Mutagenetix > Incidental Mutation

Incidental Mutation 'R6377:Atp2c2'

515057

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 #

R6377 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119700009-119757717 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119726354 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 159 (E159G)

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

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

AlphaFold

A7L9Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000095171
AA Change: E159G

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: E159G

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

Meta Mutation Damage Score

0.1909

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

94% (59/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankib1	A	G	5: 3,693,855	S812P	possibly damaging	Het
Atrn	A	G	2: 130,979,969	I861V	probably damaging	Het
AW822073	T	C	10: 58,223,672		probably benign	Het
Clip1	A	G	5: 123,603,654	V1053A	possibly damaging	Het
Cngb1	C	A	8: 95,248,980	G629C	probably damaging	Het
Cntn5	A	T	9: 9,743,652	F540Y	probably damaging	Het
Cpb1	A	C	3: 20,275,584		probably null	Het
Cyp4a14	A	G	4: 115,496,083	Y11H	probably benign	Het
Dact2	A	G	17: 14,199,188	S103P	probably damaging	Het
Dcstamp	A	T	15: 39,754,921	Y242F	probably benign	Het
Drd3	G	T	16: 43,821,307	G329*	probably null	Het
Dysf	T	A	6: 84,008,963	S17T	probably benign	Het
Eno1	A	T	4: 150,248,552	K366N	possibly damaging	Het
Ffar2	C	T	7: 30,819,546	V190I	probably benign	Het
Fkbp15	T	C	4: 62,324,192	T508A	probably damaging	Het
Fndc1	A	G	17: 7,769,735	V1165A	unknown	Het
Foxj3	A	T	4: 119,573,748		probably null	Het
Gabarap	T	C	11: 69,991,804		probably null	Het
Gm14025	T	A	2: 129,036,811	D1065V	unknown	Het
Gm19410	T	A	8: 35,803,582	L1221*	probably null	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Igf1r	A	T	7: 68,201,250	Y931F	probably benign	Het
Il23r	A	T	6: 67,423,652	S565T	probably damaging	Het
Ipo8	A	T	6: 148,816,497	Y209*	probably null	Het
Jph2	C	T	2: 163,339,712	G511R	probably benign	Het
Khdrbs1	C	A	4: 129,742,097	D22Y	probably damaging	Het
Kif5b	A	T	18: 6,212,562	L754Q	probably damaging	Het
Ksr1	C	T	11: 79,036,494		probably null	Het
L3mbtl4	G	T	17: 68,777,923	V610F	probably benign	Het
Lars2	A	G	9: 123,454,760	T698A	probably benign	Het
Lonp1	A	G	17: 56,621,961	V267A	possibly damaging	Het
Loxhd1	T	A	18: 77,380,432	D925E	probably damaging	Het
Lsg1	A	G	16: 30,574,568	L187P	possibly damaging	Het
Mki67	A	T	7: 135,696,321	V2328E	possibly damaging	Het
Mlh3	A	G	12: 85,268,497	I305T	probably damaging	Het
Mtbp	A	G	15: 55,557,620	M1V	probably null	Het
Myadml2	C	A	11: 120,647,712	C99F	probably benign	Het
Ncbp1	A	G	4: 46,150,703	Y185C	probably damaging	Het
Ndufaf7	A	T	17: 78,943,310	Q222L	probably null	Het
Nlrp4b	A	T	7: 10,715,412	Y147F	probably benign	Het
Olfr1205	C	T	2: 88,831,269	R51*	probably null	Het
Pet100	T	C	8: 3,622,370	V15A	probably benign	Het
Pot1a	A	G	6: 25,778,870	V75A	probably benign	Het
Ptprs	A	T	17: 56,418,935	M1043K	probably damaging	Het
Rnf31	A	G	14: 55,595,527	T413A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Rubcnl	A	T	14: 75,050,195		probably null	Het
Ryr3	A	T	2: 112,632,185	C4839S	probably damaging	Het
Scai	A	C	2: 39,102,328	D379E	probably benign	Het
Scd2	G	T	19: 44,299,759	G197*	probably null	Het
Sdr39u1	A	C	14: 55,897,709	I259S	probably benign	Het
Slco1a5	A	T	6: 142,242,180		probably null	Het
Sp1	A	T	15: 102,430,883	T733S	probably benign	Het
Tecta	A	G	9: 42,343,755	S1711P	probably damaging	Het
Tedc1	G	T	12: 113,161,355	W240L	probably damaging	Het
Trim50	A	G	5: 135,353,600	K102R	probably benign	Het
Tusc5	T	C	11: 76,680,529	S124P	probably damaging	Het
Utrn	A	G	10: 12,744,083	Y278H	probably damaging	Het
Vmn2r109	A	C	17: 20,564,534		probably null	Het
Zbed5	T	C	5: 129,903,369	S720P	possibly damaging	Het
Zc3h3	A	G	15: 75,839,455	S386P	probably damaging	Het
Zscan4-ps1	C	T	7: 11,068,491		probably null	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
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'- TAAGTAGGGCTCACATCCCC -3'
(R):5'- AAGACTGCTCTCCCCATGTC -3'

Sequencing Primer
(F):5'- TGGCACCCTGTCTTCCAG -3'
(R):5'- TCCCCATGTCACACCATGAAGG -3'

Posted On

2018-05-04