Incidental Mutation 'R7459:Nipa2'
ID 578314
Institutional Source Beutler Lab
Gene Symbol Nipa2
Ensembl Gene ENSMUSG00000030452
Gene Name non imprinted in Prader-Willi/Angelman syndrome 2 homolog (human)
Synonyms 3830408P04Rik, 2600017P10Rik
MMRRC Submission 045533-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # R7459 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 55581035-55612224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55583089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 219 (W219R)
Ref Sequence ENSEMBL: ENSMUSP00000032635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032629] [ENSMUST00000032635] [ENSMUST00000085255] [ENSMUST00000117812] [ENSMUST00000119041] [ENSMUST00000119201] [ENSMUST00000126604] [ENSMUST00000152649] [ENSMUST00000163845]
AlphaFold Q9JJC8
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 damaging
Transcript: ENSMUST00000032635
AA Change: W219R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032635
Gene: ENSMUSG00000030452
AA Change: W219R

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 damaging
Transcript: ENSMUST00000117812
AA Change: W219R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113727
Gene: ENSMUSG00000030452
AA Change: W219R

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 8 302 1.4e-151 PFAM
Pfam:EamA 47 128 4.3e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119041
AA Change: W219R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112394
Gene: ENSMUSG00000030452
AA Change: W219R

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 damaging
Transcript: ENSMUST00000119201
AA Change: W219R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114020
Gene: ENSMUSG00000030452
AA Change: W219R

