Incidental Mutation 'R1521:Atp7b'
ID 166994
Institutional Source Beutler Lab
Gene Symbol Atp7b
Ensembl Gene ENSMUSG00000006567
Gene Name ATPase, Cu++ transporting, beta polypeptide
Synonyms Atp7a, WND, Wilson protein
MMRRC Submission 040870-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.636) question?
Stock # R1521 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 22482801-22550321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22517689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 268 (L268Q)
Ref Sequence ENSEMBL: ENSMUSP00000106366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006742] [ENSMUST00000110738]
AlphaFold Q64446
Predicted Effect possibly damaging
Transcript: ENSMUST00000006742
AA Change: L383Q

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006742
Gene: ENSMUSG00000006567
AA Change: L383Q

DomainStartEndE-ValueType
Pfam:HMA 71 132 8.8e-14 PFAM
Pfam:HMA 156 217 6.6e-13 PFAM
Pfam:HMA 271 329 7.4e-13 PFAM
Pfam:HMA 364 425 1.1e-10 PFAM
Pfam:HMA 493 554 2.3e-14 PFAM
Pfam:HMA 569 630 3.1e-15 PFAM
transmembrane domain 656 675 N/A INTRINSIC
Pfam:E1-E2_ATPase 770 1018 3.3e-60 PFAM
Pfam:Hydrolase 1023 1276 1.3e-67 PFAM
Pfam:HAD 1026 1273 4.6e-10 PFAM
Pfam:Hydrolase_3 1243 1308 5.1e-7 PFAM
transmembrane domain 1322 1344 N/A INTRINSIC
low complexity region 1353 1370 N/A INTRINSIC
low complexity region 1418 1437 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110738
AA Change: L268Q

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106366
Gene: ENSMUSG00000006567
AA Change: L268Q

DomainStartEndE-ValueType
Pfam:HMA 59 120 1.2e-13 PFAM
Pfam:HMA 144 205 9.7e-12 PFAM
PDB:2AW0|A 259 314 6e-6 PDB
Pfam:HMA 378 439 1.6e-13 PFAM
Pfam:HMA 454 515 1.5e-15 PFAM
transmembrane domain 541 560 N/A INTRINSIC
Pfam:E1-E2_ATPase 656 904 4.6e-50 PFAM
Pfam:Hydrolase 908 1161 6.6e-76 PFAM
Pfam:HAD 911 1158 1.5e-15 PFAM
Pfam:Hydrolase_3 1128 1193 8.5e-7 PFAM
transmembrane domain 1207 1229 N/A INTRINSIC
low complexity region 1238 1255 N/A INTRINSIC
low complexity region 1303 1322 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 A G 8: 112,713,867 (GRCm39) L104P possibly damaging Het
Adgrf5 T C 17: 43,741,443 (GRCm39) V360A probably benign Het
Ahnak G A 19: 8,982,092 (GRCm39) M1125I probably benign Het
Akap12 T C 10: 4,304,804 (GRCm39) V538A probably benign Het
Arhgef10l T C 4: 140,242,749 (GRCm39) D1088G possibly damaging Het
Atxn2 A C 5: 121,917,654 (GRCm39) N516T probably damaging Het
Cacna1h T C 17: 25,616,328 (GRCm39) M184V possibly damaging Het
Cacnb2 G T 2: 14,619,163 (GRCm39) R66L probably benign Het
Casp8ap2 A G 4: 32,631,867 (GRCm39) E96G probably damaging Het
Ccdc78 G T 17: 26,007,755 (GRCm39) R264L probably damaging Het
Cdh4 G A 2: 179,439,351 (GRCm39) R166H probably damaging Het
Cog7 C T 7: 121,529,797 (GRCm39) D615N possibly damaging Het
Crtc2 T C 3: 90,164,690 (GRCm39) V115A probably benign Het
Crybg1 A G 10: 43,874,412 (GRCm39) S899P probably damaging Het
Ctdnep1 T A 11: 69,879,461 (GRCm39) V128E probably damaging Het
Ctnna3 A G 10: 64,795,621 (GRCm39) K780E probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Dazap2 T A 15: 100,515,946 (GRCm39) Y91* probably null Het
