Mutagenetix > Incidental Mutation

Incidental Mutation 'R2920:Atp2b3'

255498

Institutional Source

Beutler Lab

Gene Symbol

Atp2b3

Ensembl Gene

ENSMUSG00000031376

Gene Name

ATPase, Ca++ transporting, plasma membrane 3

Synonyms

6430519O13Rik, Pmca3

MMRRC Submission

040505-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2920 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

72546692-72614611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 72577526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 318 (T318P)

Ref Sequence

ENSEMBL: ENSMUSP00000085775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033744] [ENSMUST00000088429] [ENSMUST00000114479]

AlphaFold

Q0VF55

Predicted Effect

probably benign
Transcript: ENSMUST00000033744
AA Change: T318P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033744
Gene: ENSMUSG00000031376
AA Change: T318P

Domain	Start	End	E-Value	Type
Cation_ATPase_N	50	126	1.39e-4	SMART
Pfam:E1-E2_ATPase	159	463	3.3e-58	PFAM
Pfam:Hydrolase	467	806	2.1e-27	PFAM
Pfam:HAD	470	803	2.4e-17	PFAM
Pfam:Hydrolase_like2	516	612	2.4e-17	PFAM
Pfam:Hydrolase_3	764	839	7.4e-7	PFAM
transmembrane domain	852	874	N/A	INTRINSIC
Pfam:Cation_ATPase_C	876	1058	2.4e-47	PFAM
low complexity region	1076	1096	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1100	1115	1.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088429
AA Change: T318P

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000085775
Gene: ENSMUSG00000031376
AA Change: T318P

Domain	Start	End	E-Value	Type
Cation_ATPase_N	50	126	1.39e-4	SMART
Pfam:E1-E2_ATPase	158	310	1.8e-29	PFAM
Pfam:E1-E2_ATPase	348	462	3e-13	PFAM
Pfam:Hydrolase	467	806	1.3e-16	PFAM
Pfam:HAD	470	803	3.8e-21	PFAM
Pfam:Cation_ATPase	516	612	7.9e-18	PFAM
Pfam:Hydrolase_3	764	839	5.4e-7	PFAM
transmembrane domain	852	874	N/A	INTRINSIC
Pfam:Cation_ATPase_C	876	1058	1.5e-48	PFAM
low complexity region	1076	1096	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1100	1152	4.1e-27	PFAM
low complexity region	1174	1184	N/A	INTRINSIC
low complexity region	1193	1207	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114479
AA Change: T318P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110123
Gene: ENSMUSG00000031376
AA Change: T318P

Domain	Start	End	E-Value	Type
Cation_ATPase_N	50	126	1.39e-4	SMART
Pfam:E1-E2_ATPase	159	463	4.1e-58	PFAM
Pfam:Hydrolase	467	806	4.9e-27	PFAM
Pfam:HAD	470	803	4.7e-17	PFAM
Pfam:Hydrolase_like2	516	612	1.8e-17	PFAM
Pfam:Hydrolase_3	764	839	2.1e-6	PFAM
transmembrane domain	852	874	N/A	INTRINSIC
Pfam:Cation_ATPase_C	876	1058	2.3e-47	PFAM
low complexity region	1076	1096	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1100	1163	2.4e-15	PFAM

Meta Mutation Damage Score

0.0845

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

96% (48/50)

