Incidental Mutation 'R3435:Atp7a'
Institutional Source Beutler Lab
Gene Symbol Atp7a
Ensembl Gene ENSMUSG00000033792
Gene NameATPase, Cu++ transporting, alpha polypeptide
SynonymsMNK, br, Menkes protein
MMRRC Submission 040653-MU
Accession Numbers

Genbank: NM_009726; MGI: 99400

Is this an essential gene? Probably essential (E-score: 0.752) question?
Stock #R3435 (G1)
Quality Score222
Status Validated
Chromosomal Location106027276-106124926 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 106094857 bp
Amino Acid Change Arginine to Lysine at position 563 (R563K)
Ref Sequence ENSEMBL: ENSMUSP00000058840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055941] [ENSMUST00000113557]
Predicted Effect probably benign
Transcript: ENSMUST00000055941
AA Change: R563K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000058840
Gene: ENSMUSG00000033792
AA Change: R563K

Pfam:HMA 11 72 1.8e-16 PFAM
Pfam:HMA 174 235 3.2e-14 PFAM
Pfam:HMA 280 342 1.5e-15 PFAM
low complexity region 348 362 N/A INTRINSIC
Pfam:HMA 380 441 1.2e-17 PFAM
Pfam:HMA 484 544 6.7e-14 PFAM
Pfam:HMA 559 620 7.3e-15 PFAM
transmembrane domain 644 666 N/A INTRINSIC
low complexity region 698 713 N/A INTRINSIC
Pfam:E1-E2_ATPase 777 1025 1.4e-62 PFAM
Pfam:Hydrolase 1030 1305 1.4e-66 PFAM
Pfam:HAD 1033 1302 3.3e-12 PFAM
Pfam:Hydrolase_3 1273 1337 6.2e-7 PFAM
transmembrane domain 1351 1373 N/A INTRINSIC
transmembrane domain 1377 1399 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113557
AA Change: R562K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109186
Gene: ENSMUSG00000033792
AA Change: R562K

Pfam:HMA 11 72 2.7e-14 PFAM
Pfam:HMA 174 235 2e-13 PFAM
Pfam:HMA 280 344 2.4e-14 PFAM
low complexity region 348 362 N/A INTRINSIC
Pfam:HMA 380 441 5.1e-16 PFAM
Pfam:HMA 482 543 1.9e-12 PFAM
Pfam:HMA 558 619 1.8e-14 PFAM
transmembrane domain 643 665 N/A INTRINSIC
low complexity region 697 712 N/A INTRINSIC
Pfam:E1-E2_ATPase 777 1025 2.2e-51 PFAM
Pfam:Hydrolase 1029 1304 3.9e-76 PFAM
Pfam:HAD 1032 1301 4.5e-14 PFAM
Pfam:Hydrolase_3 1272 1336 2.1e-6 PFAM
transmembrane domain 1350 1372 N/A INTRINSIC
transmembrane domain 1376 1398 N/A INTRINSIC
Meta Mutation Damage Score 0.1132 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (33/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mutations in this gene affect copper metabolism and, depending on the allele, result in abnormal pigmentation, vibrissae, hair, and skeleton. Behavior may be abnormal and defects of collagen and elastin fibers are reported. Some alleles are hemizygous lethal. [provided by MGI curators]
Allele List at MGI
All alleles(88) : Targeted, other(2) Gene trapped(48) Spontaneous(23) Chemically induced(9) Radiation induced(8)
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A C 2: 68,601,845 D91A unknown Het
Abca9 T C 11: 110,154,430 E359G probably benign Het
Dnah1 T C 14: 31,316,674 D150G probably damaging Het
Fam47e T A 5: 92,585,362 V152D probably damaging Het
Gm19965 C A 1: 116,821,623 H345N possibly damaging Het
Ift74 A G 4: 94,621,852 probably null Het
Iqgap3 A G 3: 88,094,604 I384V probably benign Het
Lrrc57 T A 2: 120,609,381 probably benign Het
Mafk C T 5: 139,800,307 Q87* probably null Het
Mast2 A T 4: 116,308,095 S1314T probably benign Het
Mast4 A G 13: 102,787,379 I508T probably damaging Het
Mdn1 T C 4: 32,733,726 probably null Het
Mup6 G T 4: 60,004,116 probably null Het
Neurl1a T C 19: 47,257,525 V532A probably damaging Het
Nod2 A G 8: 88,664,009 R293G possibly damaging Het
Notch3 A T 17: 32,158,618 D161E possibly damaging Het
Olfr3 T A 2: 36,812,678 Q138L probably benign Het
Osbpl3 A T 6: 50,348,070 N149K possibly damaging Het
P2rx4 T A 5: 122,725,070 I202K probably damaging Het
Pbxip1 T C 3: 89,447,236 L354P probably damaging Het
Pld1 A T 3: 28,124,623 M889L probably benign Het
Ppp2r2b T A 18: 42,741,109 Q52L possibly damaging Het
Prob1 T C 18: 35,654,241 E320G possibly damaging Het
Stard13 A T 5: 151,042,179 L937Q probably damaging Het
Strn4 T C 7: 16,837,633 S563P possibly damaging Het
Syne1 T C 10: 5,348,565 D1114G probably damaging Het
Tmem117 T C 15: 95,094,692 I411T probably damaging Het
Tmx3 T A 18: 90,527,904 V203E probably damaging Het
Ttn T C 2: 76,878,718 probably benign Het
Vmn1r209 A T 13: 22,806,097 M141K probably benign Het
Other mutations in Atp7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Atp7a APN X 106109830 missense probably damaging 0.97
IGL02023:Atp7a APN X 106094982 missense probably damaging 0.99
IGL02597:Atp7a APN X 106069888 missense probably benign 0.44
IGL03285:Atp7a APN X 106109775 missense probably benign
brown UTSW X 106088491 missense probably damaging 1.00
Golden UTSW X unclassified
Silver UTSW X unclassified
Tigrou UTSW X 106088407 missense probably benign 0.04
Tigrou-like UTSW X 106105250 missense probably damaging 1.00
Ups UTSW X 106088491 missense probably damaging 1.00
R0240:Atp7a UTSW X 106109841 missense probably damaging 1.00
R0240:Atp7a UTSW X 106109841 missense probably damaging 1.00
R3434:Atp7a UTSW X 106094857 missense probably benign 0.00
R3756:Atp7a UTSW X 106101843 splice site probably null
R4911:Atp7a UTSW X 106120374 missense probably damaging 0.99
R5072:Atp7a UTSW X 106109768 missense probably benign
R5073:Atp7a UTSW X 106109768 missense probably benign
R5074:Atp7a UTSW X 106109768 missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-02-18