Mutagenetix > Incidental Mutation

Incidental Mutation 'R7365:Atp2c1'

571726

Institutional Source

Beutler Lab

Gene Symbol

Atp2c1

Ensembl Gene

ENSMUSG00000032570

Gene Name

ATPase, Ca++-sequestering

Synonyms

ATP2C1A, D930003G21Rik, SPCA, 1700121J11Rik, PMR1

MMRRC Submission

045449-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.403) question?

Stock #

R7365 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105288561-105398456 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105300198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 700 (D700E)

Ref Sequence

ENSEMBL: ENSMUSP00000082220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038118] [ENSMUST00000085133] [ENSMUST00000112558] [ENSMUST00000163879] [ENSMUST00000176770] [ENSMUST00000177074] [ENSMUST00000177293]

AlphaFold

Q80XR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000038118
AA Change: D666E

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

SMART Domains

Protein: ENSMUSP00000039103
Gene: ENSMUSG00000032570
AA Change: D666E

Domain	Start	End	E-Value	Type
Cation_ATPase_N	25	99	1.85e-14	SMART
Pfam:E1-E2_ATPase	105	339	2.3e-75	PFAM
Pfam:Hydrolase	343	655	2.9e-31	PFAM
Pfam:HAD	346	652	7.7e-15	PFAM
Pfam:Hydrolase_like2	408	492	9.5e-20	PFAM
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cation_ATPase_C	725	897	4e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000085133
AA Change: D700E

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

SMART Domains

Protein: ENSMUSP00000082220
Gene: ENSMUSG00000032570
AA Change: D700E

Domain	Start	End	E-Value	Type
Cation_ATPase_N	59	133	1.85e-14	SMART
Pfam:E1-E2_ATPase	138	372	3.4e-62	PFAM
Pfam:Hydrolase	377	689	2.6e-23	PFAM
Pfam:HAD	380	686	7.8e-14	PFAM
Pfam:Cation_ATPase	442	526	3.2e-19	PFAM
low complexity region	740	755	N/A	INTRINSIC
Pfam:Cation_ATPase_C	759	931	3.8e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112558
AA Change: D666E

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

SMART Domains

Protein: ENSMUSP00000108177
Gene: ENSMUSG00000032570
AA Change: D666E

Domain	Start	End	E-Value	Type
Cation_ATPase_N	25	99	1.85e-14	SMART
Pfam:E1-E2_ATPase	105	339	2.3e-75	PFAM
Pfam:Hydrolase	343	655	2.9e-31	PFAM
Pfam:HAD	346	652	7.7e-15	PFAM
Pfam:Hydrolase_like2	408	492	9.5e-20	PFAM
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cation_ATPase_C	725	897	4e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163879
AA Change: D650E

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

SMART Domains

Protein: ENSMUSP00000129617
Gene: ENSMUSG00000032570
AA Change: D650E

Domain	Start	End	E-Value	Type
Cation_ATPase_N	9	83	1.85e-14	SMART
Pfam:E1-E2_ATPase	89	323	5.2e-76	PFAM
Pfam:Hydrolase	327	639	5.6e-32	PFAM
Pfam:HAD	330	636	1.4e-15	PFAM
Pfam:Hydrolase_like2	392	476	3.2e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000176770
AA Change: D661E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134764
Gene: ENSMUSG00000032570
AA Change: D661E

Domain	Start	End	E-Value	Type
Pfam:E1-E2_ATPase	100	334	8.9e-76	PFAM
Pfam:Hydrolase	338	650	1.1e-31	PFAM
Pfam:HAD	341	647	2.7e-15	PFAM
Pfam:Hydrolase_like2	403	487	4.8e-20	PFAM
low complexity region	701	716	N/A	INTRINSIC
Pfam:Cation_ATPase_C	720	892	1.6e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177074
AA Change: D666E

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

SMART Domains

Protein: ENSMUSP00000135646
Gene: ENSMUSG00000032570
AA Change: D666E

Domain	Start	End	E-Value	Type
Cation_ATPase_N	25	99	1.85e-14	SMART
Pfam:E1-E2_ATPase	105	339	8.2e-76	PFAM
Pfam:Hydrolase	343	655	1e-31	PFAM
Pfam:HAD	346	652	2.5e-15	PFAM
Pfam:Hydrolase_like2	408	492	4.5e-20	PFAM
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cation_ATPase_C	725	886	7e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177293
AA Change: D530E

