Incidental Mutation 'IGL00966:Atp2c2'
ID28068
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp2c2
Ensembl Gene ENSMUSG00000034112
Gene NameATPase, Ca++ transporting, type 2C, member 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00966
Quality Score
Status
Chromosome8
Chromosomal Location119700009-119757717 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 119745590 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 461 (V461A)
Ref Sequence ENSEMBL: ENSMUSP00000092794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095171]
Predicted Effect probably benign
Transcript: ENSMUST00000095171
AA Change: V461A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: V461A

DomainStartEndE-ValueType
Cation_ATPase_N 54 128 1.27e-12 SMART
Pfam:E1-E2_ATPase 133 366 1.7e-62 PFAM
Pfam:Hydrolase 371 684 5.3e-18 PFAM
Pfam:HAD 374 681 7.4e-11 PFAM
Pfam:Cation_ATPase 437 521 1.1e-17 PFAM
Pfam:Cation_ATPase_C 754 927 1.1e-47 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932431P20Rik C A 7: 29,537,463 noncoding transcript Het
5430419D17Rik T A 7: 131,243,107 Y692* probably null Het
Acad11 A G 9: 104,126,656 E649G probably damaging Het
Adgre1 C A 17: 57,419,335 T402K probably benign Het
Agap3 A G 5: 24,501,002 probably benign Het
Amy1 T C 3: 113,556,040 I494V probably benign Het
Arhgef40 G A 14: 51,991,698 probably null Het
Bub1 A G 2: 127,810,663 S595P probably damaging Het
Cmya5 C T 13: 93,097,906 V225I probably benign Het
Cnbd1 T C 4: 18,906,988 probably benign Het
Cux1 A T 5: 136,311,491 probably benign Het
Dsg3 T A 18: 20,523,607 I178N probably benign Het
Dus2 T A 8: 106,025,901 probably null Het
Enpp1 G A 10: 24,654,031 H570Y probably damaging Het
Ephb3 A C 16: 21,217,294 T57P probably benign Het
Fat3 C A 9: 15,999,094 V1871F possibly damaging Het
Fbll1 T C 11: 35,798,047 T130A probably benign Het
Fbxl20 C T 11: 98,110,974 S99N probably damaging Het
Folr2 T C 7: 101,840,386 E182G probably damaging Het
Fras1 A G 5: 96,555,221 D281G probably benign Het
Gm17175 G T 14: 51,573,069 Q34K possibly damaging Het
Gm5592 T A 7: 41,289,095 D600E probably damaging Het
Gtf2e1 T C 16: 37,515,730 E294G probably benign Het
Gtf3c2 A G 5: 31,170,173 probably benign Het
Heg1 T C 16: 33,710,607 L151P probably damaging Het
Hmcn2 T G 2: 31,428,994 V3902G probably damaging Het
Ift140 A G 17: 25,018,802 Y4C probably damaging Het
Ighv1-19 A C 12: 114,708,949 V17G possibly damaging Het
Iqca T A 1: 90,045,657 I770F probably benign Het
Jak3 T A 8: 71,679,012 C115S probably benign Het
Kif18b A T 11: 102,914,675 M252K probably damaging Het
Klhdc7a A T 4: 139,966,925 V237D probably benign Het
Klhl11 C T 11: 100,463,205 V597I possibly damaging Het
Krt72 T A 15: 101,780,961 Y312F probably damaging Het
Lonp2 T A 8: 86,633,972 I191N probably damaging Het
Npc2 A T 12: 84,772,845 I8N possibly damaging Het
Nr4a1 T C 15: 101,272,788 L413P probably damaging Het
Nup133 T C 8: 123,911,906 N895S probably damaging Het
Olfr869 T C 9: 20,137,235 F40L probably benign Het
Ppef1 A G X: 160,685,294 I94T probably benign Het
Prrt4 G A 6: 29,176,456 T290I probably benign Het
Ptpru A T 4: 131,772,616 V1239E probably damaging Het
