Incidental Mutation 'IGL02472:Atp8b2'
ID 294784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp8b2
Ensembl Gene ENSMUSG00000060671
Gene Name ATPase, class I, type 8B, member 2
Synonyms Id
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # IGL02472
Quality Score
Status
Chromosome 3
Chromosomal Location 89846795-89870645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89861546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 267 (T267I)
Ref Sequence ENSEMBL: ENSMUSP00000128423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069805] [ENSMUST00000107396] [ENSMUST00000168276] [ENSMUST00000171422] [ENSMUST00000168880] [ENSMUST00000170696]
AlphaFold P98199
Predicted Effect probably damaging
Transcript: ENSMUST00000069805
AA Change: T286I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: T286I

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: T267I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: T267I

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: ENSMUST00000163354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166705
Predicted Effect probably damaging
Transcript: ENSMUST00000168276
AA Change: T267I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: T267I

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: ENSMUST00000171818
Predicted Effect probably benign
Transcript: ENSMUST00000171422
SMART Domains Protein: ENSMUSP00000129641
Gene: ENSMUSG00000060671

DomainStartEndE-ValueType
low complexity region 30 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168880
SMART Domains Protein: ENSMUSP00000128726
Gene: ENSMUSG00000060671

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
transmembrane domain 72 94 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170696
SMART Domains Protein: ENSMUSP00000126142
Gene: ENSMUSG00000060671