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

SMART Domains

Protein: ENSMUSP00000135802
Gene: ENSMUSG00000032570
AA Change: D530E

Domain	Start	End	E-Value	Type
Pfam:E1-E2_ATPase	1	203	6.7e-64	PFAM
Pfam:Hydrolase	207	519	7.4e-32	PFAM
Pfam:HAD	210	516	1.9e-15	PFAM
Pfam:Hydrolase_like2	272	356	3.8e-20	PFAM
transmembrane domain	564	586	N/A	INTRINSIC
Pfam:Cation_ATPase_C	589	761	1.2e-47	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (96/96)

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 magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele show embryonic growth retardation, failure of rostral neural tube closure, Golgi and endoplasmic reticulum stress, increased apoptosis, accumulation of intracellular lipid droplets and midgestational lethality. Agedheterozygotes develop squamous cell tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,198 (GRCm39)	S155G	probably benign	Het
Abcc4	T	C	14: 118,865,066 (GRCm39)	N320S	probably damaging	Het
Akr1c19	G	A	13: 4,287,069 (GRCm39)	R96H	probably benign	Het
Ankrd17	T	C	5: 90,439,010 (GRCm39)	D451G	possibly damaging	Het
Ano8	T	A	8: 71,937,754 (GRCm39)	D36V	probably damaging	Het
Aqp3	A	G	4: 41,098,003 (GRCm39)	V36A	probably benign	Het
Atf7ip	A	G	6: 136,537,708 (GRCm39)	T314A	probably benign	Het
Axin2	G	A	11: 108,830,202 (GRCm39)	V341M	possibly damaging	Het
Bin3	A	G	14: 70,371,976 (GRCm39)	Q139R	probably damaging	Het
Brca2	A	G	5: 150,455,802 (GRCm39)	D181G	probably damaging	Het
Capn3	A	G	2: 120,325,295 (GRCm39)	E466G	probably damaging	Het
Ccdc14	T	A	16: 34,543,989 (GRCm39)	Y830*	probably null	Het
Cdk12	T	C	11: 98,111,910 (GRCm39)	F723L	unknown	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cip2a	T	A	16: 48,822,016 (GRCm39)	S215T	probably benign	Het
Clca3a2	T	A	3: 144,804,545 (GRCm39)	I61F	probably damaging	Het
Clca4b	T	C	3: 144,628,529 (GRCm39)	T393A	not run	Het
Cldn5	G	A	16: 18,595,845 (GRCm39)	A34T	probably damaging	Het
Cobll1	A	T	2: 64,928,717 (GRCm39)	S870T	probably damaging	Het
Col12a1	T	C	9: 79,613,642 (GRCm39)	K68E	probably damaging	Het
Crnn	A	T	3: 93,055,841 (GRCm39)	Q209L	probably damaging	Het
Cwf19l1	A	T	19: 44,120,579 (GRCm39)	F45I	probably damaging	Het
Cyfip2	T	A	11: 46,098,267 (GRCm39)	K1052*	probably null	Het
D930020B18Rik	G	A	10: 121,503,716 (GRCm39)		probably null	Het
Dcc	G	A	18: 71,959,194 (GRCm39)	P193S	probably damaging	Het
Dda1	T	A	8: 71,927,137 (GRCm39)	C48S	probably benign	Het
Disc1	A	G	8: 125,881,780 (GRCm39)	R572G	probably damaging	Het
Dnah7a	A	T	1: 53,536,297 (GRCm39)	M2582K	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dynlrb2	T	C	8: 117,241,696 (GRCm39)	V80A	probably benign	Het
Eif3a	A	T	19: 60,755,082 (GRCm39)	D1033E	unknown	Het
Enam	C	A	5: 88,649,347 (GRCm39)	H285Q	possibly damaging	Het
Ep400	T	C	5: 110,867,480 (GRCm39)	D980G	unknown	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Erc2	A	C	14: 27,762,346 (GRCm39)	D703A	probably damaging	Het
Ezh2	G	T	6: 47,510,692 (GRCm39)	S639*	probably null	Het
Fbn1	G	A	2: 125,193,969 (GRCm39)	H1333Y	probably damaging	Het
Flad1	A	G	3: 89,315,972 (GRCm39)	S197P	possibly damaging	Het
Foxl3	A	G	5: 138,806,736 (GRCm39)	H82R	probably damaging	Het
Gfm2	G	T	13: 97,279,529 (GRCm39)	C26F	probably benign	Het
Golga2	C	T	2: 32,193,013 (GRCm39)	Q444*	probably null	Het
