Incidental Mutation 'R5885:Nipal3'
ID 456030
Institutional Source Beutler Lab
Gene Symbol Nipal3
Ensembl Gene ENSMUSG00000028803
Gene Name NIPA-like domain containing 3
Synonyms Npal3, 9130020G22Rik
MMRRC Submission 043237-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R5885 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 135173454-135222283 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135199288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 186 (V186E)
Ref Sequence ENSEMBL: ENSMUSP00000139088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102549] [ENSMUST00000105856] [ENSMUST00000183807]
AlphaFold Q8BGN5
Predicted Effect possibly damaging
Transcript: ENSMUST00000102549
AA Change: V186E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099608
Gene: ENSMUSG00000028803
AA Change: V186E

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 33 333 5e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105856
AA Change: V186E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101482
Gene: ENSMUSG00000028803
AA Change: V186E

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:Mg_trans_NIPA 35 330 9.5e-75 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000140982
AA Change: V45E
SMART Domains Protein: ENSMUSP00000118178
Gene: ENSMUSG00000028803
AA Change: V45E

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 1 190 1.2e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000183807
AA Change: V186E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139088
Gene: ENSMUSG00000028803
AA Change: V186E

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 33 333 3.8e-75 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit gender-dependent behavioral and immune system abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot10 T A 15: 20,666,190 (GRCm39) M184L probably benign Het
Adgrv1 A T 13: 81,572,390 (GRCm39) S4924T probably benign Het
Atp10a T A 7: 58,463,548 (GRCm39) M1027K possibly damaging Het
Axl T A 7: 25,466,277 (GRCm39) K510I probably damaging Het
Azi2 T A 9: 117,876,628 (GRCm39) I48N probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Dnah3 T C 7: 119,668,927 (GRCm39) I720V probably benign Het
Dnah8 C T 17: 31,013,691 (GRCm39) P3811S probably damaging Het
Epas1 A G 17: 87,134,972 (GRCm39) D535G probably damaging Het
Fam47e A G 5: 92,713,827 (GRCm39) K152R probably damaging Het
Fbxl3 A T 14: 103,320,667 (GRCm39) I260K probably benign Het
Fcgr3 A G 1: 170,885,280 (GRCm39) V115A probably damaging Het
Fgf12 G T 16: 28,217,046 (GRCm39) D98E possibly damaging Het
Flt3 T C 5: 147,286,439 (GRCm39) T716A probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gpr141b A T 13: 19,913,519 (GRCm39) noncoding transcript Het
Grin2a A G 16: 9,579,769 (GRCm39) Y165H possibly damaging Het
Ifna4 T A 4: 88,760,599 (GRCm39) W168R probably damaging Het
Itga11 A G 9: 62,670,132 (GRCm39) Y752C probably damaging Het
Khdrbs3 A G 15: 68,896,547 (GRCm39) probably null Het
Kif24 A T 4: 41,423,463 (GRCm39) Y263N probably damaging Het
Lama5 G T 2: 179,843,624 (GRCm39) T441K probably damaging Het
Lrrc47 T A 4: 154,100,429 (GRCm39) V335D possibly damaging Het
Map1b A T 13: 99,566,589 (GRCm39) I2044N unknown Het
Mast2 C T 4: 116,172,035 (GRCm39) G638S probably damaging Het
Myo9a T C 9: 59,778,503 (GRCm39) S1420P probably benign Het
Neurl2 T C 2: 164,674,811 (GRCm39) T184A probably damaging Het
Nfatc3 A G 8: 106,822,944 (GRCm39) I577V probably benign Het
