Incidental Mutation 'R9210:Atp7b'
ID 698791
Institutional Source Beutler Lab
Gene Symbol Atp7b
Ensembl Gene ENSMUSG00000006567
Gene Name ATPase, Cu++ transporting, beta polypeptide
Synonyms Atp7a, WND, Wilson protein
MMRRC Submission 068983-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.636) question?
Stock # R9210 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 22482801-22550321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22487406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1303 (D1303G)
Ref Sequence ENSEMBL: ENSMUSP00000006742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006742] [ENSMUST00000110738]
AlphaFold Q64446
Predicted Effect probably damaging
Transcript: ENSMUST00000006742
AA Change: D1303G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006742
Gene: ENSMUSG00000006567
AA Change: D1303G

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: D1188G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106366
Gene: ENSMUSG00000006567
AA Change: D1188G

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (74/74)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A G 10: 76,287,165 (GRCm39) D40G probably damaging Het
Aass T C 6: 23,075,767 (GRCm39) D790G probably damaging Het
Abcb4 C T 5: 9,005,591 (GRCm39) P1158L probably damaging Het
Acod1 T C 14: 103,292,526 (GRCm39) V350A possibly damaging Het
Acot2 C A 12: 84,034,851 (GRCm39) P59Q probably damaging Het
Acyp1 A T 12: 85,326,820 (GRCm39) V10E possibly damaging Het
Adhfe1 A T 1: 9,637,036 (GRCm39) D396V possibly damaging Het
Agbl3 C T 6: 34,775,177 (GRCm39) T161I probably damaging Het
Ang6 T C 14: 44,239,407 (GRCm39) N107S probably benign Het
Arhgap28 A G 17: 68,162,430 (GRCm39) M639T probably benign Het
Arpc5 A G 1: 152,642,603 (GRCm39) D43G probably null Het
Asxl3 T C 18: 22,655,389 (GRCm39) I1133T probably benign Het
C2cd4b G A 9: 67,667,028 (GRCm39) R8H probably damaging Het
Catsper1 T A 19: 5,391,535 (GRCm39) V639E probably benign Het
Cbr1b A C 16: 93,427,127 (GRCm39) S243R possibly damaging Het
Ccdc113 T C 8: 96,283,874 (GRCm39) F316S probably damaging Het
Ccdc91 A G 6: 147,508,398 (GRCm39) I375V unknown Het
Cfap65 G A 1: 74,959,567 (GRCm39) T861I probably benign Het
Chd1 T G 17: 15,950,767 (GRCm39) S153A possibly damaging Het
Cln6 A G 9: 62,757,973 (GRCm39) H244R probably damaging Het
Cnn2 A T 10: 79,828,373 (GRCm39) M117L probably benign Het
Col19a1 A T 1: 24,500,555 (GRCm39) probably null Het
Csgalnact1 T C 8: 68,914,241 (GRCm39) probably benign Het
Dhx57 T G 17: 80,576,338 (GRCm39) D584A probably damaging Het
Dnaaf2 G A 12: 69,244,602 (GRCm39) A153V probably damaging Het
Egfem1 T G 3: 29,207,743 (GRCm39) C144W probably damaging Het
Ercc6 T A 14: 32,291,822 (GRCm39) I1062N probably benign Het
Ermap A T 4: 119,035,706 (GRCm39) C427* probably null Het
Fam193a T C 5: 34,597,481 (GRCm39) V94A probably benign Het
Fbxl14 T C 6: 119,457,635 (GRCm39) M272T probably benign Het
Grm7 T A 6: 110,622,869 (GRCm39) M14K probably benign Het
