Incidental Mutation 'R9246:Atp2c2'
ID 701306
Institutional Source Beutler Lab
Gene Symbol Atp2c2
Ensembl Gene ENSMUSG00000034112
Gene Name ATPase, Ca++ transporting, type 2C, member 2
Synonyms 1810010G06Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9246 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 120426748-120484456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 120456989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 197 (R197L)
Ref Sequence ENSEMBL: ENSMUSP00000092794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095171] [ENSMUST00000212454]
AlphaFold A7L9Z8
Predicted Effect probably damaging
Transcript: ENSMUST00000095171
AA Change: R197L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: R197L

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
Predicted Effect probably benign
Transcript: ENSMUST00000212454
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,279,961 (GRCm39) T314I probably benign Het
Abca7 G A 10: 79,838,535 (GRCm39) S603N probably damaging Het
Abcc2 T C 19: 43,786,882 (GRCm39) F168L probably benign Het
Abcc8 T C 7: 45,774,289 (GRCm39) T764A probably benign Het
Acot4 A C 12: 84,090,097 (GRCm39) I265L probably benign Het
Adrb2 C A 18: 62,312,226 (GRCm39) A200S probably damaging Het
Bmpr1a T C 14: 34,156,664 (GRCm39) T121A probably benign Het
Brwd1 A T 16: 95,804,016 (GRCm39) S2051R probably benign Het
Card10 T C 15: 78,673,036 (GRCm39) E547G possibly damaging Het
Cbln1 A T 8: 88,197,048 (GRCm39) I139N probably damaging Het
Ccdc86 CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA 19: 10,926,162 (GRCm39) probably benign Het
Cdh16 C T 8: 105,344,602 (GRCm39) D510N probably benign Het
Cdh2 G A 18: 16,781,654 (GRCm39) Q146* probably null Het
Cdhr1 T G 14: 36,801,654 (GRCm39) K763T possibly damaging Het
Cfl1 G C 19: 5,543,634 (GRCm39) G204R probably damaging Het
Clcn6 A T 4: 148,113,866 (GRCm39) V64E probably benign Het
Col4a4 G A 1: 82,430,956 (GRCm39) P1649S unknown Het
Ctnna1 T A 18: 35,356,562 (GRCm39) N410K probably benign Het
Dhx34 A G 7: 15,937,162 (GRCm39) F845S probably damaging Het
Dnah7c T G 1: 46,571,934 (GRCm39) N802K possibly damaging Het
Dnmt3a T C 12: 3,949,204 (GRCm39) S492P probably damaging Het
Fhit C A 14: 10,421,494 (GRCm38) probably null Het
Fzd2 A T 11: 102,496,749 (GRCm39) I398F possibly damaging Het
Gm9195 A G 14: 72,710,314 (GRCm39) S457P probably benign Het
Gnao1 A G 8: 94,676,967 (GRCm39) K211E Het
Gzme T C 14: 56,356,198 (GRCm39) D100G probably benign Het
Hook3 T C 8: 26,562,319 (GRCm39) T249A probably benign Het
Hoxd4 G A 2: 74,558,747 (GRCm39) C190Y possibly damaging Het
Hr T A 14: 70,808,915 (GRCm39) V1097E probably damaging Het
Iqca1l T G 5: 24,753,969 (GRCm39) E430A probably benign Het
Kdm3b A T 18: 34,941,480 (GRCm39) K524* probably null Het
Kif18a A G 2: 109,163,819 (GRCm39) T723A probably benign Het
Kif1a A G 1: 93,005,501 (GRCm39) V91A probably damaging Het
Krtap19-2 AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA AAAGCCTCCA 16: 88,670,859 (GRCm39) probably benign Het