Gp5	A	T	16: 30,127,426 (GRCm39)	V416D	probably damaging	Het
Gpat2	A	G	2: 127,268,901 (GRCm39)		probably null	Het
Gpr137c	A	G	14: 45,516,471 (GRCm39)	D353G	probably damaging	Het
Hoxa13	A	C	6: 52,236,862 (GRCm39)	W133G	probably damaging	Het
Hydin	A	T	8: 111,284,294 (GRCm39)	I3189F	probably damaging	Het
Hydin	A	T	8: 111,327,905 (GRCm39)	K4804M	probably damaging	Het
Ice2	T	C	9: 69,307,794 (GRCm39)	F26S	probably damaging	Het
Ints11	T	C	4: 155,956,687 (GRCm39)		probably null	Het
Ipo5	A	G	14: 121,157,497 (GRCm39)	I112V	probably benign	Het
Itgax	T	A	7: 127,734,481 (GRCm39)	S346R	probably damaging	Het
Kcnj13	T	A	1: 87,316,739 (GRCm39)	M125L	probably damaging	Het
Lmbrd1	T	A	1: 24,783,948 (GRCm39)	V359E	possibly damaging	Het
Lrrc7	T	G	3: 157,903,798 (GRCm39)	K287N	probably damaging	Het
Mau2	C	T	8: 70,481,884 (GRCm39)	A191T	possibly damaging	Het
Mkx	C	A	18: 7,000,747 (GRCm39)	R65L	possibly damaging	Het
Mroh4	T	A	15: 74,482,220 (GRCm39)	K746*	probably null	Het
Myh4	A	G	11: 67,133,674 (GRCm39)	T238A	probably damaging	Het
Nlrp9c	T	A	7: 26,070,822 (GRCm39)	N920Y	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Ntn4	T	C	10: 93,480,666 (GRCm39)	L130P	probably damaging	Het
Or2ag13	A	G	7: 106,313,171 (GRCm39)	V239A	probably benign	Het
Or4a68	A	G	2: 89,270,542 (GRCm39)	V27A	probably benign	Het
Or4f59	A	T	2: 111,873,359 (GRCm39)	V6E	possibly damaging	Het
Or56a42-ps1	T	A	7: 104,777,552 (GRCm39)	I21F	probably benign	Het
Or8d23	A	T	9: 38,842,072 (GRCm39)	I202F	probably damaging	Het
Otog	T	C	7: 45,947,732 (GRCm39)	L110P	probably damaging	Het
Platr25	G	A	13: 62,848,719 (GRCm39)	H48Y	probably benign	Het
Plcxd2	T	C	16: 45,800,789 (GRCm39)	E145G	probably damaging	Het
Pltp	A	T	2: 164,696,242 (GRCm39)	N143K	probably damaging	Het
Pnpt1	T	C	11: 29,111,334 (GRCm39)	Y735H	probably damaging	Het
Prom1	A	G	5: 44,178,173 (GRCm39)	Y520H	probably damaging	Het
Rag2	A	G	2: 101,461,118 (GRCm39)	Y476C	probably damaging	Het
Rdh16f2	A	G	10: 127,712,893 (GRCm39)	Y297C	probably damaging	Het
Ryr1	T	C	7: 28,785,180 (GRCm39)	E1844G	probably benign	Het
Ryr2	A	G	13: 11,655,161 (GRCm39)	C3679R	probably damaging	Het
Sirt1	A	G	10: 63,157,782 (GRCm39)	I544T	probably benign	Het
Slc26a10	A	T	10: 127,012,716 (GRCm39)	I382N	possibly damaging	Het
Sox2	C	A	3: 34,705,121 (GRCm39)	P186Q	possibly damaging	Het
Spata31e5	A	T	1: 28,819,233 (GRCm39)	M16K	probably benign	Het
Tnpo3	A	G	6: 29,556,995 (GRCm39)	L752P	probably damaging	Het
Top2b	T	A	14: 16,416,649 (GRCm38)	N1136K	probably benign	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Ttf2	C	A	3: 100,870,618 (GRCm39)	D152Y	possibly damaging	Het
Txndc15	T	C	13: 55,862,601 (GRCm39)	L4P	unknown	Het
Unc5a	T	C	13: 55,144,386 (GRCm39)	V237A	possibly damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vav3	C	A	3: 109,535,415 (GRCm39)	P616T	possibly damaging	Het
Vmn2r15	T	A	5: 109,441,105 (GRCm39)	D251V	probably benign	Het
Vmn2r15	A	G	5: 109,445,388 (GRCm39)	L12S	probably benign	Het
Wfs1	A	C	5: 37,125,076 (GRCm39)	I605S	probably benign	Het
Wif1	G	A	10: 120,919,814 (GRCm39)	R187Q	possibly damaging	Het
Yipf1	A	G	4: 107,207,738 (GRCm39)		probably null	Het
Zdhhc20	G	T	14: 58,111,377 (GRCm39)	F74L	possibly damaging	Het
Zfp507	T	C	7: 35,475,843 (GRCm39)	T303A	unknown	Het
Zfp763	A	T	17: 33,252,352 (GRCm39)		probably benign	Het