DomainStartEndE-ValueType
Pfam:E1-E2_ATPase 1 128 4.8e-9 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,834,578 (GRCm39) N158S probably damaging Het
Ankrd17 A C 5: 90,412,010 (GRCm39) L1285V probably damaging Het
Becn1 C T 11: 101,182,224 (GRCm39) G115D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A C 2: 160,826,372 (GRCm39) probably benign Het
Col22a1 A G 15: 71,699,602 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnm2 A G 9: 21,397,004 (GRCm39) I494V possibly damaging Het
Dock2 T A 11: 34,199,801 (GRCm39) E1416D probably benign Het
Eif2ak1 A G 5: 143,821,701 (GRCm39) H339R probably benign Het
Espnl C T 1: 91,268,256 (GRCm39) P294L probably benign Het
Ftmt T A 18: 52,464,912 (GRCm39) I76N possibly damaging Het
Gorasp2 T G 2: 70,506,803 (GRCm39) probably benign Het
Hadhb T A 5: 30,389,061 (GRCm39) M468K possibly damaging Het
Hfm1 A G 5: 107,021,794 (GRCm39) probably benign Het
Inpp5j T C 11: 3,445,338 (GRCm39) probably benign Het
Ipo7 T A 7: 109,640,060 (GRCm39) F288I probably damaging Het
Kcnv1 T A 15: 44,972,519 (GRCm39) K455* probably null Het
Kdm5a A G 6: 120,383,691 (GRCm39) probably benign Het
Kmt2d G A 15: 98,747,958 (GRCm39) S3122F probably benign Het
Kndc1 A G 7: 139,490,817 (GRCm39) I440V probably benign Het
Mib2 T A 4: 155,741,203 (GRCm39) I545F probably damaging Het
Nav2 C T 7: 49,195,789 (GRCm39) P1055L probably damaging Het
Or4c10b T A 2: 89,711,755 (GRCm39) I195N probably benign Het
Or5v1b C A 17: 37,841,640 (GRCm39) F257L probably damaging Het
Plch1 A T 3: 63,609,270 (GRCm39) L65Q probably damaging Het
Polr1g T C 7: 19,093,030 (GRCm39) D50G probably damaging Het
Ppp3ca A G 3: 136,627,623 (GRCm39) I396V possibly damaging Het
Ryr1 A T 7: 28,740,269 (GRCm39) N3917K probably damaging Het
Scn7a T C 2: 66,582,658 (GRCm39) T80A probably damaging Het
Sema3f C T 9: 107,564,935 (GRCm39) E307K probably damaging Het
Serpinb9b A T 13: 33,223,953 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,832 (GRCm39) K342N possibly damaging Het
Slc2a12 T C 10: 22,541,054 (GRCm39) F303S probably damaging Het
Slc9c1 T C 16: 45,400,505 (GRCm39) V705A probably benign Het
Tenm4 T C 7: 96,423,383 (GRCm39) probably benign Het
Tm6sf1 A T 7: 81,525,572 (GRCm39) probably benign Het
Tmem245 T C 4: 56,899,119 (GRCm39) Y269C probably damaging Het
Txndc2 A G 17: 65,944,971 (GRCm39) I402T possibly damaging Het
Ube4b A G 4: 149,471,536 (GRCm39) probably null Het
Usp28 T A 9: 48,949,069 (GRCm39) Y863N possibly damaging Het
Vmn2r69 T C 7: 85,058,960 (GRCm39) I534V probably benign Het
Wdr89 A T 12: 75,679,743 (GRCm39) D170E probably damaging Het
Zfp280d C A 9: 72,208,993 (GRCm39) N74K probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Atp8b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02313:Atp8b2 APN 3 89,857,160 (GRCm39) missense probably damaging 1.00
IGL02651:Atp8b2 APN 3 89,861,896 (GRCm39) splice site probably null
IGL03057:Atp8b2 APN 3 89,851,493 (GRCm39) missense probably damaging 1.00
IGL03349:Atp8b2 APN 3 89,865,124 (GRCm39) missense probably damaging 1.00
IGL03382:Atp8b2 APN 3 89,855,828 (GRCm39) missense probably benign 0.00
R0550:Atp8b2 UTSW 3 89,866,368 (GRCm39) splice site probably benign
R0784:Atp8b2 UTSW 3 89,864,380 (GRCm39) missense probably damaging 0.99
R1249:Atp8b2 UTSW 3 89,855,111 (GRCm39) missense possibly damaging 0.77
R1447:Atp8b2 UTSW 3 89,851,477 (GRCm39) missense probably damaging 1.00
R1568:Atp8b2 UTSW 3 89,857,155 (GRCm39) missense probably damaging 0.98
R1647:Atp8b2 UTSW 3 89,849,091 (GRCm39) missense probably benign 0.30
R1736:Atp8b2 UTSW 3 89,860,001 (GRCm39) missense probably damaging 0.98
R1907:Atp8b2 UTSW 3 89,853,583 (GRCm39) missense probably benign 0.28
R2656:Atp8b2 UTSW 3 89,849,065 (GRCm39) missense probably benign 0.05
R2888:Atp8b2 UTSW 3 89,865,600 (GRCm39) missense probably damaging 1.00
R3706:Atp8b2 UTSW 3 89,852,459 (GRCm39) missense probably damaging 0.99
R3708:Atp8b2 UTSW 3 89,852,459 (GRCm39) missense probably damaging 0.99
R3740:Atp8b2 UTSW 3 89,853,338 (GRCm39) missense probably benign
R3741:Atp8b2 UTSW 3 89,853,338 (GRCm39) missense probably benign
R3742:Atp8b2 UTSW 3 89,853,338 (GRCm39) missense probably benign
R3896:Atp8b2 UTSW 3 89,864,626 (GRCm39) missense probably damaging 1.00
R3914:Atp8b2 UTSW 3 89,861,755 (GRCm39) missense probably damaging 0.98
R4536:Atp8b2 UTSW 3 89,849,091 (GRCm39) missense probably benign 0.30
R4770:Atp8b2 UTSW 3 89,864,374 (GRCm39) missense probably damaging 0.97
R4859:Atp8b2 UTSW 3 89,853,287 (GRCm39) missense probably benign
R4905:Atp8b2 UTSW 3 89,856,315 (GRCm39) missense probably benign
R4925:Atp8b2 UTSW 3 89,853,930 (GRCm39) critical splice donor site probably null
R4955:Atp8b2 UTSW 3 89,860,227 (GRCm39) unclassified probably benign
R5433:Atp8b2 UTSW 3 89,860,216 (GRCm39) unclassified probably benign
R5458:Atp8b2 UTSW 3 89,853,329 (GRCm39) missense probably benign 0.00
R5517:Atp8b2 UTSW 3 89,853,338 (GRCm39) missense probably benign
R5663:Atp8b2 UTSW 3 89,849,101 (GRCm39) missense probably benign 0.19
R6056:Atp8b2 UTSW 3 89,853,528 (GRCm39) missense possibly damaging 0.79
R6821:Atp8b2 UTSW 3 89,855,480 (GRCm39) missense probably damaging 0.99
R7069:Atp8b2 UTSW 3 89,861,878 (GRCm39) missense probably damaging 1.00
R7178:Atp8b2 UTSW 3 89,850,979 (GRCm39) missense possibly damaging 0.88
R7533:Atp8b2 UTSW 3 89,852,831 (GRCm39) missense
R7552:Atp8b2 UTSW 3 89,854,071 (GRCm39) missense probably damaging 1.00
R8061:Atp8b2 UTSW 3 89,853,527 (GRCm39) unclassified probably benign
R8491:Atp8b2 UTSW 3 89,865,676 (GRCm39) missense probably damaging 1.00
R8827:Atp8b2 UTSW 3 89,853,307 (GRCm39) missense
R8913:Atp8b2 UTSW 3 89,852,830 (GRCm39) missense
R8996:Atp8b2 UTSW 3 89,850,696 (GRCm39) missense probably damaging 1.00
R9154:Atp8b2 UTSW 3 89,865,927 (GRCm39) missense possibly damaging 0.52
R9341:Atp8b2 UTSW 3 89,855,811 (GRCm39) missense possibly damaging 0.95
R9343:Atp8b2 UTSW 3 89,855,811 (GRCm39) missense possibly damaging 0.95
R9439:Atp8b2 UTSW 3 89,851,492 (GRCm39) missense
R9466:Atp8b2 UTSW 3 89,851,484 (GRCm39) missense probably benign 0.33
R9590:Atp8b2 UTSW 3 89,865,693 (GRCm39) nonsense probably null
R9651:Atp8b2 UTSW 3 89,865,603 (GRCm39) missense probably damaging 1.00
R9739:Atp8b2 UTSW 3 89,853,403 (GRCm39) missense probably benign
R9778:Atp8b2 UTSW 3 89,861,865 (GRCm39) missense possibly damaging 0.95
Z1088:Atp8b2 UTSW 3 89,861,875 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16