Mutagenetix > Incidental Mutations

Incidental Mutation 'R1954:Atp2b4'

217530

Institutional Source

Beutler Lab

Gene Symbol

Atp2b4

Ensembl Gene

ENSMUSG00000026463

Gene Name

ATPase, Ca++ transporting, plasma membrane 4

Synonyms

PMCA4

MMRRC Submission

039968-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.464) question?

Stock #

R1954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133699457-133801041 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133739992 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 105 (T105S)

Ref Sequence

ENSEMBL: ENSMUSP00000133187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048953] [ENSMUST00000112264] [ENSMUST00000125659] [ENSMUST00000143567] [ENSMUST00000165602]

Predicted Effect

probably damaging
Transcript: ENSMUST00000048953
AA Change: T105S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047978
Gene: ENSMUSG00000026463
AA Change: T105S

Domain	Start	End	E-Value	Type
Cation_ATPase_N	45	121	1.81e-8	SMART
low complexity region	140	152	N/A	INTRINSIC
Pfam:E1-E2_ATPase	154	456	1.7e-58	PFAM
Pfam:Hydrolase	460	798	3e-26	PFAM
Pfam:HAD	463	795	7.4e-15	PFAM
Pfam:Hydrolase_like2	510	605	3.6e-17	PFAM
Pfam:Hydrolase_3	756	831	2.7e-6	PFAM
Pfam:Cation_ATPase_C	868	1050	1.1e-43	PFAM
Pfam:ATP_Ca_trans_C	1090	1153	1.8e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112264
AA Change: T105S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107883
Gene: ENSMUSG00000026463
AA Change: T105S

Domain	Start	End	E-Value	Type
Cation_ATPase_N	45	121	1.81e-8	SMART
low complexity region	140	152	N/A	INTRINSIC
Pfam:E1-E2_ATPase	154	456	1.3e-58	PFAM
Pfam:Hydrolase	460	798	1.2e-26	PFAM
Pfam:HAD	463	795	3.5e-15	PFAM
Pfam:Hydrolase_like2	510	605	4.6e-17	PFAM
Pfam:Hydrolase_3	756	831	9.1e-7	PFAM
Pfam:Cation_ATPase_C	868	1050	1.1e-43	PFAM
Pfam:ATP_Ca_trans_C	1090	1104	7.4e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125659
AA Change: T105S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116941
Gene: ENSMUSG00000026463
AA Change: T105S

Domain	Start	End	E-Value	Type
Cation_ATPase_N	45	121	1.81e-8	SMART
low complexity region	140	152	N/A	INTRINSIC
Pfam:E1-E2_ATPase	154	456	1.7e-58	PFAM
Pfam:Hydrolase	460	798	3e-26	PFAM
Pfam:HAD	463	795	7.4e-15	PFAM
Pfam:Hydrolase_like2	510	605	3.6e-17	PFAM
Pfam:Hydrolase_3	756	831	2.7e-6	PFAM
Pfam:Cation_ATPase_C	868	1050	1.1e-43	PFAM
Pfam:ATP_Ca_trans_C	1090	1153	1.8e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000143567
AA Change: T105S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119242
Gene: ENSMUSG00000026463
AA Change: T105S

Domain	Start	End	E-Value	Type
Cation_ATPase_N	45	121	1.81e-8	SMART
low complexity region	140	152	N/A	INTRINSIC
Pfam:E1-E2_ATPase	153	301	6.8e-29	PFAM
Pfam:E1-E2_ATPase	338	455	1.9e-13	PFAM
Pfam:HAD	463	795	1e-21	PFAM
Pfam:Cation_ATPase	509	605	5.8e-17	PFAM
Pfam:Hydrolase	577	798	5e-15	PFAM
Pfam:Hydrolase_3	756	831	6.6e-7	PFAM
Pfam:Cation_ATPase_C	868	1050	4.5e-45	PFAM
Pfam:ATP_Ca_trans_C	1090	1141	3.4e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000165602
AA Change: T105S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133187
Gene: ENSMUSG00000026463
AA Change: T105S