Rab8b T G 9: 66,852,992 M117L probably benign Het
S1pr5 T A 9: 21,244,216 I305F possibly damaging Het
Sdr39u1 A G 14: 55,898,006 V160A probably damaging Het
Slc6a21 C T 7: 45,288,244 T653M probably benign Het
Stk39 T A 2: 68,211,958 E544D probably benign Het
Tgfbr3 T C 5: 107,142,501 T313A probably benign Het
Tle6 A T 10: 81,594,458 L287M probably damaging Het
Tmc2 A G 2: 130,264,012 H821R probably benign Het
Tmem230 G T 2: 132,245,977 D26E probably benign Het
Tnfaip3 A G 10: 19,005,137 F394S probably damaging Het
Ttn T A 2: 76,811,377 L13458F probably damaging Het
Vwa5a A T 9: 38,723,379 N161I probably benign Het
Other mutations in Atp2c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01624:Atp2c2 APN 8 119757450 missense probably benign 0.00
IGL02133:Atp2c2 APN 8 119754335 missense probably benign 0.00
IGL02221:Atp2c2 APN 8 119744334 missense probably damaging 1.00
IGL02606:Atp2c2 APN 8 119730274 missense probably benign
IGL02657:Atp2c2 APN 8 119753032 missense probably damaging 1.00
IGL02839:Atp2c2 APN 8 119749120 missense possibly damaging 0.85
IGL03122:Atp2c2 APN 8 119742675 missense possibly damaging 0.77
R0031:Atp2c2 UTSW 8 119749062 missense probably benign 0.15
R0372:Atp2c2 UTSW 8 119757441 missense probably benign
R0502:Atp2c2 UTSW 8 119734577 missense probably null 0.99
R0503:Atp2c2 UTSW 8 119734577 missense probably null 0.99
R0584:Atp2c2 UTSW 8 119738418 missense probably benign 0.01
R1225:Atp2c2 UTSW 8 119735245 missense probably damaging 1.00
R1580:Atp2c2 UTSW 8 119752987 missense probably benign 0.00
R1620:Atp2c2 UTSW 8 119749126 missense probably benign
R1638:Atp2c2 UTSW 8 119756003 missense possibly damaging 0.82
R1745:Atp2c2 UTSW 8 119725094 missense probably benign 0.02
R1746:Atp2c2 UTSW 8 119734443 unclassified probably benign
R1907:Atp2c2 UTSW 8 119749876 splice site probably benign
R2104:Atp2c2 UTSW 8 119749845 missense probably benign
R2151:Atp2c2 UTSW 8 119756102 missense probably benign
R2152:Atp2c2 UTSW 8 119756102 missense probably benign
R2154:Atp2c2 UTSW 8 119756102 missense probably benign
R2207:Atp2c2 UTSW 8 119748309 missense probably damaging 1.00
R3874:Atp2c2 UTSW 8 119735296 missense possibly damaging 0.74
R3912:Atp2c2 UTSW 8 119721276 missense probably damaging 1.00
R4093:Atp2c2 UTSW 8 119749871 critical splice donor site probably null
R4782:Atp2c2 UTSW 8 119749152 missense probably damaging 0.97
R4801:Atp2c2 UTSW 8 119747687 missense probably damaging 1.00
R4973:Atp2c2 UTSW 8 119754263 missense probably benign 0.00
R5485:Atp2c2 UTSW 8 119753062 critical splice donor site probably null
R5978:Atp2c2 UTSW 8 119749875 splice site probably null
R6377:Atp2c2 UTSW 8 119726354 missense probably benign 0.10
R6613:Atp2c2 UTSW 8 119756021 missense probably damaging 0.99
R6765:Atp2c2 UTSW 8 119753017 missense probably damaging 1.00
R6836:Atp2c2 UTSW 8 119734415 missense probably damaging 1.00
R6963:Atp2c2 UTSW 8 119730267 nonsense probably null
R7220:Atp2c2 UTSW 8 119745561 missense probably benign 0.00
R7238:Atp2c2 UTSW 8 119742421 missense possibly damaging 0.73
R7373:Atp2c2 UTSW 8 119730252 missense probably benign 0.02
R7438:Atp2c2 UTSW 8 119748197 missense probably damaging 1.00
Posted On2013-04-17