Mutagenetix > Incidental Mutation

Incidental Mutation 'R3754:Atp12a'

271363

Institutional Source

Beutler Lab

Gene Symbol

Atp12a

Ensembl Gene

ENSMUSG00000022229

Gene Name

ATPase, H+/K+ transporting, nongastric, alpha polypeptide

Synonyms

cHKA, Atp1al1, HKalpha2, ATPase H+K+-transporting, alpha 2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3754 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56602525-56626007 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56610045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 182 (V182I)

Ref Sequence

ENSEMBL: ENSMUSP00000007340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007340]

AlphaFold

Q9Z1W8

Predicted Effect

probably benign
Transcript: ENSMUST00000007340
AA Change: V182I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: V182I

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
Cation_ATPase_N	54	128	9.27e-15	SMART
Pfam:E1-E2_ATPase	145	376	9.8e-57	PFAM
Pfam:Hydrolase	381	740	7.8e-20	PFAM
Pfam:HAD	384	737	7.6e-19	PFAM
Pfam:Cation_ATPase	437	532	3.4e-26	PFAM
Pfam:Cation_ATPase_C	810	1020	9.9e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225567

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225698

Coding Region Coverage

1x: 99.0%
3x: 98.4%
10x: 96.7%
20x: 93.1%

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 the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous mutation of this gene results in increased potassium excretion. When placed on a potassium-free diet, mutant animals display greater weight loss and slightly increased kidney weight compared to wild-type. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap3	T	C	4: 135,956,766 (GRCm39)		probably null	Het
Gad2	A	T	2: 22,571,352 (GRCm39)	D430V	possibly damaging	Het
Hr	A	G	14: 70,805,264 (GRCm39)	E1002G	probably damaging	Het
Itpkc	G	T	7: 26,927,857 (GRCm39)	P19Q	probably damaging	Het
Lrrc72	A	G	12: 36,262,567 (GRCm39)	S42P	probably benign	Het
Med1	A	G	11: 98,057,548 (GRCm39)	V318A	possibly damaging	Het
Myef2l	G	A	3: 10,153,575 (GRCm39)	V115I	possibly damaging	Het
Nek11	A	T	9: 105,191,917 (GRCm39)	N164K	probably damaging	Het
Neurod2	A	G	11: 98,218,526 (GRCm39)	S213P	probably damaging	Het
Nhsl1	A	G	10: 18,391,782 (GRCm39)	N179D	probably damaging	Het
Nr2f2	T	C	7: 70,007,769 (GRCm39)	I238V	probably benign	Het
Rpl37	C	A	15: 5,146,770 (GRCm39)	T2K	possibly damaging	Het
Slf2	A	G	19: 44,961,676 (GRCm39)	D1065G	probably benign	Het
Smim5	T	C	11: 115,796,549 (GRCm39)	C57R	probably damaging	Het
Soat2	T	A	15: 102,065,513 (GRCm39)	V236D	probably damaging	Het
Teddm3	C	T	16: 20,971,898 (GRCm39)	D224N	possibly damaging	Het
Tm2d2	G	A	8: 25,510,494 (GRCm39)	V118I	probably damaging	Het
Ttc22	C	A	4: 106,496,278 (GRCm39)	R443S	probably damaging	Het
Upf1	A	G	8: 70,792,464 (GRCm39)	I368T	probably benign	Het
Xrn1	G	T	9: 95,849,841 (GRCm39)	D129Y	probably damaging	Het
Zfp109	A	G	7: 23,929,181 (GRCm39)	M76T	probably benign	Het
Znrf1	G	A	8: 112,345,843 (GRCm39)	V76M	probably damaging	Het

