Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Atp2b4'

505420

Institutional Source

Beutler Lab

Gene Symbol

Atp2b4

Ensembl Gene

ENSMUSG00000026463

Gene Name

ATPase, Ca++ transporting, plasma membrane 4

Synonyms

PMCA4

MMRRC Submission

044435-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

R6244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133630411-133728797 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133654299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 769 (I769F)

Ref Sequence

ENSEMBL: ENSMUSP00000133187 (fasta)

Gene Model

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

AlphaFold

Q6Q477

Predicted Effect

probably damaging
Transcript: ENSMUST00000048953
AA Change: I769F

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

SMART Domains

Protein: ENSMUSP00000047978
Gene: ENSMUSG00000026463
AA Change: I769F

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: I769F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107883
Gene: ENSMUSG00000026463
AA Change: I769F

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: I769F

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

SMART Domains

Protein: ENSMUSP00000116941
Gene: ENSMUSG00000026463
AA Change: I769F

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: I769F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119242
Gene: ENSMUSG00000026463
AA Change: I769F

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: I769F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133187
Gene: ENSMUSG00000026463
AA Change: I769F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183597

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,150 (GRCm39)	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,402,531 (GRCm39)	M499K	probably benign	Het
Adgrv1	G	A	13: 81,255,050 (GRCm39)	T211I	probably damaging	Het
Adss2	C	T	1: 177,604,395 (GRCm39)	E153K	probably benign	Het
Ago4	C	A	4: 126,405,280 (GRCm39)	G431V	possibly damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Atp9a	T	C	2: 168,531,272 (GRCm39)		probably null	Het
Bltp1	T	C	3: 37,011,148 (GRCm39)	V1782A	probably benign	Het
Brap	C	A	5: 121,803,372 (GRCm39)	D173E	probably benign	Het
Brca2	G	T	5: 150,490,443 (GRCm39)	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,730,176 (GRCm39)	P555Q	probably benign	Het
Ccser2	A	G	14: 36,662,675 (GRCm39)	S170P	probably benign	Het
Celsr2	T	C	3: 108,300,444 (GRCm39)	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,194,244 (GRCm39)	R174M	probably damaging	Het
Cfap57	T	G	4: 118,436,607 (GRCm39)	I930L	probably damaging	Het
Cx3cr1	C	T	9: 119,880,760 (GRCm39)	R214H	probably damaging	Het
Cyp4f14	T	A	17: 33,125,291 (GRCm39)	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,772,620 (GRCm39)	F592L	probably damaging	Het
Ddb1	A	G	19: 10,603,287 (GRCm39)	E865G	probably damaging	Het
Ddx50	A	T	10: 62,457,345 (GRCm39)		probably null	Het
Dpp6	A	G	5: 27,254,626 (GRCm39)	T14A	probably damaging	Het
Echs1	C	A	7: 139,692,982 (GRCm39)	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,683,783 (GRCm39)	D587V	probably damaging	Het
Ect2l	A	T	10: 18,016,145 (GRCm39)	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,044,223 (GRCm39)	G342S	probably benign	Het
Fbxo33	C	A	12: 59,252,865 (GRCm39)	K211N	probably benign	Het
Fchsd2	A	G	7: 100,908,983 (GRCm39)		probably null	Het
Fen1	A	G	19: 10,178,051 (GRCm39)	V131A	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092 (GRCm38)	E587G	probably damaging	Het
Foxd3	A	G	4: 99,545,477 (GRCm39)	T206A	possibly damaging	Het
