Mutagenetix > Incidental Mutation

Incidental Mutation 'R4907:Atp4a'

379108

Institutional Source

Beutler Lab

Gene Symbol

Atp4a

Ensembl Gene

ENSMUSG00000005553

Gene Name

ATPase, H+/K+ exchanging, gastric, alpha polypeptide

Synonyms

H+/K+-ATPase alpha, H+K+-transporting alpha 1

MMRRC Submission

042509-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R4907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30712209-30725534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30719092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 602 (I602V)

Ref Sequence

ENSEMBL: ENSMUSP00000131964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005692] [ENSMUST00000170371] [ENSMUST00000171014]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005692
AA Change: I602V

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: I602V

Domain	Start	End	E-Value	Type
Pfam:H-K_ATPase_N	2	42	5.4e-23	PFAM
Cation_ATPase_N	52	126	2.26e-18	SMART
Pfam:E1-E2_ATPase	144	375	1.1e-57	PFAM
Pfam:Hydrolase	380	739	5.3e-16	PFAM
Pfam:HAD	383	736	1.9e-18	PFAM
Pfam:Cation_ATPase	436	531	1.6e-24	PFAM
Pfam:Cation_ATPase_C	809	1019	4.8e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167761

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170371
AA Change: I602V

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: I602V

Domain	Start	End	E-Value	Type
Pfam:H-K_ATPase_N	2	42	4.9e-28	PFAM
Cation_ATPase_N	52	126	2.26e-18	SMART
Pfam:E1-E2_ATPase	145	376	1e-62	PFAM
Pfam:Hydrolase	380	730	9.3e-25	PFAM
Pfam:HAD	383	727	2.1e-15	PFAM
Pfam:Hydrolase_like2	436	531	4e-25	PFAM
Pfam:Cation_ATPase_C	800	1010	1.5e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171014

Meta Mutation Damage Score

0.1690

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

98% (89/91)

