Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01624:Atp2c2'

92644

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp2c2

Ensembl Gene

ENSMUSG00000034112

Gene Name

ATPase, Ca++ transporting, type 2C, member 2

Synonyms

1810010G06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01624

Quality Score

Status

Chromosome

Chromosomal Location

120426748-120484456 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120484189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 933 (R933S)

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049156] [ENSMUST00000095171]

AlphaFold

A7L9Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000049156

SMART Domains

Protein: ENSMUSP00000044430
Gene: ENSMUSG00000034105

Domain	Start	End	E-Value	Type
TLDc	241	410	4.36e-69	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095171
AA Change: R933S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: R933S

Domain	Start	End	E-Value	Type
Cation_ATPase_N	54	128	1.27e-12	SMART
Pfam:E1-E2_ATPase	133	366	1.7e-62	PFAM
Pfam:Hydrolase	371	684	5.3e-18	PFAM
Pfam:HAD	374	681	7.4e-11	PFAM
Pfam:Cation_ATPase	437	521	1.1e-17	PFAM
Pfam:Cation_ATPase_C	754	927	1.1e-47	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,341,205 (GRCm39)	T18I	probably damaging	Het
Acod1	A	G	14: 103,292,669 (GRCm39)	T398A	probably benign	Het
Adgrl2	A	G	3: 148,542,163 (GRCm39)	V853A	probably damaging	Het
Ankhd1	T	C	18: 36,791,066 (GRCm39)	S2488P	probably damaging	Het
Ankrd28	T	C	14: 31,432,814 (GRCm39)	I578V	probably benign	Het
Cyp26a1	A	T	19: 37,686,781 (GRCm39)	I78F	possibly damaging	Het
Gck	A	G	11: 5,853,106 (GRCm39)	V338A	possibly damaging	Het
Ints6	A	T	14: 62,934,320 (GRCm39)	M729K	probably benign	Het
Kank2	C	A	9: 21,691,676 (GRCm39)	G500W	probably damaging	Het
Kansl1	G	A	11: 104,315,378 (GRCm39)	T220I	probably benign	Het
Lgi4	T	C	7: 30,767,113 (GRCm39)	L380P	probably damaging	Het
Lhx9	G	T	1: 138,760,521 (GRCm39)	Y276*	probably null	Het
Lipm	T	A	19: 34,098,545 (GRCm39)	Y340N	probably damaging	Het
Mlxip	A	G	5: 123,533,392 (GRCm39)	T134A	probably benign	Het
Nwd2	A	T	5: 63,964,153 (GRCm39)	I1246F	probably damaging	Het
Or14j3	A	T	17: 37,900,816 (GRCm39)	W143R	probably benign	Het
Or6c69c	T	A	10: 129,910,519 (GRCm39)	L80H	probably damaging	Het
Or8h9	A	G	2: 86,789,574 (GRCm39)	V76A	probably benign	Het
Rbm44	T	A	1: 91,084,380 (GRCm39)	N601K	probably damaging	Het
Rgs4	T	A	1: 169,572,047 (GRCm39)	Y84F	probably benign	Het
Scn7a	T	C	2: 66,582,269 (GRCm39)	T131A	probably benign	Het
Slc34a1	A	G	13: 23,998,969 (GRCm39)	I121V	probably benign	Het
Slitrk5	T	A	14: 111,918,526 (GRCm39)	Y717N	probably damaging	Het
Sox6	A	G	7: 115,076,203 (GRCm39)	S770P	probably damaging	Het
Spata31	T	C	13: 65,069,399 (GRCm39)	W516R	probably damaging	Het
Sugt1	A	G	14: 79,834,230 (GRCm39)	N77S	probably benign	Het
Sumf1	C	T	6: 108,130,162 (GRCm39)	D186N	probably damaging	Het
Syde2	T	C	3: 145,712,790 (GRCm39)	L709S	probably damaging	Het
Tcp1	T	A	17: 13,138,812 (GRCm39)	I163K	probably benign	Het
Upf2	A	T	2: 6,038,990 (GRCm39)	E287D	probably benign	Het
Usp17lb	A	G	7: 104,491,720 (GRCm39)		probably benign	Het
Vmn2r10	G	A	5: 109,154,112 (GRCm39)	S64F	possibly damaging	Het

