Mutagenetix > Incidental Mutation

Incidental Mutation 'RF012:Atp2c2'

603274

Institutional Source

Beutler Lab

Gene Symbol

Atp2c2

Ensembl Gene

ENSMUSG00000034112

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119700009-119757717 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119745514 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 436 (A436S)

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

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

AlphaFold

A7L9Z8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095171
AA Change: A436S

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: A436S

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

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

Validation Efficiency

89% (56/63)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,489,932	L123Q	probably damaging	Het
AI837181	GCG	GCGTCG	19: 5,425,227		probably benign	Het
Akr1e1	T	A	13: 4,595,126	N242I	probably damaging	Het
Ankrd7	G	C	6: 18,869,275	E194Q	possibly damaging	Het
Ano3	A	G	2: 110,697,523	F517L	possibly damaging	Het
Arhgef4	CAAA	C	1: 34,724,484		probably benign	Het
Arid1a	AGACGACGA	AGACGA	4: 133,752,820		probably benign	Het
BC004004	T	A	17: 29,282,808	V107E	probably benign	Het
Begain	CGCCGC	CGCCGCAGCCGC	12: 109,033,427		probably benign	Het
C87499	T	A	4: 88,627,769	R445S	probably damaging	Het
Cad	GT	G	5: 31,060,212		probably benign	Het
Chil1	A	T	1: 134,185,171	T122S	probably benign	Het
Clic6	A	G	16: 92,530,809	S501G	possibly damaging	Het
Col6a3	A	C	1: 90,810,560	L1079R	probably damaging	Het
Coro2a	T	C	4: 46,542,336	K346E	probably damaging	Het
Ctsf	A	G	19: 4,858,666	N325D	probably benign	Het
Dchs2	A	G	3: 83,355,068	E2881G	probably benign	Het
Dnah14	A	G	1: 181,627,898	T863A	probably damaging	Het
Dnaic2	A	T	11: 114,750,416	I356F	probably damaging	Het
Dusp4	ACGGCGGCGGCGGC	ACGGCGGCGGC	8: 34,807,799		probably benign	Het
Efhb	T	C	17: 53,413,517	N647D	probably damaging	Het
Efhd2	CCG	CCGACGGCG	4: 141,874,768		probably benign	Het
Eif3i	A	G	4: 129,592,079	Y318H	probably damaging	Het
Fbxl5	T	C	5: 43,773,505	H80R	probably damaging	Het
Gab3	TCT	TCTGCT	X: 75,000,020		probably benign	Het
Gne	G	T	4: 44,060,045	A147D	probably damaging	Het
Gpi1	A	T	7: 34,202,477	H538Q	probably damaging	Het
Itih2	T	C	2: 10,117,403	H229R	possibly damaging	Het
Kdm7a	A	G	6: 39,206,513	V41A	probably damaging	Het
Krtap28-10	GCCACA	GCCACACCCACA	1: 83,042,136		probably benign	Het
Lipa	A	T	19: 34,509,098	S141R	probably damaging	Het
Medag	G	T	5: 149,411,994	C6F	probably benign	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,030		probably benign	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032		probably benign	Het
Nefh	GGCCTCT	GGCCTCTCCTGGGGACTTTGCCTCT	11: 4,941,055		probably benign	Het
Olfr1150-ps1	A	T	2: 87,846,759	I163L	probably benign	Het
Opa1	A	G	16: 29,613,966	I482M	probably damaging	Het
Pgf	T	C	12: 85,169,542		probably null	Het
Pkhd1l1	TTTT	TTTTTTTTTTTATTT	15: 44,558,505		probably benign	Het
Pou2f1	G	A	1: 165,913,231	T134I	unknown	Het
Prss52	A	G	14: 64,113,473	S236G	probably damaging	Het
Rpsa	A	G	9: 120,131,039	T223A	probably benign	Het
Shprh	A	G	10: 11,164,841	N686S	probably benign	Het
Six3	CGG	CGGTGG	17: 85,621,368		probably benign	Het
Six4	TG	T	12: 73,103,582		probably null	Het
Slc22a27	C	T	19: 7,926,584	G63S	probably benign	Het
Tmcc2	G	T	1: 132,361,018	N310K	probably damaging	Het
Tmem144	A	T	3: 79,822,654	L263Q	probably damaging	Het
Tpra1	T	C	6: 88,909,342	V101A	probably damaging	Het
Troap	T	C	15: 99,075,400	S16P	probably benign	Het
Ttn	T	C	2: 76,713,571	T33024A	probably benign	Het
Usp2	A	ACATGTGACCTGTTCTTCACTTACT	9: 44,089,130		probably benign	Het
Was	CTCCTCCT	C	X: 8,086,231		probably null	Het
Zfp672	A	G	11: 58,316,112	V461A	probably benign	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
R1620:Atp2c2	UTSW	8	119749126	missense	probably benign
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
Z1177:Atp2c2	UTSW	8	119734385	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAGTCCTGAGTGTGGGG -3'
(R):5'- GGGTGGGAGAGTTCTTCCC -3'

Sequencing Primer
(F):5'- GGAGGGGAGCACACACCTG -3'
(R):5'- CCAAAACTTCTAGGCCAGTGAGTG -3'

Posted On

2019-12-04