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 a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in achlorhydria, hypergastrinemia, and abnormalities of the parietal cells. Mice homozygous for an ENU-induced allele exhibit iron-deficiency anemia. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(2)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	G	T	1: 57,383,191	G242V	probably damaging	Het
4933412E24Rik	T	C	15: 60,016,108	E161G	probably benign	Het
Abcc5	A	G	16: 20,376,546	S734P	possibly damaging	Het
Actn1	T	G	12: 80,181,414	H394P	probably damaging	Het
Adam8	A	T	7: 139,989,373	D144E	probably benign	Het
Ankrd50	T	A	3: 38,454,973	K1082*	probably null	Het
Ankrd50	A	T	3: 38,456,675	N514K	probably damaging	Het
Baz2a	A	G	10: 128,110,808	T64A	probably damaging	Het
Btbd19	A	G	4: 117,120,567		probably benign	Het
Casz1	T	A	4: 148,944,541	S1148T	probably damaging	Het
Ccdc18	T	A	5: 108,136,141	D103E	probably benign	Het
Cd209d	T	C	8: 3,877,948	N52S	probably benign	Het
Cdh7	T	A	1: 110,138,323	Y776N	probably damaging	Het
Cdk14	A	G	5: 5,249,140	V101A	probably damaging	Het
Cldn22	T	C	8: 47,824,707	V60A	probably benign	Het
Clec10a	G	A	11: 70,169,971	G183D	probably benign	Het
Cnga3	T	C	1: 37,241,942		probably null	Het
Cts3	A	T	13: 61,566,820	F224I	probably benign	Het
Fbxo40	A	G	16: 36,969,702	Y349H	probably benign	Het
Flt1	C	A	5: 147,683,939	A132S	probably benign	Het
Gm10029	A	T	13: 6,662,556		noncoding transcript	Het
Gm14399	T	A	2: 175,131,389		probably benign	Het
Gm9932	T	C	5: 100,199,155		noncoding transcript	Het
Immp1l	A	G	2: 105,937,117	Y107C	probably damaging	Het
Ism1	G	T	2: 139,678,752	G28V	probably benign	Het
Klf1	C	A	8: 84,903,185	S213*	probably null	Het
Krt12	T	C	11: 99,418,362	E329G	probably damaging	Het
Lama2	A	T	10: 27,164,946	N1460K	probably benign	Het
Llgl2	T	A	11: 115,853,974	Y932*	probably null	Het
Lrrc7	T	C	3: 158,161,240	I955V	probably damaging	Het
Ltbp1	A	G	17: 75,005,904	R7G	probably benign	Het
Mcm3ap	A	G	10: 76,493,441	E1152G	probably damaging	Het
Mgam2-ps	T	C	6: 40,834,743		noncoding transcript	Het
Mical3	T	A	6: 121,007,298	M206L	probably benign	Het
Mndal	T	G	1: 173,862,690	N358T	probably damaging	Het
Nckap5	A	G	1: 126,026,152	S824P	possibly damaging	Het
Ndufb2	T	C	6: 39,596,620		probably benign	Het
Nfatc3	C	A	8: 106,079,727	H401Q	probably damaging	Het
Npas2	T	C	1: 39,361,985	V810A	unknown	Het
Nt5c2	A	G	19: 46,896,539	V245A	possibly damaging	Het
Olfr1463	A	G	19: 13,234,793	D181G	probably damaging	Het
Olfr350	A	T	2: 36,850,258	I71F	probably benign	Het
Olfr615	A	G	7: 103,561,034	M186V	possibly damaging	Het
Olfr651	A	G	7: 104,553,311	R131G	probably damaging	Het
Olfr984	A	T	9: 40,100,659	M277K	probably benign	Het
Otof	A	T	5: 30,378,661		probably null	Het
Pck1	C	T	2: 173,157,023	T358I	probably damaging	Het
Pclo	T	C	5: 14,680,051		probably benign	Het
Pgm1	T	A	5: 64,103,878	F238L	probably benign	Het
Pgr	G	A	9: 8,947,043		probably benign	Het
Pkd1l3	T	A	8: 109,640,843	V1224E	probably damaging	Het
Pkd2l1	A	G	19: 44,154,142	V487A	possibly damaging	Het
Pkhd1	T	C	1: 20,209,226	D2956G	probably damaging	Het
Rexo2	A	T	9: 48,479,403		probably null	Het
Rgs22	T	A	15: 36,087,424	L573F	possibly damaging	Het
Rufy3	T	G	5: 88,584,192	I18S	possibly damaging	Het
Slc30a9	T	C	5: 67,346,162	L393P	probably damaging	Het
Snw1	T	C	12: 87,459,489	I214V	probably benign	Het
Sorbs1	G	A	19: 40,340,047	Q595*	probably null	Het
Spata21	T	A	4: 141,097,121		probably null	Het
Ss18l1	G	T	2: 180,063,399		probably null	Het
Tmem163	A	T	1: 127,519,370	L176H	probably damaging	Het
Tpd52	T	C	3: 8,944,608		probably null	Het
Tpsab1	T	A	17: 25,343,462	Y297F	possibly damaging	Het
Trim55	A	G	3: 19,674,374	T450A	probably benign	Het
Ttf1	C	T	2: 29,064,656	H11Y	possibly damaging	Het
Txndc11	A	T	16: 11,088,534	H377Q	probably benign	Het
Usp17la	A	G	7: 104,861,148	Y320C	probably damaging	Het
Vmn2r109	T	C	17: 20,550,086	N547D	probably damaging	Het
Vmn2r54	A	T	7: 12,616,223		probably null	Het
Wdr33	T	C	18: 31,906,993	*1331Q	probably null	Het
Wdr34	A	G	2: 30,032,460		probably null	Het
Wdr90	T	A	17: 25,860,650		probably benign	Het
Xpo7	T	C	14: 70,670,629	M903V	probably benign	Het
Zfhx3	T	A	8: 108,793,354	S369R	probably damaging	Het
Zfp808	T	C	13: 62,171,473	F172S	possibly damaging	Het
Zfp821	A	G	8: 109,723,993	E55G	probably benign	Het
Zfp964	T	C	8: 69,663,322	Y191H	possibly damaging	Het
Zfyve1	T	C	12: 83,574,872	T250A	probably damaging	Het

