Mutagenetix > Incidental Mutation

Incidental Mutation 'R1854:Atp2b2'

205917

Institutional Source

Beutler Lab

Gene Symbol

Atp2b2

Ensembl Gene

ENSMUSG00000030302

Gene Name

ATPase, Ca++ transporting, plasma membrane 2

Synonyms

PMCA2, Gena300, wms, D6Abb2e, jog, Tmy

MMRRC Submission

039878-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R1854 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113720803-114019574 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 113819244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 16 (N16K)

Ref Sequence

ENSEMBL: ENSMUSP00000138165 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089003] [ENSMUST00000101044] [ENSMUST00000101045] [ENSMUST00000152831] [ENSMUST00000205052]

AlphaFold

Q9R0K7

Predicted Effect

probably benign
Transcript: ENSMUST00000089003
AA Change: N16K

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

SMART Domains

Protein: ENSMUSP00000086398
Gene: ENSMUSG00000030302
AA Change: N16K

Domain	Start	End	E-Value	Type
Cation_ATPase_N	47	123	1.21e-4	SMART
Pfam:E1-E2_ATPase	156	444	1.7e-56	PFAM
Pfam:Hydrolase	448	787	3.9e-25	PFAM
Pfam:HAD	451	784	2.4e-16	PFAM
Pfam:Hydrolase_like2	497	593	9.4e-17	PFAM
Pfam:Hydrolase_3	745	820	1.7e-6	PFAM
transmembrane domain	833	855	N/A	INTRINSIC
Pfam:Cation_ATPase_C	857	1039	7.3e-46	PFAM
low complexity region	1057	1070	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1081	1144	1.4e-31	PFAM
low complexity region	1151	1166	N/A	INTRINSIC
low complexity region	1175	1189	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101044
AA Change: N16K

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000098605
Gene: ENSMUSG00000030302
AA Change: N16K

Domain	Start	End	E-Value	Type
Cation_ATPase_N	47	123	1.21e-4	SMART
Pfam:E1-E2_ATPase	155	307	4.2e-28	PFAM
low complexity region	313	330	N/A	INTRINSIC
low complexity region	337	356	N/A	INTRINSIC
Pfam:E1-E2_ATPase	373	488	1.4e-13	PFAM
Pfam:Hydrolase	493	832	8.1e-16	PFAM
Pfam:HAD	496	829	6.3e-21	PFAM
Pfam:Cation_ATPase	542	638	4.4e-17	PFAM
Pfam:Hydrolase_3	791	865	8.3e-7	PFAM
transmembrane domain	878	900	N/A	INTRINSIC
Pfam:Cation_ATPase_C	902	1084	2.5e-47	PFAM
low complexity region	1102	1115	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1126	1178	2.4e-30	PFAM
low complexity region	1196	1211	N/A	INTRINSIC
low complexity region	1220	1234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101045
AA Change: N16K

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

SMART Domains

Protein: ENSMUSP00000098606
Gene: ENSMUSG00000030302
AA Change: N16K

Domain	Start	End	E-Value	Type
Cation_ATPase_N	47	123	1.21e-4	SMART
Pfam:E1-E2_ATPase	156	444	1.7e-56	PFAM
Pfam:Hydrolase	448	787	3.9e-25	PFAM
Pfam:HAD	451	784	2.4e-16	PFAM
Pfam:Hydrolase_like2	497	593	9.4e-17	PFAM
Pfam:Hydrolase_3	745	820	1.7e-6	PFAM
transmembrane domain	833	855	N/A	INTRINSIC
Pfam:Cation_ATPase_C	857	1039	7.3e-46	PFAM
low complexity region	1057	1070	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1081	1144	1.4e-31	PFAM
low complexity region	1151	1166	N/A	INTRINSIC
low complexity region	1175	1189	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144507

Predicted Effect

probably damaging
Transcript: ENSMUST00000152831
AA Change: N16K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138165
Gene: ENSMUSG00000030302
AA Change: N16K

