Mutagenetix > Incidental Mutation

Incidental Mutation 'R1469:Atp2c1'

500283

Institutional Source

Beutler Lab

Gene Symbol

Atp2c1

Ensembl Gene

ENSMUSG00000032570

Gene Name

ATPase, Ca++-sequestering

Synonyms

ATP2C1A, D930003G21Rik, SPCA, 1700121J11Rik, PMR1

MMRRC Submission

039522-MU

Accession Numbers

Essential gene?

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

Stock #

R1469 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105288561-105398456 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 105312351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 353 (C353*)

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 null
Transcript: ENSMUST00000038118
AA Change: C489*

SMART Domains

Protein: ENSMUSP00000039103
Gene: ENSMUSG00000032570
AA Change: C489*

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 null
Transcript: ENSMUST00000085133
AA Change: C523*

SMART Domains

Protein: ENSMUSP00000082220
Gene: ENSMUSG00000032570
AA Change: C523*

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

noncoding transcript
Transcript: ENSMUST00000112557

Predicted Effect

probably null
Transcript: ENSMUST00000112558
AA Change: C489*

SMART Domains

Protein: ENSMUSP00000108177
Gene: ENSMUSG00000032570
AA Change: C489*

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 null
Transcript: ENSMUST00000163879
AA Change: C473*

SMART Domains

Protein: ENSMUSP00000129617
Gene: ENSMUSG00000032570
AA Change: C473*

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

noncoding transcript
Transcript: ENSMUST00000176656

Predicted Effect

probably null
Transcript: ENSMUST00000176770
AA Change: C484*

SMART Domains

Protein: ENSMUSP00000134764
Gene: ENSMUSG00000032570
AA Change: C484*

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 null
Transcript: ENSMUST00000177293
AA Change: C353*

SMART Domains

Protein: ENSMUSP00000135802
Gene: ENSMUSG00000032570
AA Change: C353*

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 null
Transcript: ENSMUST00000177074
AA Change: C489*