Dcdc5 T C 2: 106,182,014 (GRCm39) noncoding transcript Het
Dppa1 T A 11: 46,501,300 (GRCm39) R74S possibly damaging Het
Elovl1 A T 4: 118,289,197 (GRCm39) T241S probably benign Het
Eya1 G T 1: 14,344,774 (GRCm39) Q86K probably damaging Het
Fam110d T C 4: 133,978,661 (GRCm39) *272W probably null Het
Fancm A T 12: 65,168,478 (GRCm39) M1614L probably benign Het
Fcgbp C T 7: 27,774,585 (GRCm39) T53I probably benign Het
Fpr3 T A 17: 18,191,277 (GRCm39) W183R probably damaging Het
Galnt13 G A 2: 54,744,657 (GRCm39) V119I probably benign Het
Garin4 T A 1: 190,896,219 (GRCm39) R141S probably benign Het
Gcfc2 T C 6: 81,900,793 (GRCm39) S36P probably benign Het
Gdap2 T A 3: 100,101,931 (GRCm39) D412E possibly damaging Het
Gm12258 T C 11: 58,750,381 (GRCm39) C41R probably damaging Het
Hipk1 T G 3: 103,685,098 (GRCm39) E172D probably benign Het
Hmgcs1 T G 13: 120,165,127 (GRCm39) L326R probably benign Het
Hs6st1 C A 1: 36,107,967 (GRCm39) R77S probably damaging Het
Ifit3 A T 19: 34,564,573 (GRCm39) N40Y probably damaging Het
Il1a T A 2: 129,146,661 (GRCm39) Q144L possibly damaging Het
Itga7 A G 10: 128,793,680 (GRCm39) E1128G possibly damaging Het
Itih2 T C 2: 10,111,558 (GRCm39) D460G probably damaging Het
Ivns1abp G A 1: 151,227,309 (GRCm39) C39Y probably damaging Het
Kif22 G T 7: 126,627,011 (GRCm39) A646E probably damaging Het
Klhl29 T C 12: 5,141,307 (GRCm39) Y559C probably damaging Het
Klhl7 T A 5: 24,354,108 (GRCm39) probably null Het
Klhl9 A G 4: 88,640,230 (GRCm39) S4P probably benign Het
Klk10 A G 7: 43,432,304 (GRCm39) Q79R probably benign Het
Klk6 T C 7: 43,478,699 (GRCm39) probably null Het
Kpna2rt T A 17: 90,217,734 (GRCm39) N4I possibly damaging Het
Lamc2 C T 1: 153,042,009 (GRCm39) E42K probably benign Het
Lingo3 T C 10: 80,671,555 (GRCm39) D125G probably benign Het
Map1b T C 13: 99,569,247 (GRCm39) N1158S unknown Het
Masp1 T A 16: 23,313,387 (GRCm39) N183Y probably damaging Het
Mdga2 A G 12: 66,615,700 (GRCm39) Y636H probably benign Het
Mical2 T A 7: 111,980,817 (GRCm39) S264T probably damaging Het
Mif A G 10: 75,695,375 (GRCm39) V95A possibly damaging Het
Mmp17 G A 5: 129,672,152 (GRCm39) probably null Het
Mmp23 T C 4: 155,735,174 (GRCm39) R390G possibly damaging Het
Ncoa6 A C 2: 155,257,142 (GRCm39) S800R possibly damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nr2e3 A T 9: 59,856,488 (GRCm39) S67R probably damaging Het
Odf2l T C 3: 144,854,797 (GRCm39) S545P possibly damaging Het
Or10d3 A T 9: 39,462,080 (GRCm39) V29E possibly damaging Het
Or4a47 G A 2: 89,665,516 (GRCm39) R258* probably null Het
Or52s1b T A 7: 102,822,658 (GRCm39) Y62F probably benign Het
Or5k1b C T 16: 58,581,216 (GRCm39) E108K probably damaging Het
Or7e176 A C 9: 20,171,728 (GRCm39) Q197H possibly damaging Het
Or7g27 C T 9: 19,249,948 (GRCm39) S64F probably benign Het
Or8b51 T G 9: 38,569,014 (GRCm39) I225L probably damaging Het
Otog A T 7: 45,908,688 (GRCm39) H562L possibly damaging Het
Pcdh15 T C 10: 74,430,023 (GRCm39) V1250A probably damaging Het
Pde1c A G 6: 56,150,592 (GRCm39) V309A possibly damaging Het
Pfkfb4 A C 9: 108,836,373 (GRCm39) T134P probably damaging Het
Phc3 G T 3: 30,990,724 (GRCm39) Q498K possibly damaging Het
