Mutagenetix > Incidental Mutation

Incidental Mutation 'R4856:Atp2b4'

373925

Institutional Source

Beutler Lab

Gene Symbol

Atp2b4

Ensembl Gene

ENSMUSG00000026463

Gene Name

ATPase, Ca++ transporting, plasma membrane 4

Synonyms

PMCA4

MMRRC Submission

042467-MU

Accession Numbers

Essential gene?

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

Stock #

R4856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133630411-133728797 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133634518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1177 (I1177L)

Ref Sequence

ENSEMBL: ENSMUSP00000133187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048953] [ENSMUST00000125659] [ENSMUST00000143567] [ENSMUST00000165602] [ENSMUST00000167348]

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 benign
Transcript: ENSMUST00000143567
AA Change: I1177L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119242
Gene: ENSMUSG00000026463
AA Change: I1177L

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: I1177L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133187
Gene: ENSMUSG00000026463
AA Change: I1177L

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

probably benign
Transcript: ENSMUST00000167348

SMART Domains

Protein: ENSMUSP00000126957
Gene: ENSMUSG00000026463

Domain	Start	End	E-Value	Type
coiled coil region	1	71	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	G	A	6: 140,589,799 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bub3	A	T	7: 131,163,297 (GRCm39)	D76V	probably damaging	Het
Cacna2d4	G	A	6: 119,255,217 (GRCm39)	R578Q	possibly damaging	Het
Caprin2	A	C	6: 148,774,509 (GRCm39)	S268A	probably benign	Het
Card6	T	C	15: 5,134,623 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,319 (GRCm39)	S1103P	probably benign	Het
Cfap221	T	C	1: 119,861,934 (GRCm39)	T614A	probably damaging	Het
Cfap221	T	A	1: 119,912,488 (GRCm39)	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,584,154 (GRCm39)	T513A	probably benign	Het
Clec4g	T	A	8: 3,766,419 (GRCm39)		probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Cpne2	T	A	8: 95,290,592 (GRCm39)	D392E	probably benign	Het
Cry1	G	T	10: 84,984,634 (GRCm39)	P147T	probably damaging	Het
Cyp4a29	T	C	4: 115,110,078 (GRCm39)	V440A	probably benign	Het
Ddx46	A	G	13: 55,786,012 (GRCm39)	D64G	unknown	Het
Dhx34	A	G	7: 15,949,367 (GRCm39)	S354P	possibly damaging	Het
Ecm2	A	T	13: 49,676,263 (GRCm39)	I327F	possibly damaging	Het
Elavl3	T	C	9: 21,937,614 (GRCm39)	K189E	possibly damaging	Het
Enam	A	T	5: 88,636,593 (GRCm39)	R82*	probably null	Het
Erf	A	G	7: 24,945,636 (GRCm39)	V45A	probably damaging	Het
Fat3	T	A	9: 15,932,626 (GRCm39)	I1436F	probably benign	Het
Flnc	T	C	6: 29,447,889 (GRCm39)	Y1231H	probably damaging	Het
Ggta1	T	A	2: 35,292,803 (GRCm39)	H180L	possibly damaging	Het
Grin2c	T	C	11: 115,151,616 (GRCm39)	T115A	probably damaging	Het
H6pd	C	T	4: 150,067,235 (GRCm39)	V384M	possibly damaging	Het
Hba-x	A	G	11: 32,227,008 (GRCm39)	E39G	probably benign	Het
Hnrnpul2	C	T	19: 8,807,191 (GRCm39)	P618S	probably benign	Het
Hpse2	C	T	19: 42,777,396 (GRCm39)	R590H	probably damaging	Het
Ighv1-54	C	A	12: 115,157,423 (GRCm39)	G75C	probably damaging	Het
Ighv8-11	C	A	12: 115,530,774 (GRCm39)	R118L	possibly damaging	Het
Iqcm	A	T	8: 76,615,228 (GRCm39)	R436S	possibly damaging	Het
Islr	T	C	9: 58,064,889 (GRCm39)	D206G	probably damaging	Het
