Mutagenetix > Incidental Mutation

Incidental Mutation 'R1620:Atp2c2'

174614

Institutional Source

Beutler Lab

Gene Symbol

Atp2c2

Ensembl Gene

ENSMUSG00000034112

Gene Name

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

Synonyms

MMRRC Submission

039657-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119700009-119757717 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119749126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 586 (V586A)

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

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

AlphaFold

A7L9Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000095171
AA Change: V586A

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

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: V586A

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

0.0758

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.6%
20x: 90.1%

Validation Efficiency

95% (58/61)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a2	T	A	14: 59,791,183	H945L	probably benign	Het
Bfar	G	T	16: 13,688,846	V187F	probably damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Capn2	A	T	1: 182,517,137	I73N	probably damaging	Het
Cfc1	C	A	1: 34,536,473	A76E	possibly damaging	Het
Chl1	T	C	6: 103,690,242	F398L	probably benign	Het
Cyp2u1	A	G	3: 131,302,701	S143P	probably damaging	Het
Dlgap4	T	A	2: 156,749,136	Y57*	probably null	Het
Epha4	T	A	1: 77,374,926	R897S	probably benign	Het
Fscn2	A	T	11: 120,366,685	T291S	probably damaging	Het
Gga1	G	A	15: 78,888,470	S267N	probably damaging	Het
Gigyf2	A	G	1: 87,449,128	T1287A	probably damaging	Het
Gm10037	T	C	13: 67,842,990		probably benign	Het
Gm10845	C	A	14: 79,863,229		noncoding transcript	Het
Gm11559	T	A	11: 99,865,056	L177Q	unknown	Het
Itga9	A	G	9: 118,843,502	T195A	probably benign	Het
Lama1	A	G	17: 67,767,033	T935A	probably benign	Het
Lrrk1	G	T	7: 66,381,538	T4K	probably benign	Het
Lrrn1	G	A	6: 107,568,366	C375Y	probably damaging	Het
Maip1	T	C	1: 57,409,985		probably null	Het
Mecom	A	T	3: 29,987,088	I119N	probably damaging	Het
Mrpl2	G	A	17: 46,647,499	R69H	probably benign	Het
Muc16	A	G	9: 18,510,477	V8246A	possibly damaging	Het
Myh3	C	T	11: 67,088,736		probably benign	Het
Myocd	A	G	11: 65,196,394	S236P	probably benign	Het
Myot	A	T	18: 44,337,058	Q34L	possibly damaging	Het
Nlrp5	A	G	7: 23,418,639	D596G	probably damaging	Het
Npas2	T	C	1: 39,333,912	S415P	possibly damaging	Het
Obox2	A	G	7: 15,397,041	E66G	probably benign	Het
Olfr1312	G	T	2: 112,042,246	T262K	probably benign	Het
Pcdh9	G	A	14: 93,888,305	P143L	probably damaging	Het
Phactr1	G	T	13: 43,094,897	V356L	probably damaging	Het
Pparg	A	T	6: 115,473,281	I414L	probably benign	Het
Rapgef6	A	T	11: 54,626,594	I371L	possibly damaging	Het
Rc3h1	T	C	1: 160,954,973	V674A	probably benign	Het
Rps6ka4	T	C	19: 6,838,149	Y159C	probably damaging	Het
Sf3b6	T	C	12: 4,826,808	I67T	possibly damaging	Het
Spata17	T	C	1: 187,183,215		probably benign	Het
Ston1	A	G	17: 88,635,816	T217A	probably benign	Het
Tank	A	G	2: 61,650,098	D326G	possibly damaging	Het
Tbc1d9	T	A	8: 83,249,595	N594K	probably damaging	Het
Tfpi2	T	A	6: 3,965,507	T102S	probably benign	Het
Ulk4	T	G	9: 121,204,805	E589D	possibly damaging	Het
Usp40	A	T	1: 87,994,225	H305Q	probably damaging	Het
Vmn1r170	A	G	7: 23,606,329	K52R	probably benign	Het
Vmn1r194	A	G	13: 22,244,963	D250G	probably damaging	Het
Wdr6	A	T	9: 108,574,655	D676E	possibly damaging	Het
Xirp2	T	A	2: 67,510,835	V1140E	probably damaging	Het

