Incidental Mutation 'R5058:Atp11b'
ID 391000
Institutional Source Beutler Lab
Gene Symbol Atp11b
Ensembl Gene ENSMUSG00000037400
Gene Name ATPase, class VI, type 11B
Synonyms 1110019I14Rik
MMRRC Submission 042648-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R5058 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 35808255-35910425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35863510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 202 (E202G)
Ref Sequence ENSEMBL: ENSMUSP00000142676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029257] [ENSMUST00000198599]
AlphaFold Q6DFW5
Predicted Effect probably benign
Transcript: ENSMUST00000029257
AA Change: E402G

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029257
Gene: ENSMUSG00000037400
AA Change: E402G

DomainStartEndE-ValueType
Pfam:PhoLip_ATPase_N 21 90 2.4e-24 PFAM
Pfam:E1-E2_ATPase 95 369 5.4e-13 PFAM
Pfam:Hydrolase 401 757 1.5e-10 PFAM
Pfam:HAD 404 829 5.9e-20 PFAM
Pfam:Cation_ATPase 492 605 7.1e-13 PFAM
Pfam:PhoLip_ATPase_C 846 1099 1.5e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196965
Predicted Effect probably benign
Transcript: ENSMUST00000198599
AA Change: E202G

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142676
Gene: ENSMUSG00000037400
AA Change: E202G