Domain	Start	End	E-Value	Type
Cation_ATPase_N	45	121	1.81e-8	SMART
low complexity region	140	152	N/A	INTRINSIC
Pfam:E1-E2_ATPase	154	456	1.5e-58	PFAM
Pfam:Hydrolase	460	798	1.4e-26	PFAM
Pfam:HAD	463	795	4.1e-15	PFAM
Pfam:Hydrolase_like2	510	605	5.1e-17	PFAM
Pfam:Hydrolase_3	756	831	1e-6	PFAM
Pfam:Cation_ATPase_C	868	1050	1.3e-43	PFAM
Pfam:ATP_Ca_trans_C	1090	1151	4.8e-26	PFAM

Meta Mutation Damage Score

0.6259

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (101/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male infertility with impaired sperm motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	T	5: 98,566,753		probably benign	Het
Adamts15	T	A	9: 30,910,708	M478L	probably benign	Het
Akap8l	T	A	17: 32,336,736	Y123F	possibly damaging	Het
Anapc4	T	G	5: 52,846,625		probably benign	Het
Arap3	A	G	18: 37,982,002	V987A	probably damaging	Het
Atp6v0d1	A	G	8: 105,565,893	L7P	probably damaging	Het
Atp6v1b2	T	C	8: 69,105,903	V341A	possibly damaging	Het
Baz2b	C	A	2: 59,968,743	A346S	probably benign	Het
Brpf3	G	A	17: 28,806,559	S202N	probably benign	Het
Btnl4	T	C	17: 34,472,930	K233E	possibly damaging	Het
Capn7	A	G	14: 31,360,150	T438A	probably damaging	Het
Cars2	A	T	8: 11,550,286	Y68N	probably damaging	Het
Cbx2	G	T	11: 119,028,340	G244W	probably damaging	Het
Ccr4	A	T	9: 114,492,685	V104D	probably damaging	Het
Cdc5l	T	C	17: 45,426,516		probably null	Het
Cep170	A	T	1: 176,756,384	C810S	probably benign	Het
Clp1	T	C	2: 84,724,051	D258G	probably damaging	Het
Clstn3	T	C	6: 124,459,298	E164G	possibly damaging	Het
Col28a1	T	C	6: 7,998,516	E1131G	probably damaging	Het
Cps1	A	G	1: 67,195,196	D914G	possibly damaging	Het
Ctnnal1	C	T	4: 56,817,242		probably benign	Het
Cyp2c38	A	G	19: 39,404,687	L312P	probably damaging	Het
Cytip	T	C	2: 58,148,253	N99D	possibly damaging	Het
Dennd4a	A	T	9: 64,852,467	T285S	probably benign	Het
Dhx8	A	G	11: 101,753,279	S842G	probably damaging	Het
Disp1	A	T	1: 183,088,543	M771K	probably damaging	Het
Dnah17	A	G	11: 118,024,731	I4326T	probably damaging	Het
Efcab7	T	C	4: 99,900,690	F345L	probably damaging	Het
Erc1	G	T	6: 119,797,305	Q230K	probably damaging	Het
Ern1	A	T	11: 106,421,974		probably benign	Het
Espl1	T	C	15: 102,298,388	Y96H	probably damaging	Het
Fam135a	A	T	1: 24,029,602	L533I	probably damaging	Het
Fat2	G	A	11: 55,311,084	T388I	probably benign	Het
Galnt1	T	G	18: 24,271,774		probably benign	Het
Glmn	A	G	5: 107,572,377	F212S	probably damaging	Het
Gm3604	A	T	13: 62,369,211	N444K	probably damaging	Het
Gm5434	A	G	12: 36,090,596		probably benign	Het
Gm8989	A	C	7: 106,329,681	D336E	probably damaging	Het
H2-M10.3	T	C	17: 36,367,498	D145G	probably damaging	Het
Hic2	T	A	16: 17,258,993	L562Q	probably damaging	Het
Hip1r	G	T	5: 124,001,844	E1003D	probably damaging	Het
Hist1h1c	T	C	13: 23,739,402	V185A	unknown	Het
Hist1h1d	A	G	13: 23,555,516		probably benign	Het
Hsfy2	C	T	1: 56,637,183	C65Y	probably benign	Het
