Incidental Mutation 'R8135:Nipal2'
ID632230
Institutional Source Beutler Lab
Gene Symbol Nipal2
Ensembl Gene ENSMUSG00000038879
Gene NameNIPA-like domain containing 2
SynonymsNpal2, 9330161F08Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #R8135 (G1)
Quality Score199.009
Status Not validated
Chromosome15
Chromosomal Location34572799-34679212 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 34678573 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 41 (Y41N)
Ref Sequence ENSEMBL: ENSMUSP00000038922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040791] [ENSMUST00000228073]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040791
AA Change: Y41N

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038922
Gene: ENSMUSG00000038879
AA Change: Y41N

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 45 332 1.5e-121 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000228073
AA Change: Y41N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.7%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 A G 1: 78,696,995 I420V probably benign Het
Adam7 A T 14: 68,516,573 M359K probably damaging Het
Adra1d C T 2: 131,561,772 A133T probably damaging Het
B3galnt2 T A 13: 13,970,869 probably null Het
Camk1g A G 1: 193,354,027 V175A possibly damaging Het
Cfi A G 3: 129,855,000 N178D probably benign Het
Csf2rb T A 15: 78,348,119 I542K possibly damaging Het
Ctsz T C 2: 174,429,153 T183A probably benign Het
Dhx8 A G 11: 101,738,264 D213G unknown Het
Dph7 T C 2: 24,969,544 I271T probably benign Het
Edem1 G T 6: 108,829,061 E108* probably null Het
Enpp4 T C 17: 44,101,335 T328A probably benign Het
Fasl A G 1: 161,787,128 V122A probably benign Het
Fut2 T C 7: 45,651,142 T69A probably damaging Het
Gaa T C 11: 119,278,384 probably null Het
Galnt5 T A 2: 58,014,868 V481D probably damaging Het
Gsdma2 A G 11: 98,652,046 I211V probably benign Het
H2-M10.4 T C 17: 36,461,770 T107A probably benign Het
Iqcg T A 16: 33,029,024 K297N probably benign Het
Map2 A G 1: 66,413,669 T573A probably damaging Het
Nhsl1 A G 10: 18,531,432 D1438G probably damaging Het
Obscn A T 11: 59,031,877 S5878T possibly damaging Het
Pde6a T C 18: 61,285,925 F791L probably damaging Het
Phip A T 9: 82,930,374 N308K probably benign Het
Pigc A G 1: 161,970,565 K39E possibly damaging Het
Robo2 T G 16: 73,933,160 I1050L probably benign Het
Rps2 A G 17: 24,720,435 K54E probably benign Het
Set T A 2: 30,069,427 D137E probably benign Het
Sipa1l1 A G 12: 82,341,301 I100M probably benign Het
Spdye4b T C 5: 143,195,022 V81A probably damaging Het
Tbc1d2 T C 4: 46,609,071 D722G probably benign Het
Tecpr1 T A 5: 144,198,602 D1011V probably damaging Het
Unc80 A T 1: 66,509,287 I573F possibly damaging Het
Vmn1r74 T A 7: 11,847,603 C277S probably benign Het
Vwa1 T A 4: 155,772,894 D149V probably damaging Het
Zfp397 T A 18: 23,956,507 V23E probably damaging Het
Zmynd8 T C 2: 165,812,426 D722G probably damaging Het
Other mutations in Nipal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00657:Nipal2 APN 15 34600078 missense probably damaging 1.00
IGL01555:Nipal2 APN 15 34600118 splice site probably benign
IGL02882:Nipal2 APN 15 34600077 missense probably damaging 1.00
IGL03230:Nipal2 APN 15 34575556 missense probably damaging 0.97
PIT4486001:Nipal2 UTSW 15 34584729 missense probably damaging 0.99
R0603:Nipal2 UTSW 15 34650398 missense probably damaging 0.97
R1255:Nipal2 UTSW 15 34584682 missense probably benign 0.30
R1530:Nipal2 UTSW 15 34625022 makesense probably null
R1673:Nipal2 UTSW 15 34648695 missense probably damaging 0.99
R1857:Nipal2 UTSW 15 34678633 missense possibly damaging 0.93
R1888:Nipal2 UTSW 15 34625021 missense possibly damaging 0.49
R1888:Nipal2 UTSW 15 34625021 missense possibly damaging 0.49
R3825:Nipal2 UTSW 15 34578706 critical splice donor site probably null
R4016:Nipal2 UTSW 15 34600061 missense possibly damaging 0.91
R4656:Nipal2 UTSW 15 34577568 critical splice donor site probably null
R6159:Nipal2 UTSW 15 34600026 missense probably damaging 1.00
R7082:Nipal2 UTSW 15 34584663 missense possibly damaging 0.95
R7263:Nipal2 UTSW 15 34578758 nonsense probably null
R8234:Nipal2 UTSW 15 34600032 missense possibly damaging 0.93
R8525:Nipal2 UTSW 15 34584669 missense probably damaging 0.99
X0065:Nipal2 UTSW 15 34609261 nonsense probably null
Predicted Primers PCR Primer
(F):5'- GATGGGTAGCCAAGTGTCAG -3'
(R):5'- GATGTCATTCCTGCGCTGACAG -3'

Sequencing Primer
(F):5'- TAGCCAAGTGTCAGCGTCAC -3'
(R):5'- ATTCCTGCGCTGACAGGTGTAG -3'
Posted On2020-06-30