Mutagenetix > Incidental Mutation

Incidental Mutation 'R2154:Atp2c2'

234629

Institutional Source

Beutler Lab

Gene Symbol

Atp2c2

Ensembl Gene

ENSMUSG00000034112

Gene Name

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

Synonyms

1810010G06Rik

MMRRC Submission

040157-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120426748-120484456 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120482841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 901 (N901S)

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: N901S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: N901S

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

Meta Mutation Damage Score

0.0691

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,208,959 (GRCm39)	E363G	probably benign	Het
Abca3	A	G	17: 24,596,693 (GRCm39)	Y382C	probably damaging	Het
Abca5	A	G	11: 110,183,000 (GRCm39)	I1019T	probably benign	Het
Acox3	A	T	5: 35,762,568 (GRCm39)	S481C	probably damaging	Het
Ankrd7	T	A	6: 18,870,030 (GRCm39)	M261K	probably benign	Het
Aqr	A	C	2: 113,967,485 (GRCm39)	M510R	probably damaging	Het
Arpc1a	A	T	5: 145,029,369 (GRCm39)	T56S	probably benign	Het
Asap2	A	T	12: 21,162,084 (GRCm39)	T14S	probably damaging	Het
Aspg	A	G	12: 112,087,408 (GRCm39)	E288G	probably benign	Het
Cabcoco1	A	G	10: 68,267,092 (GRCm39)	L205P	probably damaging	Het
Cant1	A	G	11: 118,302,263 (GRCm39)	L18P	probably damaging	Het
Cdca2	G	A	14: 67,914,425 (GRCm39)	P945S	probably damaging	Het
Cfap74	A	G	4: 155,513,753 (GRCm39)	K522E	possibly damaging	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cpa6	A	T	1: 10,407,547 (GRCm39)	M330K	probably damaging	Het
Creb3l4	G	T	3: 90,145,792 (GRCm39)	N246K	probably damaging	Het
Cyp2c55	T	A	19: 39,022,819 (GRCm39)	V319D	probably damaging	Het
Dapk1	T	A	13: 60,877,317 (GRCm39)	S519T	probably benign	Het
Dhx38	T	C	8: 110,287,306 (GRCm39)	S221G	probably benign	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dock4	T	A	12: 40,870,661 (GRCm39)	V1467E	probably damaging	Het
Dock4	ACCTGCTCTGCC	ACCTGCTCTGCCTGCTCTGCC	12: 40,894,547 (GRCm39)		probably benign	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Ercc6l2	T	C	13: 64,013,821 (GRCm39)	S631P	probably damaging	Het
Fat4	A	T	3: 38,941,688 (GRCm39)	S194C	probably damaging	Het
Fcsk	T	A	8: 111,615,704 (GRCm39)	T542S	probably benign	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gdf10	T	C	14: 33,656,346 (GRCm39)	I436T	probably damaging	Het
Gfod1	T	C	13: 43,456,946 (GRCm39)	T10A	possibly damaging	Het
Gucy1a1	A	G	3: 82,018,458 (GRCm39)		probably null	Het
Heatr5b	G	T	17: 79,138,873 (GRCm39)	Q90K	probably benign	Het
Ikzf3	T	A	11: 98,376,475 (GRCm39)	K211*	probably null	Het
Itgam	A	C	7: 127,684,749 (GRCm39)	D373A	probably damaging	Het
Itpripl2	A	G	7: 118,089,107 (GRCm39)	F484S	probably damaging	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kif16b	T	C	2: 142,532,500 (GRCm39)	K1213R	probably damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Mmp25	T	A	17: 23,850,048 (GRCm39)	Y504F	probably damaging	Het
Mtf2	A	G	5: 108,228,797 (GRCm39)	K38E	possibly damaging	Het
Myh14	A	C	7: 44,301,853 (GRCm39)		probably null	Het
Nedd4l	T	A	18: 65,343,401 (GRCm39)	H820Q	probably damaging	Het
Nfkb1	T	C	3: 135,307,240 (GRCm39)	T562A	probably benign	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Pds5a	A	T	5: 65,807,841 (GRCm39)	V464E	probably damaging	Het
Peak1	C	T	9: 56,114,496 (GRCm39)	V452M	probably damaging	Het
Phf2	T	C	13: 48,973,549 (GRCm39)	Y372C	unknown	Het
Poc1a	T	A	9: 106,162,773 (GRCm39)		probably null	Het
Prss33	C	T	17: 24,053,817 (GRCm39)	V87M	probably damaging	Het
Psmc2	C	G	5: 22,008,127 (GRCm39)	L344V	possibly damaging	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Rabgap1	T	C	2: 37,365,453 (GRCm39)	V242A	probably damaging	Het
Rad1	C	A	15: 10,486,721 (GRCm39)	H39Q	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Samd9l	C	T	6: 3,372,945 (GRCm39)	D1439N	possibly damaging	Het
Sbno1	A	T	5: 124,516,574 (GRCm39)	D1266E	probably benign	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc22a13	T	C	9: 119,037,753 (GRCm39)	K125R	probably benign	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Smg1	A	T	7: 117,757,299 (GRCm39)		probably benign	Het
Spinkl	A	T	18: 44,302,194 (GRCm39)	N32K	probably benign	Het
Stxbp1	T	A	2: 32,692,868 (GRCm39)	I383F	probably damaging	Het
Taf3	C	T	2: 9,956,377 (GRCm39)	E597K	possibly damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tmco6	T	C	18: 36,874,740 (GRCm39)	V409A	probably benign	Het
Tstd2	T	C	4: 46,129,235 (GRCm39)	T198A	probably damaging	Het
Vmn1r230	T	A	17: 21,067,063 (GRCm39)	M84K	probably damaging	Het
Vmn1r45	T	A	6: 89,910,965 (GRCm39)	S2C	possibly damaging	Het
Vmn2r25	T	A	6: 123,816,805 (GRCm39)	T259S	probably benign	Het
Vmn2r70	A	G	7: 85,212,923 (GRCm39)	S495P	possibly damaging	Het
Vmn2r97	A	T	17: 19,167,584 (GRCm39)	R613*	probably null	Het
Yme1l1	T	C	2: 23,052,520 (GRCm39)	L58P	probably damaging	Het
Zan	G	A	5: 137,412,511 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,466,801 (GRCm39)	T2320A	possibly damaging	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	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
IGL01624:Atp2c2	APN	8	120,484,189 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTCATTCCATCAGGGGCTCC -3'
(R):5'- GCACAGTGACTTCCTTTTGC -3'

Sequencing Primer
(F):5'- ACAGACTGCATGGTGTCCCTG -3'
(R):5'- ACAGTGACTTCCTTTTGCACTTC -3'

Posted On

2014-10-01