Domain	Start	End	E-Value	Type
Cation_ATPase_N	47	123	1.21e-4	SMART
Pfam:E1-E2_ATPase	156	444	6.1e-57	PFAM
Pfam:Hydrolase	448	787	1.4e-25	PFAM
Pfam:HAD	451	784	7.7e-17	PFAM
Pfam:Hydrolase_like2	497	593	4.4e-17	PFAM
Pfam:Hydrolase_3	745	820	4.2e-7	PFAM
transmembrane domain	833	855	N/A	INTRINSIC
Pfam:Cation_ATPase_C	857	1039	2.7e-46	PFAM
low complexity region	1057	1070	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1081	1149	1.3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154738

Predicted Effect

probably damaging
Transcript: ENSMUST00000205052
AA Change: N16K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000145174
Gene: ENSMUSG00000030302
AA Change: N16K

Domain	Start	End	E-Value	Type
Cation_ATPase_N	47	123	1.21e-4	SMART
Pfam:E1-E2_ATPase	155	310	1.9e-28	PFAM
Pfam:E1-E2_ATPase	328	443	1.1e-13	PFAM
Pfam:HAD	451	780	2.7e-19	PFAM
Pfam:Cation_ATPase	497	593	5.8e-17	PFAM
Pfam:Hydrolase	576	783	2e-8	PFAM
Pfam:Hydrolase_3	711	816	2.3e-7	PFAM
transmembrane domain	829	851	N/A	INTRINSIC
Pfam:Cation_ATPase_C	853	1035	2.5e-47	PFAM
low complexity region	1053	1066	N/A	INTRINSIC
Pfam:ATP_Ca_trans_C	1077	1129	2.6e-30	PFAM
low complexity region	1147	1162	N/A	INTRINSIC
low complexity region	1171	1185	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

