Incidental Mutation 'IGL00089:Atp6v0a2'
ID 306492
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v0a2
Ensembl Gene ENSMUSG00000038023
Gene Name ATPase, H+ transporting, lysosomal V0 subunit A2
Synonyms Tj6, ATP6a2, Atp6n2, 8430408C20Rik, V-ATPase a2, TJ6s
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # IGL00089
Quality Score
Status
Chromosome 5
Chromosomal Location 124767117-124801519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124798841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 849 (F849L)
Ref Sequence ENSEMBL: ENSMUSP00000039737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037865] [ENSMUST00000058440] [ENSMUST00000141137] [ENSMUST00000197161] [ENSMUST00000198382]
AlphaFold P15920
PDB Structure NMR solution structure of peptide a2N(1-17) from Mus musculus V-ATPase [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000037865
AA Change: F849L

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: F849L

DomainStartEndE-ValueType
Pfam:V_ATPase_I 27 842 3.3e-299 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058440
SMART Domains Protein: ENSMUSP00000062995
Gene: ENSMUSG00000038011

DomainStartEndE-ValueType
low complexity region 63 72 N/A INTRINSIC
low complexity region 80 86 N/A INTRINSIC
coiled coil region 260 282 N/A INTRINSIC
Pfam:DHC_N1 305 878 9.1e-154 PFAM
coiled coil region 1191 1218 N/A INTRINSIC
coiled coil region 1337 1360 N/A INTRINSIC
Pfam:DHC_N2 1374 1782 1.7e-142 PFAM
AAA 1946 2082 2.51e-1 SMART
AAA 2225 2373 6.91e-1 SMART
low complexity region 2444 2464 N/A INTRINSIC
AAA 2567 2720 2.29e-2 SMART
Pfam:AAA_8 2886 3153 9.8e-87 PFAM
Pfam:MT 3165 3502 9.1e-53 PFAM
Pfam:AAA_9 3522 3747 2.3e-90 PFAM
Pfam:Dynein_heavy 3884 4588 7.6e-240 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141137
SMART Domains Protein: ENSMUSP00000114593
Gene: ENSMUSG00000038011

DomainStartEndE-ValueType
low complexity region 63 72 N/A INTRINSIC
low complexity region 80 86 N/A INTRINSIC
coiled coil region 260 282 N/A INTRINSIC
Pfam:DHC_N1 304 607 4.3e-57 PFAM
Pfam:DHC_N1 598 823 1.2e-39 PFAM
coiled coil region 1134 1161 N/A INTRINSIC
coiled coil region 1280 1303 N/A INTRINSIC
Pfam:DHC_N2 1315 1727 7.3e-135 PFAM
AAA 1889 2025 4e-3 SMART
AAA 2168 2316 1.1e-2 SMART
low complexity region 2387 2407 N/A INTRINSIC
AAA 2510 2663 3.6e-4 SMART
Pfam:AAA_8 2829 3096 2.5e-83 PFAM
Pfam:MT 3108 3445 1.2e-50 PFAM
Pfam:AAA_9 3461 3691 6.7e-59 PFAM
Pfam:Dynein_heavy 3821 4532 1.9e-231 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197087
Predicted Effect probably benign
Transcript: ENSMUST00000197161
SMART Domains Protein: ENSMUSP00000143461
Gene: ENSMUSG00000038023

DomainStartEndE-ValueType
low complexity region 63 77 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198382
SMART Domains Protein: ENSMUSP00000143284
Gene: ENSMUSG00000038023

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:V_ATPase_I 26 178 1.5e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199971
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a subunit of vacuolar ATPase, a multimeric enzyme that localizes to intracellular vesicles and to the plasma membrane of specialized cells. The encoded protein is a component of the V(0) domain, which functions in proton translocation across membranes. Function of this gene is important in fetal-specific immune suppression during pregnancy. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T C 5: 138,645,854 (GRCm39) S580P probably damaging Het
