Incidental Mutation 'R9003:Atp10a'
ID 685090
Institutional Source Beutler Lab
Gene Symbol Atp10a
Ensembl Gene ENSMUSG00000025324
Gene Name ATPase, class V, type 10A
Synonyms pfatp, Atp10c
MMRRC Submission 068833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R9003 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 58305914-58479168 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58457203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 901 (W901R)
Ref Sequence ENSEMBL: ENSMUSP00000129811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168747]
AlphaFold O54827
Predicted Effect probably damaging
Transcript: ENSMUST00000168747
AA Change: W901R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: W901R

DomainStartEndE-ValueType
low complexity region 15 32 N/A INTRINSIC
Pfam:PhoLip_ATPase_N 55 114 5.2e-23 PFAM
Pfam:E1-E2_ATPase 120 393 6.6e-10 PFAM
low complexity region 633 643 N/A INTRINSIC
Pfam:Cation_ATPase 685 791 1.5e-7 PFAM
Pfam:HAD 697 1054 2.1e-12 PFAM
Pfam:PhoLip_ATPase_C 1071 1316 1.1e-76 PFAM
low complexity region 1458 1477 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]
PHENOTYPE: Disruption of this gene at the distal end of the p23DFiOD deletion may be responsible for the obesity phenotypes associated with that deletion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,850,013 (GRCm39) H917Y possibly damaging Het
Acot4 A G 12: 84,089,969 (GRCm39) K222R possibly damaging Het
Akap12 A G 10: 4,306,744 (GRCm39) S1290G probably benign Het
Arid1a T C 4: 133,411,799 (GRCm39) I1311V unknown Het
Asf1b G T 8: 84,682,530 (GRCm39) E25* probably null Het
Aurkc T A 7: 6,999,547 (GRCm39) I18N probably damaging Het
Carmil2 A G 8: 106,423,905 (GRCm39) T1253A probably damaging Het
Ccdc146 T C 5: 21,508,132 (GRCm39) T639A possibly damaging Het
Cdca4 A G 12: 112,785,659 (GRCm39) V23A probably benign Het
Chpt1 A G 10: 88,312,943 (GRCm39) F290L probably damaging Het
Clca3b C T 3: 144,533,072 (GRCm39) W653* probably null Het
Coa8 A G 12: 111,688,189 (GRCm39) *45W probably null Het
Cpb2 A T 14: 75,479,868 (GRCm39) probably benign Het
Cul9 A G 17: 46,836,001 (GRCm39) V1215A possibly damaging Het
Cxxc4 A T 3: 133,945,431 (GRCm39) N4I unknown Het
Eps8l1 G T 7: 4,464,016 (GRCm39) V47F possibly damaging Het
Exoc6 T C 19: 37,587,097 (GRCm39) I537T probably damaging Het
Fbn2 T C 18: 58,176,591 (GRCm39) Y2040C probably damaging Het
Gfm2 T G 13: 97,282,889 (GRCm39) probably benign Het
Jak2 A T 19: 29,254,240 (GRCm39) M187L probably benign Het
Kif5b A G 18: 6,224,047 (GRCm39) V247A probably benign Het
Klhl22 T C 16: 17,589,612 (GRCm39) V91A probably damaging Het
Ldhd T C 8: 112,356,894 (GRCm39) S17G probably benign Het
Madd C A 2: 90,988,359 (GRCm39) E1223* probably null Het
Mecom T C 3: 30,034,639 (GRCm39) I346V probably benign Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Nek4 C T 14: 30,704,471 (GRCm39) T662M probably benign Het
Or10g3b T A 14: 52,586,768 (GRCm39) H245L probably damaging Het
Or2y1b C T 11: 49,209,155 (GRCm39) P261S possibly damaging Het
Or4c117 T A 2: 88,956,024 (GRCm39) Q17L possibly damaging Het
Or4k42 A G 2: 111,320,411 (GRCm39) F31L probably benign Het
Or5ac19 A T 16: 59,089,263 (GRCm39) F256I probably benign Het
Or8c18 C T 9: 38,203,343 (GRCm39) T34I probably benign Het
Phc3 G A 3: 31,020,007 (GRCm39) T19I possibly damaging Het
Pla2g4e T A 2: 120,007,282 (GRCm39) Q472L probably benign Het
Plcg2 C T 8: 118,342,002 (GRCm39) T1121I Het
Plin2 T C 4: 86,580,324 (GRCm39) T146A probably benign Het
