Mutagenetix > Incidental Mutations

Incidental Mutation 'R2054:Atp2b4'

226485

Institutional Source

Beutler Lab

Gene Symbol

Atp2b4

Ensembl Gene

ENSMUSG00000026463

Gene Name

ATPase, Ca++ transporting, plasma membrane 4

Synonyms

PMCA4

MMRRC Submission

040059-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.302) question?

Stock #

R2054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133699457-133801041 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133715169 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1066 (D1066G)

Ref Sequence

ENSEMBL: ENSMUSP00000133187 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048953
AA Change: D1066G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000047978
Gene: ENSMUSG00000026463
AA Change: D1066G

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 benign
Transcript: ENSMUST00000112264
AA Change: D1066G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000107883
Gene: ENSMUSG00000026463
AA Change: D1066G

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 benign
Transcript: ENSMUST00000125659
AA Change: D1066G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000116941
Gene: ENSMUSG00000026463
AA Change: D1066G

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

noncoding transcript
Transcript: ENSMUST00000140810

Predicted Effect

probably benign
Transcript: ENSMUST00000143567
AA Change: D1066G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000119242
Gene: ENSMUSG00000026463
AA Change: D1066G

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 benign
Transcript: ENSMUST00000165602
AA Change: D1066G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000133187
Gene: ENSMUSG00000026463
AA Change: D1066G

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

0.1196

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,837,736	C94S	possibly damaging	Het
4932438A13Rik	A	G	3: 36,947,853	T1316A	probably benign	Het
4933417A18Rik	T	A	13: 34,924,591	Y19N	probably damaging	Het
9330182L06Rik	C	A	5: 9,463,030	T1008K	possibly damaging	Het
A930011G23Rik	T	C	5: 99,228,055	Y432C	probably benign	Het
Abtb2	A	G	2: 103,705,117	D543G	probably benign	Het
Adam9	A	T	8: 24,991,294	V318E	probably damaging	Het
Aim2	T	C	1: 173,463,982	F318L	probably damaging	Het
Apob	A	T	12: 8,013,134	D3872V	probably damaging	Het
Atat1	T	A	17: 35,901,369	R323W	probably null	Het
Caskin2	T	C	11: 115,806,301		probably benign	Het
Ccdc54	T	A	16: 50,590,624	N93I	probably damaging	Het
Ccnd1	A	C	7: 144,937,391	D159E	possibly damaging	Het
Cnot1	A	C	8: 95,739,841	S1589R	possibly damaging	Het
Copa	T	A	1: 172,118,957	Y980*	probably null	Het
Defb19	A	G	2: 152,576,170	I82T	possibly damaging	Het
Fiz1	G	A	7: 5,008,236	R428C	probably damaging	Het
Fnip2	A	T	3: 79,572,465		probably benign	Het
Gabrb3	G	A	7: 57,824,493	G408S	probably benign	Het
Gif	G	A	19: 11,759,006	V314I	probably benign	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Hao1	C	T	2: 134,498,258		silent	Het
Hecw1	T	A	13: 14,297,413	M557L	probably damaging	Het
Itch	A	T	2: 155,210,576	I699F	probably damaging	Het
Kmt2a	T	C	9: 44,823,374		probably benign	Het
Leng8	T	G	7: 4,144,290	Y562*	probably null	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Lrp1b	A	T	2: 40,697,482	N151K	unknown	Het
Lrrc71	T	C	3: 87,742,673	E316G	probably damaging	Het
Mgat5	A	G	1: 127,397,607	N404D	probably damaging	Het
Mrps26	C	A	2: 130,564,167	T100K	probably benign	Het
Mtor	A	G	4: 148,462,852	T431A	probably benign	Het
Mtor	T	A	4: 148,466,025	C713S	probably benign	Het
Mug2	A	G	6: 122,077,492	K1077E	probably damaging	Het
Nbas	A	G	12: 13,474,206	T1688A	probably benign	Het
Nek2	T	C	1: 191,821,652	S3P	possibly damaging	Het
Nell2	T	C	15: 95,435,109	T190A	probably benign	Het
Npr2	A	T	4: 43,646,560	N636I	probably damaging	Het
Orc3	A	T	4: 34,584,846	I453K	probably damaging	Het
Pcnx	A	G	12: 81,933,674	H865R	probably benign	Het
Pex1	T	C	5: 3,603,341	V80A	possibly damaging	Het
Phka2	T	A	X: 160,554,327	D424E	probably damaging	Het
Pkd1	C	T	17: 24,574,796	T1819I	probably benign	Het
Poglut1	T	C	16: 38,534,807	D219G	probably damaging	Het
Ppargc1a	T	C	5: 51,473,788	I500V	possibly damaging	Het
Pygm	C	G	19: 6,388,155	N163K	probably benign	Het
Qrich1	T	A	9: 108,559,270	N722K	possibly damaging	Het
Reep6	T	A	10: 80,330,322	C104*	probably null	Het
Rfx8	A	G	1: 39,685,559	V214A	possibly damaging	Het
Sis	G	A	3: 72,913,237	T1398I	probably benign	Het
Skint5	A	G	4: 113,819,163		probably null	Het
Slc7a14	A	G	3: 31,237,362		probably benign	Het
Smc2	T	A	4: 52,462,948	M646K	probably benign	Het
Snx29	A	G	16: 11,631,492	N165S	probably damaging	Het
Supt6	T	A	11: 78,224,361		probably benign	Het
Tead4	G	T	6: 128,270,962	S37R	probably damaging	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tff2	T	C	17: 31,143,225	K40E	probably benign	Het
Traip	C	T	9: 107,962,919	T265M	probably benign	Het
Trim47	T	C	11: 116,108,283	T256A	probably benign	Het
Trpm1	A	G	7: 64,240,555	M853V	possibly damaging	Het
Tti1	G	T	2: 158,007,445	Q625K	possibly damaging	Het
Ube2n	A	G	10: 95,541,266	N31S	probably damaging	Het
Vmn2r17	T	C	5: 109,452,486	M550T	probably damaging	Het
Zfp512	T	A	5: 31,465,449	N31K	probably benign	Het
Zfp64	A	G	2: 168,925,808	V628A	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
R1954:Atp2b4	UTSW	1	133739992	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TGCCAGGAATTACTGCCTTCC -3'
(R):5'- ATCTCCTGGGCAGCTTAGTG -3'

Sequencing Primer
(F):5'- GGAATTACTGCCTTCCTACCC -3'
(R):5'- GTGCTTCTCAGGTGGGAAAG -3'

Posted On

2014-09-17