Abca12 T A 1: 71,342,700 (GRCm39) I927F possibly damaging Het
Abca8a A G 11: 109,941,765 (GRCm39) V1168A possibly damaging Het
Abcc1 T A 16: 14,278,847 (GRCm39) N1052K probably benign Het
Adamts13 C A 2: 26,895,373 (GRCm39) Q1155K probably benign Het
Adgre4 A T 17: 56,098,915 (GRCm39) probably benign Het
Ahsa2 T C 11: 23,446,837 (GRCm39) E42G probably damaging Het
Ankk1 T G 9: 49,333,200 (GRCm39) I95L probably benign Het
Anpep A T 7: 79,491,734 (GRCm39) L89Q probably damaging Het
Arl5a T C 2: 52,306,083 (GRCm39) N83S probably benign Het
Atp11b A G 3: 35,863,525 (GRCm39) probably null Het
BC106179 A G 16: 23,043,022 (GRCm39) probably benign Het
Bcl2a1c T C 9: 114,159,608 (GRCm39) *129Q probably null Het
C2cd5 T C 6: 142,963,671 (GRCm39) I888V probably null Het
Calb2 A T 8: 110,872,303 (GRCm39) L227Q probably damaging Het
Ccp110 G T 7: 118,321,647 (GRCm39) C434F possibly damaging Het
Cd209c A T 8: 3,990,339 (GRCm39) C160S probably damaging Het
Chmp1a A G 8: 123,935,758 (GRCm39) probably null Het
Col6a6 T A 9: 105,635,390 (GRCm39) probably null Het
Cyld T A 8: 89,432,085 (GRCm39) C28S probably benign Het
Dapk1 A T 13: 60,908,854 (GRCm39) I1156F probably benign Het
Dennd1a A T 2: 38,133,454 (GRCm39) Y16* probably null Het
Dennd3 T G 15: 73,438,982 (GRCm39) S1117A probably benign Het
Dgka A T 10: 128,568,955 (GRCm39) D203E probably damaging Het
Dhx15 G T 5: 52,324,117 (GRCm39) L392I probably damaging Het
Dnah10 A G 5: 124,823,680 (GRCm39) D567G probably benign Het
Eaf1 T A 14: 31,226,483 (GRCm39) probably null Het
Efnb2 T C 8: 8,710,589 (GRCm39) D9G probably benign Het
Fcrla A T 1: 170,755,067 (GRCm39) C15S probably benign Het
Flt3 T C 5: 147,291,686 (GRCm39) N588S probably damaging Het
Garre1 A T 7: 33,945,412 (GRCm39) probably benign Het
Gm10146 A T 10: 78,229,307 (GRCm39) noncoding transcript Het
Gnpat T C 8: 125,603,653 (GRCm39) probably benign Het
Golm2 T C 2: 121,741,274 (GRCm39) probably benign Het
Gpr39 A C 1: 125,800,468 (GRCm39) R406S probably benign Het
H2-Aa T C 17: 34,503,504 (GRCm39) H31R probably damaging Het
Helz2 G T 2: 180,871,495 (GRCm39) R2706S probably damaging Het
Hip1r T A 5: 124,127,798 (GRCm39) probably null Het
Hnf4g A G 3: 3,713,142 (GRCm39) T239A probably benign Het
Hps5 A T 7: 46,425,362 (GRCm39) I413N probably damaging Het
Hspg2 G A 4: 137,256,131 (GRCm39) G1413R probably damaging Het
Itgax T G 7: 127,734,498 (GRCm39) M352R probably damaging Het
Katna1 T A 10: 7,638,568 (GRCm39) M433K probably damaging Het
Kcna4 T G 2: 107,126,207 (GRCm39) S314A probably damaging Het
Kif13b C T 14: 64,907,142 (GRCm39) T42I possibly damaging Het
Krt78 G A 15: 101,855,945 (GRCm39) T622I probably benign Het
Krt86 T A 15: 101,374,396 (GRCm39) M263K possibly damaging Het
Lap3 A G 5: 45,663,511 (GRCm39) probably benign Het
Lepr A T 4: 101,672,232 (GRCm39) R1085S probably benign Het
Lmcd1 A G 6: 112,306,769 (GRCm39) I314V probably benign Het
Luc7l2 T C 6: 38,585,105 (GRCm39) probably benign Het
Mcm2 T A 6: 88,870,383 (GRCm39) M117L probably benign Het
