Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00089:Atp6v0a2'

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

V-ATPase a2, Atp6n2, 8430408C20Rik, Tj6, ATP6a2, TJ6s

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

IGL00089

Quality Score

Status

Chromosome

Chromosomal Location

124628576-124724455 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124721777 bp (GRCm38)

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000058440

SMART Domains

Protein: ENSMUSP00000062995
Gene: ENSMUSG00000038011

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199526

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,245,987		probably benign	Het
A430033K04Rik	T	C	5: 138,647,592	S580P	probably damaging	Het
Abca12	T	A	1: 71,303,541	I927F	possibly damaging	Het
Abca8a	A	G	11: 110,050,939	V1168A	possibly damaging	Het
Abcc1	T	A	16: 14,460,983	N1052K	probably benign	Het
Adamts13	C	A	2: 27,005,361	Q1155K	probably benign	Het
Adgre4	A	T	17: 55,791,915		probably benign	Het
AF529169	C	T	9: 89,601,800	V515I	probably benign	Het
Ahsa2	T	C	11: 23,496,837	E42G	probably damaging	Het
Ankk1	T	G	9: 49,421,900	I95L	probably benign	Het
Anpep	A	T	7: 79,841,986	L89Q	probably damaging	Het
Arl5a	T	C	2: 52,416,071	N83S	probably benign	Het
Atp11b	A	G	3: 35,809,376		probably null	Het
BC106179	A	G	16: 23,224,272		probably benign	Het
Bcl2a1c	T	C	9: 114,330,540	*129Q	probably null	Het
C2cd5	T	C	6: 143,017,945	I888V	probably null	Het
Calb2	A	T	8: 110,145,671	L227Q	probably damaging	Het
Casc4	T	C	2: 121,910,793		probably benign	Het
Ccp110	G	T	7: 118,722,424	C434F	possibly damaging	Het
Cd209c	A	T	8: 3,940,339	C160S	probably damaging	Het
Chmp1a	A	G	8: 123,209,019		probably null	Het
Col6a6	T	A	9: 105,758,191		probably null	Het
Cyld	T	A	8: 88,705,457	C28S	probably benign	Het
Dapk1	A	T	13: 60,761,040	I1156F	probably benign	Het
Dennd1a	A	T	2: 38,243,442	Y16*	probably null	Het
Dennd3	T	G	15: 73,567,133	S1117A	probably benign	Het
Dgka	A	T	10: 128,733,086	D203E	probably damaging	Het
Dhx15	G	T	5: 52,166,775	L392I	probably damaging	Het
Dnah10	A	G	5: 124,746,616	D567G	probably benign	Het
Eaf1	T	A	14: 31,504,526		probably null	Het
Efnb2	T	C	8: 8,660,589	D9G	probably benign	Het
Fcrla	A	T	1: 170,927,498	C15S	probably benign	Het
Flt3	T	C	5: 147,354,876	N588S	probably damaging	Het
Gm10146	A	T	10: 78,393,473		noncoding transcript	Het
