Mutagenetix > Incidental Mutation

Incidental Mutation 'R9200:Atp2c2'

698177

Institutional Source

Beutler Lab

Gene Symbol

Atp2c2

Ensembl Gene

ENSMUSG00000034112

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9200 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119700009-119757717 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 119748260 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 535 (K535*)

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

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

AlphaFold

A7L9Z8

Predicted Effect

probably null
Transcript: ENSMUST00000095171
AA Change: K535*

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: K535*

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	C	16: 8,856,034	L275P	possibly damaging	Het
Acsm2	C	A	7: 119,580,616	Y352*	probably null	Het
Adh7	C	T	3: 138,221,806	R38C	probably benign	Het
Ankrd2	A	T	19: 42,040,432	T145S		Het
Anpep	T	C	7: 79,841,122	N241D	probably benign	Het
Apaf1	G	A	10: 91,009,240	L990F	probably benign	Het
Arsi	A	G	18: 60,916,764	T240A	possibly damaging	Het
Ascc3	A	G	10: 50,645,691	E434G	possibly damaging	Het
B3galt4	A	G	17: 33,951,410		probably benign	Het
Brwd1	C	G	16: 96,037,954	C839S	probably benign	Het
Cars	C	T	7: 143,575,917		probably null	Het
Catsperd	T	A	17: 56,628,229	V14D	unknown	Het
Ccdc150	A	C	1: 54,260,038	T58P	probably damaging	Het
Cdon	A	G	9: 35,503,321	D1164G	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Cic	A	C	7: 25,272,515	D557A	probably damaging	Het
Clip4	G	A	17: 71,810,889	G310R	probably damaging	Het
Dach1	G	T	14: 97,828,307	R695S	probably damaging	Het
Ddc	T	C	11: 11,815,388	N428S	possibly damaging	Het
Dnah6	G	A	6: 73,027,514	T3822I	probably benign	Het
Dnmt1	T	A	9: 20,908,600	M1535L	probably benign	Het
Edc4	T	C	8: 105,890,419		probably null	Het
Emilin2	A	G	17: 71,274,234	I499T	possibly damaging	Het
Etl4	A	G	2: 20,781,891	D766G	probably damaging	Het
Fes	T	C	7: 80,382,392	Q414R	probably benign	Het
Fhod1	A	G	8: 105,331,440	V844A	probably benign	Het
Fshr	A	T	17: 89,046,675	V85E	probably benign	Het
Gc	T	C	5: 89,445,377	N61S	probably benign	Het
Gm13089	G	A	4: 143,697,286	P311L	possibly damaging	Het
Gm28710	T	C	5: 16,801,661		probably null	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Itga1	A	T	13: 114,968,461	I1059N	possibly damaging	Het
Itpr3	T	A	17: 27,107,662	V1426E	probably damaging	Het
Jag1	T	A	2: 137,087,124	Y804F	probably benign	Het
Lama3	A	G	18: 12,472,240	T1084A	probably benign	Het
Mdn1	A	G	4: 32,760,791	D4952G	probably benign	Het
Mmrn1	A	G	6: 60,976,876	T714A	probably damaging	Het
Nab1	T	A	1: 52,490,366	H124L	possibly damaging	Het
Nacc2	A	G	2: 26,090,106	F106S	probably damaging	Het
Nbeal1	T	C	1: 60,281,266	I2006T	probably damaging	Het
Nkpd1	C	A	7: 19,523,758	H487Q	probably benign	Het
Nop2	G	A	6: 125,140,880		probably null	Het
Olfr1116	T	A	2: 87,269,711	M310K	probably benign	Het
Olfr1489	A	G	19: 13,633,231	N40S	probably damaging	Het
Otud6b	A	T	4: 14,811,712	Y310*	probably null	Het
Phyh	A	T	2: 4,927,436	Y111F	probably benign	Het
Pon3	A	G	6: 5,240,863	L106P	probably benign	Het
Ppp6r3	T	C	19: 3,469,748	D615G	probably damaging	Het
Prdm10	G	A	9: 31,357,142	V796I	probably damaging	Het
Prkdc	G	T	16: 15,705,289	V1192F	probably damaging	Het
R3hdm2	T	G	10: 127,457,652	S142A	probably damaging	Het
Rab39	T	C	9: 53,686,365	N200S	probably benign	Het
Rcc2	A	G	4: 140,718,353	I441V	probably benign	Het
Rxra	G	A	2: 27,737,484	V72I	possibly damaging	Het
Ryr1	T	G	7: 29,095,099	Q1252P	probably benign	Het
Sectm1a	T	C	11: 121,069,647	Y114C	probably damaging	Het
Smim1	T	C	4: 154,023,819		probably null	Het
Smpd2	C	T	10: 41,487,565	D301N	probably benign	Het
Smyd3	T	C	1: 179,405,398	D139G	probably benign	Het
Sox13	C	T	1: 133,386,005	C399Y	probably damaging	Het
Tarsl2	A	G	7: 65,652,265	E179G	probably benign	Het
Tas2r138	A	G	6: 40,612,560	F251L	probably damaging	Het
Tesk1	A	G	4: 43,447,307	E565G	probably damaging	Het
Tm2d1	A	T	4: 98,357,963	F201I	possibly damaging	Het
Tom1l2	C	A	11: 60,230,116	D501Y	probably benign	Het
Trim39	G	T	17: 36,268,775	T96K	probably benign	Het
Ubash3a	A	G	17: 31,217,997	H196R	probably damaging	Het
Unc13b	A	G	4: 43,257,352	E1206G	possibly damaging	Het
Usp17lc	A	T	7: 103,418,898	T467S	probably benign	Het
Vmn1r128	T	C	7: 21,349,391	S7P	possibly damaging	Het
Vmn1r185	T	A	7: 26,611,648	H144L	possibly damaging	Het
Wfdc6b	A	T	2: 164,613,788	R12S	possibly damaging	Het
Zmynd8	A	T	2: 165,840,085	D175E	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
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
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'- AAAGTCCAGGTGTAGACCCG -3'
(R):5'- ACTAGACGGTCCATCCTGAC -3'

Sequencing Primer
(F):5'- CTCTAGTATGAGGCAGCTGTC -3'
(R):5'- GGTCCATCCTGACTGTGAAG -3'

Posted On

2022-02-07