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 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit slower growth, balance problems, and deafness, associated with cerebellar abnormalities, an absence of otoconia, and abnormalities of the organ of Corti. Heterozygotes exhibit appreciable age-dependent hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	T	16: 88,504,668 (GRCm39)	R43K	possibly damaging	Het
Acp1	A	G	12: 30,947,804 (GRCm39)	I78T	possibly damaging	Het
Afap1l1	G	T	18: 61,876,365 (GRCm39)	D417E	probably benign	Het
Agap2	G	A	10: 126,916,385 (GRCm39)	V299I	unknown	Het
Ahnak	C	T	19: 8,991,196 (GRCm39)	A4160V	possibly damaging	Het
Anapc1	T	C	2: 128,517,810 (GRCm39)	E278G	probably damaging	Het
Atad2	G	A	15: 57,960,685 (GRCm39)	P971L	possibly damaging	Het
Atg2a	A	G	19: 6,302,461 (GRCm39)	E928G	probably benign	Het
Atp6ap1l	T	C	13: 91,031,707 (GRCm39)	E325G	probably damaging	Het
Bfsp2	C	T	9: 103,327,030 (GRCm39)	G236S	probably benign	Het
Ccar1	A	T	10: 62,600,296 (GRCm39)	I545N	probably damaging	Het
Ccser2	A	G	14: 36,640,548 (GRCm39)	C11R	possibly damaging	Het
Cdc42bpg	A	T	19: 6,370,837 (GRCm39)	H1310L	possibly damaging	Het
Ces1h	T	C	8: 94,085,450 (GRCm39)	K339E	probably benign	Het
Cfap91	T	C	16: 38,144,659 (GRCm39)		probably null	Het
Cit	A	G	5: 116,011,960 (GRCm39)	Y189C	probably damaging	Het
Cnih3	C	A	1: 181,282,186 (GRCm39)	S140*	probably null	Het
Cntrl	A	G	2: 35,012,696 (GRCm39)	D278G	probably damaging	Het
Col24a1	G	A	3: 145,164,895 (GRCm39)	G1033D	probably damaging	Het
Col6a1	T	G	10: 76,557,783 (GRCm39)	Y151S	probably damaging	Het
Col6a2	T	A	10: 76,450,646 (GRCm39)	Q95L	probably damaging	Het
Cpd	G	T	11: 76,677,164 (GRCm39)	P1185Q	probably damaging	Het
Cycs	T	A	6: 50,542,309 (GRCm39)	I76F	possibly damaging	Het
Cyp4f16	T	A	17: 32,756,073 (GRCm39)	I34N	probably damaging	Het
Ddx1	A	C	12: 13,279,332 (GRCm39)	S436A	probably benign	Het
Defa30	A	G	8: 21,625,500 (GRCm39)	Y88C	probably damaging	Het
Dhx30	G	A	9: 109,917,740 (GRCm39)	L317F	probably damaging	Het
Dll3	C	A	7: 27,995,835 (GRCm39)	G322V	probably damaging	Het
Dnah10	G	A	5: 124,881,753 (GRCm39)	D2843N	probably damaging	Het
Dnaja3	C	T	16: 4,515,133 (GRCm39)	T266I	probably damaging	Het
Dpp9	T	C	17: 56,509,885 (GRCm39)	I314V	probably benign	Het
E030025P04Rik	A	G	11: 109,034,744 (GRCm39)	V48A	unknown	Het
Enpp2	C	T	15: 54,709,219 (GRCm39)	E803K	probably damaging	Het