Fut1	A	G	7: 45,268,730 (GRCm39)	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,823,560 (GRCm39)	F379L	probably damaging	Het
Gcnt2	A	C	13: 41,014,717 (GRCm39)	E296A	probably damaging	Het
Gm7145	T	A	1: 117,913,870 (GRCm39)	C251S	probably damaging	Het
Gpam	G	A	19: 55,059,417 (GRCm39)	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,366,726 (GRCm39)	L87M	possibly damaging	Het
Itgae	A	G	11: 73,036,427 (GRCm39)	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,012,570 (GRCm39)	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,552,830 (GRCm39)	Y511*	probably null	Het
Kdm3b	T	A	18: 34,926,058 (GRCm39)	I66N	probably damaging	Het
Klk1b27	A	T	7: 43,703,974 (GRCm39)	H39L	probably benign	Het
Kmo	C	T	1: 175,487,261 (GRCm39)	T404I	possibly damaging	Het
Krt222	C	T	11: 99,125,884 (GRCm39)		probably null	Het
Magi3	G	C	3: 103,923,013 (GRCm39)	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Med15	G	A	16: 17,470,609 (GRCm39)	Q583*	probably null	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Myh13	A	G	11: 67,253,327 (GRCm39)	M1488V	probably benign	Het
Naip2	A	T	13: 100,288,645 (GRCm39)	F1193L	probably damaging	Het
Nop58	T	A	1: 59,742,014 (GRCm39)	M181K	probably damaging	Het
Npepps	A	T	11: 97,104,616 (GRCm39)	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,661,363 (GRCm39)	F301S	probably damaging	Het
Nynrin	G	A	14: 56,105,485 (GRCm39)	V832I	probably damaging	Het
Or13a28	C	A	7: 140,218,346 (GRCm39)	S244Y	probably damaging	Het
Or1j14	T	A	2: 36,418,353 (GRCm39)	C310S	probably benign	Het
Or2ak7	A	T	11: 58,574,830 (GRCm39)	T44S	possibly damaging	Het
Or4e1	T	A	14: 52,701,352 (GRCm39)	Y38F	probably damaging	Het
Or8k1	T	A	2: 86,047,566 (GRCm39)	T163S	possibly damaging	Het
Phrf1	T	A	7: 140,817,586 (GRCm39)	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,315,015 (GRCm39)		probably null	Het
Polr2a	G	A	11: 69,635,052 (GRCm39)	T569M	probably damaging	Het
Prr29	A	G	11: 106,267,458 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Sc5d	T	C	9: 42,166,717 (GRCm39)	E274G	probably benign	Het
Serpina1d	A	T	12: 103,731,087 (GRCm39)		probably null	Het
Serpinb11	T	A	1: 107,299,972 (GRCm39)	I106N	probably damaging	Het
Setd2	G	A	9: 110,377,733 (GRCm39)	R516K	probably damaging	Het
Sirt2	G	T	7: 28,487,222 (GRCm39)	C291F	probably damaging	Het
Stac3	T	C	10: 127,344,044 (GRCm39)	V314A	probably damaging	Het
Stat6	C	T	10: 127,493,581 (GRCm39)		probably null	Het
Strn3	A	G	12: 51,656,890 (GRCm39)	V712A	probably damaging	Het
Tmc5	G	T	7: 118,233,437 (GRCm39)	G84C	possibly damaging	Het
Tnik	C	A	3: 28,704,328 (GRCm39)	L996I	probably damaging	Het
Trim30d	G	T	7: 104,136,817 (GRCm39)	T129K	probably damaging	Het
Triml1	G	T	8: 43,591,793 (GRCm39)	Y188*	probably null	Het
Trpc7	A	G	13: 56,921,705 (GRCm39)	Y760H	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,458,246 (GRCm39)	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,983,827 (GRCm39)	C61*	probably null	Het
Vmn2r18	A	T	5: 151,508,116 (GRCm39)	V336E	probably damaging	Het
Vwa8	T	C	14: 79,324,102 (GRCm39)	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,940,503 (GRCm39)	V24A	probably benign	Het
Zfp354c	A	G	11: 50,705,798 (GRCm39)	Y426H	probably benign	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
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
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'- AGGCAGGATTCGAAGGCATC -3'
(R):5'- AGGCTACCTTTCTCGGTTCAG -3'

Sequencing Primer
(F):5'- ATCGGAAGCAGACACTTGGCTC -3'
(R):5'- CAGCGAATCAATTGCCTGTG -3'

Posted On

2018-02-28