Mutagenetix > Incidental Mutation

Incidental Mutation 'R0193:Atp2a3'

23236

Institutional Source

Beutler Lab

Gene Symbol

Atp2a3

Ensembl Gene

ENSMUSG00000020788

Gene Name

ATPase, Ca++ transporting, ubiquitous

Synonyms

Serca3

MMRRC Submission

038452-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R0193 (G1)

Quality Score

212

Status

Validated (trace)

Chromosome

Chromosomal Location

72961169-72993044 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72972220 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 99 (V99L)

Ref Sequence

ENSEMBL: ENSMUSP00000104125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021142] [ENSMUST00000108484] [ENSMUST00000108485] [ENSMUST00000108486] [ENSMUST00000163326]

AlphaFold

Q64518

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021142
AA Change: V99L

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021142
Gene: ENSMUSG00000020788
AA Change: V99L

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	4.43e-12	SMART
Pfam:E1-E2_ATPase	92	340	3.1e-66	PFAM
Pfam:Hydrolase	345	715	5.2e-22	PFAM
Pfam:HAD	348	712	3e-19	PFAM
Pfam:Cation_ATPase	418	528	4.4e-23	PFAM
Pfam:Hydrolase_3	684	747	4.5e-8	PFAM
Pfam:Cation_ATPase_C	784	987	1.8e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108484
AA Change: V99L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000104124
Gene: ENSMUSG00000020788
AA Change: V99L

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	3.4e-16	SMART
Pfam:E1-E2_ATPase	93	341	8.9e-67	PFAM
Pfam:Hydrolase	345	697	8.1e-27	PFAM
Pfam:HAD	348	694	4.1e-14	PFAM
Pfam:Hydrolase_like2	418	528	2.1e-21	PFAM
Pfam:Hydrolase_3	666	729	2.6e-6	PFAM
transmembrane domain	742	764	N/A	INTRINSIC
Pfam:Cation_ATPase_C	766	969	4.2e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108485
AA Change: V99L

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104125
Gene: ENSMUSG00000020788
AA Change: V99L

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	4.43e-12	SMART
Pfam:E1-E2_ATPase	93	341	1.1e-68	PFAM
Pfam:Hydrolase	345	715	2.7e-33	PFAM
Pfam:HAD	348	712	1.3e-17	PFAM
Pfam:Hydrolase_like2	418	528	2.2e-23	PFAM
Pfam:Hydrolase_3	684	747	1.8e-8	PFAM
Pfam:Cation_ATPase_C	784	987	2.6e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108486
AA Change: V99L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104126
Gene: ENSMUSG00000020788
AA Change: V99L

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	4.43e-12	SMART
Pfam:E1-E2_ATPase	93	341	1.4e-68	PFAM
Pfam:Hydrolase	345	697	2.8e-28	PFAM
Pfam:HAD	348	694	1.1e-15	PFAM
Pfam:Hydrolase_like2	418	528	1.7e-23	PFAM
Pfam:Hydrolase_3	666	729	5.1e-8	PFAM
Pfam:Cation_ATPase_C	766	969	2.5e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149493

Predicted Effect

probably benign
Transcript: ENSMUST00000163326
AA Change: V99L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000127036
Gene: ENSMUSG00000020788
AA Change: V99L

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	4.43e-12	SMART
Pfam:E1-E2_ATPase	93	341	1.4e-68	PFAM
Pfam:Hydrolase	345	715	6.5e-33	PFAM
Pfam:HAD	348	712	2.5e-17	PFAM
Pfam:Hydrolase_like2	418	528	1.7e-23	PFAM
Pfam:Hydrolase_3	684	747	5.1e-8	PFAM
Pfam:Cation_ATPase_C	784	987	2.5e-48	PFAM

