Mutagenetix > Incidental Mutation

Incidental Mutation 'R2091:Atp2b4'

332762

Institutional Source

Beutler Lab

Gene Symbol

Atp2b4

Ensembl Gene

ENSMUSG00000026463

Gene Name

ATPase, Ca++ transporting, plasma membrane 4

Synonyms

PMCA4

MMRRC Submission

040096-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.440) question?

Stock #

R2091 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133630411-133728797 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 133642968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 1046 (V1046F)

Ref Sequence

ENSEMBL: ENSMUSP00000133187 (fasta)

Gene Model

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

AlphaFold

Q6Q477

Predicted Effect

probably benign
Transcript: ENSMUST00000048953
AA Change: V1046F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000047978
Gene: ENSMUSG00000026463
AA Change: V1046F

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: V1046F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000107883
Gene: ENSMUSG00000026463
AA Change: V1046F

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: V1046F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000116941
Gene: ENSMUSG00000026463
AA Change: V1046F

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: V1046F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000119242
Gene: ENSMUSG00000026463
AA Change: V1046F

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: V1046F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000133187
Gene: ENSMUSG00000026463
AA Change: V1046F

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

96% (55/57)

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
4921504E06Rik	G	C	2: 19,522,357 (GRCm39)	N247K	probably damaging	Het
4930402F06Rik	T	C	2: 35,266,079 (GRCm39)	K197R	probably benign	Het
AA986860	T	C	1: 130,670,906 (GRCm39)	L376P	probably benign	Het
Adamts10	T	C	17: 33,770,166 (GRCm39)		probably null	Het
Adamts7	T	C	9: 90,070,493 (GRCm39)		probably null	Het
Adgrl1	T	C	8: 84,661,093 (GRCm39)	I862T	probably damaging	Het
Agbl1	G	A	7: 76,239,248 (GRCm39)	V583M	probably damaging	Het
Apba2	T	A	7: 64,345,341 (GRCm39)	V177D	probably benign	Het
Arfgap2	A	G	2: 91,100,586 (GRCm39)	K297R	probably benign	Het
Armh3	A	T	19: 45,941,119 (GRCm39)	L300Q	probably damaging	Het
Atg14	A	T	14: 47,780,352 (GRCm39)	I474N	probably damaging	Het
Best1	A	G	19: 9,969,443 (GRCm39)	V205A	probably benign	Het
Bicdl1	A	G	5: 115,862,638 (GRCm39)	S206P	probably damaging	Het
Bltp1	T	C	3: 37,008,119 (GRCm39)	V1725A	probably damaging	Het