Other mutations in Atp4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Atp4a	APN	7	30713204	missense	possibly damaging	0.95
IGL01327:Atp4a	APN	7	30713250	missense	possibly damaging	0.96
IGL01510:Atp4a	APN	7	30720791	missense	probably benign	0.02
IGL01763:Atp4a	APN	7	30715518	missense	probably benign	0.20
IGL02061:Atp4a	APN	7	30715029	missense	probably damaging	1.00
IGL02435:Atp4a	APN	7	30717057	missense	probably benign
IGL02903:Atp4a	APN	7	30715919	missense	probably benign	0.00
IGL03181:Atp4a	APN	7	30724704	missense	probably benign	0.02
IGL03350:Atp4a	APN	7	30720867	missense	probably damaging	1.00
atypical	UTSW	7	30715356	missense	possibly damaging	0.84
sublytic	UTSW	7	30715800	missense	probably benign	0.32
IGL03097:Atp4a	UTSW	7	30723037	missense	probably benign	0.14
R0095:Atp4a	UTSW	7	30720735	missense	probably damaging	0.99
R0121:Atp4a	UTSW	7	30720101	missense	probably benign	0.00
R0140:Atp4a	UTSW	7	30720101	missense	probably benign	0.00
R0241:Atp4a	UTSW	7	30717135	missense	probably benign	0.00
R0437:Atp4a	UTSW	7	30720101	missense	probably benign	0.00
R0624:Atp4a	UTSW	7	30718999	missense	probably benign
R1164:Atp4a	UTSW	7	30717692	missense	probably benign	0.00
R2105:Atp4a	UTSW	7	30720368	critical splice donor site	probably null
R2272:Atp4a	UTSW	7	30715500	nonsense	probably null
R2327:Atp4a	UTSW	7	30720241	missense	probably benign	0.16
R2881:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R2990:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R2992:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R2993:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R3123:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R3125:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R3441:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R3442:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R3686:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R3687:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R3845:Atp4a	UTSW	7	30717115	missense	probably null	0.99
R4027:Atp4a	UTSW	7	30724952	splice site	probably null
R4072:Atp4a	UTSW	7	30715332	missense	probably benign	0.09
R4433:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R4454:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R4457:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R4458:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R4510:Atp4a	UTSW	7	30724253	nonsense	probably null
R4511:Atp4a	UTSW	7	30724253	nonsense	probably null
R4576:Atp4a	UTSW	7	30717722	missense	probably benign	0.25
R4656:Atp4a	UTSW	7	30719948	intron	probably benign
R4661:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R4662:Atp4a	UTSW	7	30720225	missense	probably benign	0.16
R4852:Atp4a	UTSW	7	30724268	missense	probably benign	0.10
R4892:Atp4a	UTSW	7	30712474	missense	probably benign	0.07
R5024:Atp4a	UTSW	7	30715864	missense	possibly damaging	0.82
R5254:Atp4a	UTSW	7	30715530	missense	probably damaging	1.00
R5318:Atp4a	UTSW	7	30715329	missense	probably damaging	1.00
R5340:Atp4a	UTSW	7	30720806	missense	probably benign
R5484:Atp4a	UTSW	7	30720672	unclassified	probably benign
R5729:Atp4a	UTSW	7	30712426	missense	possibly damaging	0.48
R5762:Atp4a	UTSW	7	30719096	missense	probably damaging	0.99
R5797:Atp4a	UTSW	7	30712649	missense	probably damaging	1.00
R6030:Atp4a	UTSW	7	30722516	missense	probably damaging	0.99
R6030:Atp4a	UTSW	7	30722516	missense	probably damaging	0.99
R6077:Atp4a	UTSW	7	30715919	missense	probably benign	0.00
R6243:Atp4a	UTSW	7	30715957	missense	possibly damaging	0.68
R6346:Atp4a	UTSW	7	30715356	missense	possibly damaging	0.84
R6459:Atp4a	UTSW	7	30712462	missense	probably benign	0.00
R6515:Atp4a	UTSW	7	30712478	missense	possibly damaging	0.78
R6773:Atp4a	UTSW	7	30715377	missense	probably damaging	0.98
R6854:Atp4a	UTSW	7	30715008	missense	probably benign	0.29
R7215:Atp4a	UTSW	7	30717360	missense	possibly damaging	0.61
R7271:Atp4a	UTSW	7	30722519	missense	probably benign	0.16
R7340:Atp4a	UTSW	7	30716730	missense	possibly damaging	0.94
R7457:Atp4a	UTSW	7	30720767	missense	probably benign	0.08
R7593:Atp4a	UTSW	7	30724680	missense	probably benign	0.08
R7712:Atp4a	UTSW	7	30715553	missense	probably damaging	0.96
R7762:Atp4a	UTSW	7	30720036	missense	probably damaging	0.96
R8714:Atp4a	UTSW	7	30720588	missense	probably damaging	0.99
R9324:Atp4a	UTSW	7	30715782	missense	probably benign	0.02
Z1177:Atp4a	UTSW	7	30717840	missense	possibly damaging	0.47
Z1186:Atp4a	UTSW	7	30717357	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGATGGATTCAAGATCTGGC -3'
(R):5'- CAAACAGCTTAGCCGGGAAG -3'

Sequencing Primer
(F):5'- GGCATCCAGGGACCTGATTATTTC -3'
(R):5'- TTAGCCGGGAAGCATCCTTC -3'

Posted On

2016-04-15