Meta Mutation Damage Score

0.1734

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.7%
20x: 85.3%

Validation Efficiency

95% (186/196)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced endothelial-dependent relaxation in the aorta. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	T	5: 9,422,359	Q352L	probably damaging	Het
Adgrb1	T	C	15: 74,572,156	S96P	probably damaging	Het
Akr1c20	A	G	13: 4,511,293		probably benign	Het
Atp6v0a1	T	A	11: 101,048,482	I691N	possibly damaging	Het
Atp8b1	C	T	18: 64,561,636	R525Q	probably benign	Het
Aurkb	A	G	11: 69,048,544	D151G	probably damaging	Het
Bank1	A	T	3: 136,066,518		probably benign	Het
Bcl9l	T	C	9: 44,507,406	L847P	probably damaging	Het
Bscl2	T	A	19: 8,847,429	M292K	probably benign	Het
Cacna1c	C	T	6: 118,602,402		probably benign	Het
Cadps2	T	C	6: 23,599,440	K260R	probably benign	Het
Cc2d2a	T	C	5: 43,736,118	S1419P	probably damaging	Het
Ccdc180	G	A	4: 45,914,803	E145K	probably benign	Het
Ccdc58	T	C	16: 36,082,814	S59P	probably damaging	Het
Ccno	C	T	13: 112,988,884		probably benign	Het
Cd300a	A	G	11: 114,893,376	D70G	probably benign	Het
Cenpc1	T	C	5: 86,032,403	D670G	probably benign	Het
Cenpl	A	G	1: 161,085,988	I323V	probably damaging	Het
Cfap44	A	G	16: 44,449,210		probably null	Het
Cfap74	C	T	4: 155,426,115	R386C	probably benign	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Clcnkb	T	C	4: 141,412,316	E125G	possibly damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Coro7	G	A	16: 4,627,504		probably benign	Het
Dchs1	C	T	7: 105,764,983	R875H	probably benign	Het
Eif3j1	A	C	2: 122,052,027	M239L	probably benign	Het
Eif4g3	G	T	4: 138,146,376		probably benign	Het
Erbb4	T	C	1: 68,043,960		probably benign	Het
Erlin2	T	G	8: 27,031,764	V164G	possibly damaging	Het
Fbxo43	G	T	15: 36,161,883	Q393K	probably benign	Het
Fcgr4	A	T	1: 171,025,760	N178I	possibly damaging	Het
Grid2	A	G	6: 64,063,953	N293S	possibly damaging	Het
H2-M1	C	T	17: 36,671,332	V126I	probably benign	Het
Htr1f	T	A	16: 64,926,749	Y60F	probably damaging	Het
Ilf2	A	G	3: 90,481,339		probably null	Het
Impg2	A	T	16: 56,265,049	K931*	probably null	Het
Ints1	T	C	5: 139,751,730	E2176G	probably damaging	Het
Iqsec2	T	C	X: 152,223,403	V1319A	probably benign	Het
Iqsec3	G	T	6: 121,410,724	D685E	probably damaging	Het
Itgbl1	G	A	14: 123,846,546	V279I	probably benign	Het
Kdm4b	C	T	17: 56,393,952	A541V	probably benign	Het
Kif14	A	T	1: 136,468,438	T161S	probably benign	Het
Krt86	T	C	15: 101,479,363		probably benign	Het
Kyat1	C	T	2: 30,187,186		probably null	Het
Limch1	T	C	5: 67,027,539	W791R	probably damaging	Het
Map3k11	T	A	19: 5,695,846	M396K	probably damaging	Het
Mat2a	A	G	6: 72,436,195		probably null	Het
Mbnl2	A	G	14: 120,379,237	I88V	possibly damaging	Het
Mib2	T	C	4: 155,655,673	T708A	probably benign	Het
Mkks	T	C	2: 136,877,606		probably null	Het
Mtss1	T	C	15: 58,944,017	M565V	probably damaging	Het
Myoc	A	G	1: 162,649,035	N436S	probably damaging	Het
Myod1	T	A	7: 46,377,112	V147E	probably damaging	Het
Ngef	A	G	1: 87,509,334	L144P	probably benign	Het
Ngrn	C	T	7: 80,261,930	R92W	probably damaging	Het
Nup153	G	A	13: 46,709,654	T349I	probably benign	Het
Olfr1211	T	A	2: 88,930,283	I11L	probably benign	Het
Olfr600	G	T	7: 103,346,204	S241R	possibly damaging	Het
Pigl	A	G	11: 62,503,748	I135M	probably damaging	Het
Pitpnm3	A	G	11: 72,070,492		probably benign	Het
Pkhd1	A	T	1: 20,358,917	F2420I	probably damaging	Het
Polr2b	C	T	5: 77,320,076	T119M	probably damaging	Het
Prr29	A	G	11: 106,376,896	Y130C	probably damaging	Het
Rab11fip3	T	C	17: 25,990,999	I1048V	probably damaging	Het
Rab12	G	A	17: 66,500,362	T124I	probably damaging	Het
Rab44	A	G	17: 29,140,307	S490G	probably benign	Het
Rasa3	A	G	8: 13,570,233		probably null	Het
Rhbdl3	C	T	11: 80,353,574	S369L	possibly damaging	Het
Rimbp2	A	T	5: 128,788,356	S643T	probably benign	Het
Rin1	T	G	19: 5,052,652	S396R	probably damaging	Het
Rpusd3	C	T	6: 113,419,237	G28S	probably damaging	Het
Rtl9	T	A	X: 143,100,278	S229T	probably damaging	Het
Rufy1	G	T	11: 50,389,852	T701N	probably benign	Het
Scn4a	A	T	11: 106,320,538	L1551*	probably null	Het
Sec24b	T	C	3: 129,988,984	N1119S	probably null	Het
Serbp1	T	A	6: 67,272,884	*75R	probably null	Het
Setx	C	T	2: 29,179,673	P2497S	probably benign	Het
Slc26a11	A	T	11: 119,359,314	I132F	probably damaging	Het
Slc4a1	A	G	11: 102,352,684	V707A	possibly damaging	Het
Slfn1	A	G	11: 83,121,843	I262V	probably damaging	Het
Tmem168	T	A	6: 13,583,313	D523V	possibly damaging	Het
Traf7	G	T	17: 24,510,551	Q469K	probably benign	Het
Trdmt1	C	A	2: 13,544,617	V6F	probably damaging	Het
Tsacc	A	T	3: 88,287,088		probably benign	Het
Vmn2r5	A	G	3: 64,491,530	I589T	possibly damaging	Het
Vmn2r7	T	C	3: 64,691,039	D699G	probably damaging	Het
Vmn2r82	T	C	10: 79,381,295	V487A	probably damaging	Het
Zfp287	A	T	11: 62,715,029	S351T	probably benign	Het
Zfp651	T	C	9: 121,767,666	V696A	probably damaging	Het
Zfp654	T	C	16: 64,785,688	H176R	possibly damaging	Het

