Mutagenetix > Incidental Mutation

Incidental Mutation 'R4973:Atp2c2'

382389

Institutional Source

Beutler Lab

Gene Symbol

Atp2c2

Ensembl Gene

ENSMUSG00000034112

Gene Name

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

Synonyms

MMRRC Submission

042568-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119700009-119757717 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119754263 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 797 (T797A)

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

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

AlphaFold

A7L9Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000095171
AA Change: T797A

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

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: T797A

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

0.0675

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.9%

Validation Efficiency

97% (115/118)

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	A	2: 152,440,888	I221K	possibly damaging	Het
Abhd16a	T	A	17: 35,102,342	S498T	probably benign	Het
Adamts18	G	A	8: 113,736,725	R830*	probably null	Het
Ankrd27	A	G	7: 35,632,992	D848G	probably benign	Het
Art3	A	G	5: 92,403,619	Y279C	probably damaging	Het
Ccdc121	A	T	1: 181,511,264	V41E	possibly damaging	Het
Ccdc122	A	T	14: 77,067,941	I12F	possibly damaging	Het
Ccdc154	T	C	17: 25,170,914	L508P	probably damaging	Het
Cdk5r2	A	G	1: 74,855,672	D192G	probably damaging	Het
Cgn	C	T	3: 94,778,254	A320T	probably benign	Het
Cklf	A	G	8: 104,261,552	K106E	probably benign	Het
Clec12a	C	A	6: 129,353,665	T70K	probably benign	Het
Clock	A	G	5: 76,254,411	V134A	possibly damaging	Het
CN725425	G	A	15: 91,245,701	A256T	possibly damaging	Het
Csf1r	A	T	18: 61,129,047	I792F	probably damaging	Het
Csn1s1	T	G	5: 87,673,261	S33A	probably benign	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
D3Ertd254e	C	T	3: 36,164,136	R102C	possibly damaging	Het
D5Ertd579e	A	G	5: 36,672,905	V25A	probably benign	Het
D630045J12Rik	C	T	6: 38,148,367	V1571M	possibly damaging	Het
Ddx5	C	A	11: 106,785,007	V286L	possibly damaging	Het
Deup1	G	A	9: 15,612,014	Q58*	probably null	Het
Dnhd1	T	G	7: 105,713,633	L3801V	probably benign	Het
Dph2	T	A	4: 117,891,330	D82V	probably damaging	Het
Ercc6	A	G	14: 32,574,902	D1283G	probably damaging	Het
Evi5l	G	T	8: 4,205,406	V477L	probably benign	Het
Fam91a1	A	G	15: 58,431,210	T323A	probably benign	Het
Fanca	G	A	8: 123,308,522	T228M	probably damaging	Het
Fat4	T	G	3: 38,983,046	S3616A	probably benign	Het
Fbxo16	G	T	14: 65,321,297	A302S	probably benign	Het
Fkbp5	T	C	17: 28,428,369	E164G	probably damaging	Het
Fpr-rs3	T	C	17: 20,623,949	Y310C	possibly damaging	Het
Fsip2	T	C	2: 82,984,825	I3634T	probably benign	Het
Gm6327	T	C	16: 12,760,981		noncoding transcript	Het
Gnl3	A	T	14: 31,013,505	N411K	possibly damaging	Het
Golga1	A	T	2: 39,039,106	D308E	probably damaging	Het
Gpbar1	TACCAC	TAC	1: 74,279,545		probably benign	Het
Gsap	A	T	5: 21,254,039	T501S	probably benign	Het
Helq	A	G	5: 100,792,871		probably benign	Het
Hmcn2	A	G	2: 31,344,096	H291R	probably benign	Het
Htt	A	T	5: 34,813,023	D505V	probably damaging	Het
Ildr1	C	T	16: 36,708,298	T35I	probably benign	Het
Iqgap2	A	G	13: 95,657,797		probably null	Het
Kansl1	C	T	11: 104,424,321	R297H	probably damaging	Het
Kat2b-ps	T	C	5: 93,391,785		noncoding transcript	Het
Kbtbd2	A	G	6: 56,781,958	F60S	probably benign	Het
Kcnt2	A	T	1: 140,609,650	S1116C	probably damaging	Het
Krt9	C	T	11: 100,188,712	G618E	unknown	Het
Lsm5	A	T	6: 56,703,324	D44E	probably damaging	Het
