Mutagenetix > Incidental Mutation

Incidental Mutation 'R1746:Atp2c2'

193989

Institutional Source

Beutler Lab

Gene Symbol

Atp2c2

Ensembl Gene

ENSMUSG00000034112

Gene Name

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

Synonyms

MMRRC Submission

039778-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1746 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119700009-119757717 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 119734443 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095171] [ENSMUST00000212454]

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212454

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	T	A	13: 70,779,598		probably null	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Aknad1	A	G	3: 108,751,783	T38A	possibly damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arhgap21	T	C	2: 20,861,099	E902G	probably damaging	Het
Atg2b	A	G	12: 105,669,329	S227P	possibly damaging	Het
Atxn10	T	C	15: 85,376,663	V203A	probably damaging	Het
Chd9	A	C	8: 91,010,698	E1468D	probably benign	Het
Cntn5	T	A	9: 9,831,572	D601V	probably damaging	Het
Col4a2	G	A	8: 11,446,020	G1547D	probably benign	Het
Cul1	A	G	6: 47,508,245	E270G	probably damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dmgdh	C	A	13: 93,752,425	T857K	probably benign	Het
Ednra	T	G	8: 77,671,582	T279P	probably benign	Het
Erbin	A	G	13: 103,850,831	I407T	probably damaging	Het
Fggy	A	G	4: 95,926,728	Y440C	probably damaging	Het
Flrt2	A	T	12: 95,780,792	N635Y	possibly damaging	Het
Fnbp1l	A	G	3: 122,556,491	I357T	probably benign	Het
Gulp1	A	G	1: 44,754,353	H58R	possibly damaging	Het
Hid1	A	T	11: 115,354,638	V446E	probably damaging	Het
Igfn1	A	G	1: 135,969,823	S1002P	possibly damaging	Het
Klri1	A	G	6: 129,698,155		probably null	Het
Kmt2d	A	C	15: 98,864,378	L409R	probably damaging	Het
Ltn1	A	C	16: 87,411,781	S810A	possibly damaging	Het
Mysm1	G	A	4: 94,948,411	Q721*	probably null	Het
Nae1	A	G	8: 104,527,385	V105A	possibly damaging	Het
Nagpa	C	T	16: 5,203,639	V83M	probably damaging	Het
Nrg2	G	A	18: 36,021,922	T503M	probably damaging	Het
Nrxn3	A	G	12: 89,255,019	M150V	possibly damaging	Het
Olfr472	C	A	7: 107,902,886	H56Q	probably benign	Het
Olfr945	A	G	9: 39,258,202	S157P	probably damaging	Het
Papola	T	A	12: 105,807,209	D162E	probably benign	Het
Plxnc1	T	C	10: 94,844,179		probably null	Het
Ppp1r16b	T	A	2: 158,746,665		probably null	Het
Ptprq	T	A	10: 107,638,830	E1338V	probably damaging	Het
Puf60	G	A	15: 76,070,784	H437Y	probably benign	Het
Qsox2	C	T	2: 26,220,638	V189I	probably benign	Het
Rad51ap2	A	T	12: 11,457,775	D566V	probably benign	Het
Rb1cc1	T	A	1: 6,263,013		probably null	Het
Rfpl4b	C	T	10: 38,821,053	C184Y	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rundc3a	GAGCC	GAGCCAGCC	11: 102,400,913		probably null	Het
Scara5	A	C	14: 65,731,090	M271L	probably benign	Het
Sel1l2	A	G	2: 140,285,237	L118P	probably damaging	Het
Sema6a	T	A	18: 47,306,349		probably benign	Het
Siglech	T	A	7: 55,768,504	H73Q	probably benign	Het
Sim1	A	G	10: 50,984,109	D689G	probably benign	Het
Skp2	T	C	15: 9,139,443	E55G	possibly damaging	Het
Slc1a1	T	A	19: 28,894,469	V114E	probably benign	Het
Slc26a6	G	A	9: 108,861,717	G614D	probably benign	Het
Sptbn2	C	T	19: 4,745,964	Q1724*	probably null	Het
Tet3	T	C	6: 83,368,068	T1796A	probably damaging	Het
Tmem117	A	C	15: 94,931,833	D183A	possibly damaging	Het
Trmt44	A	G	5: 35,564,059	S587P	probably benign	Het
Ttn	G	T	2: 76,788,822		probably benign	Het
Tubgcp5	G	A	7: 55,808,537	V399M	probably benign	Het
Txndc2	T	A	17: 65,638,135	D349V	probably damaging	Het
Uggt2	T	A	14: 119,013,503	N1194I	probably benign	Het
Vmn1r178	A	T	7: 23,893,904	I53L	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	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
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'- AGATCTCCTGGTGGATGAATCCAGC -3'
(R):5'- GTATGATCCCAAATCCCGTGTCCTC -3'

Sequencing Primer
(F):5'- TGGATGAATCCAGCTTCACAG -3'
(R):5'- TCCGACTTAGAACAAGTCTGGTG -3'

Posted On

2014-05-23