Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02706:Ppp3ca'

304334

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp3ca

Ensembl Gene

ENSMUSG00000028161

Gene Name

protein phosphatase 3, catalytic subunit, alpha isoform

Synonyms

Caln, PP2BA alpha, 2900074D19Rik, PP2B alpha 1, Calna, CnA, CN

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02706

Quality Score

Status

Chromosome

Chromosomal Location

136670124-136937727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 136905318 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 367 (N367K)

Ref Sequence

ENSEMBL: ENSMUSP00000071040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056758] [ENSMUST00000070198]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056758
AA Change: N367K

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053101
Gene: ENSMUSG00000028161
AA Change: N367K

Domain	Start	End	E-Value	Type
PP2Ac	56	347	2.91e-162	SMART
low complexity region	507	519	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070198
AA Change: N367K

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071040
Gene: ENSMUSG00000028161
AA Change: N367K

Domain	Start	End	E-Value	Type
PP2Ac	56	347	2.91e-162	SMART
low complexity region	497	509	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130768

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit decreased T cell proliferation and abnormal mossy fibers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,298,992	E781G	probably benign	Het
Abcc8	C	T	7: 46,166,921	R265Q	probably benign	Het
Agtr1b	A	T	3: 20,315,863	I193N	probably benign	Het
Atp6v1e2	A	G	17: 86,944,934	I12T	probably damaging	Het
Cacna1g	T	C	11: 94,456,992	T757A	probably damaging	Het
Cldn15	A	G	5: 136,974,831	K200R	probably benign	Het
Dip2b	G	T	15: 100,215,311	V1302F	probably damaging	Het
Dnajb6	T	A	5: 29,752,423	Y68N	probably damaging	Het
Dok1	T	A	6: 83,032,334	E179V	probably damaging	Het
Epha4	T	C	1: 77,426,845	T342A	probably damaging	Het
Etf1	A	T	18: 34,931,637	S6R	possibly damaging	Het
Fryl	T	C	5: 73,093,163	I987V	probably benign	Het
Gba2	C	T	4: 43,567,257	G897S	probably benign	Het
Habp2	G	T	19: 56,310,138		probably null	Het
Hapln1	G	T	13: 89,605,459	S248I	possibly damaging	Het
Hydin	A	G	8: 110,410,566	D667G	probably damaging	Het
Kcnma1	T	A	14: 23,309,154	H1074L	probably damaging	Het
Kctd9	T	C	14: 67,724,681		probably null	Het
L3mbtl4	A	G	17: 68,486,919	D306G	probably damaging	Het
Lgalsl	T	C	11: 20,830,090	R49G	probably damaging	Het
Lpo	C	T	11: 87,817,773	S133N	probably benign	Het
Lrp8	A	T	4: 107,803,319	R59*	probably null	Het
Mctp1	T	C	13: 76,823,069	F629S	probably damaging	Het
Med1	A	G	11: 98,156,707		probably benign	Het
Nbea	T	C	3: 56,037,278	H555R	probably damaging	Het
Nedd1	T	C	10: 92,686,285	H630R	possibly damaging	Het
Nr3c2	A	T	8: 76,908,416		probably null	Het
Nubp2	A	T	17: 24,883,197	V267E	probably benign	Het
Oacyl	A	T	18: 65,749,721	Y629F	probably damaging	Het
Olfr1475	A	T	19: 13,480,098	Y33*	probably null	Het
Olfr353	A	G	2: 36,890,719	I43T	probably damaging	Het
Olfr54	T	A	11: 51,027,264	H87Q	probably damaging	Het
Pknox2	T	C	9: 36,936,379	H114R	probably benign	Het
Ppp2r1b	A	G	9: 50,878,834	D564G	possibly damaging	Het
Ptprn2	T	C	12: 116,888,898	V525A	probably damaging	Het
Reps1	T	G	10: 18,123,015		probably benign	Het
Rgs11	G	A	17: 26,207,631	V279I	probably benign	Het
Sipa1l1	A	G	12: 82,397,433	I973V	possibly damaging	Het
Ssh2	T	A	11: 77,453,406	V739D	possibly damaging	Het
Tbc1d24	A	G	17: 24,185,421	F250L	probably benign	Het
Ube3a	T	A	7: 59,272,133	H84Q	possibly damaging	Het
Usp34	T	C	11: 23,388,659		probably benign	Het
Zdhhc8	G	T	16: 18,224,894	L481I	probably damaging	Het
Zfp574	A	G	7: 25,081,365	H604R	probably damaging	Het
Zfp945	A	T	17: 22,857,282	M63K	probably damaging	Het