Lama3 G A 18: 12,710,959 (GRCm39) V1559M probably damaging Het
Maco1 A G 4: 134,565,242 (GRCm39) V47A possibly damaging Het
Msto1 A T 3: 88,819,411 (GRCm39) I160N probably damaging Het
Muc5ac C A 7: 141,364,215 (GRCm39) Q2509K probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Or1ad8 T A 11: 50,897,891 (GRCm39) F31I probably damaging Het
Or2ag2b C T 7: 106,417,938 (GRCm39) T216I probably benign Het
Or52ad1 C T 7: 102,995,908 (GRCm39) V76I probably damaging Het
Or7e170 T C 9: 19,795,686 (GRCm39) probably benign Het
Or8k21 A T 2: 86,145,222 (GRCm39) M136K probably damaging Het
Pik3c3 C A 18: 30,466,364 (GRCm39) A805D probably damaging Het
Pnn A G 12: 59,116,929 (GRCm39) Q167R probably damaging Het
Pogk G T 1: 166,226,380 (GRCm39) H590Q probably damaging Het
Prkcd A G 14: 30,327,432 (GRCm39) L251P probably damaging Het
Prrc1 T A 18: 57,496,208 (GRCm39) V53E probably benign Het
Ripor1 T C 8: 106,345,522 (GRCm39) F856S unknown Het
Rnf31 G A 14: 55,833,698 (GRCm39) A569T probably benign Het
Robo1 T A 16: 72,769,178 (GRCm39) D532E probably benign Het
Sh2d6 T A 6: 72,497,594 (GRCm39) K3* probably null Het
Slc22a27 T C 19: 7,874,209 (GRCm39) T289A probably benign Het
Speg T C 1: 75,361,498 (GRCm39) S171P probably damaging Het
Stag1 T A 9: 100,770,329 (GRCm39) F622I probably benign Het
Stxbp1 T C 2: 32,679,586 (GRCm39) D589G possibly damaging Het
Syne1 T C 10: 5,255,706 (GRCm39) I2391M probably benign Het
Sytl2 A G 7: 90,007,384 (GRCm39) M49V probably benign Het
Tmem185b T C 1: 119,454,368 (GRCm39) V43A probably damaging Het
Trappc8 A T 18: 20,993,590 (GRCm39) M499K possibly damaging Het
Vmn1r172 T A 7: 23,359,593 (GRCm39) S159R possibly damaging Het
Vmn1r62 A G 7: 5,678,628 (GRCm39) Y103C probably damaging Het
Vmn1r65 C T 7: 6,011,769 (GRCm39) C155Y possibly damaging Het
Vmn2r112 G A 17: 22,824,088 (GRCm39) V448I probably benign Het
Zfp592 A T 7: 80,691,529 (GRCm39) D1236V probably benign Het
Zfp827 T C 8: 79,803,132 (GRCm39) V568A possibly damaging Het
Zscan4-ps3 A T 7: 11,346,320 (GRCm39) I147F probably damaging Het
Other mutations in Atp2c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Atp2c2 APN 8 120,472,329 (GRCm39) missense probably benign
IGL01624:Atp2c2 APN 8 120,484,189 (GRCm39) missense probably benign 0.00
IGL02133:Atp2c2 APN 8 120,481,074 (GRCm39) missense probably benign 0.00
IGL02221:Atp2c2 APN 8 120,471,073 (GRCm39) missense probably damaging 1.00
IGL02606:Atp2c2 APN 8 120,457,013 (GRCm39) missense probably benign
IGL02657:Atp2c2 APN 8 120,479,771 (GRCm39) missense probably damaging 1.00
IGL02839:Atp2c2 APN 8 120,475,859 (GRCm39) missense possibly damaging 0.85
IGL03122:Atp2c2 APN 8 120,469,414 (GRCm39) missense possibly damaging 0.77
R0031:Atp2c2 UTSW 8 120,475,801 (GRCm39) missense probably benign 0.15
R0372:Atp2c2 UTSW 8 120,484,180 (GRCm39) missense probably benign
R0502:Atp2c2 UTSW 8 120,461,316 (GRCm39) missense probably null 0.99
R0503:Atp2c2 UTSW 8 120,461,316 (GRCm39) missense probably null 0.99
R0584:Atp2c2 UTSW 8 120,465,157 (GRCm39) missense probably benign 0.01
R1225:Atp2c2 UTSW 8 120,461,984 (GRCm39) missense probably damaging 1.00