Eri3	G	A	4: 117,506,562 (GRCm39)	G297D	probably benign	Het
Esp34	A	G	17: 38,870,424 (GRCm39)	E38G	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Frzb	A	G	2: 80,276,724 (GRCm39)	V154A	possibly damaging	Het
Fsip2	G	T	2: 82,823,601 (GRCm39)	A6445S	possibly damaging	Het
Gm11938	G	A	11: 99,493,843 (GRCm39)	T84I	possibly damaging	Het
Gm4787	T	A	12: 81,425,108 (GRCm39)	H350L	probably damaging	Het
Gpa33	A	G	1: 165,992,759 (GRCm39)	I291V	probably benign	Het
Gpr158	A	G	2: 21,373,935 (GRCm39)	Y290C	probably damaging	Het
Gpsm1	G	T	2: 26,234,725 (GRCm39)	G84W	probably damaging	Het
Hormad1	A	G	3: 95,487,317 (GRCm39)	N267S	probably benign	Het
Htr2a	A	T	14: 74,943,193 (GRCm39)	I258F	probably damaging	Het
Htra4	T	C	8: 25,523,597 (GRCm39)	T323A	probably damaging	Het
Ift140	T	A	17: 25,254,813 (GRCm39)	F162Y	probably benign	Het
Islr2	T	C	9: 58,107,099 (GRCm39)	T54A	probably damaging	Het
Kcna4	T	G	2: 107,126,829 (GRCm39)	V521G	probably damaging	Het
Kdr	C	T	5: 76,113,565 (GRCm39)	G768S	possibly damaging	Het
Kif6	G	T	17: 50,208,799 (GRCm39)	A740S	probably benign	Het
Lad1	T	A	1: 135,755,468 (GRCm39)	V248E	probably damaging	Het
Lamb1	T	G	12: 31,368,271 (GRCm39)	C1134G	probably damaging	Het
Lamc1	A	G	1: 153,125,618 (GRCm39)	Y552H	probably damaging	Het
Mctp1	A	T	13: 76,973,860 (GRCm39)	T706S	probably damaging	Het
Med12l	A	G	3: 59,168,193 (GRCm39)	Y1541C	probably damaging	Het
Mnx1	C	T	5: 29,682,780 (GRCm39)	S165N	unknown	Het
Morn3	A	T	5: 123,184,692 (GRCm39)		probably null	Het
Nalcn	C	T	14: 123,697,824 (GRCm39)	R484Q	probably damaging	Het
Nr4a1	T	C	15: 101,169,645 (GRCm39)	I305T	probably benign	Het
Or1j11	C	T	2: 36,311,886 (GRCm39)	H159Y	probably damaging	Het
Or2z2	G	A	11: 58,346,257 (GRCm39)	R173W	probably damaging	Het
Pabir2	T	A	X: 52,342,933 (GRCm39)	Q201H	probably benign	Het
Pcdhb5	T	C	18: 37,455,393 (GRCm39)	V591A	possibly damaging	Het
Pdia3	T	C	2: 121,262,144 (GRCm39)	I205T	probably benign	Het
Pdia4	A	T	6: 47,790,161 (GRCm39)	D26E	unknown	Het
Phactr3	C	A	2: 177,924,940 (GRCm39)	L292M	probably damaging	Het
Phf21b	T	A	15: 84,738,963 (GRCm39)	I21F	probably benign	Het
Pign	A	G	1: 105,482,223 (GRCm39)	V791A	probably damaging	Het
Pitpna	A	G	11: 75,499,929 (GRCm39)		probably null	Het
Piwil1	G	T	5: 128,824,903 (GRCm39)	E534*	probably null	Het
Plcz1	T	A	6: 139,938,775 (GRCm39)	I526F	probably benign	Het
Pms2	A	T	5: 143,862,714 (GRCm39)	K607I	probably benign	Het
Pnn	T	A	12: 59,118,399 (GRCm39)	N327K	probably damaging	Het
