Mutagenetix > Incidental Mutation

Incidental Mutation 'R7220:Atp2c2'

561739

Institutional Source

Beutler Lab

Gene Symbol

Atp2c2

Ensembl Gene

ENSMUSG00000034112

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119700009-119757717 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119745561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 451 (M451I)

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

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

AlphaFold

A7L9Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000095171
AA Change: M451I

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

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: M451I

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	G	A	12: 55,304,415	V170M	possibly damaging	Het
5031439G07Rik	A	T	15: 84,953,136	H325Q	probably damaging	Het
Aasdh	T	C	5: 76,901,925	I75V	probably benign	Het
Abca14	G	A	7: 120,227,444	D438N	possibly damaging	Het
Abca8a	T	A	11: 110,089,967	I82F	probably benign	Het
Abca8b	G	T	11: 109,981,717	N19K	probably damaging	Het
Acan	A	G	7: 79,108,148	N506S		Het
Alox12e	C	A	11: 70,315,905	R652L	probably benign	Het
Atad3a	A	G	4: 155,754,041	V173A	probably benign	Het
Atl3	A	G	19: 7,529,068	K326R	probably null	Het
Atm	G	T	9: 53,511,917	C636*	probably null	Het
B020004J07Rik	A	G	4: 101,837,368	F106S	probably benign	Het
Best1	A	T	19: 9,992,115	M193K	probably benign	Het
Bmper	G	T	9: 23,399,355	G362C	probably damaging	Het
Brd4	T	A	17: 32,225,583	Y139F	unknown	Het
Bzw2	A	T	12: 36,123,951	I108N	possibly damaging	Het
Cbs	C	A	17: 31,619,217	V353L	probably benign	Het
Ceacam20	A	G	7: 19,967,753	T22A	probably damaging	Het
Ckap2l	C	T	2: 129,275,516	E580K	probably damaging	Het
Ckmt1	T	C	2: 121,358,893	L15P	possibly damaging	Het
Clec18a	G	T	8: 111,081,572	P66H	probably benign	Het
Cma1	G	T	14: 55,942,663	T95K	probably benign	Het
Csmd3	A	G	15: 48,457,598	V272A	probably damaging	Het
Ctnna3	A	T	10: 64,834,589	E632D	probably benign	Het
Ctsc	T	C	7: 88,297,153	L130P	probably damaging	Het
Frmpd2	A	T	14: 33,507,475	R339S	probably damaging	Het
Frrs1	C	A	3: 116,880,776	S69*	probably null	Het
Gcc2	A	T	10: 58,280,594	E1108D	probably benign	Het
Gkn1	A	T	6: 87,349,153		probably null	Het
Gtf2a1	A	T	12: 91,567,724	M252K	probably benign	Het
H2-Ob	T	C	17: 34,241,260	F115S	probably damaging	Het
Ighv1-53	T	C	12: 115,158,515	N80S	probably benign	Het
Ighv1-67	T	C	12: 115,604,046	K82R	probably benign	Het
Ints1	A	T	5: 139,762,073	I1193N	possibly damaging	Het
Kmt2c	A	G	5: 25,344,925	F1353L	probably damaging	Het
Luc7l	C	T	17: 26,253,245		probably benign	Het
Man1a	A	C	10: 53,920,235	S454A	possibly damaging	Het
Mars2	C	A	1: 55,238,063	A275D	probably damaging	Het
Nrde2	A	G	12: 100,130,919	V874A	probably benign	Het
Ociad1	A	G	5: 73,313,466	T244A	probably benign	Het
Olfr139	A	T	11: 74,044,763	D170E	possibly damaging	Het
Olfr25	A	T	9: 38,329,750	L51F	probably damaging	Het
Olfr418	A	G	1: 173,270,244	Y23C	possibly damaging	Het
Ovca2	A	G	11: 75,178,675	C41R	possibly damaging	Het
Pacsin2	A	T	15: 83,385,059	D11E	probably damaging	Het
Pcdh15	G	A	10: 74,342,609	S566N	possibly damaging	Het
Pde3b	A	G	7: 114,536,062	I1038M	probably damaging	Het
Pi16	C	A	17: 29,319,234	P7Q	possibly damaging	Het
Pkhd1	T	A	1: 20,523,126	T1588S	possibly damaging	Het
Ppig	A	G	2: 69,749,976	D618G	unknown	Het
Prss51	A	T	14: 64,095,995	K18*	probably null	Het
Ptpra	T	A	2: 130,544,497	D622E	probably damaging	Het
Ptprs	A	T	17: 56,418,988	F1431L	probably benign	Het
Pxdn	A	G	12: 29,994,480	I486V	probably benign	Het
Rnpc3	G	A	3: 113,628,355	A77V	probably benign	Het
Rtl10	T	A	16: 18,501,276	C85*	probably null	Het
Skint10	A	G	4: 112,728,973	S149P	probably benign	Het
Slc17a8	A	C	10: 89,576,413	V570G	probably benign	Het
Slc25a42	A	T	8: 70,189,498	V98E	probably damaging	Het
Smco2	A	G	6: 146,858,865	E73G	probably benign	Het
Ss18	T	C	18: 14,679,420	Y38C	probably damaging	Het
Sspo	T	A	6: 48,476,606	C2909*	probably null	Het
Tbccd1	A	G	16: 22,833,997	Y125H	probably benign	Het
Tdrd9	A	G	12: 112,014,454	T446A	probably damaging	Het
Tecta	G	T	9: 42,343,887	Q1672K	probably benign	Het
Tek	G	C	4: 94,804,304	W216C	probably damaging	Het
Timm17a	C	T	1: 135,313,575		probably null	Het
Tlr4	A	T	4: 66,839,951	H327L	probably benign	Het
Trim33	T	C	3: 103,326,793	I449T	possibly damaging	Het
Vmn1r57	A	G	7: 5,220,560	N28S	probably null	Het
Vmn2r117	T	A	17: 23,477,203	H410L	probably damaging	Het
Vmn2r16	A	G	5: 109,360,906	E500G	probably damaging	Het
Wif1	A	G	10: 121,090,114	N245S	possibly 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
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
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'- TCTCATAGCCTGGCCCAG -3'
(R):5'- GGGGTGGGAGAGTTCTTCCC -3'

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

Posted On

2019-06-26