Incidental Mutation 'IGL03188:Nipa2'
ID412517
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 #IGL03188
Quality Score
Status
Chromosome7
Chromosomal Location55931287-55962476 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 55932932 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Threonine at position 355 (N355T)
Ref Sequence ENSEMBL: ENSMUSP00000114020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032629] [ENSMUST00000032635] [ENSMUST00000085255] [ENSMUST00000117812] [ENSMUST00000119041] [ENSMUST00000119201] [ENSMUST00000126604] [ENSMUST00000152649] [ENSMUST00000163845]
Predicted Effect probably benign
Transcript: ENSMUST00000032629
SMART Domains Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:DUF1394 59 302 5.7e-11 PFAM
Pfam:FragX_IP 389 1222 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000032635
AA Change: N355T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032635
Gene: ENSMUSG00000030452
AA Change: N355T

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: ENSMUST00000085255
SMART Domains Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 385 1222 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117812
AA Change: N355T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113727
Gene: ENSMUSG00000030452
AA Change: N355T

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
AA Change: N355T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112394
Gene: ENSMUSG00000030452
AA Change: N355T

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
AA Change: N355T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114020
Gene: ENSMUSG00000030452
AA Change: N355T

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: ENSMUST00000130239
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 probably benign
Transcript: ENSMUST00000163845
SMART Domains Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 385 1224 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206417
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A G 4: 42,971,225 Y186C possibly damaging Het
Adamts18 C A 8: 113,699,024 C1202F probably damaging Het
Ago2 C T 15: 73,123,333 V466I probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aptx A T 4: 40,695,143 probably null Het
Aurka A T 2: 172,363,768 D123E possibly damaging Het
AW549877 A G 15: 3,988,705 Y163H probably damaging Het
Btaf1 T C 19: 36,949,108 I60T possibly damaging Het
Ccdc154 A T 17: 25,164,093 probably null Het
Cct5 T C 15: 31,598,002 N55S probably benign Het
Cntnap3 A G 13: 64,781,745 S547P probably damaging Het
Efl1 T A 7: 82,671,701 I114N probably damaging Het
Gprin1 T C 13: 54,738,652 D603G probably benign Het
Il16 A G 7: 83,688,163 S115P probably benign Het
Kalrn C A 16: 34,314,192 V401L probably benign Het
Kcnq4 T A 4: 120,704,426 K482I possibly damaging Het
L3mbtl3 C T 10: 26,342,617 A114T unknown Het
Lig1 G A 7: 13,311,107 probably benign Het
Lnx1 G A 5: 74,620,263 T199M probably damaging Het
Mapk13 A G 17: 28,776,583 probably benign Het
Mfsd2b A T 12: 4,866,538 probably null Het
Mrpl3 A G 9: 105,057,065 D137G probably benign Het
Muc15 A G 2: 110,731,699 D160G probably benign Het
Myh4 T C 11: 67,246,543 probably null Het
Olfr1396 T C 11: 49,113,709 N6D probably damaging Het
Olfr484 T C 7: 108,124,634 T210A probably benign Het
Olfr644 A G 7: 104,068,738 S98P possibly damaging Het
Olfr749 A T 14: 50,736,858 Y101* probably null Het
Pfkm G T 15: 98,123,243 probably null Het
Ppip5k1 A G 2: 121,326,846 probably benign Het
Ppp1r18 A G 17: 35,867,965 D244G possibly damaging Het
Scn2a T C 2: 65,671,653 S107P probably damaging Het
Scn5a A T 9: 119,522,566 I783N probably damaging Het
Snx1 A G 9: 66,094,452 W307R probably damaging Het
Stk11ip G A 1: 75,534,435 V928M probably benign Het
Tgm4 A G 9: 123,045,036 M114V probably null Het
Trpm2 G A 10: 77,918,909 R1248C probably benign Het
Txnrd1 T C 10: 82,885,046 I347T possibly damaging Het
Unc5a A G 13: 54,999,503 S106G probably damaging Het
Vmn2r85 T C 10: 130,418,743 M691V probably benign Het
Zfp58 T A 13: 67,491,409 Q321L probably benign Het
Other mutations in Nipa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Nipa2 APN 7 55933445 missense probably damaging 1.00
IGL01965:Nipa2 APN 7 55944623 start gained probably benign
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
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 On2016-08-02