Mutagenetix > Incidental Mutation

Incidental Mutation 'R1775:Atp12a'

204362

Institutional Source

Beutler Lab

Gene Symbol

Atp12a

Ensembl Gene

ENSMUSG00000022229

Gene Name

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

Synonyms

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

MMRRC Submission

039806-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1775 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56365068-56388550 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56372589 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 182 (V182A)

Ref Sequence

ENSEMBL: ENSMUSP00000007340 (fasta)

Gene Model

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

AlphaFold

Q9Z1W8

Predicted Effect

probably benign
Transcript: ENSMUST00000007340
AA Change: V182A

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: V182A

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: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	A	G	12: 11,222,142 (GRCm38)	S20P	unknown	Het
4921528I07Rik	G	A	9: 114,279,318 (GRCm38)		noncoding transcript	Het
4930562C15Rik	G	A	16: 4,851,558 (GRCm38)		probably null	Het
4933427I04Rik	A	G	4: 123,860,493 (GRCm38)	T67A	possibly damaging	Het
Abcc2	A	T	19: 43,798,419 (GRCm38)	N160Y	possibly damaging	Het
Acaca	A	G	11: 84,300,422 (GRCm38)	D155G	possibly damaging	Het
Afg3l1	G	A	8: 123,492,900 (GRCm38)	R389Q	possibly damaging	Het
Ank2	G	A	3: 126,934,547 (GRCm38)	T799M	probably benign	Het
Anxa2	T	C	9: 69,488,081 (GRCm38)	Y202H	possibly damaging	Het
Arhgef33	A	G	17: 80,373,743 (GRCm38)	T771A	probably benign	Het
Birc6	T	C	17: 74,612,286 (GRCm38)	L210S	probably damaging	Het
Car3	A	G	3: 14,864,432 (GRCm38)	T73A	probably benign	Het
Cd5l	T	C	3: 87,368,659 (GRCm38)	L312P	probably damaging	Het
Celf5	A	G	10: 81,467,304 (GRCm38)		probably benign	Het
Cep290	T	A	10: 100,496,810 (GRCm38)	V257E	probably damaging	Het
Cntrob	T	C	11: 69,320,867 (GRCm38)	D177G	possibly damaging	Het
Copg2	A	T	6: 30,810,336 (GRCm38)	F658I	probably damaging	Het
Csmd3	T	C	15: 47,899,739 (GRCm38)	T1234A	probably damaging	Het
Dhx35	A	G	2: 158,806,437 (GRCm38)	T72A	probably damaging	Het
Dmrtc2	A	T	7: 24,874,367 (GRCm38)	H209L	possibly damaging	Het
Eml5	G	T	12: 98,852,704 (GRCm38)		probably null	Het
Evpl	T	C	11: 116,223,660 (GRCm38)	E1068G	possibly damaging	Het
Ezh2	A	G	6: 47,576,660 (GRCm38)	M41T	probably damaging	Het
Fmo3	A	G	1: 162,968,725 (GRCm38)	S93P	possibly damaging	Het
Gdi2	A	G	13: 3,560,018 (GRCm38)	Y213C	possibly damaging	Het
Gpr15	A	T	16: 58,718,558 (GRCm38)	I56K	probably benign	Het
Gria2	G	T	3: 80,691,338 (GRCm38)	S796R	probably benign	Het
Hectd4	T	A	5: 121,291,191 (GRCm38)		probably benign	Het
Hgfac	T	C	5: 35,042,850 (GRCm38)		probably benign	Het
Hspg2	C	T	4: 137,520,156 (GRCm38)	R1200W	probably damaging	Het
Ift52	G	A	2: 163,025,355 (GRCm38)	D78N	possibly damaging	Het
Iqca1	C	A	1: 90,081,416 (GRCm38)	W415L	probably damaging	Het
Ism1	A	T	2: 139,746,043 (GRCm38)	K236N	probably damaging	Het
Itgb6	C	T	2: 60,672,644 (GRCm38)	W43*	probably null	Het
Kcnk18	T	A	19: 59,235,341 (GRCm38)	I306N	probably damaging	Het
Kctd8	T	C	5: 69,340,560 (GRCm38)	K248E	probably damaging	Het
Layn	T	A	9: 51,059,533 (GRCm38)	I237F	probably benign	Het
Lce3f	C	T	3: 92,992,941 (GRCm38)	P23L	unknown	Het
