Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02044:Atp6v0a2'

184883

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 #

IGL02044

Quality Score

Status

Chromosome

Chromosomal Location

124767117-124801519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124783954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 267 (N267K)

Ref Sequence

ENSEMBL: ENSMUSP00000039737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037865] [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: N267K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000039737
Gene: ENSMUSG00000038023
AA Change: N267K

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	27	842	3.3e-299	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197931

Predicted Effect

probably benign
Transcript: ENSMUST00000198382

SMART Domains

Protein: ENSMUSP00000143284
Gene: ENSMUSG00000038023

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:V_ATPase_I	26	178	1.5e-36	PFAM

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	C	7: 139,562,735 (GRCm39)	D772G	possibly damaging	Het
Cx3cl1	T	A	8: 95,507,168 (GRCm39)	V391D	probably damaging	Het
Dscaml1	C	T	9: 45,658,241 (GRCm39)	R1671*	probably null	Het
Dzip3	A	T	16: 48,768,790 (GRCm39)	S443T	possibly damaging	Het
Hrh2	A	T	13: 54,368,965 (GRCm39)	T314S	probably benign	Het
Ifi206	C	T	1: 173,308,557 (GRCm39)	V480M	probably benign	Het
Krt84	A	G	15: 101,436,931 (GRCm39)	Y368H	probably damaging	Het
Lama1	T	C	17: 68,118,485 (GRCm39)	S2566P	probably benign	Het
Lyst	T	A	13: 13,887,431 (GRCm39)	F3087I	probably damaging	Het
Map3k19	A	T	1: 127,751,242 (GRCm39)	L703H	probably damaging	Het
Or8c9	A	G	9: 38,241,461 (GRCm39)	S193G	probably benign	Het
Or8g50	C	T	9: 39,648,270 (GRCm39)	S53L	possibly damaging	Het
Pard6a	A	G	8: 106,429,651 (GRCm39)	D203G	probably damaging	Het
Pate7	T	C	9: 35,687,959 (GRCm39)	K94E	probably benign	Het
Pde8a	T	C	7: 80,967,197 (GRCm39)		probably null	Het
Pdia6	C	A	12: 17,333,227 (GRCm39)	T400K	probably damaging	Het
Pdzd8	A	T	19: 59,303,724 (GRCm39)	V354D	possibly damaging	Het
Sec13	A	G	6: 113,713,381 (GRCm39)	I39T	probably damaging	Het
Smyd3	C	T	1: 178,799,844 (GRCm39)	S365N	probably benign	Het
Sorcs1	A	G	19: 50,276,597 (GRCm39)		probably benign	Het
Tjp2	T	G	19: 24,098,204 (GRCm39)	Y486S	probably damaging	Het
Tlr13	T	C	X: 105,200,703 (GRCm39)	F147L	probably damaging	Het
Ulk2	T	A	11: 61,672,465 (GRCm39)	N958Y	probably damaging	Het
Unk	T	A	11: 115,940,154 (GRCm39)	M169K	probably damaging	Het
Wdr27	T	C	17: 15,122,031 (GRCm39)	Y625C	possibly damaging	Het

Other mutations in Atp6v0a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2014-05-07