Incidental Mutation 'PIT4486001:Nipal2'
ID556127
Institutional Source Beutler Lab
Gene Symbol Nipal2
Ensembl Gene ENSMUSG00000038879
Gene NameNIPA-like domain containing 2
SynonymsNpal2, 9330161F08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #PIT4486001 (G1)
Quality Score225.009
Status Not validated
Chromosome15
Chromosomal Location34572799-34679212 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 34584729 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 231 (G231D)
Ref Sequence ENSEMBL: ENSMUSP00000038922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040791]
Predicted Effect probably damaging
Transcript: ENSMUST00000040791
AA Change: G231D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038922
Gene: ENSMUSG00000038879
AA Change: G231D

DomainStartEndE-ValueType
Pfam:Mg_trans_NIPA 45 332 1.5e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228679
Coding Region Coverage
  • 1x: 93.0%
  • 3x: 90.5%
  • 10x: 84.1%
  • 20x: 70.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T C 5: 145,044,104 S108P probably damaging Het
4930548H24Rik T A 5: 31,487,743 I280K probably damaging Het
4931408C20Rik G A 1: 26,685,329 P257S probably damaging Het
Abhd16b A T 2: 181,493,959 Q218L probably benign Het
Abhd3 T A 18: 10,645,233 I354F probably benign Het
Abt1 T C 13: 23,423,681 Y51C possibly damaging Het
Actl9 T A 17: 33,434,198 Y411N possibly damaging Het
Ano4 A G 10: 88,993,029 V516A probably damaging Het
Bptf A T 11: 107,054,788 S2542T probably damaging Het
Card11 C T 5: 140,876,408 V1045M probably damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 115,012,431 probably benign Het
Cdh3 A G 8: 106,541,490 K386E possibly damaging Het
Cks1b C A 3: 89,416,314 Q49H probably damaging Het
Clpb A T 7: 101,663,932 D41V probably benign Het
Cyp3a11 A T 5: 145,860,492 M359K probably damaging Het
Cyp3a13 A T 5: 137,909,966 I207N probably benign Het
Dennd4c T A 4: 86,799,464 L566* probably null Het
Dhtkd1 A T 2: 5,899,995 D859E probably benign Het
Efcab6 T C 15: 83,973,313 D295G probably benign Het
Fcgbp A G 7: 28,075,273 T91A possibly damaging Het
Gm11569 GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA GCA 11: 99,798,665 probably benign Het
Gm884 A T 11: 103,618,201 H980Q unknown Het
Gsdma3 A G 11: 98,638,054 K454E unknown Het
Herc1 T A 9: 66,372,389 I193N probably damaging Het
Kdm5b T A 1: 134,628,685 L1370Q probably damaging Het
Map4 T G 9: 110,072,614 V965G probably damaging Het
Mkrn2os T C 6: 115,585,483 D173G probably benign Het
Ndfip2 A G 14: 105,294,866 D232G probably damaging Het
Notch3 A T 17: 32,154,763 N490K probably damaging Het
Olfr150 T A 9: 39,737,239 C141* probably null Het
Olfr493 A G 7: 108,346,322 S220P possibly damaging Het
Prkar2a T C 9: 108,733,127 L185S probably damaging Het
Ptpn9 T G 9: 57,061,003 N542K probably damaging Het
Pus10 G A 11: 23,712,326 probably null Het
Pyroxd2 A G 19: 42,740,389 S191P probably benign Het
Rab15 T A 12: 76,801,942 K122* probably null Het
Rara A G 11: 98,973,495 N416S possibly damaging Het
Rims2 T C 15: 39,476,520 V870A possibly damaging Het
Sec16a T C 2: 26,425,773 T293A Het
Slc26a3 G A 12: 31,470,950 D718N probably benign Het
Slc44a5 G A 3: 154,259,022 V520I possibly damaging Het
Tgfb2 A T 1: 186,690,727 Y142N probably benign Het
Tgfbi A T 13: 56,629,794 I364F probably damaging Het
Tmem144 A C 3: 79,826,867 D176E probably benign Het
Tns4 A T 11: 99,071,335 L612Q probably damaging Het
Toe1 A G 4: 116,806,495 L76S probably damaging Het
Trank1 T C 9: 111,390,107 F1971L probably damaging Het
Tsen54 G T 11: 115,822,596 V481F probably damaging Het
Uimc1 A G 13: 55,075,568 L297P probably damaging Het
Wnt8a T C 18: 34,547,583 Y334H probably damaging Het
Zfp281 A G 1: 136,627,003 D573G possibly 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
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
R8135:Nipal2 UTSW 15 34678573 missense possibly damaging 0.90
R8234:Nipal2 UTSW 15 34600032 missense possibly damaging 0.93
X0065:Nipal2 UTSW 15 34609261 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTATTTTCTAAGCCAGTGCACAGAG -3'
(R):5'- ACCGGGTTCCATAGCAAACC -3'

Sequencing Primer
(F):5'- CCAGTGCACAGAGAATCACAGG -3'
(R):5'- CAGCAGAACTCTATGCGTGTG -3'
Posted On2019-06-07