Mutagenetix > Incidental Mutation

Incidental Mutation 'R7573:Atp2c2'

586166

Institutional Source

Beutler Lab

Gene Symbol

Atp2c2

Ensembl Gene

ENSMUSG00000034112

Gene Name

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

Synonyms

MMRRC Submission

045659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7573 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119700009-119757717 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119751269 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 695 (D695V)

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

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

AlphaFold

A7L9Z8

Predicted Effect

probably damaging
Transcript: ENSMUST00000095171
AA Change: D695V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: D695V

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: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,573,268 (GRCm38)	I49F		Het
1810055G02Rik	T	A	19: 3,715,728 (GRCm38)	M1K	probably null	Het
A430078G23Rik	A	G	8: 3,384,918 (GRCm38)	R188G	probably damaging	Het
Abcb1b	G	A	5: 8,828,866 (GRCm38)	C750Y	possibly damaging	Het
Abi2	T	A	1: 60,470,708 (GRCm38)	V412D	probably benign	Het
Alk	C	T	17: 71,900,792 (GRCm38)	V983M	probably damaging	Het
Alppl2	A	T	1: 87,088,231 (GRCm38)	W266R	possibly damaging	Het
B3gnt4	A	T	5: 123,510,655 (GRCm38)	I28L	probably benign	Het
C2cd3	A	G	7: 100,419,707 (GRCm38)	D536G		Het
Cacna1c	A	G	6: 118,604,445 (GRCm38)	S1733P		Het
Cacna1e	T	C	1: 154,726,165 (GRCm38)		probably benign	Het
Capns1	A	G	7: 30,192,535 (GRCm38)	F101L	probably damaging	Het
Ccdc180	A	G	4: 45,922,015 (GRCm38)	T1030A	probably benign	Het
Cdh23	T	C	10: 60,323,550 (GRCm38)	T2151A	probably benign	Het
Cenpe	T	A	3: 135,247,459 (GRCm38)	L1558Q	probably damaging	Het
Cfap157	T	C	2: 32,777,508 (GRCm38)	H521R	probably benign	Het
Crygs	T	A	16: 22,805,319 (GRCm38)	*179C	probably null	Het
Ctsb	T	C	14: 63,138,101 (GRCm38)	V172A	probably benign	Het
Cul9	T	C	17: 46,519,910 (GRCm38)	T1686A	probably benign	Het
Cutc	T	C	19: 43,759,943 (GRCm38)	V95A	probably benign	Het
Cxcl3	A	G	5: 90,786,246 (GRCm38)	T26A	probably benign	Het
Dnah9	A	G	11: 66,125,215 (GRCm38)	V400A	probably benign	Het
Dysf	A	T	6: 84,130,122 (GRCm38)	N1139I	possibly damaging	Het
Fam136a	G	A	6: 86,366,685 (GRCm38)	E55K	probably benign	Het
Fam151a	A	G	4: 106,743,305 (GRCm38)	D179G	probably damaging	Het
Fam178b	T	C	1: 36,632,452 (GRCm38)	D196G	probably damaging	Het
Fut9	A	T	4: 25,620,691 (GRCm38)	M41K	probably benign	Het
Gm9195	T	C	14: 72,456,682 (GRCm38)	Q1531R	probably null	Het
Gpr6	A	T	10: 41,070,872 (GRCm38)	V238D	probably damaging	Het
Hoxa2	A	T	6: 52,163,303 (GRCm38)	S234R	probably benign	Het
Itga4	A	G	2: 79,272,993 (GRCm38)	T143A	probably benign	Het
Kcnq2	A	G	2: 181,081,589 (GRCm38)	S693P	probably benign	Het
Kif13b	A	G	14: 64,803,658 (GRCm38)	I1732V	probably benign	Het
