Mutagenetix > Incidental Mutation

Incidental Mutation 'R2990:Atp4a'

257884

Institutional Source

Beutler Lab

Gene Symbol

Atp4a

Ensembl Gene

ENSMUSG00000005553

Gene Name

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

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R2990 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

30411634-30424959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30419650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 671 (R671Q)

Ref Sequence

ENSEMBL: ENSMUSP00000131964 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000005692
AA Change: R671Q

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000005692
Gene: ENSMUSG00000005553
AA Change: R671Q

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

probably benign
Transcript: ENSMUST00000170371
AA Change: R671Q

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131964
Gene: ENSMUSG00000005553
AA Change: R671Q

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cul7	C	G	17: 46,962,526 (GRCm39)	D52E	probably benign	Het
Eipr1	C	T	12: 28,909,267 (GRCm39)	T178I	probably benign	Het
Fzd1	A	G	5: 4,805,758 (GRCm39)	V608A	probably damaging	Het
Gimap3	G	T	6: 48,742,785 (GRCm39)	F48L	probably damaging	Het
Itfg1	T	C	8: 86,561,678 (GRCm39)	T152A	possibly damaging	Het
Katnbl1	G	T	2: 112,234,585 (GRCm39)	K22N	probably damaging	Het
Lipm	A	G	19: 34,093,886 (GRCm39)	I268V	probably benign	Het
Mapk8ip3	T	C	17: 25,124,266 (GRCm39)	I516V	probably benign	Het
Myo9a	T	C	9: 59,832,172 (GRCm39)	L2567P	possibly damaging	Het
Npy	A	G	6: 49,804,492 (GRCm39)	E71G	possibly damaging	Het
Parp2	A	G	14: 51,054,457 (GRCm39)	T203A	probably benign	Het
Rprd1a	A	C	18: 24,639,896 (GRCm39)	L262V	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Stat5b	T	C	11: 100,699,188 (GRCm39)		probably null	Het
Syde2	T	C	3: 145,707,252 (GRCm39)	F664S	probably damaging	Het
Tenm4	G	T	7: 96,542,332 (GRCm39)		probably null	Het
Wapl	A	G	14: 34,458,665 (GRCm39)	N909S	probably damaging	Het

