Mutagenetix > Incidental Mutation

Incidental Mutation 'R1907:Atp2c2'

214477

Institutional Source

Beutler Lab

Gene Symbol

Atp2c2

Ensembl Gene

ENSMUSG00000034112

Gene Name

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

Synonyms

MMRRC Submission

039926-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119700009-119757717 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 119749876 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

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

AlphaFold

A7L9Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000095171

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112

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

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

98% (104/106)

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	A	3: 122,069,012	S206R	probably damaging	Het
Abcc6	G	T	7: 46,014,169	A357E	probably benign	Het
Abhd13	T	A	8: 9,988,170	C256S	probably benign	Het
Actrt3	A	G	3: 30,598,567	V126A	probably damaging	Het
Adgrv1	A	G	13: 81,592,551		probably benign	Het
Alyref2	A	G	1: 171,504,270	D205G	probably damaging	Het
Amigo3	G	A	9: 108,053,636	R86Q	probably benign	Het
Ankrd50	G	C	3: 38,454,052	P1389A	probably damaging	Het
Aoah	A	G	13: 20,910,094	D183G	probably damaging	Het
Arap3	A	T	18: 37,996,671	S146T	probably benign	Het
Atp8b2	C	T	3: 89,946,276	V682M	probably benign	Het
Cacna1i	T	C	15: 80,375,264	I1245T	probably damaging	Het
Card14	A	G	11: 119,331,259	N460S	probably benign	Het
Ceacam5	A	G	7: 17,752,384	D602G	possibly damaging	Het
Cecr2	T	A	6: 120,761,160	H921Q	probably benign	Het
Cyb5d1	T	C	11: 69,394,740	D115G	probably benign	Het
Dbp	C	T	7: 45,708,320	T67I	possibly damaging	Het
Dennd5b	C	T	6: 149,041,576	V601I	probably benign	Het
Dnah11	G	A	12: 118,127,556	A947V	possibly damaging	Het
Dpysl3	T	A	18: 43,438,128	D27V	probably damaging	Het
Drd1	A	T	13: 54,053,252	D307E	possibly damaging	Het
Dscaml1	G	A	9: 45,740,480	G277D	probably damaging	Het
Eif4g3	C	T	4: 138,158,415	R842W	probably damaging	Het
Enam	C	T	5: 88,504,622	T1330I	possibly damaging	Het
Fabp6	T	C	11: 43,596,167		probably null	Het
Fam160a1	T	C	3: 85,672,633	D755G	probably benign	Het
Fsip2	C	T	2: 82,983,428	P3364S	possibly damaging	Het
Fuk	A	T	8: 110,893,378	L289*	probably null	Het
Gad1	C	T	2: 70,579,138	S191F	possibly damaging	Het
Gcm1	A	C	9: 78,064,773	N332T	probably benign	Het
Gin1	G	A	1: 97,775,447		probably benign	Het
Gpr25	T	C	1: 136,260,800	D25G	probably benign	Het
Gstm4	T	C	3: 108,041,277	T172A	probably benign	Het
Hnrnpll	A	G	17: 80,035,329		probably null	Het
Il12rb2	T	A	6: 67,295,286	K339*	probably null	Het
Inpp1	A	G	1: 52,789,670	*397Q	probably null	Het
Kcp	G	T	6: 29,497,835		probably benign	Het
Kdm1b	G	A	13: 47,064,120	V352I	probably benign	Het
Klhdc2	G	T	12: 69,296,960		probably benign	Het
Krt75	T	A	15: 101,573,366	T156S	possibly damaging	Het
Lag3	T	A	6: 124,909,487	I168F	possibly damaging	Het
Lama4	T	G	10: 39,072,758	V839G	probably benign	Het
Lmtk2	G	T	5: 144,175,110	V883L	probably benign	Het
Lrrc37a	C	A	11: 103,457,156	K2904N	unknown	Het
Macf1	A	T	4: 123,372,399	I4775N	probably damaging	Het
Map2k3	T	G	11: 60,932,229	S3A	possibly damaging	Het
Mast1	G	A	8: 84,916,266	R967C	probably damaging	Het
