Incidental Mutation 'R2656:Atp8b2'
ID 252719
Institutional Source Beutler Lab
Gene Symbol Atp8b2
Ensembl Gene ENSMUSG00000060671
Gene Name ATPase, class I, type 8B, member 2
Synonyms Id
MMRRC Submission 040431-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R2656 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89846795-89870645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89849065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 1090 (A1090T)
Ref Sequence ENSEMBL: ENSMUSP00000063384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069805] [ENSMUST00000107396] [ENSMUST00000166502] [ENSMUST00000168276] [ENSMUST00000170739]
AlphaFold P98199
Predicted Effect probably benign
Transcript: ENSMUST00000069805
AA Change: A1090T

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: A1090T

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 benign
Transcript: ENSMUST00000107396
AA Change: A1095T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: A1095T

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 probably benign
Transcript: ENSMUST00000168276
AA Change: A1071T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: A1071T

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: ENSMUST00000167442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167257
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 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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A G 5: 8,167,696 (GRCm39) C655R probably damaging Het
Adgrf3 A T 5: 30,401,436 (GRCm39) V864D possibly damaging Het
Angptl3 A G 4: 98,926,201 (GRCm39) I444V probably benign Het
Bcl2l2 C T 14: 55,122,889 (GRCm39) R47C probably benign Het
Ces2a G A 8: 105,462,766 (GRCm39) M118I probably benign Het
Cyp4a29 T G 4: 115,106,921 (GRCm39) L193V possibly damaging Het
Dpp8 A G 9: 64,988,086 (GRCm39) Y877C probably damaging Het
Enpp6 C T 8: 47,535,453 (GRCm39) R33* probably null Het
Fsip2 G A 2: 82,809,389 (GRCm39) D1903N possibly damaging Het
Ggt1 T A 10: 75,417,219 (GRCm39) Y5* probably null Het
Gm14412 A T 2: 177,006,993 (GRCm39) C301S unknown Het
Gpatch2l T A 12: 86,335,584 (GRCm39) D428E probably damaging Het
Grin2b C T 6: 135,710,427 (GRCm39) G1040S probably damaging Het
Has2 T C 15: 56,545,224 (GRCm39) D126G possibly damaging Het
Itgam T G 7: 127,715,987 (GRCm39) L1120R probably null Het
Kank4 T C 4: 98,667,194 (GRCm39) N418D probably damaging Het
Kcnk3 T C 5: 30,780,015 (GRCm39) V355A possibly damaging Het
Lonrf2 C T 1: 38,855,041 (GRCm39) probably null Het
Lrp1b A T 2: 41,401,593 (GRCm39) C240S probably damaging Het
Mapk8ip3 T G 17: 25,131,781 (GRCm39) E386A probably damaging Het
Mtmr14 A G 6: 113,217,327 (GRCm39) I80V probably benign Het
Nav2 A C 7: 49,195,690 (GRCm39) D961A probably damaging Het
Nmt2 A G 2: 3,308,050 (GRCm39) D107G probably benign Het
Nsd1 A G 13: 55,394,681 (GRCm39) K761E probably damaging Het
Ogdh A G 11: 6,298,678 (GRCm39) T641A probably benign Het
Ogdhl T G 14: 32,054,783 (GRCm39) F244V possibly damaging Het
Or2ag17 T A 7: 106,389,720 (GRCm39) T163S probably damaging Het
Or51k1 G A 7: 103,661,072 (GRCm39) S279L probably damaging Het
Or5b102 A T 19: 13,041,348 (GRCm39) H191L probably benign Het
Or5b97 A G 19: 12,879,030 (GRCm39) I38T probably benign Het
Pfpl T C 19: 12,407,600 (GRCm39) I617T probably benign Het
Ppfia2 T G 10: 106,701,268 (GRCm39) probably null Het
Prickle1 T C 15: 93,401,251 (GRCm39) E411G probably benign Het
Prpsap2 C A 11: 61,621,051 (GRCm39) M343I probably benign Het
Prpsap2 A G 11: 61,643,717 (GRCm39) V72A probably benign Het
Ranbp17 A T 11: 33,193,122 (GRCm39) D977E probably benign Het
Rin1 T C 19: 5,102,204 (GRCm39) S238P probably damaging Het
Scap C T 9: 110,203,087 (GRCm39) R254W probably damaging Het
Scn3a T C 2: 65,356,862 (GRCm39) D194G probably damaging Het
Shisa7 T C 7: 4,832,818 (GRCm39) H481R possibly damaging Het
Slc6a6 T C 6: 91,718,029 (GRCm39) Y323H probably damaging Het
Thoc2l A G 5: 104,667,181 (GRCm39) I568V probably benign Het
Tlr9 T C 9: 106,101,140 (GRCm39) S144P probably benign Het
Tmem69 T A 4: 116,410,787 (GRCm39) K61M probably damaging Het
Ttc21a A G 9: 119,770,331 (GRCm39) D134G probably damaging Het
Ttn A G 2: 76,724,614 (GRCm39) probably benign Het
Vwf A G 6: 125,532,324 (GRCm39) T26A probably benign Het
Zbtb16 A T 9: 48,743,988 (GRCm39) I108N probably damaging Het
Zc3h7b T A 15: 81,664,631 (GRCm39) Y497N probably damaging Het
Zfp652 A G 11: 95,640,155 (GRCm39) S27G probably damaging Het
Zfp808 A G 13: 62,320,666 (GRCm39) T632A possibly damaging Het
Znhit6 T C 3: 145,283,924 (GRCm39) probably null Het
Other mutations in Atp8b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02313:Atp8b2 APN 3 89,857,160 (GRCm39) missense probably damaging 1.00
IGL02472:Atp8b2 APN 3 89,861,546 (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
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
Predicted Primers PCR Primer
(F):5'- GAACTTCTGTAGCCAGGTGCAG -3'
(R):5'- CATTTGAGTGGCAGACAGACAG -3'

Sequencing Primer
(F):5'- TAGCCAGGTGCAGCACGTG -3'
(R):5'- CAGACAGAAGTTGAGGGTGTGTG -3'
Posted On 2014-12-04