Incidental Mutation 'R7188:Atp9b'
ID 559460
Institutional Source Beutler Lab
Gene Symbol Atp9b
Ensembl Gene ENSMUSG00000024566
Gene Name ATPase, class II, type 9B
Synonyms IIb
MMRRC Submission 045272-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R7188 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 80777356-80977275 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80961041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 57 (S57P)
Ref Sequence ENSEMBL: ENSMUSP00000089394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091790] [ENSMUST00000225205] [ENSMUST00000225235] [ENSMUST00000225980] [ENSMUST00000226064]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000089394
Gene: ENSMUSG00000024566
AA Change: S57P

DomainStartEndE-ValueType
low complexity region 11 39 N/A INTRINSIC
Pfam:PhoLip_ATPase_N 110 181 5.3e-21 PFAM
Pfam:E1-E2_ATPase 186 444 9.1e-15 PFAM
Pfam:Hydrolase 463 885 2.7e-13 PFAM
Pfam:HAD 464 882 4.8e-14 PFAM
Pfam:Cation_ATPase 563 664 3.7e-7 PFAM
Pfam:PhoLip_ATPase_C 899 1128 1.1e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224709
Predicted Effect probably benign
Transcript: ENSMUST00000225205
AA Change: S57P

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000225235
AA Change: S57P

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000225980
AA Change: S57P

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000226064
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,554,600 (GRCm39) Y118C possibly damaging Het
Abcb6 A G 1: 75,150,781 (GRCm39) probably null Het
Acox2 T A 14: 8,252,996 (GRCm38) I236L possibly damaging Het
Adamts12 A T 15: 11,336,411 (GRCm39) K1499* probably null Het
Ankrd24 G T 10: 81,472,224 (GRCm39) E20* probably null Het
Arsa A T 15: 89,359,830 (GRCm39) Y32* probably null Het
Atr G T 9: 95,744,844 (GRCm39) E54* probably null Het
Bace1 A G 9: 45,767,393 (GRCm39) D192G probably benign Het
Bltp1 A T 3: 37,004,162 (GRCm39) T1624S probably benign Het
Bltp3b T C 10: 89,615,744 (GRCm39) V129A probably damaging Het
Cacna1d T C 14: 29,811,790 (GRCm39) S1309G probably benign Het
Cd177 G T 7: 24,456,072 (GRCm39) T232K probably damaging Het
Chil4 T A 3: 106,111,475 (GRCm39) D213V probably damaging Het
Cmya5 A T 13: 93,182,546 (GRCm39) I3538N probably damaging Het
Cyp26a1 T A 19: 37,687,753 (GRCm39) M287K possibly damaging Het
Dcaf5 T C 12: 80,446,732 (GRCm39) D129G probably damaging Het
Dnah12 A C 14: 26,536,370 (GRCm39) K2095N probably benign Het
Dnpep G A 1: 75,292,701 (GRCm39) S106L probably damaging Het
Dock2 C T 11: 34,189,675 (GRCm39) E1499K possibly damaging Het
Dus4l A G 12: 31,696,714 (GRCm39) F88L probably damaging Het
Fcrl2 A C 3: 87,166,830 (GRCm39) D54E probably benign Het
Fign T A 2: 63,809,950 (GRCm39) H440L possibly damaging Het
Gabpa A G 16: 84,643,174 (GRCm39) D157G probably damaging Het
Gapdh T A 6: 125,142,403 (GRCm39) probably benign Het
Gbp8 G T 5: 105,164,081 (GRCm39) R406S probably benign Het
Gm21775 A G Y: 10,553,894 (GRCm39) R148G possibly damaging Het
Gm28363 G A 1: 117,626,579 (GRCm39) V6I unknown Het
Gmps A G 3: 63,918,982 (GRCm39) D522G probably damaging Het
Gpr75 T C 11: 30,842,687 (GRCm39) S531P probably damaging Het
Hars2 G T 18: 36,923,614 (GRCm39) E468D probably benign Het
Jph4 C A 14: 55,352,664 (GRCm39) R23L probably damaging Het
Kctd12 T A 14: 103,219,230 (GRCm39) Y216F probably benign Het
