted Effect probably damaging
Transcript: ENSMUST00000040791
AA Change: Y198C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038922
Gene: ENSMUSG00000038879
AA Change: Y198C

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A T 9: 44,277,489 L469* probably null Het
Calr3 T A 8: 72,434,821 Y46F probably damaging Het
Clcn4 A G 7: 7,290,465 C491R probably damaging Het
Col6a5 G T 9: 105,934,321 D666E unknown Het
D130052B06Rik G A 11: 33,623,780 V126M probably damaging Het
Ddx27 A G 2: 167,027,913 I389M possibly damaging Het
Dgka T C 10: 128,733,384 I160V possibly damaging Het
E430018J23Rik A G 7: 127,392,252 Y188H probably damaging Het
Enpp6 T C 8: 47,030,532 S120P probably damaging Het
Ezh1 A G 11: 101,203,289 I459T probably benign Het
Fam91a1 A G 15: 58,453,061 probably benign Het
Foxn2 T C 17: 88,462,947 L74P probably damaging Het
Fscn2 T C 11: 120,362,499 V264A probably benign Het
Gmeb2 G A 2: 181,265,883 T54I probably damaging Het
Hmcn2 A T 2: 31,413,367 K3007* probably null Het
Ice1 A T 13: 70,624,474 probably benign Het
Lgi1 A G 19: 38,284,005 D84G probably benign Het
Mier2 T C 10: 79,547,721 I196V probably damaging Het
Npas2 A C 1: 39,312,996 S176R probably benign Het
Olfr914 A T 9: 38,606,938 I158F probably benign Het
Pam A C 1: 97,840,367 C713G probably damaging Het
Pcdh17 C A 14: 84,446,661 D189E probably damaging Het
Pcdhb8 T A 18: 37,356,223 I318N possibly damaging Het
Pcyt2 A G 11: 120,611,407 S300P possibly damaging Het
Pkdrej A G 15: 85,817,296 S1480P probably damaging Het
Plekhd1 G A 12: 80,719,007 probably null Het
Plxna2 A T 1: 194,762,570 S757C probably damaging Het
Prkdc A T 16: 15,651,519 K163* probably null Het
Serpina3f A T 12: 104,217,004 T42S probably damaging Het
Sesn2 T C 4: 132,493,793 N456D probably benign Het
Tas2r105 A T 6: 131,687,180 L95Q possibly damaging Het
Tln1 A G 4: 43,539,522 V1600A probably benign Het
Zfp808 A G 13: 62,173,180 K741R probably benign Het
Other mutations in Nipal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00657:Nipal2 APN 15 34600078 missense probably damaging 1.00
IGL01555:Nipal2 APN 15 34600118 splice site probably benign
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 On2015-12-18