Mdh2 T C 5: 135,815,138 (GRCm39) Y133H probably damaging Het
Minar1 C T 9: 89,483,853 (GRCm39) V515I probably benign Het
Mlkl T A 8: 112,046,060 (GRCm39) R317* probably null Het
Mrps34 T C 17: 25,114,344 (GRCm39) L68P probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo18a A G 11: 77,738,764 (GRCm39) E1299G probably damaging Het
Nlrp14 T C 7: 106,791,709 (GRCm39) L139P possibly damaging Het
Nudcd2 A G 11: 40,627,413 (GRCm39) D86G probably damaging Het
Or10u4 T A 10: 129,801,673 (GRCm39) R293W probably damaging Het
Or4c107 T A 2: 88,789,110 (GRCm39) I100N probably damaging Het
Or4f62 A T 2: 111,986,412 (GRCm39) M39L probably benign Het
Patj T C 4: 98,353,343 (GRCm39) F629L probably damaging Het
Rad23a A G 8: 85,562,524 (GRCm39) F280L probably damaging Het
Ralgapa1 C A 12: 55,769,558 (GRCm39) G811V probably damaging Het
St18 A G 1: 6,872,796 (GRCm39) D177G probably benign Het
Sult1c2 A C 17: 54,140,147 (GRCm39) Y159* probably null Het
Surf6 T A 2: 26,783,081 (GRCm39) probably null Het
Susd6 T G 12: 80,916,841 (GRCm39) probably benign Het
Sypl2 G A 3: 108,133,742 (GRCm39) probably benign Het
Ubr5 A T 15: 37,984,280 (GRCm39) F2289Y probably damaging Het
Vcl T C 14: 21,037,071 (GRCm39) I223T probably benign Het
Vmn1r234 C T 17: 21,449,860 (GRCm39) T258I possibly damaging Het
Vmn2r58 T A 7: 41,513,854 (GRCm39) K263M possibly damaging Het
Vmo1 A T 11: 70,404,424 (GRCm39) N192K probably damaging Het
Wrnip1 A G 13: 33,000,312 (GRCm39) N440D probably damaging Het
Zc3h4 T C 7: 16,156,159 (GRCm39) Y264H unknown Het
Zfp639 T G 3: 32,573,902 (GRCm39) probably null Het
Zfp831 T C 2: 174,488,078 (GRCm39) Y918H possibly damaging Het
Other mutations in Atp6v0a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Atp6v0a2 APN 5 124,783,968 (GRCm39) missense probably damaging 1.00
IGL01944:Atp6v0a2 APN 5 124,774,043 (GRCm39) missense probably benign 0.04
IGL02044:Atp6v0a2 APN 5 124,783,954 (GRCm39) missense probably benign 0.00
IGL02400:Atp6v0a2 APN 5 124,798,849 (GRCm39) missense probably benign
IGL02650:Atp6v0a2 APN 5 124,789,426 (GRCm39) splice site probably benign
IGL02687:Atp6v0a2 APN 5 124,791,206 (GRCm39) missense possibly damaging 0.67
IGL02965:Atp6v0a2 APN 5 124,767,267 (GRCm39) missense possibly damaging 0.85
IGL03049:Atp6v0a2 APN 5 124,789,845 (GRCm39) missense probably damaging 1.00
IGL03088:Atp6v0a2 APN 5 124,791,171 (GRCm39) splice site probably benign
IGL03198:Atp6v0a2 APN 5 124,789,425 (GRCm39) critical splice donor site probably null
alkaline UTSW 5 124,796,930 (GRCm39) missense probably damaging 1.00
basic UTSW 5 124,789,392 (GRCm39) nonsense probably null
electronegative UTSW 5 124,784,638 (GRCm39) missense probably damaging 1.00
energizer UTSW 5 124,797,050 (GRCm39) missense probably damaging 0.98
Everready UTSW 5 124,779,443 (GRCm39) missense probably damaging 0.99
Lithium UTSW 5 124,791,209 (GRCm39) missense probably damaging 1.00
R0128:Atp6v0a2 UTSW 5 124,790,248 (GRCm39) missense probably damaging 1.00
R0594:Atp6v0a2 UTSW 5 124,795,046 (GRCm39) missense probably benign 0.01
R1540:Atp6v0a2 UTSW 5 124,784,638 (GRCm39) missense probably damaging 1.00
R2136:Atp6v0a2 UTSW 5 124,795,552 (GRCm39) missense possibly damaging 0.78
R2921:Atp6v0a2 UTSW 5 124,794,981 (GRCm39) missense possibly damaging 0.80