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,756,933 (GRCm39) V730E probably damaging Het
Agbl1 G A 7: 76,069,814 (GRCm39) D449N not run Het
Agr2 A T 12: 36,047,452 (GRCm39) E96V probably benign Het
Atp1a2 A C 1: 172,114,862 (GRCm39) S308A probably benign Het
Birc7 T C 2: 180,571,150 (GRCm39) S71P possibly damaging Het
Brme1 T G 8: 84,893,981 (GRCm39) S383A probably benign Het
Camk2g T C 14: 20,829,275 (GRCm39) I73V probably damaging Het
Carf C A 1: 60,167,198 (GRCm39) T177K possibly damaging Het
Ccdc191 C T 16: 43,767,820 (GRCm39) Q665* probably null Het
Cd79a A T 7: 24,598,567 (GRCm39) T39S possibly damaging Het
Ces5a C A 8: 94,262,369 (GRCm39) probably benign Het
Dkk2 C A 3: 131,880,790 (GRCm39) T145N probably benign Het
Dot1l C T 10: 80,609,007 (GRCm39) A188V probably damaging Het
Egfr T A 11: 16,846,967 (GRCm39) V788D probably damaging Het
Esyt3 T A 9: 99,240,117 (GRCm39) H109L probably benign Het
Fam234b C T 6: 135,188,899 (GRCm39) T168I probably benign Het
Fan1 G T 7: 63,998,714 (GRCm39) S936Y probably damaging Het
Fat2 T C 11: 55,194,745 (GRCm39) E1098G probably damaging Het
Fcgbp A G 7: 27,806,710 (GRCm39) D2226G possibly damaging Het
Flacc1 T G 1: 58,730,911 (GRCm39) E48D possibly damaging Het
Flvcr2 T C 12: 85,793,831 (GRCm39) V69A probably benign Het
Foxb2 T A 19: 16,850,436 (GRCm39) H190L unknown Het
Fut4 C T 9: 14,662,602 (GRCm39) V231M possibly damaging Het
Gtf2a1 G A 12: 91,542,426 (GRCm39) A91V probably benign Het
Hip1 A G 5: 135,443,151 (GRCm39) S961P probably damaging Het
Hsf2bp C T 17: 32,165,708 (GRCm39) V296M probably benign Het
Hspbp1 G T 7: 4,687,577 (GRCm39) H11Q probably benign Het
Ighv1-84 C T 12: 115,944,432 (GRCm39) E81K probably benign Het
Isg20l2 T C 3: 87,839,485 (GRCm39) L232P possibly damaging Het
Isx A G 8: 75,619,392 (GRCm39) Y181C probably benign Het
Kif9 A G 9: 110,348,109 (GRCm39) Y644C probably damaging Het
Lin7c T A 2: 109,727,682 (GRCm39) V177D probably benign Het
Lpin3 T C 2: 160,739,220 (GRCm39) S343P probably benign Het
Mat1a A T 14: 40,842,141 (GRCm39) Q246L probably benign Het
Mlkl T C 8: 112,060,162 (GRCm39) I75V probably benign Het
Ndufa7 T A 17: 34,057,140 (GRCm39) S107T probably damaging Het
Niban3 T A 8: 72,057,671 (GRCm39) C516S possibly damaging Het
Nip7 T A 8: 107,783,968 (GRCm39) C69* probably null Het
Oas2 A C 5: 120,887,775 (GRCm39) S22A unknown Het
Obscn A G 11: 59,022,483 (GRCm39) V754A probably benign Het
Or4a76 G A 2: 89,461,012 (GRCm39) P77S probably damaging Het
Osbpl1a C T 18: 13,066,642 (GRCm39) C39Y probably damaging Het
Pcdhb16 A T 18: 37,612,606 (GRCm39) Y522F probably benign Het
Pced1a T G 2: 130,261,744 (GRCm39) D303A possibly damaging Het
Peli1 T A 11: 21,098,190 (GRCm39) Y308* probably null Het
Pfas T A 11: 68,879,481 (GRCm39) R243W Het
Pik3r5 C A 11: 68,383,416 (GRCm39) Q412K probably benign Het
Pkd1l1 A T 11: 8,852,428 (GRCm39) I1135N Het
Prune1 C A 3: 95,189,021 (GRCm39) probably benign Het
Ptpn4 T A 1: 119,587,564 (GRCm39) K926N probably damaging Het
Ptpre A G 7: 135,269,329 (GRCm39) N277S probably benign Het
Raver2 A T 4: 100,964,410 (GRCm39) D255V possibly damaging Het
Rgs20 A G 1: 4,980,857 (GRCm39) V187A probably benign Het
Rgs3 A G 4: 62,543,391 (GRCm39) E242G probably benign Het
Rims2 T G 15: 39,381,235 (GRCm39) S1055R probably benign Het
Rnf146 T C 10: 29,223,640 (GRCm39) D82G probably benign Het
Rpgrip1 A G 14: 52,378,016 (GRCm39) S455G probably benign Het
Samm50 T C 15: 84,080,057 (GRCm39) probably null Het
Sh3bgr A G 16: 96,007,122 (GRCm39) K31E probably benign Het
Slc39a8 T C 3: 135,592,672 (GRCm39) I449T probably damaging Het
Slc5a3 A T 16: 91,875,905 (GRCm39) Y654F probably benign Het
Spata1 T A 3: 146,181,977 (GRCm39) L264F possibly damaging Het
Spats2l A T 1: 57,838,512 (GRCm39) probably benign Het
Stard13 A C 5: 150,971,064 (GRCm39) S848A probably damaging Het
Stat2 A G 10: 128,112,434 (GRCm39) S25G possibly damaging Het
Tet2 C T 3: 133,186,050 (GRCm39) R1129Q possibly damaging Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tmem266 T C 9: 55,303,883 (GRCm39) L3P unknown Het
Tns3 A T 11: 8,442,793 (GRCm39) D523E probably benign Het
Trim3 A T 7: 105,267,015 (GRCm39) S455T probably damaging Het
Trim31 T C 17: 37,220,554 (GRCm39) V490A probably damaging Het
Trmt11 A C 10: 30,466,039 (GRCm39) N168K probably benign Het
Trpc4 G A 3: 54,198,653 (GRCm39) V526M probably damaging Het
Ttn C A 2: 76,749,482 (GRCm39) D3856Y possibly damaging Het
Tulp2 G A 7: 45,169,227 (GRCm39) D377N probably damaging Het
Ubl7 A G 9: 57,821,875 (GRCm39) T75A probably damaging Het
Ugt2b34 T G 5: 87,049,134 (GRCm39) D297A possibly damaging Het
Usp34 A T 11: 23,314,458 (GRCm39) H800L possibly damaging Het
Utp3 C A 5: 88,703,412 (GRCm39) L314M probably damaging Het
Zer1 A G 2: 30,003,337 (GRCm39) Y27H probably damaging Het
Other mutations in Nipa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Nipa2 APN 7 55,583,193 (GRCm39) missense probably damaging 1.00
IGL01965:Nipa2 APN 7 55,594,371 (GRCm39) start gained probably benign
IGL02373:Nipa2 APN 7 55,582,876 (GRCm39) missense probably benign 0.01
IGL02812:Nipa2 APN 7 55,592,766 (GRCm39) missense probably damaging 1.00
IGL03079:Nipa2 APN 7 55,583,205 (GRCm39) missense probably damaging 1.00
IGL03188:Nipa2 APN 7 55,582,680 (GRCm39) missense probably benign
R1327:Nipa2 UTSW 7 55,594,256 (GRCm39) missense possibly damaging 0.81
R2356:Nipa2 UTSW 7 55,582,714 (GRCm39) missense probably benign 0.00
R3758:Nipa2 UTSW 7 55,585,689 (GRCm39) missense probably damaging 1.00
R3870:Nipa2 UTSW 7 55,582,690 (GRCm39) missense probably damaging 1.00
R4684:Nipa2 UTSW 7 55,585,574 (GRCm39) missense probably benign
R4775:Nipa2 UTSW 7 55,585,611 (GRCm39) missense probably benign 0.19
R5285:Nipa2 UTSW 7 55,582,760 (GRCm39) nonsense probably null
R6453:Nipa2 UTSW 7 55,585,569 (GRCm39) missense probably damaging 0.98
R6880:Nipa2 UTSW 7 55,582,999 (GRCm39) missense probably damaging 0.99
R8312:Nipa2 UTSW 7 55,583,050 (GRCm39) nonsense probably null
R8835:Nipa2 UTSW 7 55,583,307 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TGTGAAGAAGCCACTCAAAGTCC -3'
(R):5'- AACATTTGTGGTCATTGTGGCC -3'

Sequencing Primer
(F):5'- GTCCCAATGACATCATCAACAGG -3'
(R):5'- GTCATTGTGGCCTTGATATTCATC -3'
Posted On 2019-10-07