Incidental Mutation 'R2136:Atp6v0a2'
ID 235805
Institutional Source Beutler Lab
Gene Symbol Atp6v0a2
Ensembl Gene ENSMUSG00000038023
Gene Name ATPase, H+ transporting, lysosomal V0 subunit A2
Synonyms Tj6, ATP6a2, Atp6n2, 8430408C20Rik, V-ATPase a2, TJ6s
MMRRC Submission 040139-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R2136 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 124767117-124801519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124795552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 702 (L702Q)
Ref Sequence ENSEMBL: ENSMUSP00000039737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037865] [ENSMUST00000197161] [ENSMUST00000198382]
AlphaFold P15920
PDB Structure NMR solution structure of peptide a2N(1-17) from Mus musculus V-ATPase [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037865
AA Change: L702Q

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: L702Q

DomainStartEndE-ValueType
Pfam:V_ATPase_I 27 842 3.3e-299 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197087
Predicted Effect silent
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: ENSMUST00000199356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199971
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T G 16: 19,702,530 (GRCm39) noncoding transcript Het
Abca5 T C 11: 110,210,658 (GRCm39) T174A probably benign Het
Abcg3 G A 5: 105,114,680 (GRCm39) S279L probably benign Het
Acap3 T C 4: 155,981,369 (GRCm39) L85P probably damaging Het
Adgrl3 A G 5: 81,660,101 (GRCm39) K290R probably damaging Het
Ankhd1 A G 18: 36,780,674 (GRCm39) T1909A probably benign Het
Asap1 T C 15: 63,982,808 (GRCm39) D832G probably damaging Het
Bsn A G 9: 107,990,430 (GRCm39) V1774A probably damaging Het
Cd209e T C 8: 3,903,248 (GRCm39) E48G probably benign Het
Cdadc1 T C 14: 59,805,493 (GRCm39) probably null Het
Cfap65 C CA 1: 74,956,432 (GRCm39) probably null Het
Cln3 A C 7: 126,181,971 (GRCm39) S30R probably benign Het
Cluap1 C T 16: 3,751,636 (GRCm39) R332W probably damaging Het
Crb1 A T 1: 139,265,163 (GRCm39) V85E probably benign Het
Crocc G A 4: 140,760,265 (GRCm39) R789W probably damaging Het
Cwh43 A G 5: 73,572,397 (GRCm39) I212V probably benign Het
Cyp2t4 C A 7: 26,857,585 (GRCm39) F391L probably benign Het
Dhx35 G T 2: 158,673,781 (GRCm39) R404L probably damaging Het
Disp1 A G 1: 182,869,942 (GRCm39) L826S probably damaging Het
Dync2h1 T A 9: 7,122,772 (GRCm39) E2061D probably damaging Het
Ep300 T A 15: 81,524,648 (GRCm39) Y1393N unknown Het
Fap C T 2: 62,354,551 (GRCm39) G446D possibly damaging Het
Fat3 A G 9: 16,288,347 (GRCm39) I392T probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Glipr1l1 T C 10: 111,896,381 (GRCm39) V56A probably damaging Het
Grsf1 A G 5: 88,820,517 (GRCm39) V7A probably benign Het
Hmcn1 G A 1: 150,509,410 (GRCm39) A3646V probably damaging Het
Ipo9 A T 1: 135,322,023 (GRCm39) I569N probably damaging Het
Irs1 G T 1: 82,267,763 (GRCm39) P151Q probably damaging Het
Kalrn T C 16: 34,128,094 (GRCm39) D491G possibly damaging Het
Kctd7 T C 5: 130,181,207 (GRCm39) L210P probably damaging Het
Lifr C A 15: 7,211,338 (GRCm39) D625E possibly damaging Het