Itih1	A	G	14: 30,658,658 (GRCm39)		probably null	Het
Jam2	G	A	16: 84,598,490 (GRCm39)	D34N	probably benign	Het
Klhl14	A	T	18: 21,691,029 (GRCm39)		probably null	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lrrc66	A	G	5: 73,765,910 (GRCm39)	F378L	probably benign	Het
Map10	T	A	8: 126,397,431 (GRCm39)	Y275N	probably damaging	Het
Mpi	T	C	9: 57,452,590 (GRCm39)	Y314C	probably damaging	Het
Mpp3	A	G	11: 101,915,962 (GRCm39)	Y55H	probably benign	Het
Nectin4	T	C	1: 171,212,383 (GRCm39)	V327A	possibly damaging	Het
Nlrp12	T	A	7: 3,289,072 (GRCm39)	D480V	probably damaging	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,071,594 (GRCm39)		probably benign	Het
Notch2	A	T	3: 98,009,735 (GRCm39)	Y554F	probably damaging	Het
Nrsn2	T	C	2: 152,211,531 (GRCm39)	K167E	probably benign	Het
Olr1	T	A	6: 129,470,559 (GRCm39)	K203*	probably null	Het
Or14j8	A	T	17: 38,262,962 (GRCm39)	S318T	probably benign	Het
Or2ag13	T	A	7: 106,473,177 (GRCm39)	I92F	probably damaging	Het
Or5b117	T	C	19: 13,431,885 (GRCm39)		probably null	Het
Or8b3	A	T	9: 38,314,764 (GRCm39)	N195I	probably damaging	Het
Or9i2	T	A	19: 13,815,643 (GRCm39)	E298V	probably damaging	Het
Osbpl9	T	C	4: 108,925,564 (GRCm39)	N485S	probably benign	Het
Pbk	T	A	14: 66,052,650 (GRCm39)	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,754,874 (GRCm39)	N10K	probably damaging	Het
Pik3ca	A	G	3: 32,491,312 (GRCm39)	D133G	probably damaging	Het
Pramel27	G	T	4: 143,579,873 (GRCm39)	R486L	probably benign	Het
Prl6a1	A	T	13: 27,502,983 (GRCm39)	D193V	probably damaging	Het
Rad21	G	T	15: 51,831,896 (GRCm39)	P395Q	probably damaging	Het
Reps1	T	A	10: 17,999,373 (GRCm39)	I720N	probably damaging	Het
Rpn2	T	C	2: 157,159,964 (GRCm39)		probably null	Het
Rreb1	G	A	13: 38,115,034 (GRCm39)	V798M	possibly damaging	Het
Sardh	C	T	2: 27,134,489 (GRCm39)	R9H	probably benign	Het
Scgb3a2	C	T	18: 43,899,819 (GRCm39)	P36S	probably damaging	Het
Scn10a	C	A	9: 119,523,375 (GRCm39)	G6V	possibly damaging	Het
Scn10a	C	T	9: 119,523,376 (GRCm39)	G6R	possibly damaging	Het
Scn3a	T	C	2: 65,291,376 (GRCm39)	D1790G	probably damaging	Het
Sec24b	A	T	3: 129,777,619 (GRCm39)	H1226Q	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc12a3	G	A	8: 95,078,438 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
Tex52	A	T	6: 128,361,951 (GRCm39)		probably null	Het
Tma16	A	C	8: 66,934,129 (GRCm39)	C75W	probably damaging	Het
Tmem67	G	A	4: 12,089,416 (GRCm39)		probably benign	Het
Trgv4	T	C	13: 19,369,236 (GRCm39)	V29A	probably benign	Het
Trmt10a	A	T	3: 137,854,146 (GRCm39)	K75*	probably null	Het
Ttc3	T	C	16: 94,191,142 (GRCm39)	V228A	probably benign	Het
Ttn	T	C	2: 76,561,644 (GRCm39)	D28954G	probably damaging	Het
Uggt2	A	G	14: 119,273,376 (GRCm39)		probably null	Het
Vars1	T	A	17: 35,234,702 (GRCm39)	V1177E	probably benign	Het
Vmn1r59	T	C	7: 5,457,532 (GRCm39)	D76G	possibly damaging	Het
Vmn2r114	G	T	17: 23,527,008 (GRCm39)	A508E	probably benign	Het
Vps41	G	A	13: 19,013,425 (GRCm39)	V348M	probably damaging	Het
Zbtb43	T	C	2: 33,343,944 (GRCm39)	H427R	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
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
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'- GAGCAGCTGACACAACAATG -3'
(R):5'- ATCAGAGTCGTCAAACTGTTCC -3'

Sequencing Primer
(F):5'- GAGCAGCTGACACAACAATGACAAG -3'
(R):5'- GTCGTCAAACTGTTCCATAATAACC -3'

Posted On

2016-03-01