R2922:Atp6v0a2 UTSW 5 124,794,981 (GRCm39) missense possibly damaging 0.80
R2923:Atp6v0a2 UTSW 5 124,794,981 (GRCm39) missense possibly damaging 0.80
R3055:Atp6v0a2 UTSW 5 124,765,209 (GRCm39) unclassified probably benign
R3889:Atp6v0a2 UTSW 5 124,777,203 (GRCm39) missense probably damaging 1.00
R3893:Atp6v0a2 UTSW 5 124,777,203 (GRCm39) missense probably damaging 1.00
R4013:Atp6v0a2 UTSW 5 124,789,860 (GRCm39) missense probably damaging 1.00
R4490:Atp6v0a2 UTSW 5 124,784,674 (GRCm39) missense probably damaging 1.00
R4791:Atp6v0a2 UTSW 5 124,784,667 (GRCm39) missense probably benign 0.17
R5219:Atp6v0a2 UTSW 5 124,790,249 (GRCm39) missense probably damaging 1.00
R5247:Atp6v0a2 UTSW 5 124,790,241 (GRCm39) missense probably damaging 1.00
R5293:Atp6v0a2 UTSW 5 124,784,649 (GRCm39) missense probably benign 0.00
R5620:Atp6v0a2 UTSW 5 124,783,909 (GRCm39) nonsense probably null
R5830:Atp6v0a2 UTSW 5 124,779,485 (GRCm39) missense probably damaging 1.00
R5875:Atp6v0a2 UTSW 5 124,793,391 (GRCm39) missense probably benign
R5903:Atp6v0a2 UTSW 5 124,789,343 (GRCm39) missense probably damaging 1.00
R6192:Atp6v0a2 UTSW 5 124,767,268 (GRCm39) missense probably benign 0.01
R6425:Atp6v0a2 UTSW 5 124,790,194 (GRCm39) missense probably damaging 1.00
R6752:Atp6v0a2 UTSW 5 124,779,452 (GRCm39) missense probably damaging 1.00
R6919:Atp6v0a2 UTSW 5 124,789,225 (GRCm39) splice site probably null
R6994:Atp6v0a2 UTSW 5 124,791,209 (GRCm39) missense probably damaging 1.00
R7053:Atp6v0a2 UTSW 5 124,783,923 (GRCm39) missense probably damaging 1.00
R7268:Atp6v0a2 UTSW 5 124,796,930 (GRCm39) missense probably damaging 1.00
R7342:Atp6v0a2 UTSW 5 124,784,676 (GRCm39) missense probably damaging 1.00
R7349:Atp6v0a2 UTSW 5 124,789,392 (GRCm39) nonsense probably null
R7714:Atp6v0a2 UTSW 5 124,775,533 (GRCm39) missense probably damaging 1.00
R7715:Atp6v0a2 UTSW 5 124,791,262 (GRCm39) missense probably damaging 0.99
R7748:Atp6v0a2 UTSW 5 124,793,560 (GRCm39) missense probably benign 0.00
R7775:Atp6v0a2 UTSW 5 124,779,443 (GRCm39) missense probably damaging 0.99
R7778:Atp6v0a2 UTSW 5 124,779,443 (GRCm39) missense probably damaging 0.99
R7824:Atp6v0a2 UTSW 5 124,779,443 (GRCm39) missense probably damaging 0.99
R7833:Atp6v0a2 UTSW 5 124,782,969 (GRCm39) missense probably damaging 1.00
R7901:Atp6v0a2 UTSW 5 124,779,485 (GRCm39) missense probably damaging 1.00
R7977:Atp6v0a2 UTSW 5 124,797,050 (GRCm39) missense probably damaging 0.98
R7987:Atp6v0a2 UTSW 5 124,797,050 (GRCm39) missense probably damaging 0.98
R8118:Atp6v0a2 UTSW 5 124,789,837 (GRCm39) missense probably damaging 0.98
R8728:Atp6v0a2 UTSW 5 124,796,152 (GRCm39) missense probably benign 0.00
R8765:Atp6v0a2 UTSW 5 124,793,534 (GRCm39) missense probably damaging 1.00
R8945:Atp6v0a2 UTSW 5 124,784,589 (GRCm39) missense probably damaging 1.00
R8971:Atp6v0a2 UTSW 5 124,797,061 (GRCm39) missense probably damaging 1.00
R9023:Atp6v0a2 UTSW 5 124,796,138 (GRCm39) missense possibly damaging 0.93
R9300:Atp6v0a2 UTSW 5 124,789,312 (GRCm39) missense probably damaging 0.98
R9360:Atp6v0a2 UTSW 5 124,767,259 (GRCm39) missense possibly damaging 0.77
R9601:Atp6v0a2 UTSW 5 124,790,257 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16