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 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,265,987 (GRCm39)	Y1025H	probably damaging	Het
Adgrv1	C	T	13: 81,596,984 (GRCm39)	A4122T	probably benign	Het
Aloxe3	C	T	11: 69,033,749 (GRCm39)	T621I	probably damaging	Het
Atrx	A	T	X: 104,874,474 (GRCm39)	V1962D	probably benign	Het
Chl1	C	A	6: 103,672,304 (GRCm39)	T531K	probably damaging	Het
Clca3b	T	A	3: 144,543,614 (GRCm39)	D405V	probably benign	Het
Clca3b	C	T	3: 144,552,692 (GRCm39)	D115N	probably benign	Het
Comtd1	A	G	14: 21,897,686 (GRCm39)	L149P	possibly damaging	Het
Cops7a	A	G	6: 124,939,325 (GRCm39)	V108A	probably benign	Het
Crebbp	A	G	16: 3,936,946 (GRCm39)	V343A	probably damaging	Het
Edrf1	T	A	7: 133,269,301 (GRCm39)	D1109E	probably benign	Het
Elmo3	A	G	8: 106,034,691 (GRCm39)	E359G	possibly damaging	Het
Ep400	C	A	5: 110,903,780 (GRCm39)	G273V	probably damaging	Het
Fgfr3	A	G	5: 33,891,284 (GRCm39)	N516S	probably damaging	Het
Glb1l	T	A	1: 75,185,834 (GRCm39)	E31D	probably benign	Het
Hdac1-ps	A	G	17: 78,800,275 (GRCm39)	D422G	probably damaging	Het
Il12rb2	C	T	6: 67,337,552 (GRCm39)	V110I	probably damaging	Het
Ints3	T	C	3: 90,300,469 (GRCm39)	E884G	probably benign	Het
Lin7b	A	G	7: 45,017,821 (GRCm39)	V170A	possibly damaging	Het
Lrch2	A	T	X: 146,256,026 (GRCm39)	V750E	probably damaging	Het
Mepe	C	T	5: 104,486,113 (GRCm39)	R418C	probably damaging	Het
Mettl25	A	T	10: 105,601,038 (GRCm39)		probably null	Het
Mphosph9	G	A	5: 124,399,069 (GRCm39)	T982I	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myo10	G	T	15: 25,801,226 (GRCm39)	V1472L	probably damaging	Het
Myo9b	A	G	8: 71,778,501 (GRCm39)	K445R	probably damaging	Het
Ntng2	T	C	2: 29,094,223 (GRCm39)	M383V	probably benign	Het
Or13n4	C	T	7: 106,423,571 (GRCm39)	R54Q	probably benign	Het
Or2z2	T	C	11: 58,346,403 (GRCm39)	Y124C	probably damaging	Het
Or7a37	A	C	10: 78,805,846 (GRCm39)	D121A	probably damaging	Het
Pak6	A	T	2: 118,524,488 (GRCm39)		probably benign	Het
Pcdh8	G	T	14: 80,006,154 (GRCm39)	P803Q	possibly damaging	Het
Pfkfb3	C	T	2: 11,489,138 (GRCm39)	V286I	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rint1	A	G	5: 24,010,400 (GRCm39)	E203G	probably benign	Het
Sdf2	G	C	11: 78,145,680 (GRCm39)	V126L	probably damaging	Het
Slc13a5	T	C	11: 72,138,617 (GRCm39)	E442G	possibly damaging	Het
Slc14a2	G	T	18: 78,201,512 (GRCm39)	S669*	probably null	Het
Slc38a7	A	G	8: 96,572,571 (GRCm39)	I157T	possibly damaging	Het
Slc4a5	T	C	6: 83,241,369 (GRCm39)	L215P	probably damaging	Het
Tbc1d9	T	C	8: 83,937,098 (GRCm39)	V60A	probably benign	Het
Tcerg1l	T	C	7: 137,850,108 (GRCm39)	R422G	probably damaging	Het
Tmem107	T	C	11: 68,962,247 (GRCm39)	L68P	probably damaging	Het
Ugt2b5	A	G	5: 87,273,266 (GRCm39)	F467L	possibly damaging	Het
Vmn1r19	A	T	6: 57,381,909 (GRCm39)	N154I	probably benign	Het
Vmn2r69	T	A	7: 85,060,973 (GRCm39)	I204L	probably benign	Het
Zbtb1	T	A	12: 76,432,619 (GRCm39)	S202T	possibly damaging	Het

Other mutations in Atp2b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01657:Atp2b3	APN	X	72,588,966 (GRCm39)	splice site	probably benign
IGL02640:Atp2b3	APN	X	72,585,811 (GRCm39)	missense	probably benign
R1518:Atp2b3	UTSW	X	72,588,729 (GRCm39)	small deletion	probably benign
R1571:Atp2b3	UTSW	X	72,588,712 (GRCm39)	missense	probably damaging	1.00
R4214:Atp2b3	UTSW	X	72,613,921 (GRCm39)	missense	probably benign	0.00
X0004:Atp2b3	UTSW	X	72,579,100 (GRCm39)	missense	probably damaging	0.99
Z1176:Atp2b3	UTSW	X	72,579,030 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GGTCAGAACTGCCAGCAATTG -3'
(R):5'- TGCCTTGGTAGCAGGTAGTC -3'

Sequencing Primer
(F):5'- CCAGCAATTGGGCATCTCC -3'
(R):5'- TTGGTAGCAGGTAGTCCCTCC -3'

Posted On

2014-12-29