R1580:Atp2c2 UTSW 8 120,479,726 (GRCm39) missense probably benign 0.00
R1620:Atp2c2 UTSW 8 120,475,865 (GRCm39) missense probably benign
R1638:Atp2c2 UTSW 8 120,482,742 (GRCm39) missense possibly damaging 0.82
R1745:Atp2c2 UTSW 8 120,451,833 (GRCm39) missense probably benign 0.02
R1746:Atp2c2 UTSW 8 120,461,182 (GRCm39) unclassified probably benign
R1907:Atp2c2 UTSW 8 120,476,615 (GRCm39) splice site probably benign
R2104:Atp2c2 UTSW 8 120,476,584 (GRCm39) missense probably benign
R2151:Atp2c2 UTSW 8 120,482,841 (GRCm39) missense probably benign
R2152:Atp2c2 UTSW 8 120,482,841 (GRCm39) missense probably benign
R2154:Atp2c2 UTSW 8 120,482,841 (GRCm39) missense probably benign
R2207:Atp2c2 UTSW 8 120,475,048 (GRCm39) missense probably damaging 1.00
R3874:Atp2c2 UTSW 8 120,462,035 (GRCm39) missense possibly damaging 0.74
R3912:Atp2c2 UTSW 8 120,448,015 (GRCm39) missense probably damaging 1.00
R4093:Atp2c2 UTSW 8 120,476,610 (GRCm39) critical splice donor site probably null
R4782:Atp2c2 UTSW 8 120,475,891 (GRCm39) missense probably damaging 0.97
R4801:Atp2c2 UTSW 8 120,474,426 (GRCm39) missense probably damaging 1.00
R4973:Atp2c2 UTSW 8 120,481,002 (GRCm39) missense probably benign 0.00
R5485:Atp2c2 UTSW 8 120,479,801 (GRCm39) critical splice donor site probably null
R5978:Atp2c2 UTSW 8 120,476,614 (GRCm39) splice site probably null
R6377:Atp2c2 UTSW 8 120,453,093 (GRCm39) missense probably benign 0.10
R6613:Atp2c2 UTSW 8 120,482,760 (GRCm39) missense probably damaging 0.99
R6765:Atp2c2 UTSW 8 120,479,756 (GRCm39) missense probably damaging 1.00
R6836:Atp2c2 UTSW 8 120,461,154 (GRCm39) missense probably damaging 1.00
R6963:Atp2c2 UTSW 8 120,457,006 (GRCm39) nonsense probably null
R7220:Atp2c2 UTSW 8 120,472,300 (GRCm39) missense probably benign 0.00
R7238:Atp2c2 UTSW 8 120,469,160 (GRCm39) missense possibly damaging 0.73
R7373:Atp2c2 UTSW 8 120,456,991 (GRCm39) missense probably benign 0.02
R7438:Atp2c2 UTSW 8 120,474,936 (GRCm39) missense probably damaging 1.00
R7573:Atp2c2 UTSW 8 120,478,008 (GRCm39) missense probably damaging 1.00
R7677:Atp2c2 UTSW 8 120,474,915 (GRCm39) missense probably benign 0.00
R7737:Atp2c2 UTSW 8 120,469,134 (GRCm39) missense probably damaging 1.00
R7912:Atp2c2 UTSW 8 120,456,917 (GRCm39) missense possibly damaging 0.81
R8821:Atp2c2 UTSW 8 120,476,033 (GRCm39) splice site probably null
R8831:Atp2c2 UTSW 8 120,476,033 (GRCm39) splice site probably null
R9200:Atp2c2 UTSW 8 120,474,999 (GRCm39) nonsense probably null
R9211:Atp2c2 UTSW 8 120,446,032 (GRCm39) missense probably benign
R9285:Atp2c2 UTSW 8 120,465,141 (GRCm39) missense probably benign 0.00
RF004:Atp2c2 UTSW 8 120,479,561 (GRCm39) missense probably damaging 1.00
RF012:Atp2c2 UTSW 8 120,472,253 (GRCm39) missense possibly damaging 0.91
Z1177:Atp2c2 UTSW 8 120,461,124 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTACAAAGTAGGGCTGTAAAGTCTGG -3'
(R):5'- GACCATTGTTGACCATGGGTAAC -3'

Sequencing Primer
(F):5'- AAAGTCTGGAGAGTCTGCCTGC -3'
(R):5'- TTGACCATGGGTAACAATCTGG -3'
Posted On 2022-03-25