Other mutations in Atp12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Atp12a	APN	14	56,617,412 (GRCm39)	missense	probably damaging	1.00
IGL02108:Atp12a	APN	14	56,621,525 (GRCm39)	missense	possibly damaging	0.95
IGL02176:Atp12a	APN	14	56,624,636 (GRCm39)	missense	probably damaging	1.00
IGL02210:Atp12a	APN	14	56,609,201 (GRCm39)	nonsense	probably null
IGL02828:Atp12a	APN	14	56,613,599 (GRCm39)	missense	possibly damaging	0.72
IGL02868:Atp12a	APN	14	56,621,639 (GRCm39)	missense	probably damaging	1.00
IGL02876:Atp12a	APN	14	56,610,746 (GRCm39)	missense	probably benign	0.00
R0045:Atp12a	UTSW	14	56,610,330 (GRCm39)	missense	probably damaging	1.00
R0172:Atp12a	UTSW	14	56,610,301 (GRCm39)	missense	probably damaging	1.00
R0276:Atp12a	UTSW	14	56,625,151 (GRCm39)	missense	probably damaging	1.00
R0613:Atp12a	UTSW	14	56,611,978 (GRCm39)	missense	probably damaging	1.00
R0656:Atp12a	UTSW	14	56,611,938 (GRCm39)	missense	probably damaging	1.00
R0962:Atp12a	UTSW	14	56,605,870 (GRCm39)	missense	probably damaging	1.00
R1067:Atp12a	UTSW	14	56,610,893 (GRCm39)	missense	probably damaging	1.00
R1448:Atp12a	UTSW	14	56,623,296 (GRCm39)	missense	probably damaging	1.00
R1503:Atp12a	UTSW	14	56,610,881 (GRCm39)	missense	probably damaging	1.00
R1590:Atp12a	UTSW	14	56,617,512 (GRCm39)	missense	probably damaging	1.00
R1639:Atp12a	UTSW	14	56,621,525 (GRCm39)	missense	possibly damaging	0.95
R1660:Atp12a	UTSW	14	56,608,305 (GRCm39)	missense	probably benign	0.21
R1696:Atp12a	UTSW	14	56,603,545 (GRCm39)	missense	probably damaging	1.00
R1775:Atp12a	UTSW	14	56,610,046 (GRCm39)	missense	probably benign	0.23
R1920:Atp12a	UTSW	14	56,624,308 (GRCm39)	missense	probably benign	0.19
R2022:Atp12a	UTSW	14	56,602,739 (GRCm39)	start codon destroyed	probably null
R2071:Atp12a	UTSW	14	56,603,466 (GRCm39)	missense	probably benign
R2253:Atp12a	UTSW	14	56,613,715 (GRCm39)	missense	probably benign	0.03
R2289:Atp12a	UTSW	14	56,610,719 (GRCm39)	missense	possibly damaging	0.93
R2567:Atp12a	UTSW	14	56,624,384 (GRCm39)	missense	probably damaging	1.00
R2870:Atp12a	UTSW	14	56,624,407 (GRCm39)	missense	possibly damaging	0.94
R2870:Atp12a	UTSW	14	56,624,407 (GRCm39)	missense	possibly damaging	0.94
R2872:Atp12a	UTSW	14	56,624,407 (GRCm39)	missense	possibly damaging	0.94
R2872:Atp12a	UTSW	14	56,624,407 (GRCm39)	missense	possibly damaging	0.94
R2873:Atp12a	UTSW	14	56,624,407 (GRCm39)	missense	possibly damaging	0.94
R2923:Atp12a	UTSW	14	56,612,079 (GRCm39)	missense	probably benign
R3736:Atp12a	UTSW	14	56,611,884 (GRCm39)	missense	possibly damaging	0.90
R5028:Atp12a	UTSW	14	56,624,435 (GRCm39)	missense	probably damaging	0.96
R5267:Atp12a	UTSW	14	56,621,668 (GRCm39)	missense	probably damaging	1.00
R5481:Atp12a	UTSW	14	56,610,846 (GRCm39)	missense	possibly damaging	0.90
R5590:Atp12a	UTSW	14	56,610,837 (GRCm39)	missense	probably benign	0.11
R5842:Atp12a	UTSW	14	56,615,747 (GRCm39)	missense	probably damaging	0.96
R5899:Atp12a	UTSW	14	56,610,801 (GRCm39)	missense	probably benign	0.44
R5985:Atp12a	UTSW	14	56,621,798 (GRCm39)	missense	probably damaging	1.00
R6044:Atp12a	UTSW	14	56,613,612 (GRCm39)	missense	probably damaging	1.00
R6271:Atp12a	UTSW	14	56,615,879 (GRCm39)	missense	probably benign	0.00
R6454:Atp12a	UTSW	14	56,608,290 (GRCm39)	missense	probably benign	0.02
R6461:Atp12a	UTSW	14	56,610,695 (GRCm39)	missense	probably damaging	1.00
R6610:Atp12a	UTSW	14	56,612,013 (GRCm39)	missense	probably damaging	1.00
R6666:Atp12a	UTSW	14	56,610,821 (GRCm39)	missense	probably benign	0.36
R6667:Atp12a	UTSW	14	56,621,645 (GRCm39)	missense	possibly damaging	0.82
R6677:Atp12a	UTSW	14	56,618,311 (GRCm39)	missense	probably damaging	1.00
R6791:Atp12a	UTSW	14	56,624,439 (GRCm39)	critical splice donor site	probably null
R7003:Atp12a	UTSW	14	56,610,837 (GRCm39)	missense	possibly damaging	0.87
R7173:Atp12a	UTSW	14	56,621,837 (GRCm39)	missense	probably damaging	1.00
R7523:Atp12a	UTSW	14	56,603,425 (GRCm39)	missense	possibly damaging	0.85
R8063:Atp12a	UTSW	14	56,603,545 (GRCm39)	missense	probably damaging	1.00
R8376:Atp12a	UTSW	14	56,612,083 (GRCm39)	critical splice donor site	probably null
R8670:Atp12a	UTSW	14	56,617,546 (GRCm39)	missense	probably damaging	1.00
X0004:Atp12a	UTSW	14	56,615,924 (GRCm39)	missense	probably benign	0.16
Z1088:Atp12a	UTSW	14	56,623,598 (GRCm39)	missense	probably benign	0.19
Z1176:Atp12a	UTSW	14	56,610,163 (GRCm39)	missense	probably damaging	1.00
Z1177:Atp12a	UTSW	14	56,610,672 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTCCAAGAACAGACCTCAAG -3'
(R):5'- TTTTCAAAATAGGGAGAGGGTTGC -3'

Sequencing Primer
(F):5'- AAAATAGTTCTCAGGGTCCCG -3'
(R):5'- GGTTGCCGGGTGTCTCC -3'

Posted On

2015-03-18