L3mbtl1 G A 2: 162,791,460 (GRCm39) probably null Het
Lama4 G A 10: 38,841,729 (GRCm39) probably benign Het
Lyst T A 13: 13,926,675 (GRCm39) S3494T possibly damaging Het
Mybpc2 A G 7: 44,155,617 (GRCm39) S879P probably benign Het
Ncaph C T 2: 126,964,034 (GRCm39) V304M probably benign Het
Noto A T 6: 85,405,047 (GRCm39) I229F possibly damaging Het
Or10n7-ps1 T C 9: 39,597,731 (GRCm39) M170V unknown Het
Or4c29 T C 2: 88,740,203 (GRCm39) D178G probably damaging Het
Or8k25 T A 2: 86,243,695 (GRCm39) K234* probably null Het
Pald1 A T 10: 61,182,845 (GRCm39) V368E probably damaging Het
Pde9a T A 17: 31,678,071 (GRCm39) M217K probably damaging Het
Pira1 A T 7: 3,741,828 (GRCm39) V184E probably damaging Het
Pitpnm2 G T 5: 124,259,366 (GRCm39) A1323E probably benign Het
Ppp1r3a T C 6: 14,719,190 (GRCm39) S575G probably benign Het
Prok1 T C 3: 107,146,941 (GRCm39) I9V probably benign Het
Ptprc A T 1: 137,998,918 (GRCm39) V905D probably damaging Het
Rbm25 G T 12: 83,710,772 (GRCm39) G295V unknown Het
Rreb1 T C 13: 38,100,544 (GRCm39) M225T possibly damaging Het
Ryr3 T C 2: 112,858,989 (GRCm39) K55E probably damaging Het
Saxo4 T A 19: 10,459,702 (GRCm39) M2L probably benign Het
Scgb2b26 G T 7: 33,644,379 (GRCm39) T4K probably damaging Het
Setx C A 2: 29,038,184 (GRCm39) D1556E probably benign Het
Sft2d1 C T 17: 8,542,164 (GRCm39) T136I possibly damaging Het
Sirt5 C T 13: 43,525,380 (GRCm39) A63V possibly damaging Het
Skor2 A G 18: 76,947,504 (GRCm39) T409A possibly damaging Het
Slc12a6 T C 2: 112,164,760 (GRCm39) M153T probably benign Het
Slc34a1 A G 13: 24,006,348 (GRCm39) Y458C probably damaging Het
Slc36a2 A G 11: 55,053,483 (GRCm39) V385A possibly damaging Het
St6galnac5 A T 3: 152,552,131 (GRCm39) H145Q probably damaging Het
Tal1 T A 4: 114,925,610 (GRCm39) N226K probably damaging Het
Tgtp2 G C 11: 48,950,135 (GRCm39) R146G probably damaging Het
Usp6nl T C 2: 6,445,330 (GRCm39) S436P probably benign Het
Utp3 A G 5: 88,702,621 (GRCm39) E50G probably benign Het
Zfp12 A T 5: 143,225,749 (GRCm39) Q19L probably damaging Het
Other mutations in Atp9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Atp9b APN 18 80,961,103 (GRCm39) intron probably benign
IGL00769:Atp9b APN 18 80,956,068 (GRCm39) missense probably benign 0.08
IGL00851:Atp9b APN 18 80,809,125 (GRCm39) missense probably damaging 1.00
IGL01529:Atp9b APN 18 80,887,826 (GRCm39) intron probably benign
IGL01637:Atp9b APN 18 80,799,670 (GRCm39) missense probably benign 0.06
IGL01973:Atp9b APN 18 80,801,518 (GRCm39) missense probably benign 0.02
IGL02082:Atp9b APN 18 80,935,145 (GRCm39) intron probably benign
IGL02560:Atp9b APN 18 80,805,413 (GRCm39) missense probably benign 0.23
IGL02981:Atp9b APN 18 80,797,504 (GRCm39) missense possibly damaging 0.93
IGL03151:Atp9b APN 18 80,820,065 (GRCm39) missense probably benign 0.28
IGL03304:Atp9b APN 18 80,961,092 (GRCm39) missense probably damaging 1.00
IGL03348:Atp9b APN 18 80,879,637 (GRCm39) missense possibly damaging 0.88
R0056:Atp9b UTSW 18 80,809,018 (GRCm39) missense probably damaging 0.99
R0355:Atp9b UTSW 18 80,952,800 (GRCm39) intron probably benign
R0366:Atp9b UTSW 18 80,805,317 (GRCm39) missense probably damaging 1.00
R0557:Atp9b UTSW 18 80,809,137 (GRCm39) missense probably damaging 1.00
R0612:Atp9b UTSW 18 80,797,171 (GRCm39) missense possibly damaging 0.81
R1099:Atp9b UTSW 18 80,901,841 (GRCm39) missense probably damaging 1.00