Mettl2	T	G	11: 105,126,840	S59A	probably benign	Het
Mtr	G	A	13: 12,225,532	T530I	probably damaging	Het
Myo7b	A	T	18: 31,976,999	C1137S	possibly damaging	Het
Nacad	T	A	11: 6,602,540	H217L	probably benign	Het
Ncstn	A	T	1: 172,072,143	V324E	probably damaging	Het
Ndufaf7	C	A	17: 78,942,117	H148N	possibly damaging	Het
Olfr1048	T	C	2: 86,236,110	K242E	possibly damaging	Het
Olfr517	T	A	7: 108,868,498	I219F	possibly damaging	Het
Olfr628	T	A	7: 103,731,983	I19N	probably damaging	Het
Olfr667	G	A	7: 104,917,065	T77I	probably damaging	Het
Olfr834	T	C	9: 18,988,441	I151T	possibly damaging	Het
Olfr874	T	G	9: 37,746,433	L100V	probably benign	Het
Pcdh20	T	C	14: 88,468,704	I387V	probably benign	Het
Pclo	A	G	5: 14,678,511		probably benign	Het
Pcp2	G	A	8: 3,624,904		probably benign	Het
Pde1a	T	A	2: 79,868,307	D393V	probably damaging	Het
Pias4	T	C	10: 81,154,363	D421G	possibly damaging	Het
Pign	T	C	1: 105,638,215	T362A	possibly damaging	Het
Pik3c2g	A	C	6: 139,844,042	K304Q	probably damaging	Het
Pkd2	T	A	5: 104,486,806	W568R	probably damaging	Het
Pld2	T	A	11: 70,544,184	I306N	probably damaging	Het
Plppr3	T	C	10: 79,874,069	K9R	probably damaging	Het
Pramef6	T	A	4: 143,895,491	R431S	possibly damaging	Het
Psme4	T	C	11: 30,810,922	V397A	probably damaging	Het
Ptbp2	A	T	3: 119,761,749	S23R	probably damaging	Het
Ptpn13	A	G	5: 103,580,709	D2074G	probably null	Het
Rab34	T	A	11: 78,191,255	L166H	probably damaging	Het
Rabgap1l	T	A	1: 160,645,310	R519S	probably benign	Het
Rasa1	A	T	13: 85,226,572	L218*	probably null	Het
Reln	A	G	5: 22,044,962		probably null	Het
Rer1	T	C	4: 155,078,499	D94G	possibly damaging	Het
Rhpn1	T	C	15: 75,711,824	V386A	probably benign	Het
Samd3	T	A	10: 26,271,856	C476*	probably null	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sipa1l3	A	G	7: 29,339,167	S352P	possibly damaging	Het
Slc27a2	A	G	2: 126,586,342	Y549C	probably benign	Het
Slc7a9	A	G	7: 35,449,854	T7A	probably benign	Het
Slco4c1	C	T	1: 96,842,499	G280D	probably damaging	Het
Snx19	T	A	9: 30,433,576	V657E	probably damaging	Het
Spata31d1c	A	G	13: 65,035,876	M411V	probably benign	Het
Spice1	T	A	16: 44,357,830	L72*	probably null	Het
Stard9	G	T	2: 120,713,812	V4471L	probably damaging	Het
Syt14	A	G	1: 192,901,835	L707P	probably damaging	Het
Tab1	T	C	15: 80,153,668	I234T	probably damaging	Het
Tas2r107	T	C	6: 131,659,988	M33V	probably benign	Het
Tbx4	T	A	11: 85,914,523	S479R	possibly damaging	Het
Tssk5	C	T	15: 76,372,893	R263Q	probably benign	Het
Ttn	T	C	2: 76,870,856		probably benign	Het
Ugt2b5	T	A	5: 87,139,630	Q226L	probably benign	Het
Ush2a	C	T	1: 188,715,064	S2483L	probably benign	Het
Wdr95	A	G	5: 149,552,426	Y63C	probably damaging	Het
Xirp2	A	G	2: 67,516,356	I2980M	probably damaging	Het
Yeats4	G	A	10: 117,215,731	T207I	probably benign	Het
Ythdc1	A	G	5: 86,830,630	R561G	probably damaging	Het
Zbtb14	G	A	17: 69,387,390	E28K	possibly damaging	Het
Zfp931	A	T	2: 178,069,891	L21Q	probably damaging	Het
Zyg11b	A	C	4: 108,255,226	M415R	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
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
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'- AGTTTGTGTCAAATGCCGGGAG -3'
(R):5'- AATCCTGTTGCTTGGCCAG -3'

Sequencing Primer
(F):5'- GGGTCAGGGCCACCGTTC -3'
(R):5'- TTGGCCAGCTGAGAGCCTG -3'

Posted On

2014-07-14