Other mutations in Atp2c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Atp2c2	APN	8	120,472,329 (GRCm39)	missense	probably benign
IGL02133:Atp2c2	APN	8	120,481,074 (GRCm39)	missense	probably benign	0.00
IGL02221:Atp2c2	APN	8	120,471,073 (GRCm39)	missense	probably damaging	1.00
IGL02606:Atp2c2	APN	8	120,457,013 (GRCm39)	missense	probably benign
IGL02657:Atp2c2	APN	8	120,479,771 (GRCm39)	missense	probably damaging	1.00
IGL02839:Atp2c2	APN	8	120,475,859 (GRCm39)	missense	possibly damaging	0.85
IGL03122:Atp2c2	APN	8	120,469,414 (GRCm39)	missense	possibly damaging	0.77
R0031:Atp2c2	UTSW	8	120,475,801 (GRCm39)	missense	probably benign	0.15
R0372:Atp2c2	UTSW	8	120,484,180 (GRCm39)	missense	probably benign
R0502:Atp2c2	UTSW	8	120,461,316 (GRCm39)	missense	probably null	0.99
R0503:Atp2c2	UTSW	8	120,461,316 (GRCm39)	missense	probably null	0.99
R0584:Atp2c2	UTSW	8	120,465,157 (GRCm39)	missense	probably benign	0.01
R1225:Atp2c2	UTSW	8	120,461,984 (GRCm39)	missense	probably damaging	1.00
R1580:Atp2c2	UTSW	8	120,479,726 (GRCm39)	missense	probably benign	0.00
R1620:Atp2c2	UTSW	8	120,475,865 (GRCm39)	missense	probably benign
R1638:Atp2c2	UTSW	8	120,482,742 (GRCm39)	missense	possibly damaging	0.82
R1745:Atp2c2	UTSW	8	120,451,833 (GRCm39)	missense	probably benign	0.02
R1746:Atp2c2	UTSW	8	120,461,182 (GRCm39)	unclassified	probably benign
R1907:Atp2c2	UTSW	8	120,476,615 (GRCm39)	splice site	probably benign
R2104:Atp2c2	UTSW	8	120,476,584 (GRCm39)	missense	probably benign
R2151:Atp2c2	UTSW	8	120,482,841 (GRCm39)	missense	probably benign
R2152:Atp2c2	UTSW	8	120,482,841 (GRCm39)	missense	probably benign
R2154:Atp2c2	UTSW	8	120,482,841 (GRCm39)	missense	probably benign
R2207:Atp2c2	UTSW	8	120,475,048 (GRCm39)	missense	probably damaging	1.00
R3874:Atp2c2	UTSW	8	120,462,035 (GRCm39)	missense	possibly damaging	0.74
R3912:Atp2c2	UTSW	8	120,448,015 (GRCm39)	missense	probably damaging	1.00
R4093:Atp2c2	UTSW	8	120,476,610 (GRCm39)	critical splice donor site	probably null
R4782:Atp2c2	UTSW	8	120,475,891 (GRCm39)	missense	probably damaging	0.97
R4801:Atp2c2	UTSW	8	120,474,426 (GRCm39)	missense	probably damaging	1.00
R4973:Atp2c2	UTSW	8	120,481,002 (GRCm39)	missense	probably benign	0.00
R5485:Atp2c2	UTSW	8	120,479,801 (GRCm39)	critical splice donor site	probably null
R5978:Atp2c2	UTSW	8	120,476,614 (GRCm39)	splice site	probably null
R6377:Atp2c2	UTSW	8	120,453,093 (GRCm39)	missense	probably benign	0.10
R6613:Atp2c2	UTSW	8	120,482,760 (GRCm39)	missense	probably damaging	0.99
R6765:Atp2c2	UTSW	8	120,479,756 (GRCm39)	missense	probably damaging	1.00
R6836:Atp2c2	UTSW	8	120,461,154 (GRCm39)	missense	probably damaging	1.00
R6963:Atp2c2	UTSW	8	120,457,006 (GRCm39)	nonsense	probably null
R7220:Atp2c2	UTSW	8	120,472,300 (GRCm39)	missense	probably benign	0.00
R7238:Atp2c2	UTSW	8	120,469,160 (GRCm39)	missense	possibly damaging	0.73
R7373:Atp2c2	UTSW	8	120,456,991 (GRCm39)	missense	probably benign	0.02
R7438:Atp2c2	UTSW	8	120,474,936 (GRCm39)	missense	probably damaging	1.00
R7573:Atp2c2	UTSW	8	120,478,008 (GRCm39)	missense	probably damaging	1.00
R7677:Atp2c2	UTSW	8	120,474,915 (GRCm39)	missense	probably benign	0.00
R7737:Atp2c2	UTSW	8	120,469,134 (GRCm39)	missense	probably damaging	1.00
R7912:Atp2c2	UTSW	8	120,456,917 (GRCm39)	missense	possibly damaging	0.81
R8821:Atp2c2	UTSW	8	120,476,033 (GRCm39)	splice site	probably null
R8831:Atp2c2	UTSW	8	120,476,033 (GRCm39)	splice site	probably null
R9200:Atp2c2	UTSW	8	120,474,999 (GRCm39)	nonsense	probably null
R9211:Atp2c2	UTSW	8	120,446,032 (GRCm39)	missense	probably benign
R9246:Atp2c2	UTSW	8	120,456,989 (GRCm39)	missense	probably damaging	1.00
R9285:Atp2c2	UTSW	8	120,465,141 (GRCm39)	missense	probably benign	0.00
RF004:Atp2c2	UTSW	8	120,479,561 (GRCm39)	missense	probably damaging	1.00
RF012:Atp2c2	UTSW	8	120,472,253 (GRCm39)	missense	possibly damaging	0.91
Z1177:Atp2c2	UTSW	8	120,461,124 (GRCm39)	missense	probably benign	0.00

Posted On

2013-12-09