Gnpat	T	C	8: 124,876,914		probably benign	Het
Gpr39	A	C	1: 125,872,731	R406S	probably benign	Het
H2-Aa	T	C	17: 34,284,530	H31R	probably damaging	Het
Helz2	G	T	2: 181,229,702	R2706S	probably damaging	Het
Hip1r	T	A	5: 123,989,735		probably null	Het
Hnf4g	A	G	3: 3,648,082	T239A	probably benign	Het
Hps5	A	T	7: 46,775,938	I413N	probably damaging	Het
Hspg2	G	A	4: 137,528,820	G1413R	probably damaging	Het
Itgax	T	G	7: 128,135,326	M352R	probably damaging	Het
Katna1	T	A	10: 7,762,804	M433K	probably damaging	Het
Kcna4	T	G	2: 107,295,862	S314A	probably damaging	Het
Kif13b	C	T	14: 64,669,693	T42I	possibly damaging	Het
Krt78	G	A	15: 101,947,510	T622I	probably benign	Het
Krt86	T	A	15: 101,476,515	M263K	possibly damaging	Het
Lap3	A	G	5: 45,506,169		probably benign	Het
Lepr	A	T	4: 101,815,035	R1085S	probably benign	Het
Lmcd1	A	G	6: 112,329,808	I314V	probably benign	Het
Luc7l2	T	C	6: 38,608,170		probably benign	Het
Mcm2	T	A	6: 88,893,401	M117L	probably benign	Het
Mdh2	T	C	5: 135,786,284	Y133H	probably damaging	Het
Mlkl	T	A	8: 111,319,428	R317*	probably null	Het
Mrps34	T	C	17: 24,895,370	L68P	probably damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Myo18a	A	G	11: 77,847,938	E1299G	probably damaging	Het
Nlrp14	T	C	7: 107,192,502	L139P	possibly damaging	Het
Nudcd2	A	G	11: 40,736,586	D86G	probably damaging	Het
Olfr1212	T	A	2: 88,958,766	I100N	probably damaging	Het
Olfr1318	A	T	2: 112,156,067	M39L	probably benign	Het
Olfr819	T	A	10: 129,965,804	R293W	probably damaging	Het
Patj	T	C	4: 98,465,106	F629L	probably damaging	Het
Rad23a	A	G	8: 84,835,895	F280L	probably damaging	Het
Ralgapa1	C	A	12: 55,722,773	G811V	probably damaging	Het
St18	A	G	1: 6,802,572	D177G	probably benign	Het
Sult1c2	A	C	17: 53,833,119	Y159*	probably null	Het
Surf6	T	A	2: 26,893,069		probably null	Het
Susd6	T	G	12: 80,870,067		probably benign	Het
Sypl2	G	A	3: 108,226,426		probably benign	Het
Ubr5	A	T	15: 37,984,036	F2289Y	probably damaging	Het
Vcl	T	C	14: 20,987,003	I223T	probably benign	Het
Vmn1r234	C	T	17: 21,229,598	T258I	possibly damaging	Het
Vmn2r58	T	A	7: 41,864,430	K263M	possibly damaging	Het
Vmo1	A	T	11: 70,513,598	N192K	probably damaging	Het
Wrnip1	A	G	13: 32,816,329	N440D	probably damaging	Het
Zc3h4	T	C	7: 16,422,234	Y264H	unknown	Het
Zfp639	T	G	3: 32,519,753		probably null	Het
Zfp831	T	C	2: 174,646,285	Y918H	possibly damaging	Het

