Incidental Mutation 'IGL03057:Atp8b2'
ID409271
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp8b2
Ensembl Gene ENSMUSG00000060671
Gene NameATPase, class I, type 8B, member 2
SynonymsId
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.181) question?
Stock #IGL03057
Quality Score
Status
Chromosome3
Chromosomal Location89939481-89963508 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 89944186 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 901 (Y901N)
Ref Sequence ENSEMBL: ENSMUSP00000128423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069805] [ENSMUST00000107396] [ENSMUST00000166502] [ENSMUST00000168276] [ENSMUST00000170739]
Predicted Effect probably damaging
Transcript: ENSMUST00000069805
AA Change: Y920N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: Y920N

DomainStartEndE-ValueType
low complexity region 30 44 N/A INTRINSIC
low complexity region 80 96 N/A INTRINSIC
Pfam:E1-E2_ATPase 103 374 5.6e-18 PFAM
Pfam:HAD 408 842 1.3e-17 PFAM
Pfam:Hydrolase_like2 491 590 1e-11 PFAM
Pfam:Hydrolase 590 845 7.9e-8 PFAM
low complexity region 1133 1147 N/A INTRINSIC
low complexity region 1167 1190 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107396
AA Change: Y925N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: Y925N

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 15 81 1.3e-29 PFAM
Pfam:E1-E2_ATPase 81 351 2.7e-9 PFAM
Pfam:HAD 389 847 1.5e-17 PFAM
Pfam:Cation_ATPase 472 571 4.3e-12 PFAM
Pfam:PhoLip_ATPase_C 864 1118 2e-84 PFAM
low complexity region 1138 1152 N/A INTRINSIC
low complexity region 1172 1195 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166347
Predicted Effect probably benign
Transcript: ENSMUST00000166502
SMART Domains Protein: ENSMUSP00000132201
Gene: ENSMUSG00000060671

DomainStartEndE-ValueType
SCOP:d1eula_ 2 95 5e-7 SMART
low complexity region 100 109 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167257
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167442
Predicted Effect probably damaging
Transcript: ENSMUST00000168276
AA Change: Y901N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: Y901N

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
low complexity region 61 77 N/A INTRINSIC
Pfam:E1-E2_ATPase 84 355 2.5e-18 PFAM
Pfam:HAD 389 823 7.9e-18 PFAM
Pfam:Hydrolase_like2 472 571 3.6e-12 PFAM
Pfam:Hydrolase 571 826 6.5e-8 PFAM
low complexity region 1114 1128 N/A INTRINSIC
low complexity region 1148 1171 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170324
Predicted Effect probably benign
Transcript: ENSMUST00000170739
SMART Domains Protein: ENSMUSP00000127720
Gene: ENSMUSG00000060671

DomainStartEndE-ValueType
Pfam:Hydrolase_like2 1 82 1.4e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171818
Predicted Effect probably benign
Transcript: ENSMUST00000171941
SMART Domains Protein: ENSMUSP00000130545
Gene: ENSMUSG00000060671