Pum1 T G 4: 130,474,393 (GRCm39) S488A probably benign Het
Robo1 A G 16: 72,539,002 (GRCm39) probably benign Het
Rsbn1 T C 3: 103,822,188 (GRCm39) L102P probably damaging Het
Sbno2 A T 10: 79,896,049 (GRCm39) V939E probably damaging Het
Scarf1 A T 11: 75,406,069 (GRCm39) T118S possibly damaging Het
Sdcbp2 G A 2: 151,429,113 (GRCm39) V171M probably benign Het
Sh3pxd2b T C 11: 32,361,571 (GRCm39) I261T probably damaging Het
Slc4a9 A G 18: 36,673,787 (GRCm39) probably null Het
Smpdl3a A G 10: 57,683,977 (GRCm39) Y245C probably damaging Het
Stk39 T C 2: 68,222,462 (GRCm39) I201V probably damaging Het
Timm44 A G 8: 4,324,204 (GRCm39) L25P possibly damaging Het
Tinf2 T C 14: 55,917,859 (GRCm39) H210R probably benign Het
Tmem168 A T 6: 13,591,446 (GRCm39) Y457N probably benign Het
Topbp1 T C 9: 103,200,727 (GRCm39) S587P probably benign Het
Tpp1 T A 7: 105,398,156 (GRCm39) I336F probably benign Het
Ttc28 G A 5: 111,424,896 (GRCm39) V1574I probably benign Het
Tut4 A G 4: 108,400,029 (GRCm39) K1277E probably damaging Het
Vmn2r52 A T 7: 9,905,181 (GRCm39) D219E probably benign Het
Zbtb40 G T 4: 136,745,904 (GRCm39) A43E probably damaging Het
Zfp970 G A 2: 177,167,010 (GRCm39) A195T probably damaging Het
Other mutations in Atp10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00649:Atp10a APN 7 58,444,230 (GRCm39) missense probably benign 0.06
IGL00973:Atp10a APN 7 58,457,218 (GRCm39) missense probably damaging 1.00
IGL00984:Atp10a APN 7 58,308,489 (GRCm39) missense probably damaging 1.00
IGL01086:Atp10a APN 7 58,474,066 (GRCm39) missense probably damaging 0.96
IGL01296:Atp10a APN 7 58,463,373 (GRCm39) missense probably benign 0.02
IGL01731:Atp10a APN 7 58,447,310 (GRCm39) missense probably benign 0.16
IGL02081:Atp10a APN 7 58,477,604 (GRCm39) missense possibly damaging 0.62
IGL02095:Atp10a APN 7 58,457,141 (GRCm39) missense probably damaging 1.00
IGL02549:Atp10a APN 7 58,469,481 (GRCm39) missense probably benign 0.00
IGL02558:Atp10a APN 7 58,469,390 (GRCm39) missense probably damaging 0.98
IGL02659:Atp10a APN 7 58,463,379 (GRCm39) missense probably benign
IGL02986:Atp10a APN 7 58,478,469 (GRCm39) missense probably benign
IGL03218:Atp10a APN 7 58,438,196 (GRCm39) critical splice donor site probably null
PIT4260001:Atp10a UTSW 7 58,440,866 (GRCm39) nonsense probably null
PIT4445001:Atp10a UTSW 7 58,453,215 (GRCm39) missense probably damaging 0.98
PIT4810001:Atp10a UTSW 7 58,463,596 (GRCm39) missense probably damaging 0.99
R0091:Atp10a UTSW 7 58,423,794 (GRCm39) splice site probably benign
R0349:Atp10a UTSW 7 58,453,215 (GRCm39) missense probably damaging 0.98
R0426:Atp10a UTSW 7 58,434,482 (GRCm39) missense probably benign 0.00
R0609:Atp10a UTSW 7 58,469,488 (GRCm39) splice site probably null
R0722:Atp10a UTSW 7 58,465,931 (GRCm39) missense possibly damaging 0.75
R0741:Atp10a UTSW 7 58,478,337 (GRCm39) missense possibly damaging 0.90
R1172:Atp10a UTSW 7 58,453,514 (GRCm39) missense probably benign 0.05
R1342:Atp10a UTSW 7 58,465,894 (GRCm39) splice site probably benign
R1648:Atp10a UTSW 7 58,434,575 (GRCm39) missense probably damaging 1.00
R1715:Atp10a UTSW 7 58,436,253 (GRCm39) missense probably damaging 0.98
R1737:Atp10a UTSW 7 58,476,986 (GRCm39) splice site probably benign
R1799:Atp10a UTSW 7 58,474,182 (GRCm39) missense probably damaging 1.00
R1909:Atp10a UTSW 7 58,478,460 (GRCm39) missense probably benign 0.12
R1918:Atp10a UTSW 7 58,477,683 (GRCm39) missense possibly damaging 0.82
R2031:Atp10a UTSW 7 58,477,678 (GRCm39) nonsense probably null
