Mutagenetix > Incidental Mutation

Incidental Mutation 'R1964:Atp2c1'

217118

Institutional Source

Beutler Lab

Gene Symbol

Atp2c1

Ensembl Gene

ENSMUSG00000032570

Gene Name

ATPase, Ca++-sequestering

Synonyms

ATP2C1A, D930003G21Rik, SPCA, 1700121J11Rik, PMR1

MMRRC Submission

039977-MU

Accession Numbers

Essential gene?

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

Stock #

R1964 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105288561-105398456 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105323322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 181 (L181P)

Ref Sequence

ENSEMBL: ENSMUSP00000135802 (fasta)

Gene Model

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

AlphaFold

Q80XR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000038118
AA Change: L317P

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

SMART Domains

Protein: ENSMUSP00000039103
Gene: ENSMUSG00000032570
AA Change: L317P

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: L351P

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

SMART Domains

Protein: ENSMUSP00000082220
Gene: ENSMUSG00000032570
AA Change: L351P

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: L317P

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

SMART Domains

Protein: ENSMUSP00000108177
Gene: ENSMUSG00000032570
AA Change: L317P

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: L301P

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

SMART Domains

Protein: ENSMUSP00000129617
Gene: ENSMUSG00000032570
AA Change: L301P

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: L312P

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

SMART Domains

Protein: ENSMUSP00000134764
Gene: ENSMUSG00000032570
AA Change: L312P

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

noncoding transcript
Transcript: ENSMUST00000176960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177000

Predicted Effect

probably damaging
Transcript: ENSMUST00000177293
AA Change: L181P

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

SMART Domains

Protein: ENSMUSP00000135802
Gene: ENSMUSG00000032570
AA Change: L181P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000177074
AA Change: L317P