Lrguk T C 6: 34,020,454 (GRCm39) V201A probably benign Het
Mark1 A G 1: 184,651,770 (GRCm39) V135A probably damaging Het
Mical2 T A 7: 111,870,722 (GRCm39) D70E possibly damaging Het
Mrc1 T C 2: 14,275,000 (GRCm39) Y434H probably damaging Het
Myh10 C A 11: 68,695,540 (GRCm39) Q1556K probably damaging Het
Nav1 G A 1: 135,382,174 (GRCm39) T1400I probably null Het
Or1j11 A G 2: 36,311,950 (GRCm39) D180G probably damaging Het
Or2a7 A G 6: 43,151,435 (GRCm39) K172E probably benign Het
Or4b13 A C 2: 90,082,597 (GRCm39) V245G probably damaging Het
Or4f4b T C 2: 111,313,961 (GRCm39) V62A probably damaging Het
Or4p7 T A 2: 88,221,663 (GRCm39) I24N probably benign Het
Or5d43 T C 2: 88,104,584 (GRCm39) K270E probably damaging Het
Or5e1 G A 7: 108,354,430 (GRCm39) M122I possibly damaging Het
Osmr T A 15: 6,881,943 (GRCm39) Q67L probably damaging Het
Pan2 T G 10: 128,149,506 (GRCm39) V522G possibly damaging Het
Pard3 T G 8: 128,103,366 (GRCm39) probably null Het
Pcdhgc5 G T 18: 37,953,166 (GRCm39) A147S possibly damaging Het
Pcsk9 T C 4: 106,303,967 (GRCm39) I506V probably benign Het
Polr3d GCCCCC GCCCC 14: 70,680,487 (GRCm39) probably null Het
Prdm4 G A 10: 85,729,215 (GRCm39) R731* probably null Het
Prdx6b T A 2: 80,123,507 (GRCm39) D105E probably damaging Het
Prss3b A G 6: 41,012,396 (GRCm39) F6S probably benign Het
Rab42 A G 4: 132,029,790 (GRCm39) L144P probably damaging Het
Ralbp1 T A 17: 66,171,661 (GRCm39) K104M probably damaging Het
Resf1 T A 6: 149,230,320 (GRCm39) I1122K probably benign Het
Rrp12 A G 19: 41,881,038 (GRCm39) V131A probably damaging Het
Sbno1 C T 5: 124,525,597 (GRCm39) probably null Het
Sbno2 A T 10: 79,898,527 (GRCm39) I645N probably damaging Het
Scfd2 T C 5: 74,367,028 (GRCm39) K624R probably benign Het
Sgk2 C A 2: 162,841,099 (GRCm39) probably null Het
Sirt4 A G 5: 115,617,760 (GRCm39) S299P probably benign Het
Skic3 T C 13: 76,321,473 (GRCm39) S1322P possibly damaging Het
Slit2 C T 5: 48,461,567 (GRCm39) A1521V probably benign Het
Socs7 T G 11: 97,263,933 (GRCm39) V275G possibly damaging Het
Spink11 G A 18: 44,323,554 (GRCm39) P102S probably benign Het
Tacc3 A G 5: 33,828,748 (GRCm39) N534D probably damaging Het
Tas2r115 T C 6: 132,714,309 (GRCm39) Y214C probably damaging Het
Tcaf1 A T 6: 42,650,454 (GRCm39) M875K probably benign Het
Ttc22 T A 4: 106,479,869 (GRCm39) L41Q possibly damaging Het
Vasn T A 16: 4,467,659 (GRCm39) C535* probably null Het
Vcan T A 13: 89,837,856 (GRCm39) I2563F probably damaging Het
Vmn2r63 T G 7: 42,576,297 (GRCm39) Q505H probably damaging Het
Vmn2r65 T G 7: 84,592,781 (GRCm39) Q475H probably damaging Het
Zbtb43 T C 2: 33,344,532 (GRCm39) Y231C probably damaging Het
Zfp292 A G 4: 34,810,266 (GRCm39) V931A probably benign Het
Other mutations in Atp6v0a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Atp6v0a2 APN 5 124,798,841 (GRCm39) missense probably benign 0.19
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
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
Predicted Primers PCR Primer
(F):5'- TCCCCATTGCTCTGAGACAGTC -3'
(R):5'- AACTTGTGATGTGGCCACTTG -3'

Sequencing Primer
(F):5'- CCATTGCTCTGAGACAGTCTAAAGG -3'
(R):5'- ACTTGGCCTGCATGAAGG -3'
Posted On 2014-10-01