Bltp1	C	T	3: 37,042,405 (GRCm39)	T2797I	probably damaging	Het
Cacna1h	C	T	17: 25,651,850 (GRCm39)	C98Y	possibly damaging	Het
Calhm3	T	A	19: 47,140,430 (GRCm39)	D221V	probably damaging	Het
Ccdc93	T	A	1: 121,411,071 (GRCm39)		probably null	Het
Cd248	A	T	19: 5,120,074 (GRCm39)	I641F	possibly damaging	Het
Chrnb3	C	T	8: 27,884,262 (GRCm39)	T333M	probably damaging	Het
Cyb5rl	A	G	4: 106,928,203 (GRCm39)	H113R	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddx59	T	A	1: 136,344,447 (GRCm39)	D39E	probably benign	Het
Defa5	A	G	8: 21,787,513 (GRCm39)	D20G	probably damaging	Het
Dido1	A	T	2: 180,303,677 (GRCm39)	V1409E	probably benign	Het
Dlc1	A	T	8: 37,404,763 (GRCm39)	V342E	probably benign	Het
Dsc2	G	A	18: 20,166,351 (GRCm39)	T760I	possibly damaging	Het
Dync1h1	A	G	12: 110,616,022 (GRCm39)	I3057V	probably benign	Het
Etnk2	T	G	1: 133,304,791 (GRCm39)		probably null	Het
Fbp2	G	T	13: 63,006,021 (GRCm39)	L31I	probably damaging	Het
Gbp7	A	T	3: 142,240,383 (GRCm39)	I34F	probably damaging	Het
Gcfc2	A	G	6: 81,920,460 (GRCm39)	E415G	probably damaging	Het
Glp1r	T	C	17: 31,144,523 (GRCm39)	L232P	probably damaging	Het
Gm10822	A	G	2: 73,729,619 (GRCm39)		noncoding transcript	Het
Gm42669	G	A	5: 107,655,776 (GRCm39)	V1192M	probably benign	Het
Gpr37	A	G	6: 25,689,062 (GRCm39)	S12P	possibly damaging	Het
Gpt	A	G	15: 76,582,176 (GRCm39)	E211G	possibly damaging	Het
Grxcr1	T	C	5: 68,267,755 (GRCm39)	I168T	probably damaging	Het
Hat1	T	C	2: 71,264,378 (GRCm39)	V272A	probably benign	Het
Igkv8-30	A	C	6: 70,094,070 (GRCm39)	C114G	probably damaging	Het
Kcne4	T	C	1: 78,795,624 (GRCm39)	S91P	probably benign	Het
Kif5b	G	A	18: 6,213,248 (GRCm39)	Q715*	probably null	Het
Lamb1	T	A	12: 31,337,428 (GRCm39)	N386K	probably damaging	Het
Lcmt2	T	C	2: 120,969,097 (GRCm39)	N662S	probably damaging	Het
Lnx1	G	T	5: 74,780,727 (GRCm39)	H324N	probably benign	Het
Lrrc4	T	G	6: 28,830,586 (GRCm39)	D343A	probably benign	Het
Mars1	A	G	10: 127,135,154 (GRCm39)	S646P	probably damaging	Het
Mboat7	T	C	7: 3,687,010 (GRCm39)		probably benign	Het
Mlip	C	T	9: 77,072,145 (GRCm39)	V341I	possibly damaging	Het
Mterf1b	A	T	5: 4,247,057 (GRCm39)	T233S	possibly damaging	Het
Myo3a	A	T	2: 22,338,488 (GRCm39)	H442L	probably damaging	Het
Myrf	A	T	19: 10,201,964 (GRCm39)	V171D	possibly damaging	Het
Nbas	G	A	12: 13,411,046 (GRCm39)	D897N	probably benign	Het
Nfx1	T	C	4: 40,977,004 (GRCm39)	V226A	probably benign	Het
Nlrp4a	T	C	7: 26,149,578 (GRCm39)	L395P	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nsun6	A	G	2: 15,044,542 (GRCm39)		probably null	Het