DomainStartEndE-ValueType
Pfam:HAD 2 158 3.3e-8 PFAM
Pfam:Hydrolase_3 124 167 1.7e-6 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,668,391 A1295V possibly damaging Het
Adgre4 T C 17: 55,799,602 probably benign Het
Bud31 A G 5: 145,146,568 T74A probably benign Het
C4b C A 17: 34,737,764 probably benign Het
Ccdc92 G A 5: 124,835,689 Q259* probably null Het
Chfr C A 5: 110,143,609 Q98K probably benign Het
Ciita T A 16: 10,520,959 probably benign Het
Cnbd2 A T 2: 156,367,672 I512F possibly damaging Het
Cpa2 A G 6: 30,557,727 Y346C probably damaging Het
Cpxm1 A G 2: 130,393,189 L570P probably damaging Het
Cylc1 G A X: 111,122,601 G217D unknown Het
Dennd2a T C 6: 39,508,248 I366V probably damaging Het
Dis3 A T 14: 99,089,990 M359K possibly damaging Het
Dock10 T C 1: 80,567,371 N848S probably damaging Het
Dyrk3 C T 1: 131,129,078 V453I probably benign Het
Ercc5 A G 1: 44,167,001 E358G probably damaging Het
Fam167b C A 4: 129,578,167 C70F possibly damaging Het
Fam71a A T 1: 191,162,944 S501T probably benign Het
Flt1 G T 5: 147,681,924 Y200* probably null Het
Ggh T C 4: 20,065,770 V288A probably benign Het
Glb1l2 T C 9: 26,806,290 probably benign Het
Gm28042 A G 2: 120,032,156 Y302C probably damaging Het
Gsta2 A G 9: 78,333,910 probably benign Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Irs4 A G X: 141,722,528 S891P unknown Het
Kcmf1 G T 6: 72,843,027 R330S probably benign Het
Kif26a G T 12: 112,175,774 E821* probably null Het
L3mbtl1 A G 2: 162,967,383 E670G probably damaging Het
Met A T 6: 17,558,766 D1131V probably damaging Het
Neo1 T C 9: 58,878,059 E1428G probably damaging Het
Odf2 A G 2: 29,923,645 probably benign Het
Ogfod1 T A 8: 94,056,138 L294H possibly damaging Het
Olfr933 G T 9: 38,976,218 V181F probably benign Het
Pcdhb20 A T 18: 37,504,798 I126L possibly damaging Het
Pcdhb9 A T 18: 37,401,277 Q108L probably benign Het
Prdm10 G T 9: 31,349,185 R645L probably damaging Het
Psmb11 T A 14: 54,625,779 C151* probably null Het
Reep1 T A 6: 71,807,781 probably benign Het
Reg3a G A 6: 78,381,956 A46T possibly damaging Het
Rnf213 T A 11: 119,441,087 I2374N probably damaging Het
Slc17a7 T C 7: 45,170,939 Y273H probably damaging Het
Smg6 T A 11: 74,935,434 Y238* probably null Het
Sorcs1 T A 19: 50,259,756 K411* probably null Het
Spta1 G T 1: 174,181,058 A243S probably benign Het
Tas2r135 A T 6: 42,401,127 probably benign Het
Tbx18 T C 9: 87,730,829 R6G probably damaging Het
Timp3 A G 10: 86,300,951 D33G possibly damaging Het
Ttf1 A G 2: 29,071,345 K582E probably damaging Het
Ubr5 C A 15: 38,040,906 probably benign Het
Ugt2b1 A G 5: 86,926,341 V53A possibly damaging Het
Ush2a G T 1: 188,797,838 G3275W probably damaging Het
Usp19 G A 9: 108,499,130 V1023M probably benign Het
Usp26 T C X: 51,757,258 I47V possibly damaging Het
Vapa A G 17: 65,594,907 V76A probably damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vps13a T C 19: 16,668,694 N1993S probably damaging Het
Wdr59 G A 8: 111,476,118 R598C probably damaging Het
Wisp1 T C 15: 66,891,640 probably benign Het
Other mutations in Atp8b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02313:Atp8b2 APN 3 89949853 missense probably damaging 1.00
IGL02472:Atp8b2 APN 3 89954239 missense probably damaging 1.00
IGL02651:Atp8b2 APN 3 89954589 unclassified probably null
IGL03349:Atp8b2 APN 3 89957817 missense probably damaging 1.00
IGL03382:Atp8b2 APN 3 89948521 missense probably benign 0.00
R0550:Atp8b2 UTSW 3 89959061 splice site probably benign
R0784:Atp8b2 UTSW 3 89957073 missense probably damaging 0.99
R1249:Atp8b2 UTSW 3 89947804 missense possibly damaging 0.77
R1447:Atp8b2 UTSW 3 89944170 missense probably damaging 1.00
R1568:Atp8b2 UTSW 3 89949848 missense probably damaging 0.98
R1647:Atp8b2 UTSW 3 89941784 missense probably benign 0.30
R1736:Atp8b2 UTSW 3 89952694 missense probably damaging 0.98
R1907:Atp8b2 UTSW 3 89946276 missense probably benign 0.28
R2656:Atp8b2 UTSW 3 89941758 missense probably benign 0.05
R2888:Atp8b2 UTSW 3 89958293 missense probably damaging 1.00
R3706:Atp8b2 UTSW 3 89945152 missense probably damaging 0.99
R3708:Atp8b2 UTSW 3 89945152 missense probably damaging 0.99
R3740:Atp8b2 UTSW 3 89946031 missense probably benign
R3741:Atp8b2 UTSW 3 89946031 missense probably benign
R3742:Atp8b2 UTSW 3 89946031 missense probably benign
R3896:Atp8b2 UTSW 3 89957319 missense probably damaging 1.00
R3914:Atp8b2 UTSW 3 89954448 missense probably damaging 0.98
R4536:Atp8b2 UTSW 3 89941784 missense probably benign 0.30
R4770:Atp8b2 UTSW 3 89957067 missense probably damaging 0.97
R4859:Atp8b2 UTSW 3 89945980 missense probably benign
R4905:Atp8b2 UTSW 3 89949008 missense probably benign
R4925:Atp8b2 UTSW 3 89946623 critical splice donor site probably null
R4955:Atp8b2 UTSW 3 89952920 unclassified probably benign
R5433:Atp8b2 UTSW 3 89952909 unclassified probably benign
R5458:Atp8b2 UTSW 3 89946022 missense probably benign 0.00
R5517:Atp8b2 UTSW 3 89946031 missense probably benign
R5663:Atp8b2 UTSW 3 89941794 missense probably benign 0.19
R6056:Atp8b2 UTSW 3 89946221 missense possibly damaging 0.79
R6821:Atp8b2 UTSW 3 89948173 missense probably damaging 0.99
R7069:Atp8b2 UTSW 3 89954571 missense probably damaging 1.00
R7178:Atp8b2 UTSW 3 89943672 missense possibly damaging 0.88
R7533:Atp8b2 UTSW 3 89945524 missense
R7552:Atp8b2 UTSW 3 89946764 missense probably damaging 1.00
Z1088:Atp8b2 UTSW 3 89954568 missense probably damaging 1.00
Posted On2016-08-02