Lct	A	G	1: 128,300,301 (GRCm38)	F1152L	probably damaging	Het
Mettl25b	A	G	3: 87,923,817 (GRCm38)	S404P	probably damaging	Het
Mxra8	T	C	4: 155,843,074 (GRCm38)	I413T	probably damaging	Het
Nedd9	A	G	13: 41,317,962 (GRCm38)	V187A	probably benign	Het
Net1	A	G	13: 3,887,642 (GRCm38)	L207P	probably damaging	Het
Neurod1	G	T	2: 79,454,437 (GRCm38)	P201T	probably benign	Het
Nlrp1b	A	G	11: 71,161,821 (GRCm38)	F927S	probably damaging	Het
Ntrk3	T	A	7: 78,356,041 (GRCm38)	H524L	possibly damaging	Het
Nup98	A	C	7: 102,134,937 (GRCm38)	S1063A	probably benign	Het
Or10ak11	T	A	4: 118,829,868 (GRCm38)	M191L	probably benign	Het
Or11h4b	G	T	14: 50,681,166 (GRCm38)	P156Q	possibly damaging	Het
Or56b1	G	A	7: 104,636,159 (GRCm38)	V162I	probably benign	Het
Or5b97	C	A	19: 12,901,235 (GRCm38)	V182F	probably benign	Het
Or5m9b	G	A	2: 86,074,760 (GRCm38)	V7I	possibly damaging	Het
Or6d15	T	C	6: 116,582,964 (GRCm38)		probably benign	Het
Pdzd2	G	A	15: 12,592,460 (GRCm38)	R33W	probably damaging	Het
Phf21a	G	A	2: 92,330,515 (GRCm38)	V243I	probably damaging	Het
Ppp1r12b	A	G	1: 134,893,348 (GRCm38)		probably null	Het
Rexo5	T	C	7: 119,845,411 (GRCm38)	V703A	probably benign	Het
Rgs4	A	G	1: 169,745,278 (GRCm38)	S30P	probably benign	Het
Rxra	C	A	2: 27,756,244 (GRCm38)	D340E	probably damaging	Het
Samhd1	A	G	2: 157,107,547 (GRCm38)	V473A	probably benign	Het
Scn3a	T	A	2: 65,472,342 (GRCm38)	K1253N	probably damaging	Het
Scn7a	T	C	2: 66,680,955 (GRCm38)	N1207S	probably benign	Het
Sec24d	T	A	3: 123,336,517 (GRCm38)	I443N	probably damaging	Het
Sema4g	T	A	19: 44,999,242 (GRCm38)		probably null	Het
Sema5b	A	G	16: 35,660,324 (GRCm38)	K787R	probably benign	Het
Serpinc1	A	G	1: 160,989,647 (GRCm38)	N104D	probably benign	Het
Sfn	T	C	4: 133,601,231 (GRCm38)	H180R	probably damaging	Het
Slc22a6	G	T	19: 8,619,107 (GRCm38)		probably null	Het
Slc9a8	T	C	2: 167,457,358 (GRCm38)	S217P	probably benign	Het
Smc6	A	G	12: 11,309,269 (GRCm38)	N965D	probably benign	Het
Sod2	T	A	17: 13,015,032 (GRCm38)	I177N	probably damaging	Het
Sp4	A	T	12: 118,299,600 (GRCm38)	I237K	probably damaging	Het
Sulf2	T	C	2: 166,079,612 (GRCm38)	K697R	probably benign	Het
Svs4	A	T	2: 164,277,085 (GRCm38)	D110E	unknown	Het
Tas1r1	T	A	4: 152,038,218 (GRCm38)	R57*	probably null	Het
Tlr5	T	C	1: 182,973,722 (GRCm38)	I197T	probably damaging	Het
Tmc3	T	C	7: 83,612,532 (GRCm38)	V606A	probably benign	Het
Tmem241	T	A	18: 12,118,412 (GRCm38)	L37F	probably damaging	Het
Tmem59l	A	T	8: 70,486,253 (GRCm38)	N90K	probably damaging	Het
Tram1	A	C	1: 13,576,456 (GRCm38)		probably benign	Het
Trim15	T	A	17: 36,865,169 (GRCm38)	H162L	probably benign	Het
Ttc28	T	A	5: 111,276,811 (GRCm38)	Y1501N	probably benign	Het
Ttc34	T	C	4: 154,862,214 (GRCm38)	V857A	probably benign	Het
Tulp4	A	G	17: 6,139,046 (GRCm38)	T48A	probably damaging	Het
Usp9y	T	C	Y: 1,368,089 (GRCm38)	E939G	probably damaging	Het
Utp20	A	G	10: 88,770,808 (GRCm38)	I1634T	probably benign	Het
Vmn2r72	T	C	7: 85,738,170 (GRCm38)	M729V	probably benign	Het
Vps13c	C	T	9: 67,881,447 (GRCm38)	T334M	probably damaging	Het
Wnk4	C	G	11: 101,276,340 (GRCm38)		probably benign	Het
Xpo1	A	G	11: 23,271,193 (GRCm38)	N97D	probably benign	Het
Xpo4	A	T	14: 57,603,672 (GRCm38)	F518Y	probably benign	Het
Zfp668	C	T	7: 127,866,606 (GRCm38)	V469I	possibly damaging	Het
Zfp85	C	A	13: 67,749,704 (GRCm38)	C83F	probably damaging	Het

