Mutagenetix > Incidental Mutation

Incidental Mutation 'R8743:Atp4b'

663350

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

068588-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8743 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13436209-13446778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13443489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 63 (M63K)

Ref Sequence

ENSEMBL: ENSMUSP00000033826 (fasta)

Gene Model

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

AlphaFold

P50992

Predicted Effect

probably damaging
Transcript: ENSMUST00000033826
AA Change: M63K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033826
Gene: ENSMUSG00000031449
AA Change: M63K

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

0.8565

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.7%

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 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,276,264 (GRCm39)	C468S	probably damaging	Het
Adamts7	G	A	9: 90,077,296 (GRCm39)	R1321H	probably damaging	Het
Adra2c	T	C	5: 35,437,792 (GRCm39)	V188A	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ap1g1	A	G	8: 110,564,423 (GRCm39)	N323D	probably damaging	Het
Arhgap15	A	T	2: 43,638,876 (GRCm39)		probably benign	Het
Arhgef33	T	C	17: 80,667,882 (GRCm39)		probably null	Het
Armc1	C	T	3: 19,211,700 (GRCm39)	C40Y	probably benign	Het
Arsk	C	A	13: 76,214,928 (GRCm39)	V309F	probably damaging	Het
Cacna1s	T	C	1: 136,033,286 (GRCm39)	L1237P	probably damaging	Het
Ccnt2	A	G	1: 127,702,020 (GRCm39)	E19G	probably damaging	Het
Ccr2	A	C	9: 123,906,131 (GRCm39)	Y137S	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Cfh	A	T	1: 140,046,323 (GRCm39)		probably null	Het
Chd5	T	A	4: 152,450,862 (GRCm39)	V662E	probably benign	Het
Cnga4	A	G	7: 105,057,220 (GRCm39)	D544G	probably benign	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Coro6	T	A	11: 77,357,265 (GRCm39)	I158N	probably damaging	Het
Cpa1	A	G	6: 30,642,992 (GRCm39)	S307G	probably damaging	Het
Depdc5	T	A	5: 33,081,587 (GRCm39)	M583K	probably benign	Het
Dock2	G	T	11: 34,223,252 (GRCm39)	S1170*	probably null	Het
Dusp16	A	T	6: 134,694,933 (GRCm39)	S633T	probably benign	Het
Esco1	T	C	18: 10,572,123 (GRCm39)	E739G	probably damaging	Het
Fam193a	T	A	5: 34,577,501 (GRCm39)		probably null	Het
Fat4	G	A	3: 38,942,592 (GRCm39)	S495N	probably benign	Het
Galnt10	A	G	11: 57,675,409 (GRCm39)	Y556C	probably damaging	Het
Garin5b	T	A	7: 4,760,814 (GRCm39)	T633S		Het
Gc	A	T	5: 89,591,311 (GRCm39)	D142E	probably benign	Het
Gda	A	T	19: 21,377,952 (GRCm39)	F369Y	probably damaging	Het
Glce	A	T	9: 61,968,103 (GRCm39)	S349R	probably benign	Het
Glp2r	A	G	11: 67,612,901 (GRCm39)	L351P	probably damaging	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Gxylt2	A	T	6: 100,764,284 (GRCm39)	Y323F	probably benign	Het
Hmmr	T	C	11: 40,598,858 (GRCm39)	N589D	probably damaging	Het
Hsd17b3	A	C	13: 64,210,712 (GRCm39)	D214E	probably benign	Het
Kat6a	A	G	8: 23,429,022 (GRCm39)	D1459G	possibly damaging	Het
Lad1	G	A	1: 135,758,933 (GRCm39)	R465H	probably benign	Het
Lcmt1	T	A	7: 122,999,691 (GRCm39)	D46E	probably damaging	Het
Map4k1	G	A	7: 28,686,542 (GRCm39)	D155N	probably damaging	Het
Mylk	G	T	16: 34,741,427 (GRCm39)	R796L	probably benign	Het
Nat8l	T	A	5: 34,154,510 (GRCm39)	L108Q	probably damaging	Het
Nlrp5	T	C	7: 23,118,172 (GRCm39)	V632A	probably benign	Het
Nr3c2	A	G	8: 77,636,387 (GRCm39)	E496G	probably damaging	Het
Nucb2	A	G	7: 116,128,065 (GRCm39)	D258G	probably damaging	Het
Or8b12	G	T	9: 37,658,174 (GRCm39)	C248F	probably benign	Het
Or8b56	A	T	9: 38,738,995 (GRCm39)	I3F	probably benign	Het
Papln	A	G	12: 83,829,764 (GRCm39)	K962E	probably damaging	Het
Pcdha8	T	A	18: 37,127,372 (GRCm39)	M618K	probably benign	Het
Pclo	A	G	5: 14,764,580 (GRCm39)	D1066G		Het
Phip	A	T	9: 82,809,140 (GRCm39)	M446K	probably benign	Het
Pkn3	A	G	2: 29,973,318 (GRCm39)	K380R	probably benign	Het
Potefam1	T	C	2: 111,000,017 (GRCm39)	T198A	unknown	Het
Ppa1	C	A	10: 61,496,758 (GRCm39)	A82E	possibly damaging	Het
Prune2	A	C	19: 17,096,920 (GRCm39)	D808A	probably benign	Het
Psme4	T	G	11: 30,828,467 (GRCm39)	L1829R	probably damaging	Het
Rtp4	A	C	16: 23,431,866 (GRCm39)	K133Q	possibly damaging	Het
Scaf11	C	T	15: 96,313,669 (GRCm39)	A1371T	probably benign	Het
Serpinb9g	A	T	13: 33,678,931 (GRCm39)	H267L	probably benign	Het
Slc47a2	T	G	11: 61,233,588 (GRCm39)	D6A	probably benign	Het
Slco1a4	A	T	6: 141,765,255 (GRCm39)	V329D	possibly damaging	Het
Smg6	T	C	11: 74,820,859 (GRCm39)	S377P	probably benign	Het
Spata31g1	A	G	4: 42,971,030 (GRCm39)	H121R	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Taar2	A	T	10: 23,817,369 (GRCm39)	Y303F	probably damaging	Het
Tgm6	A	G	2: 129,985,418 (GRCm39)	D407G	probably damaging	Het
Twf2	A	G	9: 106,090,010 (GRCm39)	E153G	possibly damaging	Het
Upb1	A	G	10: 75,275,710 (GRCm39)	Y365C	probably damaging	Het
Vmn2r4	A	T	3: 64,317,247 (GRCm39)	S164T	possibly damaging	Het
Wtip	C	T	7: 33,824,979 (GRCm39)	G202R	possibly damaging	Het
Zfhx4	G	A	3: 5,309,084 (GRCm39)	C770Y	probably 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
R4681:Atp4b	UTSW	8	13,439,700 (GRCm39)	missense	probably benign	0.01
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
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'- AATTTGGGGTCATTGTTCCTCTCAG -3'
(R):5'- ATGCACATGCCCTGTAGCTC -3'

Sequencing Primer
(F):5'- CTCTCAGGAATCTGTGGGGAC -3'
(R):5'- CCAAAGAGCTCAGAGATTCTGCTTG -3'

Posted On

2021-03-08