Inpp1	T	C	1: 52,794,629	T103A	probably damaging	Het
Ints5	T	C	19: 8,894,896	V73A	probably damaging	Het
Iqch	A	T	9: 63,548,016	D166E	probably benign	Het
Klhdc3	A	T	17: 46,677,975	N96K	probably damaging	Het
Klk1b8	C	T	7: 43,953,848		probably benign	Het
Klrb1	T	C	6: 128,723,073		probably null	Het
Krt71	C	A	15: 101,735,466	G446*	probably null	Het
Lars	G	A	18: 42,210,050	R1101C	probably damaging	Het
Lemd3	G	T	10: 120,978,940	S129R	probably damaging	Het
Lrp1b	A	G	2: 40,858,441	L3015P	probably damaging	Het
Mdga2	T	C	12: 66,486,708		probably benign	Het
Mlst8	A	T	17: 24,477,221	I178N	probably damaging	Het
Mon2	A	T	10: 123,038,483	I320N	probably damaging	Het
Morc2b	T	C	17: 33,137,490	Y436C	probably damaging	Het
Moxd1	T	A	10: 24,279,883	M295K	probably benign	Het
Mrps5	T	A	2: 127,596,897		probably null	Het
Mtor	C	A	4: 148,468,273	S744R	probably damaging	Het
Myo3a	T	A	2: 22,241,226	D61E	probably damaging	Het
Nars	C	T	18: 64,500,564	R545Q	probably damaging	Het
Ncoa6	A	G	2: 155,406,821	V1521A	possibly damaging	Het
Ndor1	T	C	2: 25,255,293	E20G	possibly damaging	Het
Nipsnap3b	T	C	4: 53,017,213		probably benign	Het
Notch3	G	T	17: 32,166,678	A39E	probably benign	Het
Olfr1336	G	T	7: 6,461,145	W212L	probably benign	Het
Olfr237-ps1	T	C	6: 43,153,977	I224T	possibly damaging	Het
Olfr345	A	G	2: 36,640,215	M59V	possibly damaging	Het
Otud3	T	C	4: 138,898,032	K237R	possibly damaging	Het
Papola	T	A	12: 105,828,273		probably null	Het
Parl	T	A	16: 20,302,327	M1L	possibly damaging	Het
Parp14	G	T	16: 35,858,301	N432K	probably benign	Het
Patz1	T	G	11: 3,291,088	S159A	probably damaging	Het
Prpf6	T	G	2: 181,632,077	M338R	probably benign	Het
Psd3	A	G	8: 67,697,075	L343P	probably damaging	Het
Ptpn23	A	T	9: 110,386,325	N1422K	probably damaging	Het
Rab19	A	T	6: 39,384,082	T55S	probably benign	Het
Sh3yl1	A	G	12: 30,922,333	K34E	possibly damaging	Het
Skint8	T	A	4: 111,950,081	F321L	possibly damaging	Het
Slc25a46	A	T	18: 31,600,241		probably null	Het
Slc26a3	T	C	12: 31,450,816	L184S	probably damaging	Het
Slc39a10	A	T	1: 46,835,174	S323T	possibly damaging	Het
Sorbs2	G	T	8: 45,745,738	R20L	probably benign	Het
Stk32a	A	T	18: 43,212,025	D13V	probably benign	Het
Tab2	T	C	10: 7,919,330	T463A	probably damaging	Het
Tenm2	T	A	11: 36,047,547	N1433I	possibly damaging	Het
Tmem200c	A	T	17: 68,840,961	I180F	probably damaging	Het
Tmem232	G	T	17: 65,484,487	H129N	probably benign	Het
Tmem242	T	C	17: 5,439,579	T47A	possibly damaging	Het
Ube2d1	A	T	10: 71,285,123	M1K	probably null	Het
Uckl1	T	C	2: 181,570,527	Q332R	probably benign	Het
Unc5b	T	C	10: 60,769,265		probably benign	Het
Vmn2r114	T	C	17: 23,311,112	Y107C	probably benign	Het
Vmn2r82	A	T	10: 79,396,056	S630C	probably damaging	Het
Wdr25	T	A	12: 108,898,541	V204E	probably damaging	Het
Xab2	T	A	8: 3,616,094	D227V	probably damaging	Het
Zfp286	A	G	11: 62,783,708	S104P	possibly damaging	Het
Zfp345	T	C	2: 150,474,821	D22G	probably damaging	Het