Herc6 A G 6: 57,639,350 (GRCm39) Y906C probably damaging Het
Hps4 C A 5: 112,497,227 (GRCm39) T70N possibly damaging Het
Hspg2 A G 4: 137,289,790 (GRCm39) H3880R probably benign Het
Hus1b A C 13: 31,130,858 (GRCm39) I267S possibly damaging Het
Igkv13-84 G T 6: 68,916,886 (GRCm39) G61V probably damaging Het
Mrgprb2 A T 7: 48,202,392 (GRCm39) V111D possibly damaging Het
Mta3 A T 17: 84,015,846 (GRCm39) N16I probably damaging Het
Mtus2 T A 5: 148,014,124 (GRCm39) S306T probably benign Het
Ncl G A 1: 86,280,239 (GRCm39) P523S probably benign Het
Npepps G T 11: 97,129,047 (GRCm39) A379E probably damaging Het
Ntng1 A T 3: 109,779,633 (GRCm39) C315S probably damaging Het
Nyap2 C T 1: 81,219,042 (GRCm39) P355S probably damaging Het
Or5p54 C A 7: 107,554,017 (GRCm39) H56Q probably benign Het
Orc2 A G 1: 58,515,695 (GRCm39) L271P probably damaging Het
Pck2 G A 14: 55,779,907 (GRCm39) R52H probably benign Het
Pikfyve T C 1: 65,291,719 (GRCm39) S1313P probably damaging Het
Pink1 A G 4: 138,053,278 (GRCm39) F85L probably benign Het
Ppp2r3d T C 9: 101,063,175 (GRCm39) T154A probably benign Het
Prkg2 T C 5: 99,095,333 (GRCm39) T613A probably damaging Het
Ptprz1 A G 6: 23,050,493 (GRCm39) M2254V probably damaging Het
Rabgap1 T C 2: 37,377,152 (GRCm39) V328A probably damaging Het
Rag1 T C 2: 101,474,852 (GRCm39) S97G probably benign Het
Rai1 C T 11: 60,080,217 (GRCm39) P1427L probably benign Het
Rrp15 G C 1: 186,471,922 (GRCm39) A95G probably damaging Het
Rttn T C 18: 89,064,286 (GRCm39) probably null Het
Ryr2 A C 13: 11,844,560 (GRCm39) I392S probably damaging Het
Scoc T C 8: 84,162,543 (GRCm39) K121R possibly damaging Het
Septin5 A T 16: 18,442,961 (GRCm39) I206K possibly damaging Het
Sh2d2a C A 3: 87,756,655 (GRCm39) L167I probably damaging Het
Slc5a2 C A 7: 127,867,939 (GRCm39) Q202K probably damaging Het
Slco4a1 A T 2: 180,114,271 (GRCm39) S518C probably damaging Het
Tbc1d2b A T 9: 90,087,183 (GRCm39) L932Q possibly damaging Het
Tex15 T A 8: 34,064,319 (GRCm39) Y1250N possibly damaging Het
Tln1 G T 4: 43,536,119 (GRCm39) T2022K probably damaging Het
Trpc4 T A 3: 54,173,741 (GRCm39) F378L probably benign Het
Ush2a A T 1: 188,516,866 (GRCm39) Q3192L probably null Het
Usp40 A T 1: 87,885,035 (GRCm39) W938R possibly damaging Het
Wdr24 T C 17: 26,043,472 (GRCm39) V98A probably benign Het
Zfp280d A G 9: 72,269,789 (GRCm39) *975W probably null Het
Zfp317 A T 9: 19,558,442 (GRCm39) K219* probably null Het
Zfp986 A G 4: 145,625,798 (GRCm39) K153E probably benign Het
Zmiz2 T A 11: 6,346,277 (GRCm39) S71T possibly damaging 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
R1521:Atp7b UTSW 8 22,517,689 (GRCm39) missense probably damaging 0.96
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
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'- AGTTCACCAGGGATACAGCAG -3'
(R):5'- GGTCCAGGAGCTTCAGAATG -3'

Sequencing Primer
(F):5'- CCAGGGATACAGCAGAGACC -3'
(R):5'- TGAATGACTCCCCAGCCCTG -3'
Posted On 2022-02-07