Other mutations in Atp2c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Atp2c2	APN	8	119745590	missense	probably benign
IGL01624:Atp2c2	APN	8	119757450	missense	probably benign	0.00
IGL02133:Atp2c2	APN	8	119754335	missense	probably benign	0.00
IGL02221:Atp2c2	APN	8	119744334	missense	probably damaging	1.00
IGL02606:Atp2c2	APN	8	119730274	missense	probably benign
IGL02657:Atp2c2	APN	8	119753032	missense	probably damaging	1.00
IGL02839:Atp2c2	APN	8	119749120	missense	possibly damaging	0.85
IGL03122:Atp2c2	APN	8	119742675	missense	possibly damaging	0.77
R0031:Atp2c2	UTSW	8	119749062	missense	probably benign	0.15
R0372:Atp2c2	UTSW	8	119757441	missense	probably benign
R0502:Atp2c2	UTSW	8	119734577	missense	probably null	0.99
R0503:Atp2c2	UTSW	8	119734577	missense	probably null	0.99
R0584:Atp2c2	UTSW	8	119738418	missense	probably benign	0.01
R1225:Atp2c2	UTSW	8	119735245	missense	probably damaging	1.00
R1580:Atp2c2	UTSW	8	119752987	missense	probably benign	0.00
R1638:Atp2c2	UTSW	8	119756003	missense	possibly damaging	0.82
R1745:Atp2c2	UTSW	8	119725094	missense	probably benign	0.02
R1746:Atp2c2	UTSW	8	119734443	unclassified	probably benign
R1907:Atp2c2	UTSW	8	119749876	splice site	probably benign
R2104:Atp2c2	UTSW	8	119749845	missense	probably benign
R2151:Atp2c2	UTSW	8	119756102	missense	probably benign
R2152:Atp2c2	UTSW	8	119756102	missense	probably benign
R2154:Atp2c2	UTSW	8	119756102	missense	probably benign
R2207:Atp2c2	UTSW	8	119748309	missense	probably damaging	1.00
R3874:Atp2c2	UTSW	8	119735296	missense	possibly damaging	0.74
R3912:Atp2c2	UTSW	8	119721276	missense	probably damaging	1.00
R4093:Atp2c2	UTSW	8	119749871	critical splice donor site	probably null
R4782:Atp2c2	UTSW	8	119749152	missense	probably damaging	0.97
R4801:Atp2c2	UTSW	8	119747687	missense	probably damaging	1.00
R4973:Atp2c2	UTSW	8	119754263	missense	probably benign	0.00
R5485:Atp2c2	UTSW	8	119753062	critical splice donor site	probably null
R5978:Atp2c2	UTSW	8	119749875	splice site	probably null
R6377:Atp2c2	UTSW	8	119726354	missense	probably benign	0.10
R6613:Atp2c2	UTSW	8	119756021	missense	probably damaging	0.99
R6765:Atp2c2	UTSW	8	119753017	missense	probably damaging	1.00
R6836:Atp2c2	UTSW	8	119734415	missense	probably damaging	1.00
R6963:Atp2c2	UTSW	8	119730267	nonsense	probably null
R7220:Atp2c2	UTSW	8	119745561	missense	probably benign	0.00
R7238:Atp2c2	UTSW	8	119742421	missense	possibly damaging	0.73
R7373:Atp2c2	UTSW	8	119730252	missense	probably benign	0.02
R7438:Atp2c2	UTSW	8	119748197	missense	probably damaging	1.00
R7573:Atp2c2	UTSW	8	119751269	missense	probably damaging	1.00
R7677:Atp2c2	UTSW	8	119748176	missense	probably benign	0.00
R7737:Atp2c2	UTSW	8	119742395	missense	probably damaging	1.00
R7912:Atp2c2	UTSW	8	119730178	missense	possibly damaging	0.81
R8821:Atp2c2	UTSW	8	119749294	splice site	probably null
R8831:Atp2c2	UTSW	8	119749294	splice site	probably null
R9200:Atp2c2	UTSW	8	119748260	nonsense	probably null
R9211:Atp2c2	UTSW	8	119719293	missense	probably benign
R9246:Atp2c2	UTSW	8	119730250	missense	probably damaging	1.00
R9285:Atp2c2	UTSW	8	119738402	missense	probably benign	0.00
RF004:Atp2c2	UTSW	8	119752822	missense	probably damaging	1.00
RF012:Atp2c2	UTSW	8	119745514	missense	possibly damaging	0.91
Z1177:Atp2c2	UTSW	8	119734385	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGTTGCCCCAAGAGACACAGTAG -3'
(R):5'- TCAAAGATGCCCAGCCAATGGAG -3'

Sequencing Primer
(F):5'- CACAGTAGGGCTTGCTAGG -3'
(R):5'- ACTTGTGCATTGACATCACAGC -3'

Posted On

2014-04-24