SMART Domains

Protein: ENSMUSP00000135646
Gene: ENSMUSG00000032570
AA Change: C489*

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

noncoding transcript
Transcript: ENSMUST00000177000

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 95.3%
10x: 69.3%
20x: 30.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,039,526 (GRCm39)	V261E	probably damaging	Het
Abca15	A	G	7: 119,981,720 (GRCm39)	E1058G	probably benign	Het
Abcb5	T	G	12: 118,831,681 (GRCm39)	I1224L	possibly damaging	Het
Actn4	A	G	7: 28,604,753 (GRCm39)	V348A	probably benign	Het
Agtr1b	A	T	3: 20,369,664 (GRCm39)	L314H	probably damaging	Het
Ankrd55	T	C	13: 112,504,460 (GRCm39)	M402T	probably benign	Het
Asap2	A	G	12: 21,263,180 (GRCm39)	Q265R	probably benign	Het
Atp2b4	G	A	1: 133,634,677 (GRCm39)	R1124C	probably damaging	Het
Atp8b5	T	A	4: 43,291,733 (GRCm39)		probably null	Het
Baz1b	T	A	5: 135,246,833 (GRCm39)	Y761N	probably damaging	Het
Bend6	A	G	1: 33,903,824 (GRCm39)	V38A	probably benign	Het
Camk1g	T	C	1: 193,044,399 (GRCm39)	E5G	possibly damaging	Het
Ccdc14	T	A	16: 34,527,152 (GRCm39)	H352Q	probably damaging	Het
Cdh2	A	G	18: 16,757,324 (GRCm39)	V641A	possibly damaging	Het
Celsr2	C	A	3: 108,321,424 (GRCm39)	D463Y	probably damaging	Het
Cfap43	A	G	19: 47,885,314 (GRCm39)	Y434H	probably damaging	Het
Cnih2	T	C	19: 5,143,730 (GRCm39)	Y142C	probably damaging	Het
Coa5	T	A	1: 37,459,681 (GRCm39)	R71*	probably null	Het
Csmd3	A	T	15: 47,532,598 (GRCm39)	Y2532*	probably null	Het
Cytl1	A	T	5: 37,892,991 (GRCm39)	M34L	probably benign	Het
Dctn1	T	A	6: 83,169,871 (GRCm39)	I590N	probably damaging	Het
Dhx57	T	C	17: 80,561,847 (GRCm39)	H889R	probably damaging	Het
Dock10	A	G	1: 80,490,275 (GRCm39)	I1948T	probably benign	Het
Dock3	A	T	9: 106,832,908 (GRCm39)	N1034K	probably benign	Het
Dzip1l	G	A	9: 99,541,829 (GRCm39)		probably null	Het
Eif4g1	T	A	16: 20,498,758 (GRCm39)	V439E	possibly damaging	Het
Eml5	T	C	12: 98,825,082 (GRCm39)	I712V	probably benign	Het
Entrep1	G	A	19: 23,950,970 (GRCm39)	T537I	probably benign	Het
Epha3	C	T	16: 63,473,857 (GRCm39)	G300D	probably damaging	Het
Erbb4	A	C	1: 68,599,841 (GRCm39)	S79A	probably damaging	Het
Gclc	T	C	9: 77,688,419 (GRCm39)	V205A	probably benign	Het
Gdpd4	A	G	7: 97,623,673 (GRCm39)		probably null	Het
Gm11564	C	T	11: 99,706,058 (GRCm39)	C124Y	unknown	Het
Gm16494	T	C	17: 47,327,770 (GRCm39)	E38G	probably damaging	Het
Gtf2h1	T	C	7: 46,454,549 (GRCm39)		probably null	Het
Gtsf2	G	T	15: 103,349,644 (GRCm39)	R68S	probably benign	Het
Heatr5b	T	C	17: 79,115,813 (GRCm39)	Q881R	probably damaging	Het
Hmox1	C	A	8: 75,825,463 (GRCm39)	L236I	probably benign	Het
Ighv8-12	T	C	12: 115,611,963 (GRCm39)	I7V	probably benign	Het
Izumo1	T	C	7: 45,272,437 (GRCm39)	S73P	probably damaging	Het
Kifbp	A	T	10: 62,395,229 (GRCm39)	F471Y	probably damaging	Het
Knl1	A	G	2: 118,901,827 (GRCm39)	N1176S	possibly damaging	Het
Mecom	A	T	3: 30,034,197 (GRCm39)	L493Q	probably damaging	Het
Mprip	T	C	11: 59,650,016 (GRCm39)	V1240A	probably damaging	Het
Mrpl3	T	C	9: 104,954,201 (GRCm39)	S302P	probably damaging	Het
Mycbp2	T	C	14: 103,425,956 (GRCm39)	T2390A	probably damaging	Het
Myo1c	T	C	11: 75,560,787 (GRCm39)	S766P	probably damaging	Het
Myo9b	A	G	8: 71,743,680 (GRCm39)	Q247R	probably damaging	Het
