Mutagenetix > Incidental Mutation

Incidental Mutation 'R1469:Atp2b4'

164733

Institutional Source

Beutler Lab

Gene Symbol

Atp2b4

Ensembl Gene

ENSMUSG00000026463

Gene Name

ATPase, Ca++ transporting, plasma membrane 4

Synonyms

PMCA4

MMRRC Submission

039522-MU

Accession Numbers

Essential gene?

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

Stock #

R1469 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133630411-133728797 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 133634677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1124 (R1124C)

Ref Sequence

ENSEMBL: ENSMUSP00000133187 (fasta)

Gene Model

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

AlphaFold

Q6Q477

Predicted Effect

probably benign
Transcript: ENSMUST00000048953

SMART Domains

Protein: ENSMUSP00000047978
Gene: ENSMUSG00000026463

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: ENSMUST00000125659

SMART Domains

Protein: ENSMUSP00000116941
Gene: ENSMUSG00000026463

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: R1124C

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119242
Gene: ENSMUSG00000026463
AA Change: R1124C

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: R1124C

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133187
Gene: ENSMUSG00000026463
AA Change: R1124C

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

0.6467

Coding Region Coverage

1x: 98.9%
3x: 95.3%
10x: 69.3%
20x: 30.3%

Validation Efficiency

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,039,526 (GRCm39)	V261E	probably damaging	Het
Abca15	A	G	7: 119,981,720 (GRCm39)	E1058G	probably benign	Het
Abcb5	T	G	12: 118,831,681 (GRCm39)	I1224L	possibly damaging	Het
Actn4	A	G	7: 28,604,753 (GRCm39)	V348A	probably benign	Het
Agtr1b	A	T	3: 20,369,664 (GRCm39)	L314H	probably damaging	Het
Ankrd55	T	C	13: 112,504,460 (GRCm39)	M402T	probably benign	Het
Asap2	A	G	12: 21,263,180 (GRCm39)	Q265R	probably benign	Het
Atp2c1	A	T	9: 105,312,351 (GRCm39)	C353*	probably null	Het
Atp8b5	T	A	4: 43,291,733 (GRCm39)		probably null	Het
Baz1b	T	A	5: 135,246,833 (GRCm39)	Y761N	probably damaging	Het
Bend6	A	G	1: 33,903,824 (GRCm39)	V38A	probably benign	Het
Camk1g	T	C	1: 193,044,399 (GRCm39)	E5G	possibly damaging	Het
Ccdc14	T	A	16: 34,527,152 (GRCm39)	H352Q	probably damaging	Het
Cdh2	A	G	18: 16,757,324 (GRCm39)	V641A	possibly damaging	Het
Celsr2	C	A	3: 108,321,424 (GRCm39)	D463Y	probably damaging	Het
Cfap43	A	G	19: 47,885,314 (GRCm39)	Y434H	probably damaging	Het
Cnih2	T	C	19: 5,143,730 (GRCm39)	Y142C	probably damaging	Het
Coa5	T	A	1: 37,459,681 (GRCm39)	R71*	probably null	Het
Csmd3	A	T	15: 47,532,598 (GRCm39)	Y2532*	probably null	Het
Cytl1	A	T	5: 37,892,991 (GRCm39)	M34L	probably benign	Het
Dctn1	T	A	6: 83,169,871 (GRCm39)	I590N	probably damaging	Het
Dhx57	T	C	17: 80,561,847 (GRCm39)	H889R	probably damaging	Het
Dock10	A	G	1: 80,490,275 (GRCm39)	I1948T	probably benign	Het
Dock3	A	T	9: 106,832,908 (GRCm39)	N1034K	probably benign	Het
Dzip1l	G	A	9: 99,541,829 (GRCm39)		probably null	Het
Eif4g1	T	A	16: 20,498,758 (GRCm39)	V439E	possibly damaging	Het
Eml5	T	C	12: 98,825,082 (GRCm39)	I712V	probably benign	Het
Entrep1	G	A	19: 23,950,970 (GRCm39)	T537I	probably benign	Het
Epha3	C	T	16: 63,473,857 (GRCm39)	G300D	probably damaging	Het
Erbb4	A	C	1: 68,599,841 (GRCm39)	S79A	probably damaging	Het
Gclc	T	C	9: 77,688,419 (GRCm39)	V205A	probably benign	Het
Gdpd4	A	G	7: 97,623,673 (GRCm39)		probably null	Het
Gm11564	C	T	11: 99,706,058 (GRCm39)	C124Y	unknown	Het
Gm16494	T	C	17: 47,327,770 (GRCm39)	E38G	probably damaging	Het
Gtf2h1	T	C	7: 46,454,549 (GRCm39)		probably null	Het
Gtsf2	G	T	15: 103,349,644 (GRCm39)	R68S	probably benign	Het
Heatr5b	T	C	17: 79,115,813 (GRCm39)	Q881R	probably damaging	Het
Hmox1	C	A	8: 75,825,463 (GRCm39)	L236I	probably benign	Het