Other mutations in Atp4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Atp4a	APN	7	30,412,629 (GRCm39)	missense	possibly damaging	0.95
IGL01327:Atp4a	APN	7	30,412,675 (GRCm39)	missense	possibly damaging	0.96
IGL01510:Atp4a	APN	7	30,420,216 (GRCm39)	missense	probably benign	0.02
IGL01763:Atp4a	APN	7	30,414,943 (GRCm39)	missense	probably benign	0.20
IGL02061:Atp4a	APN	7	30,414,454 (GRCm39)	missense	probably damaging	1.00
IGL02435:Atp4a	APN	7	30,416,482 (GRCm39)	missense	probably benign
IGL02903:Atp4a	APN	7	30,415,344 (GRCm39)	missense	probably benign	0.00
IGL03181:Atp4a	APN	7	30,424,129 (GRCm39)	missense	probably benign	0.02
IGL03350:Atp4a	APN	7	30,420,292 (GRCm39)	missense	probably damaging	1.00
atypical	UTSW	7	30,414,781 (GRCm39)	missense	possibly damaging	0.84
sublytic	UTSW	7	30,415,225 (GRCm39)	missense	probably benign	0.32
IGL03097:Atp4a	UTSW	7	30,422,462 (GRCm39)	missense	probably benign	0.14
R0095:Atp4a	UTSW	7	30,420,160 (GRCm39)	missense	probably damaging	0.99
R0121:Atp4a	UTSW	7	30,419,526 (GRCm39)	missense	probably benign	0.00
R0140:Atp4a	UTSW	7	30,419,526 (GRCm39)	missense	probably benign	0.00
R0241:Atp4a	UTSW	7	30,416,560 (GRCm39)	missense	probably benign	0.00
R0437:Atp4a	UTSW	7	30,419,526 (GRCm39)	missense	probably benign	0.00
R0624:Atp4a	UTSW	7	30,418,424 (GRCm39)	missense	probably benign
R1164:Atp4a	UTSW	7	30,417,117 (GRCm39)	missense	probably benign	0.00
R2105:Atp4a	UTSW	7	30,419,793 (GRCm39)	critical splice donor site	probably null
R2272:Atp4a	UTSW	7	30,414,925 (GRCm39)	nonsense	probably null
R2327:Atp4a	UTSW	7	30,419,666 (GRCm39)	missense	probably benign	0.16
R2881:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R2992:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R2993:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R3123:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R3125:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R3441:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R3442:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R3686:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R3687:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R3845:Atp4a	UTSW	7	30,416,540 (GRCm39)	missense	probably null	0.99
R4027:Atp4a	UTSW	7	30,424,377 (GRCm39)	splice site	probably null
R4072:Atp4a	UTSW	7	30,414,757 (GRCm39)	missense	probably benign	0.09
R4433:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R4454:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R4457:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R4458:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R4510:Atp4a	UTSW	7	30,423,678 (GRCm39)	nonsense	probably null
R4511:Atp4a	UTSW	7	30,423,678 (GRCm39)	nonsense	probably null
R4576:Atp4a	UTSW	7	30,417,147 (GRCm39)	missense	probably benign	0.25
R4656:Atp4a	UTSW	7	30,419,373 (GRCm39)	intron	probably benign
R4661:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R4662:Atp4a	UTSW	7	30,419,650 (GRCm39)	missense	probably benign	0.16
R4852:Atp4a	UTSW	7	30,423,693 (GRCm39)	missense	probably benign	0.10
R4892:Atp4a	UTSW	7	30,411,899 (GRCm39)	missense	probably benign	0.07
R4907:Atp4a	UTSW	7	30,418,517 (GRCm39)	missense	possibly damaging	0.66
R5024:Atp4a	UTSW	7	30,415,289 (GRCm39)	missense	possibly damaging	0.82
R5254:Atp4a	UTSW	7	30,414,955 (GRCm39)	missense	probably damaging	1.00
R5318:Atp4a	UTSW	7	30,414,754 (GRCm39)	missense	probably damaging	1.00
R5340:Atp4a	UTSW	7	30,420,231 (GRCm39)	missense	probably benign
R5484:Atp4a	UTSW	7	30,420,097 (GRCm39)	unclassified	probably benign
R5729:Atp4a	UTSW	7	30,411,851 (GRCm39)	missense	possibly damaging	0.48
R5762:Atp4a	UTSW	7	30,418,521 (GRCm39)	missense	probably damaging	0.99
R5797:Atp4a	UTSW	7	30,412,074 (GRCm39)	missense	probably damaging	1.00
R6030:Atp4a	UTSW	7	30,421,941 (GRCm39)	missense	probably damaging	0.99
R6030:Atp4a	UTSW	7	30,421,941 (GRCm39)	missense	probably damaging	0.99
R6077:Atp4a	UTSW	7	30,415,344 (GRCm39)	missense	probably benign	0.00
R6243:Atp4a	UTSW	7	30,415,382 (GRCm39)	missense	possibly damaging	0.68
R6346:Atp4a	UTSW	7	30,414,781 (GRCm39)	missense	possibly damaging	0.84
R6459:Atp4a	UTSW	7	30,411,887 (GRCm39)	missense	probably benign	0.00
R6515:Atp4a	UTSW	7	30,411,903 (GRCm39)	missense	possibly damaging	0.78
R6773:Atp4a	UTSW	7	30,414,802 (GRCm39)	missense	probably damaging	0.98
R6854:Atp4a	UTSW	7	30,414,433 (GRCm39)	missense	probably benign	0.29
R7215:Atp4a	UTSW	7	30,416,785 (GRCm39)	missense	possibly damaging	0.61
R7271:Atp4a	UTSW	7	30,421,944 (GRCm39)	missense	probably benign	0.16
R7340:Atp4a	UTSW	7	30,416,155 (GRCm39)	missense	possibly damaging	0.94
R7457:Atp4a	UTSW	7	30,420,192 (GRCm39)	missense	probably benign	0.08
R7593:Atp4a	UTSW	7	30,424,105 (GRCm39)	missense	probably benign	0.08
R7712:Atp4a	UTSW	7	30,414,978 (GRCm39)	missense	probably damaging	0.96
R7762:Atp4a	UTSW	7	30,419,461 (GRCm39)	missense	probably damaging	0.96
R8714:Atp4a	UTSW	7	30,420,013 (GRCm39)	missense	probably damaging	0.99
R9324:Atp4a	UTSW	7	30,415,207 (GRCm39)	missense	probably benign	0.02
Z1177:Atp4a	UTSW	7	30,417,265 (GRCm39)	missense	possibly damaging	0.47
Z1186:Atp4a	UTSW	7	30,416,782 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCGTGGGTATCATCTCAGAGG -3'
(R):5'- TCCATGGTTAGAAAGACAGCCC -3'

Sequencing Primer
(F):5'- TATCATCTCAGAGGGCAGCG -3'
(R):5'- GACAGCCCAGCCCATCTG -3'

Posted On

2015-01-11