Incidental Mutation 'R2142:Nipa1'
ID 236372
Institutional Source Beutler Lab
Gene Symbol Nipa1
Ensembl Gene ENSMUSG00000047037
Gene Name non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human)
Synonyms 1110027G09Rik, A830014A18Rik, Spg6
MMRRC Submission 040145-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2142 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 55628232-55669348 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to A at 55647259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000053871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052204]
AlphaFold Q8BHK1
Predicted Effect probably null
Transcript: ENSMUST00000052204
SMART Domains Protein: ENSMUSP00000053871
Gene: ENSMUSG00000047037

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 21 308 1.6e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206943
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T A 9: 63,523,957 (GRCm39) probably null Het
Adgrb3 G T 1: 25,107,290 (GRCm39) P640T probably damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Afdn A G 17: 14,030,695 (GRCm39) E202G probably damaging Het
Alkbh2 C T 5: 114,263,777 (GRCm39) V77I probably benign Het
Angpt2 T C 8: 18,764,156 (GRCm39) T129A probably benign Het
Atp6v0a4 T A 6: 38,059,871 (GRCm39) K236* probably null Het
Baz1b G A 5: 135,246,129 (GRCm39) R526H probably damaging Het
Bltp3b A G 10: 89,647,910 (GRCm39) D207G probably damaging Het
Bscl2 T C 19: 8,822,684 (GRCm39) probably null Het
Btnl9 G T 11: 49,061,453 (GRCm39) probably null Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cdh8 C A 8: 99,838,325 (GRCm39) C505F probably damaging Het
Cep112 A G 11: 108,497,151 (GRCm39) E697G probably damaging Het
Ces1c T A 8: 93,857,468 (GRCm39) I38F probably benign Het
Cfhr2 T G 1: 139,758,893 (GRCm39) R52S probably benign Het
Clcn6 A G 4: 148,108,594 (GRCm39) F145S possibly damaging Het
Cnksr1 A G 4: 133,956,939 (GRCm39) Y488H probably damaging Het
Cntrl CAGAG CAG 2: 35,012,818 (GRCm39) probably null Het
Col25a1 A G 3: 130,363,965 (GRCm39) H546R probably damaging Het
Crot A T 5: 9,037,780 (GRCm39) Y179N possibly damaging Het
Dck T C 5: 88,920,582 (GRCm39) C101R probably damaging Het
Ddb1 T C 19: 10,596,490 (GRCm39) probably null Het
Dnah7b T A 1: 46,307,830 (GRCm39) M3048K probably damaging Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Efnb1 A G X: 98,191,123 (GRCm39) Y343C probably damaging Het
Elf2 A G 3: 51,163,861 (GRCm39) V496A probably damaging Het
Esco1 A G 18: 10,574,873 (GRCm39) probably null Het
Fbn1 T G 2: 125,254,628 (GRCm39) T212P possibly damaging Het
Fuca2 A G 10: 13,381,609 (GRCm39) Y174C probably damaging Het
Gabarap C T 11: 69,882,515 (GRCm39) probably benign Het
Gdf2 A G 14: 33,667,198 (GRCm39) T307A probably benign Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Glyatl3 T C 17: 41,221,975 (GRCm39) D93G probably benign Het
Gm266 C T 12: 111,451,615 (GRCm39) R197K possibly damaging Het
Gns G A 10: 121,228,683 (GRCm39) R498H probably damaging Het
Gprasp1 G A X: 134,702,791 (GRCm39) E995K possibly damaging Het
Grk6 T C 13: 55,602,177 (GRCm39) W335R probably damaging Het
Helz2 T C 2: 180,873,173 (GRCm39) E2379G probably benign Het
Hmx2 A T 7: 131,157,588 (GRCm39) D234V probably damaging Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Ipo9 CCT CCTTCT 1: 135,314,020 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 TCC TCCGCC 1: 135,314,013 (GRCm39) probably benign Het
Itpkc A G 7: 26,919,075 (GRCm39) V397A possibly damaging Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kat5 T A 19: 5,655,713 (GRCm39) probably null Het
Kctd16 A G 18: 40,392,231 (GRCm39) E273G possibly damaging Het
Kdr T C 5: 76,129,083 (GRCm39) T188A possibly damaging Het
Kif18a T A 2: 109,163,848 (GRCm39) N732K probably benign Het
Laptm4b G T 15: 34,238,478 (GRCm39) M3I probably benign Het
Macf1 C T 4: 123,248,895 (GRCm39) C7210Y probably damaging Het
Man1a T C 10: 53,811,094 (GRCm39) N338S probably damaging Het
Mical3 A T 6: 121,008,095 (GRCm39) probably null Het
Micall1 T C 15: 79,014,995 (GRCm39) Y751H probably damaging Het
Mki67 A G 7: 135,297,321 (GRCm39) I2571T possibly damaging Het
Mx2 G A 16: 97,339,903 (GRCm39) E20K probably benign Het
Myh2 A G 11: 67,080,158 (GRCm39) E1124G probably damaging Het
