Incidental Mutation 'R1736:Atp8b2'
ID 199701
Institutional Source Beutler Lab
Gene Symbol Atp8b2
Ensembl Gene ENSMUSG00000060671
Gene Name ATPase, class I, type 8B, member 2
Synonyms Id
MMRRC Submission 039768-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R1736 (G1)
Quality Score 200
Status Validated
Chromosome 3
Chromosomal Location 89846795-89870645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89860001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 339 (P339S)
Ref Sequence ENSEMBL: ENSMUSP00000128423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069805] [ENSMUST00000107396] [ENSMUST00000168276] [ENSMUST00000170696] [ENSMUST00000170739]
AlphaFold P98199
Predicted Effect possibly damaging
Transcript: ENSMUST00000069805
AA Change: P358S

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: P358S

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: P339S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: P339S

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 noncoding transcript
Transcript: ENSMUST00000167257
Predicted Effect probably damaging
Transcript: ENSMUST00000168276
AA Change: P339S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: P339S

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: ENSMUST00000170696
SMART Domains Protein: ENSMUSP00000126142
Gene: ENSMUSG00000060671

DomainStartEndE-ValueType
Pfam:E1-E2_ATPase 1 128 4.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170739
SMART Domains Protein: ENSMUSP00000127720
Gene: ENSMUSG00000060671

DomainStartEndE-ValueType
Pfam:Hydrolase_like2 1 82 1.4e-7 PFAM
Meta Mutation Damage Score 0.8418 question?
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency 97% (57/59)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adcy3 A G 12: 4,250,998 (GRCm39) N586D possibly damaging Het
Ak6 T A 13: 100,791,689 (GRCm39) probably null Het
Ankrd66 T C 17: 43,854,409 (GRCm39) D41G probably benign Het
Cacna1d C T 14: 29,811,820 (GRCm39) V1297I probably damaging Het
Cbl A T 9: 44,064,192 (GRCm39) D781E possibly damaging Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Clint1 A G 11: 45,797,004 (GRCm39) probably null Het
Col6a3 A G 1: 90,706,781 (GRCm39) Y2111H unknown Het
Csnk1g1 A G 9: 65,927,197 (GRCm39) probably null Het
Dse A T 10: 34,029,145 (GRCm39) N648K probably damaging Het
Dsp A G 13: 38,376,966 (GRCm39) K1584E probably benign Het
Ezh2 A T 6: 47,553,594 (GRCm39) M41K probably damaging Het
Fscn2 G A 11: 120,258,852 (GRCm39) G466S probably damaging Het
Garin5b A G 7: 4,761,153 (GRCm39) S520P probably damaging Het
Gm15217 A G 14: 46,620,663 (GRCm39) probably benign Het
Gm9696 T C 3: 59,879,696 (GRCm39) noncoding transcript Het
Gosr2 G A 11: 103,570,076 (GRCm39) Q162* probably null Het
Hectd4 T A 5: 121,487,593 (GRCm39) H3529Q possibly damaging Het
Klf7 C A 1: 64,118,372 (GRCm39) R75L possibly damaging Het
Kmt2c A T 5: 25,495,525 (GRCm39) I4074K probably damaging Het
Ly6g2 G A 15: 75,089,569 (GRCm39) G26R probably damaging Het
Map3k11 A G 19: 5,747,429 (GRCm39) D555G probably benign Het
Mindy2 A G 9: 70,538,312 (GRCm39) I341T probably damaging Het
Mrnip G A 11: 50,067,718 (GRCm39) probably null Het
Muc5b G A 7: 141,412,844 (GRCm39) C1930Y unknown Het
Nfatc3 T G 8: 106,805,482 (GRCm39) I109S probably damaging Het
Npas1 G T 7: 16,208,541 (GRCm39) A112D probably benign Het
Npffr2 T A 5: 89,715,925 (GRCm39) I84N probably damaging Het
Nxph4 T A 10: 127,362,465 (GRCm39) H142L probably damaging Het
Otud4 T A 8: 80,378,294 (GRCm39) probably benign Het
Per3 A G 4: 151,093,705 (GRCm39) probably null Het
Pigr G A 1: 130,769,540 (GRCm39) R117Q possibly damaging Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Prex2 T A 1: 11,160,108 (GRCm39) probably benign Het
Sall4 G A 2: 168,594,555 (GRCm39) P420L probably benign Het
Sap30bp A G 11: 115,855,046 (GRCm39) K252R probably damaging Het
Sec63 T A 10: 42,703,914 (GRCm39) Y692* probably null Het
Sema3e C T 5: 14,260,390 (GRCm39) T181M probably damaging Het
Sf3b3 T C 8: 111,540,464 (GRCm39) I986V probably benign Het
Shisa4 A T 1: 135,299,700 (GRCm39) Y194* probably null Het
Slc17a6 G A 7: 51,311,333 (GRCm39) probably benign Het
Smg1 T G 7: 117,765,190 (GRCm39) probably null Het
Smim7 C T 8: 73,324,849 (GRCm39) G9R probably damaging Het
Spata31d1d C T 13: 59,874,311 (GRCm39) G1075R probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Stag3 T C 5: 138,302,771 (GRCm39) probably benign Het
Tbce A G 13: 14,184,227 (GRCm39) I217T possibly damaging Het
Tpk1 G A 6: 43,588,284 (GRCm39) P27S probably benign Het
Tsc22d1 A G 14: 76,655,797 (GRCm39) I2V probably benign Het
Tulp4 T G 17: 6,283,490 (GRCm39) V1173G possibly damaging Het
Uchl1 T C 5: 66,834,417 (GRCm39) probably null Het
Ugt2b38 T A 5: 87,571,492 (GRCm39) Q180L probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ACCTTAGCACTTCTTGCCCAGAAC -3'
(R):5'- CCTGGTCCCTTACGGTAGAAAAGC -3'

Sequencing Primer
(F):5'- CAGGCAATAAAATAACACTTGGTGC -3'
(R):5'- GAATGTCAGCAGACCTCTTTAGG -3'
Posted On 2014-05-23