Ntrk2	A	G	13: 59,007,115 (GRCm39)	H239R	possibly damaging	Het
Or10g9	T	C	9: 39,912,500 (GRCm39)	T8A	probably benign	Het
Or4k51	A	T	2: 111,584,731 (GRCm39)	M46L	probably benign	Het
Or5aq7	T	C	2: 86,938,606 (GRCm39)	N42D	probably damaging	Het
Or5p70	A	G	7: 107,995,068 (GRCm39)	H247R	probably damaging	Het
Pate4	C	A	9: 35,519,553 (GRCm39)	A46S	possibly damaging	Het
Pcdhb18	T	C	18: 37,623,653 (GRCm39)	S328P	probably damaging	Het
Pdk4	A	G	6: 5,494,857 (GRCm39)		probably benign	Het
Pigm	T	C	1: 172,205,100 (GRCm39)	Y279H	probably damaging	Het
Plaat3	A	G	19: 7,556,474 (GRCm39)	I92V	probably damaging	Het
Plxdc2	A	G	2: 16,718,494 (GRCm39)	I379M	probably damaging	Het
Ppp1r35	A	G	5: 137,778,156 (GRCm39)	N217S	possibly damaging	Het
Prex1	G	A	2: 166,411,285 (GRCm39)	T1438I	possibly damaging	Het
Ptger4	T	A	15: 5,272,326 (GRCm39)	I98F	possibly damaging	Het
Rasl11a	T	A	5: 146,783,927 (GRCm39)	I124N	probably damaging	Het
Rest	A	G	5: 77,429,126 (GRCm39)	K515R	possibly damaging	Het
Ryr1	A	G	7: 28,785,474 (GRCm39)	L1746P	probably damaging	Het
Ryr2	G	T	13: 11,960,863 (GRCm39)	T25K	probably benign	Het
Sacs	A	T	14: 61,429,368 (GRCm39)	I476L	possibly damaging	Het
Serpina3g	A	T	12: 104,205,417 (GRCm39)	D52V	probably damaging	Het
Skint6	T	C	4: 112,703,881 (GRCm39)	N998S	probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc10a4	G	A	5: 73,174,482 (GRCm39)		probably benign	Het
Slc24a2	G	T	4: 86,929,883 (GRCm39)	P538T	probably damaging	Het
Sntg1	T	A	1: 8,665,763 (GRCm39)	T184S	probably benign	Het
Ssbp1	A	G	6: 40,453,433 (GRCm39)	Y73C	probably null	Het
St18	G	A	1: 6,898,195 (GRCm39)	V666M	probably benign	Het
Suclg1	A	G	6: 73,241,259 (GRCm39)	K193R	probably benign	Het
Tcp11l1	T	C	2: 104,514,484 (GRCm39)	I428V	possibly damaging	Het
Th	T	A	7: 142,449,280 (GRCm39)	D275V	probably damaging	Het
Tnrc18	A	C	5: 142,759,396 (GRCm39)	S813R	unknown	Het
Tnrc6a	T	C	7: 122,771,343 (GRCm39)		probably null	Het
Trap1	A	C	16: 3,863,903 (GRCm39)	Y472*	probably null	Het
Trdv1	C	A	14: 54,119,626 (GRCm39)	Q96K	probably benign	Het
Trpm8	T	C	1: 88,271,048 (GRCm39)	I446T	probably damaging	Het
Tti2	T	C	8: 31,644,294 (GRCm39)	L297P	probably damaging	Het
Ttn	C	T	2: 76,565,355 (GRCm39)	G26545R	probably damaging	Het
Ttn	T	C	2: 76,587,488 (GRCm39)	D13208G	probably damaging	Het
Tubb3	A	G	8: 124,148,417 (GRCm39)		probably null	Het
Umodl1	A	G	17: 31,190,893 (GRCm39)	M247V	probably benign	Het
Wrn	T	A	8: 33,757,853 (GRCm39)	H812L	probably benign	Het
Zfp174	A	G	16: 3,672,506 (GRCm39)	R352G	possibly damaging	Het
Zfp955a	T	A	17: 33,461,731 (GRCm39)	K134*	probably null	Het