Phlpp1 T C 1: 106,320,049 (GRCm39) V1348A probably damaging Het
Pik3ap1 T C 19: 41,309,997 (GRCm39) D441G probably damaging Het
Pkd1l2 T C 8: 117,792,239 (GRCm39) probably null Het
Pla2g4a T C 1: 149,733,437 (GRCm39) probably null Het
Pola2 A T 19: 5,998,434 (GRCm39) I376N probably damaging Het
Pold2 T A 11: 5,826,833 (GRCm39) N34Y probably damaging Het
Ppp2r5c T C 12: 110,521,320 (GRCm39) L281P probably damaging Het
Prss46 A G 9: 110,678,703 (GRCm39) I29V probably benign Het
Ranbp6 A T 19: 29,788,846 (GRCm39) V502E probably benign Het
Rdh14 T C 12: 10,444,613 (GRCm39) F155L probably damaging Het
Rnaseh2a A T 8: 85,692,487 (GRCm39) probably null Het
Rpp30 A G 19: 36,071,785 (GRCm39) T118A possibly damaging Het
Rragd T C 4: 32,996,005 (GRCm39) F117L probably damaging Het
Rxylt1 A G 10: 121,926,384 (GRCm39) W243R probably damaging Het
S100a2 T A 3: 90,498,599 (GRCm39) probably null Het
Septin12 T C 16: 4,814,340 (GRCm39) K43R probably damaging Het
Sh3tc2 A G 18: 62,141,559 (GRCm39) E1080G probably damaging Het
Slc26a9 A G 1: 131,678,415 (GRCm39) K27R probably damaging Het
Spata17 T A 1: 186,926,191 (GRCm39) K46N probably damaging Het
St14 A C 9: 31,019,511 (GRCm39) D103E probably benign Het
St6galnac2 T A 11: 116,575,173 (GRCm39) Q222L possibly damaging Het
Tdrd9 T C 12: 112,002,844 (GRCm39) V831A probably damaging Het
Tert A G 13: 73,790,175 (GRCm39) E843G probably damaging Het
Tex21 A G 12: 76,251,044 (GRCm39) V464A probably benign Het
Tmem232 T A 17: 65,791,496 (GRCm39) H124L probably damaging Het
Tnfrsf19 T G 14: 61,242,555 (GRCm39) S110R probably damaging Het
Tnnt3 A T 7: 142,069,562 (GRCm39) K272* probably null Het
Tnxb T C 17: 34,930,477 (GRCm39) L2054P probably damaging Het
Trcg1 A C 9: 57,149,748 (GRCm39) D440A probably benign Het
Trpm3 A G 19: 22,878,585 (GRCm39) E504G probably damaging Het
Trpm5 C T 7: 142,636,626 (GRCm39) R437H probably benign Het
Ttn T C 2: 76,571,511 (GRCm39) R18134G probably damaging Het
Uchl5 A C 1: 143,674,160 (GRCm39) M64L possibly damaging Het
Urb1 G A 16: 90,550,751 (GRCm39) R2034W probably damaging Het
Usp44 T A 10: 93,683,048 (GRCm39) C452* probably null Het
Uvssa G A 5: 33,571,278 (GRCm39) A641T probably damaging Het
Vmn1r204 T A 13: 22,741,248 (GRCm39) I293N probably benign Het
Vmn2r84 A T 10: 130,225,137 (GRCm39) C458S probably benign Het
Vmn2r85 T G 10: 130,261,788 (GRCm39) H183P probably damaging Het
Vps13d G T 4: 144,832,431 (GRCm39) T2825K probably benign Het
Zc3hc1 T A 6: 30,376,024 (GRCm39) I179F probably benign Het
Zfp112 A G 7: 23,825,210 (GRCm39) N393D probably damaging Het
Zfp558 A G 9: 18,367,859 (GRCm39) S310P possibly damaging Het
Zfp560 A C 9: 20,260,071 (GRCm39) probably null Het
Zfp668 C T 7: 127,466,252 (GRCm39) E311K probably benign Het
Zfp763 T A 17: 33,252,276 (GRCm39) M1L probably benign Het
Zfp947 A T 17: 22,364,813 (GRCm39) M287K probably benign Het
Other mutations in Atp7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00932:Atp7b APN 8 22,501,114 (GRCm39) missense possibly damaging 0.91
IGL00981:Atp7b APN 8 22,517,543 (GRCm39) splice site probably null
IGL01600:Atp7b APN 8 22,517,541 (GRCm39) splice site probably null