Other mutations in Ppp3ca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Ppp3ca	APN	3	136935181	missense	probably benign	0.01
IGL01405:Ppp3ca	APN	3	136868721	missense	probably benign	0.33
IGL02061:Ppp3ca	APN	3	136797863	missense	probably benign
IGL02285:Ppp3ca	APN	3	136928626	splice site	probably benign
IGL02472:Ppp3ca	APN	3	136921862	missense	possibly damaging	0.57
IGL02894:Ppp3ca	APN	3	136797812	missense	probably damaging	1.00
R0325:Ppp3ca	UTSW	3	136935139	missense	probably benign	0.15
R1072:Ppp3ca	UTSW	3	136935127	missense	probably benign
R1427:Ppp3ca	UTSW	3	136921914	missense	probably damaging	1.00
R1524:Ppp3ca	UTSW	3	136797818	missense	probably benign
R1568:Ppp3ca	UTSW	3	136928544	missense	probably benign	0.00
R1754:Ppp3ca	UTSW	3	136881448	missense	probably benign	0.20
R1800:Ppp3ca	UTSW	3	136935031	missense	probably damaging	0.98
R1844:Ppp3ca	UTSW	3	136921911	missense	probably benign	0.08
R1878:Ppp3ca	UTSW	3	136797878	missense	probably benign	0.03
R2155:Ppp3ca	UTSW	3	136890450	missense	possibly damaging	0.95
R2160:Ppp3ca	UTSW	3	136877630	missense	probably damaging	1.00
R2220:Ppp3ca	UTSW	3	136797924	missense	probably damaging	1.00
R2331:Ppp3ca	UTSW	3	136797819	missense	probably benign
R3052:Ppp3ca	UTSW	3	136797844	missense	probably benign	0.00
R3500:Ppp3ca	UTSW	3	136881512	missense	probably benign	0.00
R4764:Ppp3ca	UTSW	3	136890489	missense	probably damaging	0.99
R4974:Ppp3ca	UTSW	3	136935049	missense	possibly damaging	0.60
R5952:Ppp3ca	UTSW	3	136928571	missense	probably benign	0.08
R6051:Ppp3ca	UTSW	3	136876122	missense	probably damaging	1.00
R6395:Ppp3ca	UTSW	3	136877770	missense	possibly damaging	0.47
R6975:Ppp3ca	UTSW	3	136905301	missense	probably damaging	1.00
R7121:Ppp3ca	UTSW	3	136868626	missense	probably damaging	1.00
R7720:Ppp3ca	UTSW	3	136890489	missense	probably damaging	1.00
R7773:Ppp3ca	UTSW	3	136890461	missense	probably benign
R7828:Ppp3ca	UTSW	3	136797774	missense	probably damaging	1.00
R7830:Ppp3ca	UTSW	3	136868720	missense	probably damaging	1.00
R8108:Ppp3ca	UTSW	3	136932225	splice site	probably null
R8126:Ppp3ca	UTSW	3	136903191	missense	probably damaging	0.99
R8285:Ppp3ca	UTSW	3	136881444	missense	probably damaging	1.00
R8516:Ppp3ca	UTSW	3	136877768	missense	probably damaging	1.00
R8537:Ppp3ca	UTSW	3	136797858	missense	possibly damaging	0.89

Posted On

2015-04-16