Incidental Mutation 'R7133:Atp9b'
ID 552872
Institutional Source Beutler Lab
Gene Symbol Atp9b
Ensembl Gene ENSMUSG00000024566
Gene Name ATPase, class II, type 9B
Synonyms IIb
MMRRC Submission 045218-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R7133 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 80777356-80977275 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80952871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 164 (V164A)
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: V164A

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
AA Change: V40A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225205
AA Change: V164A

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225235
AA Change: V164A

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000225980
AA Change: V164A

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000226064
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (91/93)
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T A 10: 78,902,473 (GRCm39) K614N probably benign Het
2610008E11Rik T G 10: 78,902,474 (GRCm39) K614T probably benign Het
Ahsa1 T A 12: 87,317,116 (GRCm39) S120R probably benign Het
Anapc16 G A 10: 59,832,302 (GRCm39) T37I possibly damaging Het
Arid2 C A 15: 96,276,756 (GRCm39) P1606H probably damaging Het
Ash1l TATCTCCTTTTCCAAAAA TA 3: 88,890,764 (GRCm39) probably null Het
Asic1 T A 15: 99,569,968 (GRCm39) N96K probably damaging Het
Asph A T 4: 9,484,575 (GRCm39) D582E probably benign Het
Astn1 A G 1: 158,400,557 (GRCm39) D528G probably damaging Het
Cbx6 C T 15: 79,712,866 (GRCm39) G187D possibly damaging Het
Cct7 A G 6: 85,443,627 (GRCm39) T332A probably benign Het
Clca4a A T 3: 144,667,651 (GRCm39) L440* probably null Het
Crybg2 A T 4: 133,792,754 (GRCm39) I130F probably benign Het
Crybg3 T C 16: 59,357,167 (GRCm39) E798G probably damaging Het
Ctnnd2 A G 15: 30,480,995 (GRCm39) E81G possibly damaging Het
Cwc22 C T 2: 77,759,822 (GRCm39) R75H possibly damaging Het
Cym T G 3: 107,121,530 (GRCm39) D254A probably damaging Het
Dcaf11 T A 14: 55,806,383 (GRCm39) probably null Het
Dctn1 A T 6: 83,157,026 (GRCm39) probably null Het
Dennd5a C T 7: 109,495,449 (GRCm39) probably null Het
Dmpk T A 7: 18,821,232 (GRCm39) C217S probably damaging Het
Dnah1 C A 14: 31,008,033 (GRCm39) V2125L probably benign Het
Exoc4 G A 6: 33,415,408 (GRCm39) A427T probably benign Het
Farp2 G T 1: 93,548,956 (GRCm39) V1021F probably damaging Het
Flg2 T C 3: 93,127,069 (GRCm39) S1994P unknown Het
Fmnl1 T C 11: 103,072,610 (GRCm39) probably null Het
Frem2 T A 3: 53,479,760 (GRCm39) I1978F possibly damaging Het
Gan T A 8: 117,913,969 (GRCm39) C122* probably null Het
Gpr25 T A 1: 136,188,559 (GRCm39) Y18F probably damaging Het
Hoxa7 C T 6: 52,192,720 (GRCm39) E223K probably benign Het
Hypk A G 2: 121,283,961 (GRCm39) probably null Het
Ibsp A T 5: 104,450,172 (GRCm39) K27* probably null Het
Ighv6-5 T A 12: 114,380,395 (GRCm39) T41S probably benign Het
Ighv9-4 T C 12: 114,263,757 (GRCm39) M59V probably benign Het
Il17rb T C 14: 29,718,828 (GRCm39) D418G probably damaging Het
Ints5 T A 19: 8,872,923 (GRCm39) V294E probably damaging Het
Irx6 G A 8: 93,405,041 (GRCm39) C303Y probably damaging Het
Itih3 T A 14: 30,639,655 (GRCm39) I389F probably damaging Het
Lama1 C T 17: 68,089,141 (GRCm39) T1604I Het
Lama3 C A 18: 12,672,843 (GRCm39) Q873K probably benign Het