Other mutations in Atp12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Atp12a	APN	14	56,379,955 (GRCm38)	missense	probably damaging	1.00
IGL02108:Atp12a	APN	14	56,384,068 (GRCm38)	missense	possibly damaging	0.95
IGL02176:Atp12a	APN	14	56,387,179 (GRCm38)	missense	probably damaging	1.00
IGL02210:Atp12a	APN	14	56,371,744 (GRCm38)	nonsense	probably null
IGL02828:Atp12a	APN	14	56,376,142 (GRCm38)	missense	possibly damaging	0.72
IGL02868:Atp12a	APN	14	56,384,182 (GRCm38)	missense	probably damaging	1.00
IGL02876:Atp12a	APN	14	56,373,289 (GRCm38)	missense	probably benign	0.00
R0045:Atp12a	UTSW	14	56,372,873 (GRCm38)	missense	probably damaging	1.00
R0172:Atp12a	UTSW	14	56,372,844 (GRCm38)	missense	probably damaging	1.00
R0276:Atp12a	UTSW	14	56,387,694 (GRCm38)	missense	probably damaging	1.00
R0613:Atp12a	UTSW	14	56,374,521 (GRCm38)	missense	probably damaging	1.00
R0656:Atp12a	UTSW	14	56,374,481 (GRCm38)	missense	probably damaging	1.00
R0962:Atp12a	UTSW	14	56,368,413 (GRCm38)	missense	probably damaging	1.00
R1067:Atp12a	UTSW	14	56,373,436 (GRCm38)	missense	probably damaging	1.00
R1448:Atp12a	UTSW	14	56,385,839 (GRCm38)	missense	probably damaging	1.00
R1503:Atp12a	UTSW	14	56,373,424 (GRCm38)	missense	probably damaging	1.00
R1590:Atp12a	UTSW	14	56,380,055 (GRCm38)	missense	probably damaging	1.00
R1639:Atp12a	UTSW	14	56,384,068 (GRCm38)	missense	possibly damaging	0.95
R1660:Atp12a	UTSW	14	56,370,848 (GRCm38)	missense	probably benign	0.21
R1696:Atp12a	UTSW	14	56,366,088 (GRCm38)	missense	probably damaging	1.00
R1920:Atp12a	UTSW	14	56,386,851 (GRCm38)	missense	probably benign	0.19
R2022:Atp12a	UTSW	14	56,365,282 (GRCm38)	start codon destroyed	probably null
R2071:Atp12a	UTSW	14	56,366,009 (GRCm38)	missense	probably benign
R2253:Atp12a	UTSW	14	56,376,258 (GRCm38)	missense	probably benign	0.03
R2289:Atp12a	UTSW	14	56,373,262 (GRCm38)	missense	possibly damaging	0.93
R2567:Atp12a	UTSW	14	56,386,927 (GRCm38)	missense	probably damaging	1.00
R2870:Atp12a	UTSW	14	56,386,950 (GRCm38)	missense	possibly damaging	0.94
R2870:Atp12a	UTSW	14	56,386,950 (GRCm38)	missense	possibly damaging	0.94
R2872:Atp12a	UTSW	14	56,386,950 (GRCm38)	missense	possibly damaging	0.94
R2872:Atp12a	UTSW	14	56,386,950 (GRCm38)	missense	possibly damaging	0.94