Other mutations in Atp2c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Atp2c1	APN	9	105,295,778 (GRCm39)	missense	probably damaging	1.00
IGL01682:Atp2c1	APN	9	105,330,041 (GRCm39)	missense	probably damaging	1.00
IGL01874:Atp2c1	APN	9	105,326,024 (GRCm39)	missense	probably damaging	1.00
IGL02299:Atp2c1	APN	9	105,338,286 (GRCm39)	unclassified	probably benign
IGL03186:Atp2c1	APN	9	105,290,329 (GRCm39)	missense	probably benign	0.10
IGL03212:Atp2c1	APN	9	105,322,466 (GRCm39)	missense	probably damaging	1.00
BB002:Atp2c1	UTSW	9	105,319,969 (GRCm39)	missense	possibly damaging	0.92
BB012:Atp2c1	UTSW	9	105,319,969 (GRCm39)	missense	possibly damaging	0.92
IGL02799:Atp2c1	UTSW	9	105,290,242 (GRCm39)	unclassified	probably benign
IGL03047:Atp2c1	UTSW	9	105,398,206 (GRCm39)	intron	probably benign
R0885:Atp2c1	UTSW	9	105,298,772 (GRCm39)	critical splice donor site	probably null
R1072:Atp2c1	UTSW	9	105,336,943 (GRCm39)	missense	possibly damaging	0.92
R1469:Atp2c1	UTSW	9	105,312,351 (GRCm39)	nonsense	probably null
R1469:Atp2c1	UTSW	9	105,312,351 (GRCm39)	nonsense	probably null
R1611:Atp2c1	UTSW	9	105,320,051 (GRCm39)	missense	probably damaging	0.98
R1638:Atp2c1	UTSW	9	105,309,897 (GRCm39)	missense	probably damaging	0.96
R1667:Atp2c1	UTSW	9	105,309,996 (GRCm39)	missense	probably null	0.94
R1722:Atp2c1	UTSW	9	105,316,599 (GRCm39)	missense	probably benign	0.01
R1734:Atp2c1	UTSW	9	105,291,854 (GRCm39)	missense	probably damaging	1.00
R1782:Atp2c1	UTSW	9	105,308,786 (GRCm39)	missense	probably damaging	0.99
R1964:Atp2c1	UTSW	9	105,323,322 (GRCm39)	missense	probably damaging	1.00
R2008:Atp2c1	UTSW	9	105,309,925 (GRCm39)	missense	probably benign	0.00
R2093:Atp2c1	UTSW	9	105,295,320 (GRCm39)	nonsense	probably null
R3720:Atp2c1	UTSW	9	105,300,175 (GRCm39)	missense	probably damaging	1.00
R4118:Atp2c1	UTSW	9	105,343,858 (GRCm39)	missense	probably damaging	1.00
R4273:Atp2c1	UTSW	9	105,312,339 (GRCm39)	missense	probably benign	0.10
R4763:Atp2c1	UTSW	9	105,295,766 (GRCm39)	missense	probably damaging	1.00
R4962:Atp2c1	UTSW	9	105,320,149 (GRCm39)	missense	probably benign	0.03
R5121:Atp2c1	UTSW	9	105,326,024 (GRCm39)	missense	probably damaging	1.00
R5458:Atp2c1	UTSW	9	105,291,924 (GRCm39)	nonsense	probably null