Other mutations in Atp2b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02387:Atp2b4	APN	1	133,659,627 (GRCm39)	missense	probably damaging	1.00
IGL02887:Atp2b4	APN	1	133,656,512 (GRCm39)	missense	probably damaging	1.00
IGL02964:Atp2b4	APN	1	133,658,303 (GRCm39)	missense	probably damaging	1.00
IGL03116:Atp2b4	APN	1	133,656,506 (GRCm39)	missense	possibly damaging	0.95
IGL03227:Atp2b4	APN	1	133,657,445 (GRCm39)	splice site	probably benign
G1patch:Atp2b4	UTSW	1	133,634,725 (GRCm39)	missense	probably benign	0.01
R0018:Atp2b4	UTSW	1	133,645,609 (GRCm39)	missense	probably damaging	1.00
R0018:Atp2b4	UTSW	1	133,645,609 (GRCm39)	missense	probably damaging	1.00
R0279:Atp2b4	UTSW	1	133,657,440 (GRCm39)	splice site	probably benign
R0455:Atp2b4	UTSW	1	133,656,454 (GRCm39)	missense	probably damaging	1.00
R0511:Atp2b4	UTSW	1	133,659,956 (GRCm39)	splice site	probably benign
R0712:Atp2b4	UTSW	1	133,658,216 (GRCm39)	missense	probably damaging	1.00
R1469:Atp2b4	UTSW	1	133,634,677 (GRCm39)	missense	probably damaging	0.97
R1469:Atp2b4	UTSW	1	133,634,677 (GRCm39)	missense	probably damaging	0.97
R1529:Atp2b4	UTSW	1	133,645,726 (GRCm39)	missense	probably damaging	1.00
R1771:Atp2b4	UTSW	1	133,660,131 (GRCm39)	missense	probably damaging	0.96
R1954:Atp2b4	UTSW	1	133,667,730 (GRCm39)	missense	probably damaging	1.00
R2054:Atp2b4	UTSW	1	133,642,907 (GRCm39)	missense	probably benign	0.03
R2056:Atp2b4	UTSW	1	133,654,275 (GRCm39)	missense	probably benign	0.36
R2059:Atp2b4	UTSW	1	133,654,275 (GRCm39)	missense	probably benign	0.36
R2263:Atp2b4	UTSW	1	133,654,271 (GRCm39)	missense	probably benign	0.35
R3907:Atp2b4	UTSW	1	133,666,324 (GRCm39)	missense	probably damaging	1.00
R4362:Atp2b4	UTSW	1	133,667,669 (GRCm39)	missense	possibly damaging	0.94
R4756:Atp2b4	UTSW	1	133,667,134 (GRCm39)	missense	probably benign	0.41
R4756:Atp2b4	UTSW	1	133,639,529 (GRCm39)	missense	probably benign	0.00
R4856:Atp2b4	UTSW	1	133,634,518 (GRCm39)	missense	probably benign	0.00
R4886:Atp2b4	UTSW	1	133,634,518 (GRCm39)	missense	probably benign	0.00
R5177:Atp2b4	UTSW	1	133,656,506 (GRCm39)	missense	probably benign	0.00
R5454:Atp2b4	UTSW	1	133,657,610 (GRCm39)	missense	probably damaging	1.00
R5594:Atp2b4	UTSW	1	133,658,248 (GRCm39)	missense	probably damaging	1.00
R5712:Atp2b4	UTSW	1	133,658,278 (GRCm39)	missense	probably damaging	1.00
R6034:Atp2b4	UTSW	1	133,659,645 (GRCm39)	critical splice acceptor site	probably null
R6034:Atp2b4	UTSW	1	133,659,645 (GRCm39)	critical splice acceptor site	probably null
R6078:Atp2b4	UTSW	1	133,629,440 (GRCm39)	small insertion	probably benign
R6079:Atp2b4	UTSW	1	133,629,440 (GRCm39)	small insertion	probably benign
R6244:Atp2b4	UTSW	1	133,654,299 (GRCm39)	missense	probably damaging	1.00
R6376:Atp2b4	UTSW	1	133,642,797 (GRCm39)	missense	probably damaging	1.00
R6483:Atp2b4	UTSW	1	133,657,618 (GRCm39)	missense	possibly damaging	0.68
R6526:Atp2b4	UTSW	1	133,639,467 (GRCm39)	missense	probably damaging	0.99
R6725:Atp2b4	UTSW	1	133,634,725 (GRCm39)	missense	probably benign	0.01
R6801:Atp2b4	UTSW	1	133,655,524 (GRCm39)	missense	probably damaging	0.97
R7548:Atp2b4	UTSW	1	133,629,379 (GRCm39)	makesense	probably null
R7946:Atp2b4	UTSW	1	133,658,320 (GRCm39)	missense	probably damaging	0.96
R8228:Atp2b4	UTSW	1	133,629,459 (GRCm39)	small insertion	probably benign
R8401:Atp2b4	UTSW	1	133,659,574 (GRCm39)	missense	probably damaging	1.00
R8720:Atp2b4	UTSW	1	133,629,465 (GRCm39)	small insertion	probably benign
R8787:Atp2b4	UTSW	1	133,629,485 (GRCm39)	small insertion	probably benign
R8882:Atp2b4	UTSW	1	133,654,193 (GRCm39)	critical splice donor site	probably null
R8966:Atp2b4	UTSW	1	133,666,317 (GRCm39)	missense	probably benign	0.30
R9033:Atp2b4	UTSW	1	133,634,725 (GRCm39)	missense	probably benign	0.01
R9121:Atp2b4	UTSW	1	133,629,463 (GRCm39)	small insertion	probably benign
R9160:Atp2b4	UTSW	1	133,660,143 (GRCm39)	missense	probably benign	0.13
R9366:Atp2b4	UTSW	1	133,642,920 (GRCm39)	missense	probably damaging	1.00
R9592:Atp2b4	UTSW	1	133,659,568 (GRCm39)	missense	probably damaging	1.00
R9657:Atp2b4	UTSW	1	133,656,478 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCTGAGTCTGAATCCGGTTC -3'
(R):5'- AGGAATCAAGTCCCCTTCTGTG -3'

Sequencing Primer
(F):5'- TGAATCCGGTTCAGGCCAC -3'
(R):5'- TGTGTCCACAAATGCTGGCAC -3'

Posted On

2015-08-13