R2873:Atp12a	UTSW	14	56,386,950 (GRCm38)	missense	possibly damaging	0.94
R2923:Atp12a	UTSW	14	56,374,622 (GRCm38)	missense	probably benign
R3736:Atp12a	UTSW	14	56,374,427 (GRCm38)	missense	possibly damaging	0.90
R3754:Atp12a	UTSW	14	56,372,588 (GRCm38)	missense	probably benign	0.01
R5028:Atp12a	UTSW	14	56,386,978 (GRCm38)	missense	probably damaging	0.96
R5267:Atp12a	UTSW	14	56,384,211 (GRCm38)	missense	probably damaging	1.00
R5481:Atp12a	UTSW	14	56,373,389 (GRCm38)	missense	possibly damaging	0.90
R5590:Atp12a	UTSW	14	56,373,380 (GRCm38)	missense	probably benign	0.11
R5842:Atp12a	UTSW	14	56,378,290 (GRCm38)	missense	probably damaging	0.96
R5899:Atp12a	UTSW	14	56,373,344 (GRCm38)	missense	probably benign	0.44
R5985:Atp12a	UTSW	14	56,384,341 (GRCm38)	missense	probably damaging	1.00
R6044:Atp12a	UTSW	14	56,376,155 (GRCm38)	missense	probably damaging	1.00
R6271:Atp12a	UTSW	14	56,378,422 (GRCm38)	missense	probably benign	0.00
R6454:Atp12a	UTSW	14	56,370,833 (GRCm38)	missense	probably benign	0.02
R6461:Atp12a	UTSW	14	56,373,238 (GRCm38)	missense	probably damaging	1.00
R6610:Atp12a	UTSW	14	56,374,556 (GRCm38)	missense	probably damaging	1.00
R6666:Atp12a	UTSW	14	56,373,364 (GRCm38)	missense	probably benign	0.36
R6667:Atp12a	UTSW	14	56,384,188 (GRCm38)	missense	possibly damaging	0.82
R6677:Atp12a	UTSW	14	56,380,854 (GRCm38)	missense	probably damaging	1.00
R6791:Atp12a	UTSW	14	56,386,982 (GRCm38)	critical splice donor site	probably null
R7003:Atp12a	UTSW	14	56,373,380 (GRCm38)	missense	possibly damaging	0.87
R7173:Atp12a	UTSW	14	56,384,380 (GRCm38)	missense	probably damaging	1.00
R7523:Atp12a	UTSW	14	56,365,968 (GRCm38)	missense	possibly damaging	0.85
R8063:Atp12a	UTSW	14	56,366,088 (GRCm38)	missense	probably damaging	1.00
R8376:Atp12a	UTSW	14	56,374,626 (GRCm38)	critical splice donor site	probably null
R8670:Atp12a	UTSW	14	56,380,089 (GRCm38)	missense	probably damaging	1.00
X0004:Atp12a	UTSW	14	56,378,467 (GRCm38)	missense	probably benign	0.16
Z1088:Atp12a	UTSW	14	56,386,141 (GRCm38)	missense	probably benign	0.19
Z1176:Atp12a	UTSW	14	56,372,706 (GRCm38)	missense	probably damaging	1.00
Z1177:Atp12a	UTSW	14	56,373,215 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2014-06-23