Lhx1 T G 11: 84,410,746 (GRCm39) S284R probably benign Het
Lrba T A 3: 86,302,238 (GRCm39) probably null Het
Lrg1 C T 17: 56,427,592 (GRCm39) G127R possibly damaging Het
Macir G A 1: 97,573,645 (GRCm39) P140L probably benign Het
Mapre1 T A 2: 153,606,883 (GRCm39) L205H probably benign Het
Meltf A G 16: 31,711,617 (GRCm39) N581S probably damaging Het
Mgat5 A C 1: 127,292,926 (GRCm39) M149L probably benign Het
Myh1 A G 11: 67,093,412 (GRCm39) T168A probably benign Het
Naalad2 C T 9: 18,238,673 (GRCm39) V681I probably benign Het
Or51e2 A G 7: 102,391,524 (GRCm39) S229P probably damaging Het
Or52r1c T A 7: 102,735,205 (GRCm39) L155Q probably damaging Het
Pcnx2 T C 8: 126,528,243 (GRCm39) T1326A probably benign Het
Peg3 A T 7: 6,711,944 (GRCm39) C1093S probably damaging Het
Pidd1 T C 7: 141,019,813 (GRCm39) S650G probably benign Het
Pik3c2b T C 1: 133,017,972 (GRCm39) S945P possibly damaging Het
Plec T C 15: 76,060,227 (GRCm39) T3237A possibly damaging Het
Prpf3 A T 3: 95,741,052 (GRCm39) probably null Het
Prpf4b C A 13: 35,085,477 (GRCm39) H974Q probably benign Het
Ptpn3 T C 4: 57,225,863 (GRCm39) T451A probably benign Het
Ptprs A G 17: 56,724,429 (GRCm39) Y1577H probably damaging Het
Rgr C T 14: 36,770,882 (GRCm39) M1I probably null Het
Rxrg A T 1: 167,458,678 (GRCm39) N257I probably benign Het
Sbno2 T C 10: 79,922,146 (GRCm39) D9G probably damaging Het
Scd1 T C 19: 44,395,034 (GRCm39) K64E probably damaging Het
Serpinb1a T A 13: 33,034,308 (GRCm39) I28F possibly damaging Het
Sfmbt2 A T 2: 10,406,818 (GRCm39) E39V probably damaging Het
Slc29a1 A G 17: 45,900,897 (GRCm39) M89T possibly damaging Het
Slco4a1 T A 2: 180,113,856 (GRCm39) V431E possibly damaging Het
Smg1 C T 7: 117,752,131 (GRCm39) C2698Y unknown Het
Sptlc2 C T 12: 87,397,151 (GRCm39) D212N probably benign Het
St6galnac1 T C 11: 116,657,899 (GRCm39) T334A possibly damaging Het
Stim2 A T 5: 54,156,263 (GRCm39) D13V possibly damaging Het
Syne1 A G 10: 5,181,592 (GRCm39) W4248R probably damaging Het
Tanc1 T C 2: 59,627,953 (GRCm39) Y584H probably benign Het
Thoc6 C A 17: 23,892,634 (GRCm39) probably null Het
Trim30a T A 7: 104,078,533 (GRCm39) N181I possibly damaging Het
Trip11 T A 12: 101,850,329 (GRCm39) Q1245L probably damaging Het
Tshz3 A G 7: 36,469,994 (GRCm39) D661G probably benign Het
Ttll8 C A 15: 88,799,630 (GRCm39) V604L probably damaging Het
Ubtfl1 A G 9: 18,320,931 (GRCm39) D153G probably damaging Het
Ufsp2 C A 8: 46,436,661 (GRCm39) N137K probably benign Het
Ugt2a3 A G 5: 87,473,393 (GRCm39) I508T possibly damaging Het
Uso1 G A 5: 92,306,324 (GRCm39) E94K probably benign Het
Usp54 A G 14: 20,611,310 (GRCm39) S1169P probably benign Het
Vmn1r235 C T 17: 21,482,292 (GRCm39) P206S probably benign Het
Vmn1r69 T C 7: 10,314,995 (GRCm39) probably benign Het
Zfp263 T A 16: 3,567,255 (GRCm39) C523* probably null Het
Zfp799 G T 17: 33,039,210 (GRCm39) T352K probably benign Het
Zfr T A 15: 12,180,724 (GRCm39) V951E probably damaging Het
Zfyve26 T C 12: 79,330,926 (GRCm39) D431G probably benign Het
Zswim9 C A 7: 12,993,664 (GRCm39) A831S 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
R7188:Atp9b UTSW 18 80,961,041 (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'- TGCTACAGGAAACCTCATGC -3'
(R):5'- TGTAAAGCTCAGTGTCTGTGC -3'

Sequencing Primer
(F):5'- cagacaaacaaacaaaAAGAA -3'
(R):5'- TCAGTGTCTGTGCCAAAAAGC -3'
Posted On 2019-05-15