Mutagenetix > Incidental Mutation

Incidental Mutation 'R4681:Atp4b'

350030

Institutional Source

Beutler Lab

Gene Symbol

Atp4b

Ensembl Gene

ENSMUSG00000031449

Gene Name

ATPase, H+/K+ exchanging, beta polypeptide

Synonyms

H+/K+-ATPase beta, H,K-ATPase-Beta, H+,K+-ATPase

MMRRC Submission

042015-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4681 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

13436209-13446778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13439700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 174 (E174G)

Ref Sequence

ENSEMBL: ENSMUSP00000033826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033826]

AlphaFold

P50992

Predicted Effect

probably benign
Transcript: ENSMUST00000033826
AA Change: E174G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000033826
Gene: ENSMUSG00000031449
AA Change: E174G

Domain	Start	End	E-Value	Type
Pfam:Na_K-ATPase	7	288	5.7e-108	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211331

Meta Mutation Damage Score

0.1736

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (59/59)

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 the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are superficially normal but have hypertrophied stomach mucosa, neutral luminal pH in the stomach, and hypergastrinemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	G	T	1: 179,580,361 (GRCm39)	T1947K	probably benign	Het
Ak9	A	C	10: 41,303,234 (GRCm39)	K1669T	unknown	Het
Bcl6	A	G	16: 23,787,203 (GRCm39)		probably benign	Het
Brca2	C	G	5: 150,475,863 (GRCm39)		probably null	Het
Btnl4	A	T	17: 34,689,075 (GRCm39)		probably null	Het
C4a	G	T	17: 35,036,075 (GRCm39)		noncoding transcript	Het
Cab39l	A	G	14: 59,737,054 (GRCm39)	D58G	probably benign	Het
Cacna2d3	A	T	14: 29,015,092 (GRCm39)	M100K	probably damaging	Het
Car2	T	A	3: 14,960,624 (GRCm39)	Y127*	probably null	Het
Cdhr1	T	C	14: 36,818,194 (GRCm39)	N86S	probably benign	Het
Celsr3	A	G	9: 108,704,953 (GRCm39)	I479V	possibly damaging	Het
Cfhr1	A	T	1: 139,478,667 (GRCm39)	Y53*	probably null	Het
Cgrrf1	A	G	14: 47,091,283 (GRCm39)	E269G	probably benign	Het
Cimap3	C	A	3: 105,905,701 (GRCm39)	G148C	probably damaging	Het
Clcn7	A	T	17: 25,376,935 (GRCm39)	H636L	probably damaging	Het
Cox10	T	G	11: 63,867,277 (GRCm39)	T240P	possibly damaging	Het
Crybg2	CTTCCAGAGCCATGGACCCATCTTTTCCA	CTTCCA	4: 133,800,029 (GRCm39)		probably null	Het
Dbt	A	G	3: 116,326,963 (GRCm39)	D104G	probably damaging	Het
F730035P03Rik	T	C	7: 99,429,425 (GRCm39)		noncoding transcript	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam186b	T	C	15: 99,178,771 (GRCm39)	K185R	probably benign	Het
Fat4	T	C	3: 38,941,491 (GRCm39)	L128P	probably damaging	Het
Gbf1	A	T	19: 46,268,989 (GRCm39)	Q1381L	probably benign	Het
Glp2r	C	T	11: 67,621,453 (GRCm39)		probably null	Het
Gm18025	A	G	12: 34,340,884 (GRCm39)	S70P	probably benign	Het
Gpr45	A	G	1: 43,072,068 (GRCm39)	D237G	probably benign	Het
Hectd4	A	T	5: 121,441,678 (GRCm39)	L1213F	possibly damaging	Het
Hydin	T	C	8: 111,233,103 (GRCm39)	V1734A	possibly damaging	Het
Kcnh5	A	T	12: 75,054,397 (GRCm39)	S516T	probably benign	Het
Liph	A	C	16: 21,802,777 (GRCm39)	S97R	probably benign	Het
Mtcl1	T	C	17: 66,756,139 (GRCm39)	T68A	unknown	Het
Nsun7	T	A	5: 66,418,542 (GRCm39)	S91T	probably benign	Het
Or5an10	T	C	19: 12,276,413 (GRCm39)	T28A	probably benign	Het
Or6c75	A	G	10: 129,337,433 (GRCm39)	I227V	probably damaging	Het
Pcdh20	A	T	14: 88,705,052 (GRCm39)	N749K	probably damaging	Het
Pot1b	A	T	17: 55,961,831 (GRCm39)	D582E	probably benign	Het
Pxdn	T	C	12: 30,062,325 (GRCm39)	I1212T	probably benign	Het
Ramp1	T	C	1: 91,124,511 (GRCm39)	V24A	probably benign	Het
S100a8	T	A	3: 90,576,890 (GRCm39)	D14E	probably benign	Het
Stk31	A	G	6: 49,414,369 (GRCm39)	D501G	probably benign	Het
Tbc1d19	G	A	5: 54,029,595 (GRCm39)	V319M	probably damaging	Het
Tbcel	G	T	9: 42,361,268 (GRCm39)	H93Q	probably damaging	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Trpm8	A	T	1: 88,312,427 (GRCm39)	I1103F	possibly damaging	Het
Ttc19	T	A	11: 62,199,917 (GRCm39)	C112*	probably null	Het
Unc5c	T	G	3: 141,474,374 (GRCm39)		probably null	Het
Urb1	A	T	16: 90,601,425 (GRCm39)	H115Q	probably damaging	Het
Vmn2r15	T	A	5: 109,434,488 (GRCm39)	I739F	probably damaging	Het
Zcchc14	G	T	8: 122,335,339 (GRCm39)		probably benign	Het
Zfp408	G	A	2: 91,476,131 (GRCm39)	P341L	probably damaging	Het
Zfp638	G	A	6: 83,958,719 (GRCm39)	V1166M	possibly damaging	Het