DomainStartEndE-ValueType
low complexity region 90 107 N/A INTRINSIC
Pfam:Hydrolase 201 632 3e-17 PFAM
Pfam:HAD 204 629 4e-16 PFAM
Pfam:Hydrolase_like2 292 405 1.2e-13 PFAM
low complexity region 833 848 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200445
Meta Mutation Damage Score 0.2784 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,292,625 (GRCm39) Y222C probably damaging Het
Adprs A G 4: 126,212,238 (GRCm39) S94P probably damaging Het
Cacna1d G T 14: 29,836,201 (GRCm39) S849* probably null Het
Camsap1 T C 2: 25,829,375 (GRCm39) D783G probably benign Het
Cbfa2t2 T A 2: 154,346,665 (GRCm39) I124N probably damaging Het
Ccdc13 A T 9: 121,646,613 (GRCm39) probably benign Het
Cfap44 G A 16: 44,240,567 (GRCm39) probably null Het
Col17a1 C A 19: 47,673,989 (GRCm39) E13* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dennd6b A G 15: 89,071,553 (GRCm39) L288P possibly damaging Het
Dhx37 A C 5: 125,499,295 (GRCm39) Y638D probably benign Het
Epb41 G A 4: 131,734,746 (GRCm39) probably benign Het
Esp31 A T 17: 38,955,500 (GRCm39) I48L possibly damaging Het
Fat3 T C 9: 15,908,154 (GRCm39) Q2616R probably damaging Het
Fbxo33 A G 12: 59,265,919 (GRCm39) I116T probably benign Het
Flnb G T 14: 7,924,262 (GRCm38) E1792* probably null Het
Fzd2 G A 11: 102,495,633 (GRCm39) G26R probably damaging Het
Gm11677 T A 11: 111,616,264 (GRCm39) noncoding transcript Het
Gm7137 A T 10: 77,623,905 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,063,648 (GRCm39) T252A possibly damaging Het
Hyal5 T C 6: 24,891,484 (GRCm39) F433L probably damaging Het
Kcnmb4 T A 10: 116,299,833 (GRCm39) probably benign Het
Meltf A G 16: 31,706,421 (GRCm39) probably null Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Muc6 T C 7: 141,230,491 (GRCm39) D1213G probably benign Het
Ncam1 A C 9: 49,709,995 (GRCm39) F12C probably benign Het
Nfxl1 A T 5: 72,713,582 (GRCm39) D120E probably benign Het
Nrg1 T C 8: 32,314,587 (GRCm39) Q142R probably damaging Het
Or10c1 A G 17: 37,522,558 (GRCm39) L62P probably damaging Het
Or1j18 T G 2: 36,625,011 (GRCm39) L226R possibly damaging Het
Or2h15 G A 17: 38,441,432 (GRCm39) S217F probably damaging Het
Or56a4 T C 7: 104,806,355 (GRCm39) N178S probably damaging Het
Or5k16 T C 16: 58,736,435 (GRCm39) T190A probably benign Het
Or8c10 C A 9: 38,279,220 (GRCm39) T116K probably damaging Het
Or8g30 C A 9: 39,229,960 (GRCm39) V317L probably benign Het
Or9s18 C A 13: 65,300,743 (GRCm39) A235D possibly damaging Het
Padi2 G T 4: 140,659,432 (GRCm39) V246L probably benign Het
Pgghg C T 7: 140,522,455 (GRCm39) T63I possibly damaging Het
Pitpnm1 A G 19: 4,162,758 (GRCm39) N1117S probably benign Het
Plch1 G T 3: 63,630,202 (GRCm39) T534K probably damaging Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Polr3c T C 3: 96,630,833 (GRCm39) I196V probably benign Het
Prph A T 15: 98,953,113 (GRCm39) probably benign Het
Ptprg C A 14: 12,037,387 (GRCm38) T189K possibly damaging Het
R3hcc1 A T 14: 69,941,463 (GRCm39) I183N probably damaging Het
Rundc1 T C 11: 101,316,363 (GRCm39) L145P probably benign Het
Slc26a3 A G 12: 31,520,964 (GRCm39) K723E possibly damaging Het
Slc38a3 T C 9: 107,536,390 (GRCm39) E2G possibly damaging Het
Slc9a5 G T 8: 106,082,490 (GRCm39) V252L probably benign Het
Smim26 C T 2: 144,437,043 (GRCm39) T64M probably benign Het
Socs4 C T 14: 47,527,589 (GRCm39) R175* probably null Het
Srebf2 T C 15: 82,066,251 (GRCm39) S600P probably damaging Het
Tas2r107 A T 6: 131,636,705 (GRCm39) S115T probably damaging Het
Tenm2 T C 11: 36,097,907 (GRCm39) D447G possibly damaging Het
Thbs2 T A 17: 14,896,591 (GRCm39) D766V probably damaging Het
Tinagl1 A G 4: 130,061,250 (GRCm39) V300A probably benign Het
Tle6 T A 10: 81,430,072 (GRCm39) N332I possibly damaging Het
Tle6 C A 10: 81,431,791 (GRCm39) W151L probably damaging Het
Tnfrsf13c C T 15: 82,108,408 (GRCm39) V36M probably damaging Het
Tns2 T C 15: 102,016,295 (GRCm39) I211T possibly damaging Het
Trp63 A G 16: 25,701,344 (GRCm39) N379D probably damaging Het
Trpc2 T C 7: 101,738,316 (GRCm39) W433R probably damaging Het
Tyw1 T A 5: 130,305,927 (GRCm39) L350Q probably benign Het
Usf3 T C 16: 44,033,070 (GRCm39) L76P probably damaging Het
Vmn2r79 T C 7: 86,651,423 (GRCm39) L274P probably damaging Het
Other mutations in Atp11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Atp11b APN 3 35,863,525 (GRCm39) splice site probably null
IGL00722:Atp11b APN 3 35,874,084 (GRCm39) missense probably damaging 1.00
IGL00725:Atp11b APN 3 35,881,222 (GRCm39) missense probably damaging 0.97
IGL01514:Atp11b APN 3 35,891,130 (GRCm39) missense probably damaging 1.00
IGL01532:Atp11b APN 3 35,903,651 (GRCm39) nonsense probably null
IGL01789:Atp11b APN 3 35,843,741 (GRCm39) missense possibly damaging 0.81
