Mutagenetix > Incidental Mutations

Incidental Mutation 'R2331:Ppp3ca'

245866

Institutional Source

Beutler Lab

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 #

R2331 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136670124-136937727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136797819 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 51 (M51T)

Ref Sequence

ENSEMBL: ENSMUSP00000071040 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000056758
AA Change: M51T

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

SMART Domains

Protein: ENSMUSP00000053101
Gene: ENSMUSG00000028161
AA Change: M51T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000070198
AA Change: M51T

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

SMART Domains

Protein: ENSMUSP00000071040
Gene: ENSMUSG00000028161
AA Change: M51T

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: ENSMUST00000124206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200068

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.4%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	C	T	1: 38,204,890		probably null	Het
Cadps	A	G	14: 12,603,692	I376T	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Gm10295	A	C	7: 71,350,689	S48A	unknown	Het
Gstcd	A	G	3: 132,998,880	C538R	probably damaging	Het
Hcn3	A	T	3: 89,148,090	S617T	probably benign	Het
Hectd4	A	G	5: 121,320,026	I752V	probably benign	Het
Itgb7	G	T	15: 102,223,548	T200K	probably damaging	Het
Lcn11	C	A	2: 25,780,176	T177K	possibly damaging	Het
Lsm14a	A	G	7: 34,357,490	V241A	probably benign	Het
Magi1	T	C	6: 93,685,562	K1075E	probably damaging	Het
Olfr1216	T	C	2: 89,013,921	I48V	probably benign	Het
Olfr1426	C	A	19: 12,088,158	L211F	probably benign	Het
P4hb	T	C	11: 120,568,280	N129S	probably benign	Het
Piezo1	C	T	8: 122,487,266		probably null	Het
Sema6d	T	C	2: 124,658,063	V353A	probably damaging	Het
Setx	GTGGCT	GT	2: 29,154,061		probably null	Het
Sh3rf1	C	T	8: 61,226,287	P121L	probably benign	Het
Sh3rf2	T	C	18: 42,053,863	F16L	probably benign	Het
Sparcl1	A	G	5: 104,085,794	L563P	probably damaging	Het
Stra6l	T	C	4: 45,858,224		probably null	Het
Sult2a6	A	T	7: 14,225,870	M246K	possibly damaging	Het
Trpv5	A	G	6: 41,659,968	S399P	probably damaging	Het
Uggt2	A	T	14: 119,026,599	F1006L	possibly damaging	Het
Uhrf1	C	A	17: 56,310,671		probably null	Het
Wdr72	A	G	9: 74,148,326	Y279C	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
IGL02706:Ppp3ca	APN	3	136905318	missense	possibly damaging	0.84
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
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

Predicted Primers

PCR Primer
(F):5'- ACTCTTGGTAGACTCTGAATGTGTG -3'
(R):5'- AAGTTGTCTGAGGGCTCACTG -3'

Sequencing Primer
(F):5'- AACAGCGTTATCTGGTTAGTGACAG -3'
(R):5'- CTCACTGGTGGGGAAGACTTATATAG -3'

Posted On

2014-10-30