Nav3	G	A	10: 109,596,369 (GRCm39)	T1423I	probably damaging	Het
Nefh	A	T	11: 4,890,066 (GRCm39)	I851N	probably benign	Het
Nup98	T	C	7: 101,788,008 (GRCm39)	T1004A	probably benign	Het
Or1e17	T	C	11: 73,831,383 (GRCm39)	F104L	probably benign	Het
Or1e22	G	A	11: 73,377,149 (GRCm39)	S167L	possibly damaging	Het
Or5k8	G	A	16: 58,644,973 (GRCm39)	T33I	probably benign	Het
Or5p76	T	C	7: 108,122,411 (GRCm39)	T249A	probably benign	Het
Osgin1	G	T	8: 120,172,124 (GRCm39)	R306L	possibly damaging	Het
Otof	A	G	5: 30,537,571 (GRCm39)	L1246P	probably benign	Het
Pde8a	T	A	7: 80,952,019 (GRCm39)	N273K	probably damaging	Het
Phf14	T	A	6: 11,933,726 (GRCm39)	M196K	possibly damaging	Het
Pkd1l3	T	C	8: 110,373,585 (GRCm39)	S1374P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,400,282 (GRCm39)	V2142A	probably benign	Het
Plb1	A	G	5: 32,512,170 (GRCm39)	E1318G	possibly damaging	Het
Plekhh2	A	G	17: 84,883,199 (GRCm39)	I756V	probably benign	Het
Primpol	A	G	8: 47,046,672 (GRCm39)	V208A	probably benign	Het
Ptch2	C	A	4: 116,965,662 (GRCm39)	A389E	probably benign	Het
Pzp	A	G	6: 128,489,319 (GRCm39)	Y431H	probably benign	Het
Rnf43	G	A	11: 87,622,233 (GRCm39)	G445R	probably damaging	Het
Scn5a	A	T	9: 119,362,727 (GRCm39)		probably null	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Shisa9	T	A	16: 11,802,935 (GRCm39)	M164K	probably damaging	Het
Skint1	A	G	4: 111,882,708 (GRCm39)	I251V	probably benign	Het
Slc16a14	C	T	1: 84,907,182 (GRCm39)	D31N	probably damaging	Het
Slc22a13	T	C	9: 119,022,361 (GRCm39)	S548G	possibly damaging	Het
Slc4a9	T	C	18: 36,664,154 (GRCm39)	F316L	probably benign	Het
Smchd1	C	T	17: 71,656,725 (GRCm39)	R1914H	probably damaging	Het
Snx16	C	T	3: 10,499,431 (GRCm39)	D200N	probably damaging	Het
Spock3	A	G	8: 63,404,934 (GRCm39)	D34G	probably damaging	Het
Sspo	T	C	6: 48,467,916 (GRCm39)	C4154R	probably damaging	Het
Sytl3	C	T	17: 6,954,723 (GRCm39)	A131V	probably benign	Het
Tacc1	T	A	8: 25,672,271 (GRCm39)	D319V	probably benign	Het
Tead1	A	T	7: 112,475,391 (GRCm39)	K234I	probably damaging	Het
Tgfbrap1	C	T	1: 43,114,618 (GRCm39)	V161I	probably benign	Het
Tnfaip3	A	G	10: 18,884,017 (GRCm39)	V121A	probably damaging	Het
Tnnt2	A	G	1: 135,779,793 (GRCm39)	T297A	possibly damaging	Het
Trappc11	G	A	8: 47,957,000 (GRCm39)	L809F	probably damaging	Het
Ttn	T	C	2: 76,601,869 (GRCm39)	I18598V	probably benign	Het
Ugt1a10	G	A	1: 88,143,976 (GRCm39)	A199T	probably damaging	Het
Unc5a	A	G	13: 55,144,232 (GRCm39)	N186D	probably damaging	Het
Uqcrfs1	C	A	13: 30,724,784 (GRCm39)	G252V	probably damaging	Het
Vmn2r115	T	C	17: 23,564,992 (GRCm39)	I293T	probably damaging	Het
Vmn2r9	T	C	5: 108,991,694 (GRCm39)	T556A	probably benign	Het
Ythdc2	T	A	18: 44,997,529 (GRCm39)	Y1029N	probably benign	Het
Zfp451	T	A	1: 33,808,894 (GRCm39)	K989M	possibly damaging	Het
Zfpm1	C	T	8: 123,062,585 (GRCm39)	T548M	probably 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
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
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'- GGACACTTCACAAGTGACGTAGGG -3'
(R):5'- CCTGCTGCCTGTTGAAGAAGAACC -3'

Sequencing Primer
(F):5'- TTCACAAGTGACGTAGGGATTCAG -3'
(R):5'- TGTGCCACTCAAAGCATTGG -3'

Posted On

2017-12-01