Other mutations in Atp2b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02387:Atp2b4	APN	1	133731889	missense	probably damaging	1.00
IGL02887:Atp2b4	APN	1	133728774	missense	probably damaging	1.00
IGL02964:Atp2b4	APN	1	133730565	missense	probably damaging	1.00
IGL03116:Atp2b4	APN	1	133728768	missense	possibly damaging	0.95
IGL03227:Atp2b4	APN	1	133729707	splice site	probably benign
R0018:Atp2b4	UTSW	1	133717871	missense	probably damaging	1.00
R0018:Atp2b4	UTSW	1	133717871	missense	probably damaging	1.00
R0279:Atp2b4	UTSW	1	133729702	splice site	probably benign
R0455:Atp2b4	UTSW	1	133728716	missense	probably damaging	1.00
R0511:Atp2b4	UTSW	1	133732218	splice site	probably benign
R0712:Atp2b4	UTSW	1	133730478	missense	probably damaging	1.00
R1469:Atp2b4	UTSW	1	133706939	missense	probably damaging	0.97
R1469:Atp2b4	UTSW	1	133706939	missense	probably damaging	0.97
R1529:Atp2b4	UTSW	1	133717988	missense	probably damaging	1.00
R1771:Atp2b4	UTSW	1	133732393	missense	probably damaging	0.96
R2054:Atp2b4	UTSW	1	133715169	missense	probably benign	0.03
R2056:Atp2b4	UTSW	1	133726537	missense	probably benign	0.36
R2059:Atp2b4	UTSW	1	133726537	missense	probably benign	0.36
R2091:Atp2b4	UTSW	1	133715230	missense	probably benign	0.00
R2263:Atp2b4	UTSW	1	133726533	missense	probably benign	0.35
R3907:Atp2b4	UTSW	1	133738586	missense	probably damaging	1.00
R4362:Atp2b4	UTSW	1	133739931	missense	possibly damaging	0.94
R4756:Atp2b4	UTSW	1	133711791	missense	probably benign	0.00
R4756:Atp2b4	UTSW	1	133739396	missense	probably benign	0.41
R4856:Atp2b4	UTSW	1	133706780	missense	probably benign	0.00
R4886:Atp2b4	UTSW	1	133706780	missense	probably benign	0.00
R5177:Atp2b4	UTSW	1	133728768	missense	probably benign	0.00
R5454:Atp2b4	UTSW	1	133729872	missense	probably damaging	1.00
R5594:Atp2b4	UTSW	1	133730510	missense	probably damaging	1.00
R5712:Atp2b4	UTSW	1	133730540	missense	probably damaging	1.00
R6034:Atp2b4	UTSW	1	133731907	critical splice acceptor site	probably null
R6034:Atp2b4	UTSW	1	133731907	critical splice acceptor site	probably null
R6078:Atp2b4	UTSW	1	133701702	small insertion	probably benign
R6079:Atp2b4	UTSW	1	133701702	small insertion	probably benign
R6244:Atp2b4	UTSW	1	133726561	missense	probably damaging	1.00
R6376:Atp2b4	UTSW	1	133715059	missense	probably damaging	1.00
R6483:Atp2b4	UTSW	1	133729880	missense	possibly damaging	0.68
R6526:Atp2b4	UTSW	1	133711729	missense	probably damaging	0.99
R6725:Atp2b4	UTSW	1	133706987	missense	probably benign	0.01
R6801:Atp2b4	UTSW	1	133727786	missense	probably damaging	0.97
R7548:Atp2b4	UTSW	1	133701641	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTAGAGCCTGCTGGGTAAG -3'
(R):5'- GGCCTTTAACTTGACTTCTGATATCAC -3'

Sequencing Primer
(F):5'- CCTGCTGGGTAAGAAGAACATTTTG -3'
(R):5'- GACTTCTGATATCACTCTACCCTGTG -3'

Posted On

2014-08-01