Other mutations in Atp4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Atp4b	APN	8	13,439,679 (GRCm39)	missense	probably damaging	1.00
IGL02596:Atp4b	APN	8	13,443,471 (GRCm39)	missense	possibly damaging	0.87
R0558:Atp4b	UTSW	8	13,443,523 (GRCm39)	missense	possibly damaging	0.62
R0829:Atp4b	UTSW	8	13,440,098 (GRCm39)	missense	probably damaging	1.00
R0963:Atp4b	UTSW	8	13,440,014 (GRCm39)	missense	probably benign	0.00
R1528:Atp4b	UTSW	8	13,439,693 (GRCm39)	missense	possibly damaging	0.78
R1605:Atp4b	UTSW	8	13,443,489 (GRCm39)	missense	probably damaging	1.00
R2022:Atp4b	UTSW	8	13,437,477 (GRCm39)	missense	possibly damaging	0.88
R3824:Atp4b	UTSW	8	13,443,549 (GRCm39)	missense	probably damaging	1.00
R3825:Atp4b	UTSW	8	13,443,549 (GRCm39)	missense	probably damaging	1.00
R4108:Atp4b	UTSW	8	13,446,640 (GRCm39)	critical splice donor site	probably null
R4400:Atp4b	UTSW	8	13,438,810 (GRCm39)	missense	probably damaging	1.00
R4606:Atp4b	UTSW	8	13,439,998 (GRCm39)	missense	probably damaging	1.00
R6056:Atp4b	UTSW	8	13,438,782 (GRCm39)	missense	probably damaging	1.00
R7485:Atp4b	UTSW	8	13,436,732 (GRCm39)	missense	probably benign
R7888:Atp4b	UTSW	8	13,439,811 (GRCm39)	missense	probably damaging	0.98
R8743:Atp4b	UTSW	8	13,443,489 (GRCm39)	missense	probably damaging	1.00
R8896:Atp4b	UTSW	8	13,437,514 (GRCm39)	missense	probably benign	0.00
R9523:Atp4b	UTSW	8	13,436,746 (GRCm39)	missense	probably damaging	0.99
R9742:Atp4b	UTSW	8	13,440,097 (GRCm39)	missense	probably damaging	1.00
Z1177:Atp4b	UTSW	8	13,446,684 (GRCm39)	small deletion	probably benign
Z1177:Atp4b	UTSW	8	13,439,794 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGAGCCCATGTAGAATACCC -3'
(R):5'- GTGTTCTACAGGCTATACCCCAG -3'

Sequencing Primer
(F):5'- TGCTTCTCCAGTCTGAATCAACAAC -3'
(R):5'- GGCTATACCCCAGCATCCCAG -3'

Posted On

2015-10-08