R1126:Atp9b UTSW 18 80,822,169 (GRCm39) missense probably damaging 1.00
R1499:Atp9b UTSW 18 80,822,122 (GRCm39) missense probably benign 0.02
R1499:Atp9b UTSW 18 80,805,353 (GRCm39) missense probably damaging 0.99
R1764:Atp9b UTSW 18 80,952,806 (GRCm39) critical splice donor site probably null
R1780:Atp9b UTSW 18 80,820,112 (GRCm39) nonsense probably null
R1782:Atp9b UTSW 18 80,809,137 (GRCm39) missense probably damaging 1.00
R1835:Atp9b UTSW 18 80,822,098 (GRCm39) missense probably benign 0.00
R1859:Atp9b UTSW 18 80,793,135 (GRCm39) missense possibly damaging 0.95
R1953:Atp9b UTSW 18 80,797,522 (GRCm39) missense possibly damaging 0.80
R2140:Atp9b UTSW 18 80,779,302 (GRCm39) missense probably damaging 0.99
R2191:Atp9b UTSW 18 80,796,266 (GRCm39) missense probably damaging 1.00
R4118:Atp9b UTSW 18 80,793,044 (GRCm39) missense possibly damaging 0.83
R4605:Atp9b UTSW 18 80,796,364 (GRCm39) critical splice acceptor site probably null
R4654:Atp9b UTSW 18 80,935,093 (GRCm39) missense probably benign 0.00
R4767:Atp9b UTSW 18 80,796,285 (GRCm39) missense probably damaging 1.00
R4775:Atp9b UTSW 18 80,808,984 (GRCm39) critical splice donor site probably null
R4936:Atp9b UTSW 18 80,779,308 (GRCm39) missense possibly damaging 0.58
R5096:Atp9b UTSW 18 80,805,399 (GRCm39) missense probably benign 0.39
R5279:Atp9b UTSW 18 80,956,073 (GRCm39) missense probably damaging 0.98
R5394:Atp9b UTSW 18 80,820,052 (GRCm39) missense probably benign 0.16
R5774:Atp9b UTSW 18 80,977,147 (GRCm39) missense probably damaging 0.96
R5877:Atp9b UTSW 18 80,796,004 (GRCm39) missense probably benign
R6080:Atp9b UTSW 18 80,782,023 (GRCm39) missense probably benign 0.03
R6170:Atp9b UTSW 18 80,920,562 (GRCm39) missense probably benign 0.16
R6250:Atp9b UTSW 18 80,799,736 (GRCm39) missense probably benign 0.01
R6340:Atp9b UTSW 18 80,822,115 (GRCm39) missense probably benign 0.38
R6498:Atp9b UTSW 18 80,820,230 (GRCm39) missense probably benign 0.03
R6620:Atp9b UTSW 18 80,851,902 (GRCm39) nonsense probably null
R6632:Atp9b UTSW 18 80,851,864 (GRCm39) missense probably damaging 1.00
R6665:Atp9b UTSW 18 80,960,950 (GRCm39) missense probably benign 0.26
R6821:Atp9b UTSW 18 80,890,463 (GRCm39) missense probably damaging 1.00
R6927:Atp9b UTSW 18 80,935,072 (GRCm39) missense possibly damaging 0.63
R6977:Atp9b UTSW 18 80,796,317 (GRCm39) missense probably damaging 1.00
R7133:Atp9b UTSW 18 80,952,871 (GRCm39) missense
R7396:Atp9b UTSW 18 80,780,057 (GRCm39) missense
R7432:Atp9b UTSW 18 80,809,056 (GRCm39) missense
R7457:Atp9b UTSW 18 80,960,833 (GRCm39) splice site probably null
R7877:Atp9b UTSW 18 80,890,412 (GRCm39) missense
R8072:Atp9b UTSW 18 80,808,276 (GRCm39) missense
R8167:Atp9b UTSW 18 80,890,398 (GRCm39) missense
R8420:Atp9b UTSW 18 80,887,806 (GRCm39) missense
R8700:Atp9b UTSW 18 80,796,361 (GRCm39) missense
R8830:Atp9b UTSW 18 80,809,015 (GRCm39) missense
R8884:Atp9b UTSW 18 80,838,562 (GRCm39) missense
R9172:Atp9b UTSW 18 80,960,993 (GRCm39) nonsense probably null
R9463:Atp9b UTSW 18 80,809,051 (GRCm39) missense
R9735:Atp9b UTSW 18 80,838,629 (GRCm39) missense
Z1176:Atp9b UTSW 18 80,809,080 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TCCTTAGTCTTCATACCAACATAACAG -3'
(R):5'- TGCCTCAGTTGAAGGCAGC -3'

Sequencing Primer
(F):5'- CCTAACACCTAAGCTAGCTGC -3'
(R):5'- GGGCTTTTGAAACCTCCAAG -3'
Posted On 2019-06-26