Mutagenetix > Incidental Mutation

Incidental Mutation 'R2872:Atp12a'

266696

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

MMRRC Submission

040460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56602525-56626007 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56624407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 952 (R952G)

Ref Sequence

ENSEMBL: ENSMUSP00000007340 (fasta)

Gene Model

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

AlphaFold

Q9Z1W8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007340
AA Change: R952G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: R952G

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

Meta Mutation Damage Score

0.4797

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (72/73)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,201,530 (GRCm39)		probably benign	Het
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Ak8	T	C	2: 28,632,732 (GRCm39)	I317T	possibly damaging	Het
Akr1e1	G	A	13: 4,652,683 (GRCm39)		silent	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Carmil1	G	A	13: 24,229,051 (GRCm39)		silent	Het
Cilk1	A	T	9: 78,047,382 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Ctnnd1	C	T	2: 84,451,232 (GRCm39)	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm37340	G	A	2: 6,955,739 (GRCm39)		probably benign	Het
Gpr156	T	A	16: 37,812,585 (GRCm39)	V307D	probably damaging	Het
Gpr35	G	A	1: 92,910,848 (GRCm39)	V187I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Hdac10	G	T	15: 89,010,059 (GRCm39)	Q300K	possibly damaging	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,233,519 (GRCm39)	I340V	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Knop1	T	C	7: 118,455,186 (GRCm39)		probably null	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	T	C	8: 71,743,610 (GRCm39)	Y224H	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Ndufs1	A	G	1: 63,203,882 (GRCm39)		probably benign	Het
Nlrc3	T	C	16: 3,775,190 (GRCm39)	D774G	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nsun2	A	G	13: 69,777,801 (GRCm39)	T425A	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or1o4	A	G	17: 37,590,867 (GRCm39)	V148A	possibly damaging	Het
Or52u1	T	C	7: 104,237,700 (GRCm39)	S230P	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Paqr5	A	T	9: 61,876,061 (GRCm39)		probably null	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,764,903 (GRCm39)	V1332I	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg1	T	G	10: 3,913,982 (GRCm39)	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Plxna3	T	A	X: 73,383,002 (GRCm39)		probably benign	Homo
Polg2	A	G	11: 106,666,251 (GRCm39)		probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Prps1	C	T	X: 139,372,743 (GRCm39)		probably benign	Homo
Rapgef6	T	A	11: 54,552,001 (GRCm39)	F956L	probably damaging	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,295,225 (GRCm39)	W792*	probably null	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc6a9	T	A	4: 117,706,578 (GRCm39)	M1K	probably null	Het
Smpdl3a	T	A	10: 57,678,626 (GRCm39)	F143Y	possibly damaging	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,733,735 (GRCm39)	F137I	probably benign	Het
Tgm7	G	A	2: 120,940,174 (GRCm39)		probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Ttn	A	G	2: 76,581,195 (GRCm39)	S23233P	probably damaging	Het
Uevld	T	C	7: 46,597,693 (GRCm39)	D154G	probably null	Het
Zfp292	G	A	4: 34,808,595 (GRCm39)	T1483M	probably damaging	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	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
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
R3754:Atp12a	UTSW	14	56,610,045 (GRCm39)	missense	probably benign	0.01
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'- GTGGAAGTAAGCCAACAGCCAC -3'
(R):5'- ATTTCCAAGGCCATGCACCC -3'

Sequencing Primer
(F):5'- GCCACAATGGGGCAATATAAATTAC -3'
(R):5'- GGCCATGCACCCAACAG -3'

Posted On

2015-02-18