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

SMART Domains

Protein: ENSMUSP00000135646
Gene: ENSMUSG00000032570
AA Change: L317P

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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 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
1700010I14Rik	C	T	17: 9,211,324 (GRCm39)	H158Y	probably damaging	Het
1810009J06Rik	T	A	6: 40,945,141 (GRCm39)	C207S	probably damaging	Het
Aadac	T	A	3: 59,944,759 (GRCm39)		probably null	Het
Abca6	T	A	11: 110,075,502 (GRCm39)	I1330F	probably damaging	Het
Adar	A	T	3: 89,653,202 (GRCm39)	S263C	probably benign	Het
Adra2b	T	C	2: 127,205,734 (GRCm39)	Y84H	probably damaging	Het
Arnt2	A	T	7: 83,992,997 (GRCm39)	V181E	possibly damaging	Het
Atg7	T	C	6: 114,683,191 (GRCm39)	L418P	probably damaging	Het
Awat2	G	A	X: 99,448,165 (GRCm39)	P148S	probably damaging	Het
Birc6	A	G	17: 74,941,880 (GRCm39)	M2737V	possibly damaging	Het
Ccdc81	A	G	7: 89,535,361 (GRCm39)	C292R	probably benign	Het
Cd14	T	A	18: 36,859,392 (GRCm39)	E21V	probably damaging	Het
Cdc14b	A	C	13: 64,363,351 (GRCm39)	C303W	probably damaging	Het
Cdh23	T	C	10: 60,221,001 (GRCm39)	I1248V	probably benign	Het
Ceacam1	T	C	7: 25,174,133 (GRCm39)	D174G	probably benign	Het
Cgas	T	G	9: 78,344,737 (GRCm39)	Y228S	probably damaging	Het
Chd7	A	G	4: 8,865,978 (GRCm39)	M717V	probably damaging	Het
Cib1	T	C	7: 79,882,120 (GRCm39)	T20A	possibly damaging	Het
Clec4d	A	G	6: 123,239,319 (GRCm39)	K9R	probably benign	Het
Cntnap1	C	A	11: 101,068,850 (GRCm39)	S131*	probably null	Het
Crybg1	T	C	10: 43,834,326 (GRCm39)	K1581R	probably damaging	Het
Csf2	T	G	11: 54,139,284 (GRCm39)	T100P	probably benign	Het
Csrp2	T	A	10: 110,767,894 (GRCm39)	D26E	probably benign	Het
Cul1	T	C	6: 47,479,505 (GRCm39)	V257A	probably damaging	Het
Cul4a	G	A	8: 13,186,406 (GRCm39)	M505I	possibly damaging	Het
Cul4a	T	C	8: 13,186,854 (GRCm39)	M530T	probably benign	Het
Dcp2	T	C	18: 44,529,038 (GRCm39)	M51T	possibly damaging	Het
Ddx60	T	A	8: 62,401,903 (GRCm39)	C260S	probably benign	Het
Dennd2c	G	A	3: 103,073,807 (GRCm39)	R851H	probably damaging	Het
Dnah11	T	C	12: 118,106,027 (GRCm39)	E625G	possibly damaging	Het
Edem1	T	C	6: 108,821,908 (GRCm39)	W322R	probably benign	Het
Egflam	T	C	15: 7,276,586 (GRCm39)	T527A	probably damaging	Het
Ephb1	T	A	9: 101,848,322 (GRCm39)	M659L	possibly damaging	Het
Fbxl2	A	G	9: 113,818,237 (GRCm39)	I203T	probably benign	Het
Gabbr1	G	A	17: 37,359,351 (GRCm39)	G109R	probably damaging	Het
Gabra2	T	C	5: 71,171,793 (GRCm39)	I148V	possibly damaging	Het
Golga1	A	G	2: 38,937,099 (GRCm39)	V161A	probably benign	Het
Gps2	T	G	11: 69,807,246 (GRCm39)	S301A	probably benign	Het
H2-D1	T	C	17: 35,482,595 (GRCm39)	L105P	probably benign	Het
Igdcc4	T	C	9: 65,030,051 (GRCm39)	V367A	probably benign	Het
Igkv4-69	T	G	6: 69,260,782 (GRCm39)	Y115S	probably benign	Het
Itga5	A	G	15: 103,262,741 (GRCm39)	L309P	probably damaging	Het
Itih1	A	G	14: 30,651,580 (GRCm39)	Y871H	probably damaging	Het
Itpr2	T	A	6: 146,013,191 (GRCm39)	N2662I	probably damaging	Het
Kctd19	T	A	8: 106,115,102 (GRCm39)	E486D	probably damaging	Het
Kif5b	C	T	18: 6,209,059 (GRCm39)	R901Q	possibly damaging	Het
Kmt2a	G	A	9: 44,731,941 (GRCm39)	S2792F	probably benign	Het
Magi3	A	G	3: 103,927,718 (GRCm39)	V1023A	probably damaging	Het
Mapk9	C	A	11: 49,745,160 (GRCm39)	R25S	probably null	Het