Ighv8-12	T	C	12: 115,611,963 (GRCm39)	I7V	probably benign	Het
Izumo1	T	C	7: 45,272,437 (GRCm39)	S73P	probably damaging	Het
Kifbp	A	T	10: 62,395,229 (GRCm39)	F471Y	probably damaging	Het
Knl1	A	G	2: 118,901,827 (GRCm39)	N1176S	possibly damaging	Het
Mecom	A	T	3: 30,034,197 (GRCm39)	L493Q	probably damaging	Het
Mprip	T	C	11: 59,650,016 (GRCm39)	V1240A	probably damaging	Het
Mrpl3	T	C	9: 104,954,201 (GRCm39)	S302P	probably damaging	Het
Mycbp2	T	C	14: 103,425,956 (GRCm39)	T2390A	probably damaging	Het
Myo1c	T	C	11: 75,560,787 (GRCm39)	S766P	probably damaging	Het
Myo9b	A	G	8: 71,743,680 (GRCm39)	Q247R	probably damaging	Het
Nav3	G	A	10: 109,596,369 (GRCm39)	T1423I	probably damaging	Het
Nefh	A	T	11: 4,890,066 (GRCm39)	I851N	probably benign	Het
Nup98	T	C	7: 101,788,008 (GRCm39)	T1004A	probably benign	Het
Or1e17	T	C	11: 73,831,383 (GRCm39)	F104L	probably benign	Het
Or1e22	G	A	11: 73,377,149 (GRCm39)	S167L	possibly damaging	Het
Or5k8	G	A	16: 58,644,973 (GRCm39)	T33I	probably benign	Het
Or5p76	T	C	7: 108,122,411 (GRCm39)	T249A	probably benign	Het
Osgin1	G	T	8: 120,172,124 (GRCm39)	R306L	possibly damaging	Het
Otof	A	G	5: 30,537,571 (GRCm39)	L1246P	probably benign	Het
Pde8a	T	A	7: 80,952,019 (GRCm39)	N273K	probably damaging	Het
Phf14	T	A	6: 11,933,726 (GRCm39)	M196K	possibly damaging	Het
Pkd1l3	T	C	8: 110,373,585 (GRCm39)	S1374P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,400,282 (GRCm39)	V2142A	probably benign	Het
Plb1	A	G	5: 32,512,170 (GRCm39)	E1318G	possibly damaging	Het
Plekhh2	A	G	17: 84,883,199 (GRCm39)	I756V	probably benign	Het
Primpol	A	G	8: 47,046,672 (GRCm39)	V208A	probably benign	Het
Ptch2	C	A	4: 116,965,662 (GRCm39)	A389E	probably benign	Het
Pzp	A	G	6: 128,489,319 (GRCm39)	Y431H	probably benign	Het
Rnf43	G	A	11: 87,622,233 (GRCm39)	G445R	probably damaging	Het
Scn5a	A	T	9: 119,362,727 (GRCm39)		probably null	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Shisa9	T	A	16: 11,802,935 (GRCm39)	M164K	probably damaging	Het
Skint1	A	G	4: 111,882,708 (GRCm39)	I251V	probably benign	Het
Slc16a14	C	T	1: 84,907,182 (GRCm39)	D31N	probably damaging	Het
Slc22a13	T	C	9: 119,022,361 (GRCm39)	S548G	possibly damaging	Het
Slc4a9	T	C	18: 36,664,154 (GRCm39)	F316L	probably benign	Het
Smchd1	C	T	17: 71,656,725 (GRCm39)	R1914H	probably damaging	Het
Snx16	C	T	3: 10,499,431 (GRCm39)	D200N	probably damaging	Het
Spock3	A	G	8: 63,404,934 (GRCm39)	D34G	probably damaging	Het
Sspo	T	C	6: 48,467,916 (GRCm39)	C4154R	probably damaging	Het
Sytl3	C	T	17: 6,954,723 (GRCm39)	A131V	probably benign	Het
Tacc1	T	A	8: 25,672,271 (GRCm39)	D319V	probably benign	Het
Tead1	A	T	7: 112,475,391 (GRCm39)	K234I	probably damaging	Het
Tgfbrap1	C	T	1: 43,114,618 (GRCm39)	V161I	probably benign	Het
Tnfaip3	A	G	10: 18,884,017 (GRCm39)	V121A	probably damaging	Het
Tnnt2	A	G	1: 135,779,793 (GRCm39)	T297A	possibly damaging	Het
Trappc11	G	A	8: 47,957,000 (GRCm39)	L809F	probably damaging	Het
Ttn	T	C	2: 76,601,869 (GRCm39)	I18598V	probably benign	Het
Ugt1a10	G	A	1: 88,143,976 (GRCm39)	A199T	probably damaging	Het
Unc5a	A	G	13: 55,144,232 (GRCm39)	N186D	probably damaging	Het
Uqcrfs1	C	A	13: 30,724,784 (GRCm39)	G252V	probably damaging	Het
Vmn2r115	T	C	17: 23,564,992 (GRCm39)	I293T	probably damaging	Het
Vmn2r9	T	C	5: 108,991,694 (GRCm39)	T556A	probably benign	Het
Ythdc2	T	A	18: 44,997,529 (GRCm39)	Y1029N	probably benign	Het
Zfp451	T	A	1: 33,808,894 (GRCm39)	K989M	possibly damaging	Het
Zfpm1	C	T	8: 123,062,585 (GRCm39)	T548M	probably damaging	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
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
R2091:Atp2b4	UTSW	1	133,642,968 (GRCm39)	missense	probably benign	0.00
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'- CACCGTCACATACAGATGGGACAG -3'
(R):5'- TTTGAGACATCCTCACCGACTGCC -3'

Sequencing Primer
(F):5'- AGGCAACGATTTGCACTTG -3'
(R):5'- CCTGTGCTTGAGATCCGAGG -3'

Posted On

2014-03-28