R2080:Atp10a UTSW 7 58,474,075 (GRCm39) missense probably damaging 0.97
R2424:Atp10a UTSW 7 58,444,303 (GRCm39) missense probably benign 0.16
R2696:Atp10a UTSW 7 58,463,366 (GRCm39) missense probably benign 0.00
R3932:Atp10a UTSW 7 58,476,852 (GRCm39) missense possibly damaging 0.69
R4198:Atp10a UTSW 7 58,463,434 (GRCm39) missense probably damaging 1.00
R4453:Atp10a UTSW 7 58,308,248 (GRCm39) small deletion probably benign
R4632:Atp10a UTSW 7 58,457,186 (GRCm39) missense possibly damaging 0.48
R4661:Atp10a UTSW 7 58,308,248 (GRCm39) small deletion probably benign
R4782:Atp10a UTSW 7 58,440,843 (GRCm39) missense probably benign
R4888:Atp10a UTSW 7 58,435,055 (GRCm39) missense probably damaging 1.00
R4935:Atp10a UTSW 7 58,463,512 (GRCm39) missense probably damaging 1.00
R5051:Atp10a UTSW 7 58,389,994 (GRCm39) frame shift probably null
R5213:Atp10a UTSW 7 58,423,731 (GRCm39) missense probably damaging 0.99
R5617:Atp10a UTSW 7 58,453,423 (GRCm39) missense probably benign 0.06
R5834:Atp10a UTSW 7 58,308,366 (GRCm39) missense probably benign 0.01
R5885:Atp10a UTSW 7 58,463,548 (GRCm39) missense possibly damaging 0.92
R6013:Atp10a UTSW 7 58,447,538 (GRCm39) missense probably benign 0.05
R6136:Atp10a UTSW 7 58,478,088 (GRCm39) missense probably benign
R6269:Atp10a UTSW 7 58,453,487 (GRCm39) missense possibly damaging 0.51
R6380:Atp10a UTSW 7 58,469,432 (GRCm39) nonsense probably null
R6743:Atp10a UTSW 7 58,447,562 (GRCm39) missense possibly damaging 0.89
R6875:Atp10a UTSW 7 58,447,100 (GRCm39) missense probably benign 0.01
R6975:Atp10a UTSW 7 58,423,733 (GRCm39) missense probably damaging 1.00
R7082:Atp10a UTSW 7 58,308,567 (GRCm39) missense probably damaging 1.00
R7203:Atp10a UTSW 7 58,436,221 (GRCm39) missense probably benign
R7224:Atp10a UTSW 7 58,447,219 (GRCm39) missense probably benign 0.00
R7287:Atp10a UTSW 7 58,477,017 (GRCm39) missense probably damaging 1.00
R7437:Atp10a UTSW 7 58,308,288 (GRCm39) missense unknown
R7474:Atp10a UTSW 7 58,308,275 (GRCm39) missense unknown
R7530:Atp10a UTSW 7 58,423,724 (GRCm39) missense probably benign 0.02
R7561:Atp10a UTSW 7 58,476,881 (GRCm39) missense probably damaging 0.98
R7743:Atp10a UTSW 7 58,453,457 (GRCm39) missense probably damaging 1.00
R7767:Atp10a UTSW 7 58,308,597 (GRCm39) missense probably damaging 1.00
R7861:Atp10a UTSW 7 58,438,107 (GRCm39) missense probably damaging 1.00
R7903:Atp10a UTSW 7 58,308,570 (GRCm39) missense probably damaging 1.00
R8015:Atp10a UTSW 7 58,453,245 (GRCm39) missense probably benign 0.00
R8166:Atp10a UTSW 7 58,457,270 (GRCm39) missense possibly damaging 0.46
R8201:Atp10a UTSW 7 58,469,424 (GRCm39) nonsense probably null
R8465:Atp10a UTSW 7 58,478,058 (GRCm39) missense probably benign 0.32
R8858:Atp10a UTSW 7 58,465,971 (GRCm39) missense probably damaging 1.00
R8985:Atp10a UTSW 7 58,438,092 (GRCm39) missense probably benign 0.03
R9274:Atp10a UTSW 7 58,478,369 (GRCm39) missense probably benign 0.22
R9385:Atp10a UTSW 7 58,477,887 (GRCm39) missense probably benign 0.00
R9432:Atp10a UTSW 7 58,469,418 (GRCm39) missense possibly damaging 0.95
R9454:Atp10a UTSW 7 58,308,339 (GRCm39) missense probably benign
R9596:Atp10a UTSW 7 58,477,553 (GRCm39) missense probably damaging 1.00
R9736:Atp10a UTSW 7 58,474,078 (GRCm39) missense probably damaging 1.00
Z1176:Atp10a UTSW 7 58,438,195 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCAGTGTCATCTGGCAGGTG -3'
(R):5'- TGCAGAATATTAAGCATTGCCC -3'

Sequencing Primer
(F):5'- AGAAAGTCTTAGGTAGTTGGTAGTAC -3'
(R):5'- GAATATTAAGCATTGCCCACACC -3'
Posted On 2021-10-11