Memo1	T	C	17: 74,552,003 (GRCm39)	T98A	possibly damaging	Het
Mill2	A	G	7: 18,590,529 (GRCm39)	K203R	probably damaging	Het
Mios	T	A	6: 8,215,798 (GRCm39)	H331Q	probably damaging	Het
Muc6	G	T	7: 141,226,329 (GRCm39)	S1566*	probably null	Het
Muc6	A	G	7: 141,226,330 (GRCm39)		probably benign	Het
Napsa	T	C	7: 44,231,109 (GRCm39)	F113L	probably benign	Het
Or5ac16	T	A	16: 59,022,271 (GRCm39)	I173F	possibly damaging	Het
Or9m1	A	G	2: 87,734,011 (GRCm39)	V3A	probably benign	Het
Oscp1	T	G	4: 125,977,415 (GRCm39)	V226G	possibly damaging	Het
Osgin2	G	T	4: 15,998,358 (GRCm39)	S421R	probably damaging	Het
Pclaf	A	G	9: 65,800,677 (GRCm39)	N50D	probably damaging	Het
Pdgfc	A	T	3: 81,082,292 (GRCm39)	I162F	probably benign	Het
Plag1	T	C	4: 3,903,956 (GRCm39)	T412A	probably benign	Het
Pogz	A	T	3: 94,785,504 (GRCm39)	T820S	probably benign	Het
Ptpn9	T	A	9: 56,967,196 (GRCm39)	V473D	probably damaging	Het
Qdpr	A	T	5: 45,596,660 (GRCm39)	M66K	possibly damaging	Het
Qrich1	A	G	9: 108,411,621 (GRCm39)	N382S	possibly damaging	Het
Rbbp8	T	C	18: 11,875,736 (GRCm39)	V883A	possibly damaging	Het
Rgl1	T	A	1: 152,424,855 (GRCm39)	I375F	probably damaging	Het
Rif1	C	T	2: 51,988,421 (GRCm39)	T720I	probably benign	Het
Rilp	A	T	11: 75,401,328 (GRCm39)	Q95L	probably benign	Het
Rnf169	T	A	7: 99,574,732 (GRCm39)	N621I	probably damaging	Het
Rps27a	T	C	11: 29,497,229 (GRCm39)	K27R	probably null	Het
Sar1a	T	C	10: 61,520,947 (GRCm39)	V54A	probably benign	Het
Sash1	T	A	10: 8,605,477 (GRCm39)	H971L	probably benign	Het
Sdk2	G	A	11: 113,671,843 (GRCm39)	Q2102*	probably null	Het
Serpina1e	T	A	12: 103,917,466 (GRCm39)	I68F	probably damaging	Het
Serpinb9e	A	C	13: 33,437,474 (GRCm39)	Q119P	probably benign	Het
Sh3tc2	A	T	18: 62,124,226 (GRCm39)	K965*	probably null	Het
Slc16a1	A	T	3: 104,556,782 (GRCm39)	S56C	probably damaging	Het
Slc26a11	T	A	11: 119,271,020 (GRCm39)	L563Q	possibly damaging	Het
Smarca2	G	T	19: 26,650,124 (GRCm39)	E24*	probably null	Het
Smgc	G	A	15: 91,744,468 (GRCm39)	G239D	probably damaging	Het
Sos2	A	T	12: 69,663,636 (GRCm39)	M616K	possibly damaging	Het
Tet1	T	A	10: 62,648,726 (GRCm39)	D1902V	possibly damaging	Het
Thap2	C	T	10: 115,220,152 (GRCm39)	C10Y	probably damaging	Het
Tln2	T	C	9: 67,249,417 (GRCm39)	D890G	probably benign	Het
Tor2a	G	A	2: 32,648,716 (GRCm39)	G62D	probably damaging	Het
Ubqln5	A	T	7: 103,778,095 (GRCm39)	V243E	possibly damaging	Het
Utrn	A	T	10: 12,560,181 (GRCm39)	D1369E	probably damaging	Het
Vcan	A	G	13: 89,840,861 (GRCm39)	V1561A	probably benign	Het
Vmn1r70	T	C	7: 10,367,737 (GRCm39)	F56S	possibly damaging	Het
Vmn2r25	A	G	6: 123,800,254 (GRCm39)	L696S	possibly damaging	Het
Washc2	A	G	6: 116,185,948 (GRCm39)	T53A	probably damaging	Het
Wnk1	T	A	6: 119,911,343 (GRCm39)	T2417S	possibly damaging	Het
Zbtb49	A	T	5: 38,361,105 (GRCm39)	C12*	probably null	Het
Zfp472	C	A	17: 33,196,848 (GRCm39)	P308T	possibly damaging	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
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
R7365:Atp2c1	UTSW	9	105,300,198 (GRCm39)	missense	probably damaging	1.00
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'- TGGGCCCCATATCACTATGATG -3'
(R):5'- GATGCTCAGTCTGCCACATC -3'

Sequencing Primer
(F):5'- TGTCAATAATGGAAAAACAGAGACAC -3'
(R):5'- GTCTGCCACATCATTTTAAATGTTGC -3'

Posted On

2014-08-01