Other mutations in Atp6v0a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Atp6v0a2	APN	5	124646028	missense	probably damaging	1.00
IGL01944:Atp6v0a2	APN	5	124636105	missense	probably benign	0.04
IGL02044:Atp6v0a2	APN	5	124646014	missense	probably benign	0.00
IGL02400:Atp6v0a2	APN	5	124721785	missense	probably benign
IGL02650:Atp6v0a2	APN	5	124712362	splice site	probably benign
IGL02687:Atp6v0a2	APN	5	124714142	missense	possibly damaging	0.67
IGL02965:Atp6v0a2	APN	5	124629202	missense	possibly damaging	0.85
IGL03049:Atp6v0a2	APN	5	124712781	missense	probably damaging	1.00
IGL03088:Atp6v0a2	APN	5	124714107	splice site	probably benign
IGL03198:Atp6v0a2	APN	5	124712361	critical splice donor site	probably null
alkaline	UTSW	5	124719866	missense	probably damaging	1.00
basic	UTSW	5	124712328	nonsense	probably null
electronegative	UTSW	5	124646698	missense	probably damaging	1.00
energizer	UTSW	5	124719986	missense	probably damaging	0.98
Everready	UTSW	5	124641505	missense	probably damaging	0.99
Lithium	UTSW	5	124714145	missense	probably damaging	1.00
R0128:Atp6v0a2	UTSW	5	124713184	missense	probably damaging	1.00
R0594:Atp6v0a2	UTSW	5	124717982	missense	probably benign	0.01
R1540:Atp6v0a2	UTSW	5	124646698	missense	probably damaging	1.00
R2136:Atp6v0a2	UTSW	5	124718488	missense	possibly damaging	0.78
R2921:Atp6v0a2	UTSW	5	124717917	missense	possibly damaging	0.80
R2922:Atp6v0a2	UTSW	5	124717917	missense	possibly damaging	0.80
R2923:Atp6v0a2	UTSW	5	124717917	missense	possibly damaging	0.80
R3055:Atp6v0a2	UTSW	5	124627144	unclassified	probably benign
R3889:Atp6v0a2	UTSW	5	124639265	missense	probably damaging	1.00
R3893:Atp6v0a2	UTSW	5	124639265	missense	probably damaging	1.00
R4013:Atp6v0a2	UTSW	5	124712796	missense	probably damaging	1.00
R4490:Atp6v0a2	UTSW	5	124646734	missense	probably damaging	1.00
R4791:Atp6v0a2	UTSW	5	124646727	missense	probably benign	0.17
R5219:Atp6v0a2	UTSW	5	124713185	missense	probably damaging	1.00
R5247:Atp6v0a2	UTSW	5	124713177	missense	probably damaging	1.00
R5293:Atp6v0a2	UTSW	5	124646709	missense	probably benign	0.00
R5620:Atp6v0a2	UTSW	5	124645969	nonsense	probably null
R5830:Atp6v0a2	UTSW	5	124641547	missense	probably damaging	1.00
R5875:Atp6v0a2	UTSW	5	124716327	missense	probably benign
R5903:Atp6v0a2	UTSW	5	124712279	missense	probably damaging	1.00
R6192:Atp6v0a2	UTSW	5	124629203	missense	probably benign	0.01
R6425:Atp6v0a2	UTSW	5	124713130	missense	probably damaging	1.00
R6752:Atp6v0a2	UTSW	5	124641514	missense	probably damaging	1.00
R6919:Atp6v0a2	UTSW	5	124712161	splice site	probably null
R6994:Atp6v0a2	UTSW	5	124714145	missense	probably damaging	1.00
R7053:Atp6v0a2	UTSW	5	124645983	missense	probably damaging	1.00
R7268:Atp6v0a2	UTSW	5	124719866	missense	probably damaging	1.00
R7342:Atp6v0a2	UTSW	5	124646736	missense	probably damaging	1.00
R7349:Atp6v0a2	UTSW	5	124712328	nonsense	probably null
R7714:Atp6v0a2	UTSW	5	124637595	missense	probably damaging	1.00
R7715:Atp6v0a2	UTSW	5	124714198	missense	probably damaging	0.99
R7748:Atp6v0a2	UTSW	5	124716496	missense	probably benign	0.00
R7775:Atp6v0a2	UTSW	5	124641505	missense	probably damaging	0.99
R7778:Atp6v0a2	UTSW	5	124641505	missense	probably damaging	0.99
R7824:Atp6v0a2	UTSW	5	124641505	missense	probably damaging	0.99
R7833:Atp6v0a2	UTSW	5	124645031	missense	probably damaging	1.00
R7901:Atp6v0a2	UTSW	5	124641547	missense	probably damaging	1.00
R7977:Atp6v0a2	UTSW	5	124719986	missense	probably damaging	0.98
R7987:Atp6v0a2	UTSW	5	124719986	missense	probably damaging	0.98
R8118:Atp6v0a2	UTSW	5	124712773	missense	probably damaging	0.98
R8728:Atp6v0a2	UTSW	5	124719088	missense	probably benign	0.00
R8765:Atp6v0a2	UTSW	5	124716470	missense	probably damaging	1.00
R8945:Atp6v0a2	UTSW	5	124646649	missense	probably damaging	1.00
R8971:Atp6v0a2	UTSW	5	124719997	missense	probably damaging	1.00
R9023:Atp6v0a2	UTSW	5	124719074	missense	possibly damaging	0.93
R9300:Atp6v0a2	UTSW	5	124712248	missense	probably damaging	0.98
R9360:Atp6v0a2	UTSW	5	124629194	missense	possibly damaging	0.77
R9601:Atp6v0a2	UTSW	5	124713193	missense	probably damaging	1.00

Posted On

2015-04-16