Myo10 A G 15: 25,714,194 (GRCm39) E87G probably benign Het
Nat10 T C 2: 103,561,648 (GRCm39) probably null Het
Nrbp1 A G 5: 31,405,273 (GRCm39) E287G possibly damaging Het
Nup188 T A 2: 30,226,718 (GRCm39) I1165N possibly damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or14j4 T G 17: 37,921,362 (GRCm39) E93D probably benign Het
Or2y13 A G 11: 49,414,666 (GRCm39) I39V probably benign Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or4k48 C A 2: 111,475,566 (GRCm39) V259L probably benign Het
Or51a10 C T 7: 103,699,507 (GRCm39) G18D probably damaging Het
Or6c1b A G 10: 129,273,616 (GRCm39) K312E probably benign Het
Or9g3 C T 2: 85,590,021 (GRCm39) R233H probably benign Het
Panx3 G C 9: 37,577,969 (GRCm39) S87W probably damaging Het
Parp8 T A 13: 117,031,422 (GRCm39) D430V probably benign Het
Pcdhb11 A G 18: 37,555,176 (GRCm39) N169D probably benign Het
Pdzd2 C A 15: 12,406,645 (GRCm39) G605V probably damaging Het
Phkg2 G A 7: 127,181,386 (GRCm39) probably null Het
Pkhd1 T A 1: 20,594,119 (GRCm39) K1331N probably benign Het
Plcb4 G A 2: 135,818,019 (GRCm39) V762M probably damaging Het
Plec T C 15: 76,067,374 (GRCm39) T1331A probably benign Het
Pot1a T C 6: 25,750,043 (GRCm39) probably null Het
Prb1a T A 6: 132,184,166 (GRCm39) Q489L unknown Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Psme4 A G 11: 30,770,998 (GRCm39) Y782C possibly damaging Het
Rab11fip5 T C 6: 85,314,210 (GRCm39) probably null Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Rit2 A G 18: 31,286,766 (GRCm39) F140L probably benign Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Rorc G A 3: 94,296,833 (GRCm39) R271Q probably benign Het
Sall3 A T 18: 81,013,046 (GRCm39) M1130K probably damaging Het
Sart3 T C 5: 113,902,154 (GRCm39) E141G probably damaging Het
Serpina9 T C 12: 103,974,568 (GRCm39) D195G probably benign Het
Slitrk6 T G 14: 110,988,226 (GRCm39) T494P probably benign Het
Tars3 A T 7: 65,308,645 (GRCm39) I272L probably benign Het
Tas2r115 T C 6: 132,714,321 (GRCm39) K210R probably benign Het
Tdpoz3 C T 3: 93,734,206 (GRCm39) H294Y probably benign Het
Tesl1 T A X: 23,773,549 (GRCm39) V350E probably benign Het
Tigd4 A G 3: 84,501,670 (GRCm39) T196A possibly damaging Het
Treh G A 9: 44,592,438 (GRCm39) M54I probably damaging Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Ubap1 C T 4: 41,379,257 (GRCm39) A157V probably damaging Het
Ubr4 C T 4: 139,204,518 (GRCm39) T4810M probably damaging Het
Xrcc6 T A 15: 81,907,178 (GRCm39) F167I probably damaging Het
Zfp281 GCGGCAGCTCCGGCAGC GCGGCAGCTCCGGCAGCTCCGGCAGC 1: 136,553,091 (GRCm39) probably benign Het
Zfp473 T C 7: 44,382,501 (GRCm39) T610A possibly damaging Het
Zfp606 T C 7: 12,213,653 (GRCm39) I4T probably damaging Het
Zfp638 T A 6: 83,963,578 (GRCm39) N1918K probably damaging Het
Zfp65 G T 13: 67,856,311 (GRCm39) H333N probably damaging Het
Other mutations in Nipa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Nipa1 APN 7 55,629,409 (GRCm39) missense probably benign 0.20
impressionless UTSW 7 55,629,354 (GRCm39) missense probably benign 0.04
untouched UTSW 7 55,629,571 (GRCm39) missense probably damaging 1.00
R2116:Nipa1 UTSW 7 55,635,273 (GRCm39) missense possibly damaging 0.69
R2141:Nipa1 UTSW 7 55,647,259 (GRCm39) splice site probably null
R4823:Nipa1 UTSW 7 55,629,436 (GRCm39) missense possibly damaging 0.71
R5424:Nipa1 UTSW 7 55,629,223 (GRCm39) missense possibly damaging 0.90
R5463:Nipa1 UTSW 7 55,629,205 (GRCm39) nonsense probably null
R6459:Nipa1 UTSW 7 55,629,354 (GRCm39) missense probably benign 0.04
R6468:Nipa1 UTSW 7 55,669,252 (GRCm39) missense probably benign 0.39
R6615:Nipa1 UTSW 7 55,629,571 (GRCm39) missense probably damaging 1.00
R7662:Nipa1 UTSW 7 55,629,372 (GRCm39) missense probably damaging 0.98
R7921:Nipa1 UTSW 7 55,629,558 (GRCm39) missense probably damaging 1.00
R7957:Nipa1 UTSW 7 55,629,547 (GRCm39) missense probably damaging 1.00
R8445:Nipa1 UTSW 7 55,629,466 (GRCm39) missense probably benign 0.03
X0064:Nipa1 UTSW 7 55,629,507 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCATCTATTCTCTTTCAGCAAAGA -3'
(R):5'- TGGTGTACATGTGTCTTCAGAG -3'

Sequencing Primer
(F):5'- TCTTTCAGCAAAGAGAAGGACAAC -3'
(R):5'- TGCGGAGGCTCTGAAATCATATCC -3'
Posted On 2014-10-01