Other mutations in Atp2a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Atp2a3	APN	11	72982787	missense	probably damaging	0.98
IGL01141:Atp2a3	APN	11	72982665	missense	probably damaging	1.00
IGL01949:Atp2a3	APN	11	72981897	missense	probably damaging	1.00
IGL02267:Atp2a3	APN	11	72987984	missense	probably damaging	1.00
IGL02385:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02390:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02391:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02392:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02487:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02525:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02526:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02527:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02581:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02643:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02644:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02646:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02647:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02649:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02650:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02651:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02667:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02668:Atp2a3	APN	11	72975339	missense	probably benign	0.00
IGL02819:Atp2a3	APN	11	72977207	missense	probably damaging	1.00
IGL02888:Atp2a3	APN	11	72977128	splice site	probably benign
Aplomb	UTSW	11	72980448	missense	probably damaging	1.00
flair	UTSW	11	72975397	missense	probably damaging	1.00
panache	UTSW	11	72981939	missense	probably damaging	1.00
R0357:Atp2a3	UTSW	11	72970931	critical splice donor site	probably null
R0376:Atp2a3	UTSW	11	72982702	missense	probably damaging	1.00
R0452:Atp2a3	UTSW	11	72977232	splice site	probably null
R0494:Atp2a3	UTSW	11	72981905	missense	probably damaging	1.00
R0588:Atp2a3	UTSW	11	72973024	missense	possibly damaging	0.79
R0674:Atp2a3	UTSW	11	72981885	missense	probably damaging	1.00
R1586:Atp2a3	UTSW	11	72991744	missense	probably damaging	0.98
R1666:Atp2a3	UTSW	11	72978807	critical splice donor site	probably null
R1994:Atp2a3	UTSW	11	72975414	missense	probably damaging	0.99
R2087:Atp2a3	UTSW	11	72980448	missense	probably damaging	1.00
R4675:Atp2a3	UTSW	11	72981797	missense	probably damaging	1.00
R4795:Atp2a3	UTSW	11	72973029	missense	probably benign	0.01
R4898:Atp2a3	UTSW	11	72982680	missense	probably damaging	1.00
R5083:Atp2a3	UTSW	11	72982826	missense	probably null	0.49
R5174:Atp2a3	UTSW	11	72980215	missense	probably damaging	1.00
R5266:Atp2a3	UTSW	11	72975397	missense	probably damaging	1.00
R5304:Atp2a3	UTSW	11	72988557	missense	probably damaging	0.98
R5802:Atp2a3	UTSW	11	72972882	missense	probably damaging	1.00
R6107:Atp2a3	UTSW	11	72988461	critical splice acceptor site	probably null
R6157:Atp2a3	UTSW	11	72980616	missense	probably damaging	1.00
R6760:Atp2a3	UTSW	11	72982740	missense	probably damaging	1.00
R7406:Atp2a3	UTSW	11	72978750	missense	probably damaging	1.00
R8818:Atp2a3	UTSW	11	72981939	missense	probably damaging	1.00
R9376:Atp2a3	UTSW	11	72972464	missense	probably damaging	1.00
R9456:Atp2a3	UTSW	11	72980305	missense	probably benign	0.07
R9562:Atp2a3	UTSW	11	72982752	missense	probably damaging	1.00
R9608:Atp2a3	UTSW	11	72989040	missense	probably benign	0.40
Z1176:Atp2a3	UTSW	11	72980622	missense	possibly damaging	0.96
Z1176:Atp2a3	UTSW	11	72989540	missense	probably benign
Z1177:Atp2a3	UTSW	11	72980327	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GACTAAAAGTCAAGGGGCTCACTCG -3'
(R):5'- AGAAGGACTTGGACATACCCACCTG -3'

Sequencing Primer
(F):5'- CACAGTTGGACTAACAGCTCTGA -3'
(R):5'- GGTCAGACCGGATCACCTTAC -3'

Posted On

2013-04-16