Klhl14	A	G	18: 21,652,154 (GRCm38)	V72A	probably benign	Het
Krt2	T	A	15: 101,814,519 (GRCm38)	D348V	probably benign	Het
Map4k2	A	T	19: 6,344,064 (GRCm38)	E300D	probably benign	Het
Mars1	A	G	10: 127,302,810 (GRCm38)		probably null	Het
Mpo	A	G	11: 87,797,577 (GRCm38)	D354G	probably benign	Het
Mrpl15	T	C	1: 4,777,555 (GRCm38)	T174A	probably damaging	Het
Myom2	G	A	8: 15,122,450 (GRCm38)	C1183Y	probably damaging	Het
Nfkb2	C	A	19: 46,308,643 (GRCm38)	Q336K	possibly damaging	Het
Nlrp2	A	G	7: 5,317,469 (GRCm38)		probably null	Het
Nlrp9b	T	C	7: 20,019,200 (GRCm38)	L10P	probably damaging	Het
Nrip2	A	G	6: 128,400,269 (GRCm38)	S53G	probably benign	Het
Or13a22	G	A	7: 140,492,999 (GRCm38)	M120I	probably damaging	Het
Or4k36	T	C	2: 111,315,932 (GRCm38)	I151T	probably benign	Het
Or52a5b	A	G	7: 103,767,470 (GRCm38)	M309T	probably benign	Het
Or52z13	C	T	7: 103,597,528 (GRCm38)	L71F	probably benign	Het
Or8b54	A	T	9: 38,775,495 (GRCm38)	K80I	probably damaging	Het
Or8g18	C	T	9: 39,237,681 (GRCm38)	V248I	probably benign	Het
Pak5	A	G	2: 136,116,305 (GRCm38)	S288P	probably damaging	Het
Pjvk	T	C	2: 76,657,465 (GRCm38)	F234L	probably benign	Het
Plekhm2	T	C	4: 141,631,347 (GRCm38)	N616D	probably benign	Het
Pnkp	C	T	7: 44,857,428 (GRCm38)	R9C	probably damaging	Het
Prom1	A	G	5: 44,055,930 (GRCm38)	C154R	probably damaging	Het
Rab3gap2	T	A	1: 185,282,382 (GRCm38)	W1243R	probably benign	Het
Rad17	C	T	13: 100,629,466 (GRCm38)	A385T	probably damaging	Het
Rasgrp1	T	C	2: 117,287,943 (GRCm38)	I522V	probably damaging	Het
Rnf213	T	C	11: 119,458,484 (GRCm38)	C3804R		Het
Ros1	T	A	10: 52,169,976 (GRCm38)	T153S	probably benign	Het
Sema4g	T	C	19: 44,997,571 (GRCm38)	S284P	probably damaging	Het
Septin9	C	T	11: 117,199,745 (GRCm38)		probably benign	Het
Slc2a9	T	C	5: 38,417,226 (GRCm38)	S236G	probably damaging	Het
Slc9c1	T	C	16: 45,577,893 (GRCm38)	F674L	probably benign	Het
Slfn5	A	T	11: 82,958,759 (GRCm38)	K361N	probably damaging	Het
Smad6	A	G	9: 64,021,770 (GRCm38)	L88S	unknown	Het
Smarca4	T	A	9: 21,639,075 (GRCm38)		probably null	Het
Smg7	A	T	1: 152,859,489 (GRCm38)	N198K	probably damaging	Het
Sorcs1	G	A	19: 50,152,796 (GRCm38)	Q1166*	probably null	Het
Stap1	A	G	5: 86,090,995 (GRCm38)	N212S	possibly damaging	Het
Tbx2	C	G	11: 85,833,312 (GRCm38)	A69G	possibly damaging	Het
Tmc1	C	A	19: 20,907,008 (GRCm38)	D23Y	probably damaging	Het
Tmf1	A	T	6: 97,158,494 (GRCm38)	D940E	probably benign	Het
Trim27	T	A	13: 21,180,600 (GRCm38)	C36S	probably damaging	Het
Unc80	G	A	1: 66,521,537 (GRCm38)	G808D	probably damaging	Het
Usp17ld	G	T	7: 103,250,887 (GRCm38)	Y279*	probably null	Het
Usp40	G	A	1: 87,986,072 (GRCm38)	A433V	probably benign	Het
Vmn1r49	G	A	6: 90,072,861 (GRCm38)	A53V	probably benign	Het
Vmn1r84	T	C	7: 12,361,860 (GRCm38)	N302S	probably benign	Het
Wfdc2	A	T	2: 164,565,821 (GRCm38)	I137L	probably benign	Het

