Incidental Mutation 'IGL01965:Nipa2'
ID182517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nipa2
Ensembl Gene ENSMUSG00000030452
Gene Namenon imprinted in Prader-Willi/Angelman syndrome 2 homolog (human)
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.888) question?
Stock #IGL01965
Quality Score
Status
Chromosome7
Chromosomal Location55931287-55962476 bp(-) (GRCm38)
Type of Mutationstart gained
DNA Base Change (assembly) G to A at 55944623 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032635] [ENSMUST00000117812] [ENSMUST00000119041] [ENSMUST00000119201] [ENSMUST00000126604] [ENSMUST00000143325] [ENSMUST00000152649]
Predicted Effect probably benign
Transcript: ENSMUST00000032635
SMART Domains Protein: ENSMUSP00000032635
Gene: ENSMUSG00000030452

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 6 306 3.2e-150 PFAM
Pfam:EmrE 16 135 6.2e-12 PFAM
Pfam:EamA 52 128 9.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117812
SMART Domains Protein: ENSMUSP00000113727
Gene: ENSMUSG00000030452

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 8 302 1.4e-151 PFAM
Pfam:EamA 47 128 4.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119041
SMART Domains Protein: ENSMUSP00000112394
Gene: ENSMUSG00000030452

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 6 306 3.2e-150 PFAM
Pfam:EmrE 16 135 6.2e-12 PFAM
Pfam:EamA 52 128 9.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119201
SMART Domains Protein: ENSMUSP00000114020
Gene: ENSMUSG00000030452

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 6 306 3.2e-150 PFAM
Pfam:EmrE 16 135 6.2e-12 PFAM
Pfam:EamA 52 128 9.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126604
SMART Domains Protein: ENSMUSP00000116219
Gene: ENSMUSG00000030452

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 6 130 1.2e-66 PFAM
Pfam:EmrE 14 130 1.8e-11 PFAM
Pfam:EamA 50 128 1.8e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135849
Predicted Effect probably benign
Transcript: ENSMUST00000143325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147950
Predicted Effect probably benign
Transcript: ENSMUST00000152649
SMART Domains Protein: ENSMUSP00000120798
Gene: ENSMUSG00000030452

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 6 127 1.9e-53 PFAM
Pfam:EamA 10 109 1.8e-9 PFAM
Pfam:EmrE 18 116 1.1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205773
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik T A 10: 51,756,982 noncoding transcript Het
Adm C T 7: 110,628,625 L67F probably benign Het
Bcl10 C T 3: 145,933,184 R194* probably null Het
Brat1 T C 5: 140,718,056 V688A probably benign Het
Cep57 T A 9: 13,821,520 probably benign Het
Dhx57 G A 17: 80,268,850 R604W probably damaging Het
Fndc3a A G 14: 72,540,402 I1121T probably benign Het
Fry A G 5: 150,381,621 E597G probably damaging Het
Gabra2 A G 5: 71,008,075 probably benign Het
Golgb1 A G 16: 36,917,920 D2207G probably damaging Het
Htr4 T A 18: 62,437,669 M265K probably damaging Het
Igf2r C T 17: 12,704,338 V1195M probably benign Het
Itga2 C A 13: 114,848,064 probably benign Het
Itih3 T C 14: 30,915,720 H494R probably damaging Het
Itpkb C A 1: 180,332,405 T32K probably damaging Het
Kif16b A T 2: 142,848,405 D252E probably damaging Het
Klhl33 A G 14: 50,891,730 Y681H probably damaging Het
Lats1 T A 10: 7,701,706 V198E probably benign Het
Me3 A G 7: 89,851,743 D554G probably benign Het
Mindy4 C T 6: 55,260,532 probably benign Het
Olfr1162 A G 2: 88,050,436 F63L probably benign Het
Olfr1221 G A 2: 89,112,191 T107I probably benign Het
Olfr569 T C 7: 102,887,607 E182G probably damaging Het
Olfr916 A T 9: 38,657,622 F257I probably benign Het
Ptgis A T 2: 167,208,253 W319R probably benign Het
Pygl C T 12: 70,191,114 A717T probably benign Het
Rbbp8 A T 18: 11,722,260 K514I probably benign Het
Scn9a A T 2: 66,484,433 L1636H probably damaging Het
Serpina3j A G 12: 104,314,804 T79A probably benign Het
Sfxn4 A G 19: 60,858,744 probably benign Het
Shc2 T A 10: 79,627,189 probably benign Het
Sim2 A T 16: 94,121,178 Y294F probably benign Het
Tep1 A G 14: 50,863,495 probably benign Het
Ubr1 A G 2: 120,875,398 L1528P probably damaging Het
Usp53 A G 3: 122,961,153 probably null Het
Vmn2r87 G T 10: 130,479,055 L221I possibly damaging Het
Other mutations in Nipa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Nipa2 APN 7 55933445 missense probably damaging 1.00
IGL02373:Nipa2 APN 7 55933128 missense probably benign 0.01
IGL02812:Nipa2 APN 7 55943018 missense probably damaging 1.00
IGL03079:Nipa2 APN 7 55933457 missense probably damaging 1.00
IGL03188:Nipa2 APN 7 55932932 missense probably benign
R1327:Nipa2 UTSW 7 55944508 missense possibly damaging 0.81
R2356:Nipa2 UTSW 7 55932966 missense probably benign 0.00
R3758:Nipa2 UTSW 7 55935941 missense probably damaging 1.00
R3870:Nipa2 UTSW 7 55932942 missense probably damaging 1.00
R4684:Nipa2 UTSW 7 55935826 missense probably benign
R4775:Nipa2 UTSW 7 55935863 missense probably benign 0.19
R5285:Nipa2 UTSW 7 55933012 nonsense probably null
R6453:Nipa2 UTSW 7 55935821 missense probably damaging 0.98
R6880:Nipa2 UTSW 7 55933251 missense probably damaging 0.99
R7459:Nipa2 UTSW 7 55933341 missense probably damaging 1.00
Posted On2014-05-07