Pogz	C	T	3: 94,786,160 (GRCm39)	T863I	probably benign	Het
Polq	C	T	16: 36,882,471 (GRCm39)	T1545I	probably benign	Het
Psd4	G	A	2: 24,287,468 (GRCm39)	E467K	probably benign	Het
Pstpip2	T	A	18: 77,959,499 (GRCm39)	L198Q	probably damaging	Het
Pzp	T	C	6: 128,479,188 (GRCm39)	Y655C	probably damaging	Het
Qrsl1	C	T	10: 43,770,541 (GRCm39)	G117E	probably damaging	Het
Rad54b	G	A	4: 11,601,669 (GRCm39)	C408Y	probably damaging	Het
Ralb	T	A	1: 119,403,797 (GRCm39)	Q110L	possibly damaging	Het
Rrm2	A	G	12: 24,763,151 (GRCm39)	K218E	probably damaging	Het
Siglece	A	G	7: 43,309,360 (GRCm39)	F66S	probably benign	Het
Slc17a8	A	T	10: 89,442,627 (GRCm39)	C69S	unknown	Het
Slc1a6	T	A	10: 78,648,758 (GRCm39)	V493E	probably damaging	Het
Slc38a11	A	T	2: 65,193,860 (GRCm39)		probably null	Het
Smarcal1	G	A	1: 72,625,258 (GRCm39)	G135D	possibly damaging	Het
Snrnp70	T	A	7: 45,026,644 (GRCm39)	R242*	probably null	Het
St3gal5	T	C	6: 72,109,077 (GRCm39)	L55P	probably damaging	Het
Sulf1	A	G	1: 12,908,661 (GRCm39)	N558S	probably benign	Het
Supt6	T	C	11: 78,123,366 (GRCm39)	I104V	possibly damaging	Het
Tas2r113	T	A	6: 132,870,292 (GRCm39)	Y107N	probably damaging	Het
Tcf7	A	G	11: 52,147,891 (GRCm39)	V187A	probably benign	Het
Tdrd9	G	A	12: 112,011,246 (GRCm39)	G1152R	probably damaging	Het
Tfpi	A	G	2: 84,288,451 (GRCm39)	Y9H	probably benign	Het
Tnk2	G	A	16: 32,498,960 (GRCm39)	V758I	probably damaging	Het
Trim72	A	G	7: 127,608,254 (GRCm39)	I251V	probably benign	Het
Trip12	T	A	1: 84,705,866 (GRCm39)	N655Y	probably damaging	Het
Ttn	A	G	2: 76,581,773 (GRCm39)	V23040A	probably damaging	Het
Tulp2	T	A	7: 45,167,367 (GRCm39)	N188K	probably damaging	Het
Ube2c	C	T	2: 164,613,282 (GRCm39)	H67Y	probably damaging	Het
Unc80	C	A	1: 66,670,573 (GRCm39)	P1899T	possibly damaging	Het
Usp34	C	T	11: 23,376,153 (GRCm39)	A1879V	probably benign	Het
Vmn2r118	G	A	17: 55,918,556 (GRCm39)	S112L	possibly damaging	Het
Wdfy3	A	T	5: 102,036,052 (GRCm39)	V2122E	probably benign	Het
Zcchc4	A	G	5: 52,973,168 (GRCm39)	Y344C	probably damaging	Het
Zdbf2	GAAAAA	GAAAAAA	1: 63,344,701 (GRCm39)		probably null	Het
Zdhhc25	A	T	15: 88,484,689 (GRCm39)	H8L	probably benign	Het
Zfp455	A	T	13: 67,355,881 (GRCm39)	H383L	probably damaging	Het
Zfp663	A	G	2: 165,195,211 (GRCm39)	I336T	probably benign	Het
Zfp738	T	A	13: 67,818,476 (GRCm39)	H505L	probably damaging	Het
Zfp84	T	G	7: 29,474,796 (GRCm39)	F23V	possibly damaging	Het