IGL01713:Atp7b APN 8 22,518,589 (GRCm39) missense probably damaging 1.00
IGL01778:Atp7b APN 8 22,484,844 (GRCm39) missense probably benign 0.42
IGL01926:Atp7b APN 8 22,501,797 (GRCm39) missense probably damaging 0.98
IGL02312:Atp7b APN 8 22,484,786 (GRCm39) missense probably damaging 0.99
IGL02562:Atp7b APN 8 22,518,101 (GRCm39) missense probably benign
IGL02573:Atp7b APN 8 22,512,486 (GRCm39) missense probably benign 0.00
IGL02603:Atp7b APN 8 22,484,792 (GRCm39) missense possibly damaging 0.88
IGL02622:Atp7b APN 8 22,518,454 (GRCm39) missense possibly damaging 0.69
IGL02721:Atp7b APN 8 22,512,493 (GRCm39) missense probably benign 0.00
IGL03145:Atp7b APN 8 22,508,159 (GRCm39) missense probably damaging 1.00
daffodil UTSW 8 22,488,282 (GRCm39) missense probably damaging 1.00
menace UTSW 8 22,512,381 (GRCm39) missense probably damaging 0.97
PIT4131001:Atp7b UTSW 8 22,484,672 (GRCm39) missense probably damaging 1.00
R0023:Atp7b UTSW 8 22,501,089 (GRCm39) missense probably damaging 1.00
R0046:Atp7b UTSW 8 22,550,011 (GRCm39) missense probably benign 0.00
R0128:Atp7b UTSW 8 22,518,188 (GRCm39) missense possibly damaging 0.47
R0130:Atp7b UTSW 8 22,518,188 (GRCm39) missense possibly damaging 0.47
R0325:Atp7b UTSW 8 22,518,467 (GRCm39) missense probably benign 0.22
R0412:Atp7b UTSW 8 22,485,675 (GRCm39) splice site probably null
R0856:Atp7b UTSW 8 22,487,647 (GRCm39) missense probably damaging 1.00
R0906:Atp7b UTSW 8 22,517,842 (GRCm39) missense probably benign
R0989:Atp7b UTSW 8 22,518,710 (GRCm39) missense possibly damaging 0.51
R1377:Atp7b UTSW 8 22,501,801 (GRCm39) missense probably benign 0.17
R1517:Atp7b UTSW 8 22,487,374 (GRCm39) missense probably damaging 1.00
R1529:Atp7b UTSW 8 22,518,740 (GRCm39) missense possibly damaging 0.87
R1691:Atp7b UTSW 8 22,501,039 (GRCm39) missense possibly damaging 0.90
R1743:Atp7b UTSW 8 22,496,403 (GRCm39) missense probably damaging 1.00
R1815:Atp7b UTSW 8 22,501,667 (GRCm39) missense possibly damaging 0.80
R2008:Atp7b UTSW 8 22,517,996 (GRCm39) missense probably damaging 1.00
R2133:Atp7b UTSW 8 22,501,093 (GRCm39) missense probably damaging 1.00
R2155:Atp7b UTSW 8 22,503,600 (GRCm39) missense possibly damaging 0.69
R2182:Atp7b UTSW 8 22,504,563 (GRCm39) missense probably damaging 0.99
R2256:Atp7b UTSW 8 22,488,282 (GRCm39) missense probably damaging 1.00
R2257:Atp7b UTSW 8 22,488,282 (GRCm39) missense probably damaging 1.00
R2274:Atp7b UTSW 8 22,510,848 (GRCm39) missense probably benign 0.20
R2475:Atp7b UTSW 8 22,484,792 (GRCm39) missense possibly damaging 0.88
R2906:Atp7b UTSW 8 22,501,570 (GRCm39) missense probably damaging 1.00
R2907:Atp7b UTSW 8 22,501,570 (GRCm39) missense probably damaging 1.00
R3421:Atp7b UTSW 8 22,518,686 (GRCm39) missense probably damaging 1.00
R3422:Atp7b UTSW 8 22,518,686 (GRCm39) missense probably damaging 1.00
R3688:Atp7b UTSW 8 22,494,246 (GRCm39) missense probably damaging 1.00
R3945:Atp7b UTSW 8 22,510,880 (GRCm39) missense probably benign 0.02
R4235:Atp7b UTSW 8 22,501,039 (GRCm39) missense possibly damaging 0.90
R4700:Atp7b UTSW 8 22,490,137 (GRCm39) missense probably benign 0.00
R4701:Atp7b UTSW 8 22,490,137 (GRCm39) missense probably benign 0.00