R5551:Atp2c1	UTSW	9	105,336,936 (GRCm39)	missense	probably damaging	1.00
R6198:Atp2c1	UTSW	9	105,398,271 (GRCm39)	missense	probably benign	0.00
R6414:Atp2c1	UTSW	9	105,343,855 (GRCm39)	missense	probably damaging	1.00
R6432:Atp2c1	UTSW	9	105,322,512 (GRCm39)	missense	probably damaging	1.00
R6675:Atp2c1	UTSW	9	105,330,732 (GRCm39)	critical splice donor site	probably null
R6719:Atp2c1	UTSW	9	105,301,377 (GRCm39)	missense	probably damaging	1.00
R6777:Atp2c1	UTSW	9	105,295,799 (GRCm39)	missense	possibly damaging	0.64
R6847:Atp2c1	UTSW	9	105,295,778 (GRCm39)	missense	probably damaging	1.00
R6870:Atp2c1	UTSW	9	105,347,261 (GRCm39)	missense	probably benign	0.13
R7097:Atp2c1	UTSW	9	105,341,850 (GRCm39)	missense	probably damaging	1.00
R7120:Atp2c1	UTSW	9	105,297,385 (GRCm39)	nonsense	probably null
R7216:Atp2c1	UTSW	9	105,344,930 (GRCm39)	missense	probably benign	0.00
R7284:Atp2c1	UTSW	9	105,398,008 (GRCm39)	splice site	probably null
R7448:Atp2c1	UTSW	9	105,329,982 (GRCm39)	missense	probably damaging	0.98
R7818:Atp2c1	UTSW	9	105,291,956 (GRCm39)	missense	probably benign	0.06
R7921:Atp2c1	UTSW	9	105,291,886 (GRCm39)	missense	probably damaging	1.00
R7925:Atp2c1	UTSW	9	105,319,969 (GRCm39)	missense	possibly damaging	0.92
R8088:Atp2c1	UTSW	9	105,329,768 (GRCm39)	splice site	probably null
R8257:Atp2c1	UTSW	9	105,308,756 (GRCm39)	missense	probably benign	0.40
R8260:Atp2c1	UTSW	9	105,295,778 (GRCm39)	missense	probably damaging	1.00
R8265:Atp2c1	UTSW	9	105,347,315 (GRCm39)	missense	probably benign	0.01
R8307:Atp2c1	UTSW	9	105,320,030 (GRCm39)	missense	probably benign
R9052:Atp2c1	UTSW	9	105,330,032 (GRCm39)	missense	probably damaging	0.99
R9066:Atp2c1	UTSW	9	105,330,845 (GRCm39)	missense	probably damaging	1.00
R9177:Atp2c1	UTSW	9	105,336,858 (GRCm39)	critical splice donor site	probably null
R9257:Atp2c1	UTSW	9	105,291,851 (GRCm39)	nonsense	probably null
R9566:Atp2c1	UTSW	9	105,343,828 (GRCm39)	missense	probably damaging	0.97
R9779:Atp2c1	UTSW	9	105,291,919 (GRCm39)	missense	probably damaging	0.98
X0053:Atp2c1	UTSW	9	105,295,883 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCGCCATCATTTTATGCCTAG -3'
(R):5'- AAGACTTTCATGTATTCAGGCTGAC -3'

Sequencing Primer
(F):5'- ATGTGACAACTGGCTGGC -3'
(R):5'- TGTGAAAGATGGTTGATAATACCTG -3'

Posted On

2019-09-13