Other mutations in Atp2b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00802:Atp2b2	APN	6	113,782,476 (GRCm39)	missense	possibly damaging	0.69
IGL01140:Atp2b2	APN	6	113,766,932 (GRCm39)	missense	possibly damaging	0.94
IGL02065:Atp2b2	APN	6	113,790,828 (GRCm39)	missense	probably damaging	1.00
IGL02267:Atp2b2	APN	6	113,770,691 (GRCm39)	missense	probably damaging	1.00
IGL02383:Atp2b2	APN	6	113,790,903 (GRCm39)	missense	probably damaging	0.99
IGL02498:Atp2b2	APN	6	113,770,815 (GRCm39)	missense	probably damaging	0.99
IGL02631:Atp2b2	APN	6	113,725,506 (GRCm39)	missense	probably damaging	1.00
IGL03028:Atp2b2	APN	6	113,736,103 (GRCm39)	missense	probably damaging	0.99
IGL03221:Atp2b2	APN	6	113,737,820 (GRCm39)	splice site	probably benign
IGL03290:Atp2b2	APN	6	113,770,715 (GRCm39)	missense	probably damaging	1.00
johan	UTSW	6	113,750,349 (GRCm39)	missense	probably damaging	1.00
lohan	UTSW	6	113,737,611 (GRCm39)	missense	probably damaging	1.00
IGL02799:Atp2b2	UTSW	6	113,739,813 (GRCm39)	nonsense	probably null
R0116:Atp2b2	UTSW	6	113,770,656 (GRCm39)	missense	probably damaging	1.00
R0131:Atp2b2	UTSW	6	113,770,743 (GRCm39)	missense	probably damaging	1.00
R0131:Atp2b2	UTSW	6	113,770,743 (GRCm39)	missense	probably damaging	1.00
R0132:Atp2b2	UTSW	6	113,770,743 (GRCm39)	missense	probably damaging	1.00
R0195:Atp2b2	UTSW	6	113,770,835 (GRCm39)	missense	probably benign	0.07
R0421:Atp2b2	UTSW	6	113,790,849 (GRCm39)	missense	probably damaging	1.00
R0791:Atp2b2	UTSW	6	113,750,349 (GRCm39)	missense	probably damaging	1.00
R0792:Atp2b2	UTSW	6	113,750,349 (GRCm39)	missense	probably damaging	1.00
R1033:Atp2b2	UTSW	6	113,770,849 (GRCm39)	splice site	probably null
R1248:Atp2b2	UTSW	6	113,794,153 (GRCm39)	missense	probably damaging	1.00
R1524:Atp2b2	UTSW	6	113,751,162 (GRCm39)	splice site	probably benign
R1809:Atp2b2	UTSW	6	113,780,704 (GRCm39)	intron	probably benign
R1829:Atp2b2	UTSW	6	113,750,329 (GRCm39)	missense	probably damaging	1.00
R2127:Atp2b2	UTSW	6	113,737,611 (GRCm39)	missense	probably damaging	1.00
R2138:Atp2b2	UTSW	6	113,773,268 (GRCm39)	missense	probably benign	0.21
R2351:Atp2b2	UTSW	6	113,766,718 (GRCm39)	missense	possibly damaging	0.91
R3923:Atp2b2	UTSW	6	113,774,069 (GRCm39)	critical splice donor site	probably null
R3951:Atp2b2	UTSW	6	113,737,792 (GRCm39)	missense	possibly damaging	0.51
R4178:Atp2b2	UTSW	6	113,770,679 (GRCm39)	missense	probably damaging	1.00
R4353:Atp2b2	UTSW	6	113,742,745 (GRCm39)	missense	probably benign	0.01
R4578:Atp2b2	UTSW	6	113,737,672 (GRCm39)	missense	probably damaging	1.00
R4797:Atp2b2	UTSW	6	113,766,847 (GRCm39)	missense	possibly damaging	0.92
R4884:Atp2b2	UTSW	6	113,819,147 (GRCm39)	missense	possibly damaging	0.65
R4976:Atp2b2	UTSW	6	113,736,122 (GRCm39)	missense	probably damaging	1.00
R5273:Atp2b2	UTSW	6	113,736,193 (GRCm39)	missense	probably damaging	1.00
R5350:Atp2b2	UTSW	6	113,736,199 (GRCm39)	missense	probably damaging	0.99
R5414:Atp2b2	UTSW	6	113,819,102 (GRCm39)	missense	probably damaging	1.00
R5560:Atp2b2	UTSW	6	113,751,319 (GRCm39)	missense	possibly damaging	0.90
R5589:Atp2b2	UTSW	6	113,751,400 (GRCm39)	missense	possibly damaging	0.94
R5790:Atp2b2	UTSW	6	113,736,270 (GRCm39)	missense	probably damaging	0.97
R6001:Atp2b2	UTSW	6	113,770,728 (GRCm39)	missense	probably damaging	1.00
R6127:Atp2b2	UTSW	6	113,790,838 (GRCm39)	missense	probably damaging	1.00
R6331:Atp2b2	UTSW	6	113,774,092 (GRCm39)	missense	probably benign	0.01
R6925:Atp2b2	UTSW	6	113,737,681 (GRCm39)	missense	probably damaging	1.00
R7231:Atp2b2	UTSW	6	113,742,693 (GRCm39)	missense	possibly damaging	0.89
R8219:Atp2b2	UTSW	6	113,770,811 (GRCm39)	missense	probably damaging	1.00
R8233:Atp2b2	UTSW	6	113,742,680 (GRCm39)	critical splice donor site	probably null
R8286:Atp2b2	UTSW	6	113,819,275 (GRCm39)	missense	possibly damaging	0.64
R8369:Atp2b2	UTSW	6	113,790,747 (GRCm39)	critical splice donor site	probably null
R8444:Atp2b2	UTSW	6	113,770,772 (GRCm39)	missense	probably benign	0.18
R8942:Atp2b2	UTSW	6	113,790,991 (GRCm39)	missense	probably benign	0.00
R8953:Atp2b2	UTSW	6	113,737,630 (GRCm39)	missense	possibly damaging	0.82
R8977:Atp2b2	UTSW	6	113,750,325 (GRCm39)	missense	probably damaging	1.00
R9051:Atp2b2	UTSW	6	113,740,566 (GRCm39)	missense	probably damaging	1.00
R9399:Atp2b2	UTSW	6	113,780,713 (GRCm39)	missense	probably benign
R9648:Atp2b2	UTSW	6	113,780,707 (GRCm39)	critical splice donor site	probably null
X0020:Atp2b2	UTSW	6	113,782,461 (GRCm39)	missense	probably damaging	1.00
X0020:Atp2b2	UTSW	6	113,782,460 (GRCm39)	missense	probably damaging	1.00
Z1088:Atp2b2	UTSW	6	113,819,267 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAGACTTCATGGACACAGACCC -3'
(R):5'- TCCTGGGACTCGAAGTTGAC -3'

Sequencing Primer
(F):5'- TTCATGGACACAGACCCTGGAG -3'
(R):5'- AAGTTGACCGCCTCGTGCTAC -3'

Posted On

2014-06-23