Other mutations in Atp2c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Atp2c2	APN	8	119,745,590 (GRCm38)	missense	probably benign
IGL01624:Atp2c2	APN	8	119,757,450 (GRCm38)	missense	probably benign	0.00
IGL02133:Atp2c2	APN	8	119,754,335 (GRCm38)	missense	probably benign	0.00
IGL02221:Atp2c2	APN	8	119,744,334 (GRCm38)	missense	probably damaging	1.00
IGL02606:Atp2c2	APN	8	119,730,274 (GRCm38)	missense	probably benign
IGL02657:Atp2c2	APN	8	119,753,032 (GRCm38)	missense	probably damaging	1.00
IGL02839:Atp2c2	APN	8	119,749,120 (GRCm38)	missense	possibly damaging	0.85
IGL03122:Atp2c2	APN	8	119,742,675 (GRCm38)	missense	possibly damaging	0.77
R0031:Atp2c2	UTSW	8	119,749,062 (GRCm38)	missense	probably benign	0.15
R0372:Atp2c2	UTSW	8	119,757,441 (GRCm38)	missense	probably benign
R0502:Atp2c2	UTSW	8	119,734,577 (GRCm38)	missense	probably null	0.99
R0503:Atp2c2	UTSW	8	119,734,577 (GRCm38)	missense	probably null	0.99
R0584:Atp2c2	UTSW	8	119,738,418 (GRCm38)	missense	probably benign	0.01
R1225:Atp2c2	UTSW	8	119,735,245 (GRCm38)	missense	probably damaging	1.00
R1580:Atp2c2	UTSW	8	119,752,987 (GRCm38)	missense	probably benign	0.00
R1620:Atp2c2	UTSW	8	119,749,126 (GRCm38)	missense	probably benign
R1638:Atp2c2	UTSW	8	119,756,003 (GRCm38)	missense	possibly damaging	0.82
R1745:Atp2c2	UTSW	8	119,725,094 (GRCm38)	missense	probably benign	0.02
R1746:Atp2c2	UTSW	8	119,734,443 (GRCm38)	unclassified	probably benign
R1907:Atp2c2	UTSW	8	119,749,876 (GRCm38)	splice site	probably benign
R2104:Atp2c2	UTSW	8	119,749,845 (GRCm38)	missense	probably benign
R2151:Atp2c2	UTSW	8	119,756,102 (GRCm38)	missense	probably benign
R2152:Atp2c2	UTSW	8	119,756,102 (GRCm38)	missense	probably benign
R2154:Atp2c2	UTSW	8	119,756,102 (GRCm38)	missense	probably benign
R2207:Atp2c2	UTSW	8	119,748,309 (GRCm38)	missense	probably damaging	1.00
R3874:Atp2c2	UTSW	8	119,735,296 (GRCm38)	missense	possibly damaging	0.74
R3912:Atp2c2	UTSW	8	119,721,276 (GRCm38)	missense	probably damaging	1.00
R4093:Atp2c2	UTSW	8	119,749,871 (GRCm38)	critical splice donor site	probably null
R4782:Atp2c2	UTSW	8	119,749,152 (GRCm38)	missense	probably damaging	0.97
R4801:Atp2c2	UTSW	8	119,747,687 (GRCm38)	missense	probably damaging	1.00
R4973:Atp2c2	UTSW	8	119,754,263 (GRCm38)	missense	probably benign	0.00
R5485:Atp2c2	UTSW	8	119,753,062 (GRCm38)	critical splice donor site	probably null
R5978:Atp2c2	UTSW	8	119,749,875 (GRCm38)	splice site	probably null
R6377:Atp2c2	UTSW	8	119,726,354 (GRCm38)	missense	probably benign	0.10
R6613:Atp2c2	UTSW	8	119,756,021 (GRCm38)	missense	probably damaging	0.99
R6765:Atp2c2	UTSW	8	119,753,017 (GRCm38)	missense	probably damaging	1.00
R6836:Atp2c2	UTSW	8	119,734,415 (GRCm38)	missense	probably damaging	1.00
R6963:Atp2c2	UTSW	8	119,730,267 (GRCm38)	nonsense	probably null
R7220:Atp2c2	UTSW	8	119,745,561 (GRCm38)	missense	probably benign	0.00
R7238:Atp2c2	UTSW	8	119,742,421 (GRCm38)	missense	possibly damaging	0.73
R7373:Atp2c2	UTSW	8	119,730,252 (GRCm38)	missense	probably benign	0.02
R7438:Atp2c2	UTSW	8	119,748,197 (GRCm38)	missense	probably damaging	1.00
R7677:Atp2c2	UTSW	8	119,748,176 (GRCm38)	missense	probably benign	0.00
R7737:Atp2c2	UTSW	8	119,742,395 (GRCm38)	missense	probably damaging	1.00
R7912:Atp2c2	UTSW	8	119,730,178 (GRCm38)	missense	possibly damaging	0.81
R8821:Atp2c2	UTSW	8	119,749,294 (GRCm38)	splice site	probably null
R8831:Atp2c2	UTSW	8	119,749,294 (GRCm38)	splice site	probably null
R9200:Atp2c2	UTSW	8	119,748,260 (GRCm38)	nonsense	probably null
R9211:Atp2c2	UTSW	8	119,719,293 (GRCm38)	missense	probably benign
R9246:Atp2c2	UTSW	8	119,730,250 (GRCm38)	missense	probably damaging	1.00
R9285:Atp2c2	UTSW	8	119,738,402 (GRCm38)	missense	probably benign	0.00
RF004:Atp2c2	UTSW	8	119,752,822 (GRCm38)	missense	probably damaging	1.00
RF012:Atp2c2	UTSW	8	119,745,514 (GRCm38)	missense	possibly damaging	0.91
Z1177:Atp2c2	UTSW	8	119,734,385 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACTGTGACTAGGCCAGTTAGC -3'
(R):5'- GCCACAGTGATATGTCTGGG -3'

Sequencing Primer
(F):5'- ATAGGTGGTCTGCTGCCC -3'
(R):5'- CCACAGTGATATGTCTGGGATGTAGC -3'

Posted On

2019-10-24