Pgbd5 G A 8: 125,111,205 (GRCm39) T162M probably damaging Het
Plod2 T A 9: 92,488,709 (GRCm39) probably null Het
Psg22 T A 7: 18,452,257 (GRCm39) L19Q probably damaging Het
Psg27 T A 7: 18,295,711 (GRCm39) N245Y probably damaging Het
Ptprc T A 1: 138,016,246 (GRCm39) I539F probably damaging Het
Rad1 T C 15: 10,488,143 (GRCm39) L59P probably damaging Het
Slc2a9 G A 5: 38,598,017 (GRCm39) R137W probably damaging Het
Spats2l C T 1: 57,985,321 (GRCm39) A458V probably damaging Het
Sptbn5 A G 2: 119,907,144 (GRCm39) probably benign Het
Stox1 C A 10: 62,500,627 (GRCm39) L644F probably damaging Het
Sv2b C T 7: 74,806,501 (GRCm39) G213E probably damaging Het
Tas2r121 T G 6: 132,677,254 (GRCm39) L239F probably damaging Het
Trrap T A 5: 144,731,603 (GRCm39) V854E probably damaging Het
Vmn2r97 A G 17: 19,168,035 (GRCm39) Y763C possibly damaging Het
Xkr6 T A 14: 63,844,360 (GRCm39) W128R probably damaging Het
Other mutations in Nipal3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:Nipal3 APN 4 135,195,904 (GRCm39) missense possibly damaging 0.90
IGL01338:Nipal3 APN 4 135,199,194 (GRCm39) critical splice donor site probably null
IGL02149:Nipal3 APN 4 135,194,163 (GRCm39) missense possibly damaging 0.67
IGL02160:Nipal3 APN 4 135,201,728 (GRCm39) nonsense probably null
IGL02560:Nipal3 APN 4 135,207,015 (GRCm39) missense probably damaging 1.00
IGL02826:Nipal3 APN 4 135,195,861 (GRCm39) nonsense probably null
IGL02868:Nipal3 APN 4 135,194,182 (GRCm39) missense probably damaging 1.00
R0189:Nipal3 UTSW 4 135,195,829 (GRCm39) missense possibly damaging 0.89
R0470:Nipal3 UTSW 4 135,174,683 (GRCm39) missense probably damaging 0.99
R0891:Nipal3 UTSW 4 135,195,898 (GRCm39) missense possibly damaging 0.91
R1633:Nipal3 UTSW 4 135,174,659 (GRCm39) missense probably benign 0.03
R1686:Nipal3 UTSW 4 135,174,599 (GRCm39) missense possibly damaging 0.49
R2921:Nipal3 UTSW 4 135,204,776 (GRCm39) missense probably damaging 1.00
R2923:Nipal3 UTSW 4 135,204,776 (GRCm39) missense probably damaging 1.00
R3732:Nipal3 UTSW 4 135,191,157 (GRCm39) missense probably damaging 1.00
R3732:Nipal3 UTSW 4 135,191,157 (GRCm39) missense probably damaging 1.00
R3733:Nipal3 UTSW 4 135,191,157 (GRCm39) missense probably damaging 1.00
R3734:Nipal3 UTSW 4 135,191,157 (GRCm39) missense probably damaging 1.00
R5057:Nipal3 UTSW 4 135,194,167 (GRCm39) missense probably damaging 1.00
R5616:Nipal3 UTSW 4 135,179,715 (GRCm39) missense probably benign 0.01
R5758:Nipal3 UTSW 4 135,179,874 (GRCm39) missense probably benign 0.02
R5779:Nipal3 UTSW 4 135,179,650 (GRCm39) intron probably benign
R6572:Nipal3 UTSW 4 135,174,564 (GRCm39) missense probably benign 0.02
R6981:Nipal3 UTSW 4 135,206,858 (GRCm39) missense probably damaging 1.00
R7194:Nipal3 UTSW 4 135,201,732 (GRCm39) missense probably benign 0.26
R7537:Nipal3 UTSW 4 135,218,248 (GRCm39) missense probably damaging 1.00
R8018:Nipal3 UTSW 4 135,174,659 (GRCm39) missense possibly damaging 0.63
R8098:Nipal3 UTSW 4 135,179,709 (GRCm39) missense possibly damaging 0.87
R8503:Nipal3 UTSW 4 135,206,892 (GRCm39) missense probably damaging 1.00
R9651:Nipal3 UTSW 4 135,174,634 (GRCm39) nonsense probably null
X0066:Nipal3 UTSW 4 135,174,566 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CTGGACACTTGTCTGTAGCC -3'
(R):5'- TTTTGTCTGCCCAAAACCGC -3'

Sequencing Primer
(F):5'- TCTGTAGCCAGAGCCTACAG -3'
(R):5'- TTCTGAGACCTAAGTTACCCAGG -3'
Posted On 2017-02-15