IGL01915:Atp11b APN 3 35,885,612 (GRCm39) missense probably damaging 1.00
IGL02009:Atp11b APN 3 35,868,301 (GRCm39) missense probably benign 0.07
IGL02049:Atp11b APN 3 35,854,642 (GRCm39) missense probably damaging 0.99
IGL02952:Atp11b APN 3 35,882,844 (GRCm39) missense probably damaging 1.00
IGL02991:Atp11b UTSW 3 35,881,140 (GRCm39) missense probably benign 0.00
R0044:Atp11b UTSW 3 35,866,401 (GRCm39) missense probably damaging 0.99
R0254:Atp11b UTSW 3 35,866,259 (GRCm39) missense possibly damaging 0.82
R0538:Atp11b UTSW 3 35,891,163 (GRCm39) missense probably damaging 1.00
R0541:Atp11b UTSW 3 35,861,093 (GRCm39) missense probably damaging 0.99
R0653:Atp11b UTSW 3 35,893,343 (GRCm39) missense probably damaging 0.99
R0790:Atp11b UTSW 3 35,887,072 (GRCm39) missense probably damaging 1.00
R1083:Atp11b UTSW 3 35,832,162 (GRCm39) splice site probably benign
R1371:Atp11b UTSW 3 35,860,918 (GRCm39) missense probably damaging 0.97
R1458:Atp11b UTSW 3 35,843,707 (GRCm39) missense probably damaging 1.00
R1875:Atp11b UTSW 3 35,893,296 (GRCm39) missense probably damaging 1.00
R1921:Atp11b UTSW 3 35,888,474 (GRCm39) missense probably damaging 1.00
R2008:Atp11b UTSW 3 35,909,271 (GRCm39) missense probably damaging 0.97
R2065:Atp11b UTSW 3 35,893,223 (GRCm39) missense probably damaging 1.00
R2112:Atp11b UTSW 3 35,891,677 (GRCm39) missense probably damaging 1.00
R2228:Atp11b UTSW 3 35,861,091 (GRCm39) missense probably damaging 1.00
R2270:Atp11b UTSW 3 35,864,283 (GRCm39) splice site probably null
R2273:Atp11b UTSW 3 35,882,762 (GRCm39) missense probably benign 0.04
R2439:Atp11b UTSW 3 35,868,233 (GRCm39) missense possibly damaging 0.68
R2497:Atp11b UTSW 3 35,909,294 (GRCm39) missense probably damaging 0.99
R4181:Atp11b UTSW 3 35,854,714 (GRCm39) missense probably benign 0.19
R4181:Atp11b UTSW 3 35,843,707 (GRCm39) missense probably damaging 1.00
R4714:Atp11b UTSW 3 35,888,543 (GRCm39) missense probably benign 0.02
R4923:Atp11b UTSW 3 35,889,528 (GRCm39) critical splice donor site probably null
R4937:Atp11b UTSW 3 35,861,157 (GRCm39) splice site probably null
R5013:Atp11b UTSW 3 35,888,532 (GRCm39) missense possibly damaging 0.66
R5171:Atp11b UTSW 3 35,887,086 (GRCm39) missense probably damaging 1.00
R5200:Atp11b UTSW 3 35,891,156 (GRCm39) missense probably benign 0.21
R5465:Atp11b UTSW 3 35,864,333 (GRCm39) missense probably benign 0.00
R5651:Atp11b UTSW 3 35,909,289 (GRCm39) missense probably damaging 1.00
R5689:Atp11b UTSW 3 35,888,501 (GRCm39) missense possibly damaging 0.67
R5718:Atp11b UTSW 3 35,891,665 (GRCm39) missense probably benign 0.12
R5807:Atp11b UTSW 3 35,866,428 (GRCm39) missense probably damaging 1.00
R5888:Atp11b UTSW 3 35,891,696 (GRCm39) missense probably benign 0.15
R6059:Atp11b UTSW 3 35,868,326 (GRCm39) missense possibly damaging 0.72
R6259:Atp11b UTSW 3 35,861,050 (GRCm39) missense probably damaging 1.00
R6359:Atp11b UTSW 3 35,832,210 (GRCm39) missense probably benign 0.04
R6367:Atp11b UTSW 3 35,838,686 (GRCm39) missense probably damaging 1.00
R6577:Atp11b UTSW 3 35,893,311 (GRCm39) missense probably damaging 0.99
R6818:Atp11b UTSW 3 35,868,329 (GRCm39) missense possibly damaging 0.71
R7016:Atp11b UTSW 3 35,895,185 (GRCm39) missense probably benign
R7178:Atp11b UTSW 3 35,874,099 (GRCm39) missense probably benign 0.34
R7614:Atp11b UTSW 3 35,864,259 (GRCm39) splice site probably null
R7729:Atp11b UTSW 3 35,832,256 (GRCm39) missense probably damaging 0.97
R7910:Atp11b UTSW 3 35,885,652 (GRCm39) missense possibly damaging 0.68
R7967:Atp11b UTSW 3 35,895,192 (GRCm39) missense probably benign 0.03
R8085:Atp11b UTSW 3 35,895,185 (GRCm39) missense probably benign
R8095:Atp11b UTSW 3 35,888,565 (GRCm39) missense probably damaging 1.00
R8499:Atp11b UTSW 3 35,864,854 (GRCm39) missense probably benign 0.01
R8672:Atp11b UTSW 3 35,874,066 (GRCm39) missense probably benign 0.19
R9046:Atp11b UTSW 3 35,852,740 (GRCm39) splice site probably benign
R9047:Atp11b UTSW 3 35,861,038 (GRCm39) missense probably damaging 0.98
R9065:Atp11b UTSW 3 35,887,131 (GRCm39) critical splice donor site probably null
R9713:Atp11b UTSW 3 35,885,560 (GRCm39) missense probably damaging 1.00
R9761:Atp11b UTSW 3 35,903,621 (GRCm39) missense probably benign 0.25
R9761:Atp11b UTSW 3 35,903,616 (GRCm39) missense probably damaging 1.00
R9761:Atp11b UTSW 3 35,903,607 (GRCm39) nonsense probably null
Z1088:Atp11b UTSW 3 35,866,362 (GRCm39) missense probably damaging 1.00
Z1177:Atp11b UTSW 3 35,861,003 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- AATCAGACCATCTTGGCCAGG -3'
(R):5'- TCACTTTCAGGACTGGTTCTAAG -3'

Sequencing Primer
(F):5'- CCATCTTGGCCAGGAGATAGAC -3'
(R):5'- CTTTCAGGACTGGTTCTAAGAGAAG -3'
Posted On 2016-06-06