R4877:Atp7b UTSW 8 22,518,617 (GRCm39) missense probably damaging 0.98
R4962:Atp7b UTSW 8 22,510,901 (GRCm39) missense probably damaging 1.00
R5009:Atp7b UTSW 8 22,517,714 (GRCm39) missense possibly damaging 0.88
R5016:Atp7b UTSW 8 22,505,885 (GRCm39) splice site probably null
R5038:Atp7b UTSW 8 22,518,472 (GRCm39) missense possibly damaging 0.67
R5438:Atp7b UTSW 8 22,504,570 (GRCm39) missense probably benign
R5467:Atp7b UTSW 8 22,501,570 (GRCm39) missense probably damaging 1.00
R5468:Atp7b UTSW 8 22,549,986 (GRCm39) critical splice donor site probably null
R5512:Atp7b UTSW 8 22,502,755 (GRCm39) missense probably benign 0.20
R5563:Atp7b UTSW 8 22,518,730 (GRCm39) missense possibly damaging 0.82
R5751:Atp7b UTSW 8 22,508,144 (GRCm39) missense probably damaging 1.00
R5773:Atp7b UTSW 8 22,517,879 (GRCm39) missense probably benign
R5941:Atp7b UTSW 8 22,487,512 (GRCm39) missense probably damaging 0.98
R6227:Atp7b UTSW 8 22,510,841 (GRCm39) missense possibly damaging 0.63
R6265:Atp7b UTSW 8 22,505,943 (GRCm39) nonsense probably null
R6290:Atp7b UTSW 8 22,510,836 (GRCm39) missense probably damaging 1.00
R6368:Atp7b UTSW 8 22,510,771 (GRCm39) splice site probably null
R6647:Atp7b UTSW 8 22,518,494 (GRCm39) missense probably damaging 1.00
R6788:Atp7b UTSW 8 22,494,391 (GRCm39) missense probably benign 0.37
R6830:Atp7b UTSW 8 22,512,381 (GRCm39) missense probably damaging 0.97
R6886:Atp7b UTSW 8 22,518,706 (GRCm39) missense probably benign 0.01
R6928:Atp7b UTSW 8 22,484,828 (GRCm39) missense probably benign
R6965:Atp7b UTSW 8 22,518,101 (GRCm39) missense probably benign
R7203:Atp7b UTSW 8 22,487,351 (GRCm39) missense probably damaging 1.00
R7222:Atp7b UTSW 8 22,512,394 (GRCm39) nonsense probably null
R7344:Atp7b UTSW 8 22,487,515 (GRCm39) missense probably damaging 1.00
R7384:Atp7b UTSW 8 22,512,331 (GRCm39) missense probably benign 0.01
R7449:Atp7b UTSW 8 22,501,865 (GRCm39) missense probably damaging 0.98
R7451:Atp7b UTSW 8 22,504,700 (GRCm39) nonsense probably null
R7607:Atp7b UTSW 8 22,501,522 (GRCm39) missense probably damaging 1.00
R8140:Atp7b UTSW 8 22,518,576 (GRCm39) missense probably damaging 1.00
R8160:Atp7b UTSW 8 22,487,575 (GRCm39) missense probably damaging 0.98
R8349:Atp7b UTSW 8 22,503,556 (GRCm39) missense probably damaging 1.00
R8421:Atp7b UTSW 8 22,518,487 (GRCm39) missense probably benign 0.01
R8449:Atp7b UTSW 8 22,503,556 (GRCm39) missense probably damaging 1.00
R8749:Atp7b UTSW 8 22,518,334 (GRCm39) missense probably damaging 0.96
R8989:Atp7b UTSW 8 22,510,911 (GRCm39) missense probably benign 0.06
R9210:Atp7b UTSW 8 22,487,406 (GRCm39) missense probably damaging 1.00
R9353:Atp7b UTSW 8 22,517,890 (GRCm39) missense possibly damaging 0.78
R9462:Atp7b UTSW 8 22,490,160 (GRCm39) missense probably damaging 0.99
R9485:Atp7b UTSW 8 22,502,778 (GRCm39) missense probably damaging 0.99
Z1176:Atp7b UTSW 8 22,518,730 (GRCm39) missense probably benign 0.07
Z1177:Atp7b UTSW 8 22,484,893 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGAGACATCAAGAGATGACCCCGAC -3'
(R):5'- TGTCCTTGGAGAACAAAACCGCC -3'

Sequencing Primer
(F):5'- GAGATGACCCCGACATATTTCAAAC -3'
(R):5'- CCAAATACAGTATGACCCTTCTTG -3'
Posted On 2014-04-13