Mdn1	A	G	4: 32,734,418	D3275G	probably benign	Het
Mindy2	A	T	9: 70,605,171	V599E	possibly damaging	Het
Nelfa	A	G	5: 33,901,818	V231A	probably benign	Het
Nepro	T	C	16: 44,734,793	Y411H	probably benign	Het
Nes	T	A	3: 87,975,676	L414Q	probably damaging	Het
Neurl2	T	A	2: 164,833,202		probably null	Het
Nkx1-1	G	T	5: 33,431,066	Q293K	possibly damaging	Het
Nphp3	C	T	9: 104,031,999	H803Y	probably benign	Het
Obscn	A	G	11: 59,132,466	V695A	probably damaging	Het
Olfr105-ps	G	A	17: 37,383,019	A151T	probably damaging	Het
Olfr1178	T	A	2: 88,391,330	L28I	probably benign	Het
Olfr1204	T	C	2: 88,852,172	V74A	possibly damaging	Het
Olfr1293-ps	T	A	2: 111,527,624	F103L	probably damaging	Het
Olfr1417	A	G	19: 11,828,936	L30P	probably benign	Het
Olfr330	T	C	11: 58,529,077	E303G	probably benign	Het
Olfr453	T	C	6: 42,744,687	S217P	probably damaging	Het
Olfr855	A	G	9: 19,585,208	T224A	probably benign	Het
Olfr926	A	G	9: 38,878,104	*309W	probably null	Het
Orai3	T	A	7: 127,774,176	L283Q	probably damaging	Het
Pcdhb13	A	T	18: 37,443,184	D205V	probably benign	Het
Pdlim5	G	A	3: 142,311,979		probably benign	Het
Pdzd2	A	G	15: 12,375,648	V1467A	probably damaging	Het
Pgm3	A	G	9: 86,562,679	S268P	probably benign	Het
Piezo2	A	T	18: 63,074,680	I1420N	probably damaging	Het
Pigp	C	A	16: 94,359,147	G134V	probably benign	Het
Pik3c2g	T	C	6: 139,843,931	Y385H	possibly damaging	Het
Pnliprp2	G	A	19: 58,766,318	E265K	probably benign	Het
Psmd13	T	A	7: 140,886,853	Y117*	probably null	Het
Ptprq	C	T	10: 107,686,555	V546I	probably damaging	Het
Pum1	T	G	4: 130,669,137	S68A	probably benign	Het
Rnf167	T	A	11: 70,649,875		probably benign	Het
Rnf213	T	C	11: 119,428,157	V1148A	possibly damaging	Het
Rnf216	T	C	5: 143,090,316	E271G	probably benign	Het
Ros1	A	T	10: 52,154,991	I506N	probably damaging	Het
Rpl37	G	A	15: 5,117,646	R56Q	possibly damaging	Het
Rpl41	A	C	10: 128,548,707		probably benign	Het
Rttn	A	T	18: 89,042,168	H998L	probably damaging	Het
Sacs	G	T	14: 61,213,122	A4206S	probably damaging	Het
Slc22a14	CTTTCCTGAA	C	9: 119,174,035		probably benign	Het
Slc36a3	T	C	11: 55,146,804		probably benign	Het
Slc39a3	A	T	10: 81,030,962	W317R	probably damaging	Het
Snd1	C	A	6: 28,884,251	Y766*	probably null	Het
Snrpd1	T	C	18: 10,626,835	V34A	probably benign	Het
Spire2	T	A	8: 123,356,844	I189N	probably damaging	Het
Stard6	A	C	18: 70,498,560	D74A	possibly damaging	Het
Sufu	C	T	19: 46,475,552	T401I	possibly damaging	Het
Taar7b	T	A	10: 24,000,345	F136Y	probably benign	Het
Taf6	G	A	5: 138,183,203	Q156*	probably null	Het
Tcp11l2	A	G	10: 84,591,163	I164V	probably damaging	Het
Tead4	T	C	6: 128,270,987	D29G	probably damaging	Het
Tns4	G	T	11: 99,075,213	P448Q	probably damaging	Het
Trappc9	G	T	15: 72,937,056	N540K	probably damaging	Het
Trbv29	C	T	6: 41,271,854	S106F	probably damaging	Het
Usp16	T	A	16: 87,480,914	M684K	probably damaging	Het
Usp45	A	T	4: 21,815,372	T362S	probably damaging	Het
Vcan	A	T	13: 89,688,842	M2861K	probably benign	Het
Vps8	T	C	16: 21,459,786	S267P	probably damaging	Het
Wdfy3	C	T	5: 101,943,119	D532N	probably benign	Het
Zbtb34	T	A	2: 33,411,614	Q305L	probably benign	Het
Zfp352	T	A	4: 90,224,139	V172E	probably benign	Het
Zfp454	T	C	11: 50,874,123	N161D	probably benign	Het
Zfp804b	A	T	5: 6,771,198	S622T	probably damaging	Het
Zswim4	G	T	8: 84,212,223	A1010D	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
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'- TGAGTCCATGCCAGGTATCC -3'
(R):5'- AGAGAGCACTCAGTCTCCAG -3'

Sequencing Primer
(F):5'- ATGTAACCCAGACTGGCCTTG -3'
(R):5'- ACTCAGTCTCCAGTGCCCAG -3'

Posted On

2016-04-27