Mutagenetix > Incidental Mutations

Incidental Mutation 'R8516:Ppp3ca'

656130

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136670124-136937727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136877768 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 212 (I212N)

Ref Sequence

ENSEMBL: ENSMUSP00000053101 (fasta)

Gene Model

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

AlphaFold

P63328

Predicted Effect

probably damaging
Transcript: ENSMUST00000056758
AA Change: I212N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053101
Gene: ENSMUSG00000028161
AA Change: I212N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000070198
AA Change: I212N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071040
Gene: ENSMUSG00000028161
AA Change: I212N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,373	S22T	probably benign	Het
Actr8	G	T	14: 29,990,899	A500S	probably benign	Het
Adamtsl1	A	G	4: 86,342,543	Y1005C	probably damaging	Het
Ank3	T	A	10: 69,927,729	Y884*	probably null	Het
Arhgap28	T	C	17: 67,873,073	R306G	probably benign	Het
Atp8a2	A	C	14: 59,691,472	I1044M	probably benign	Het
Bahd1	A	G	2: 118,916,971	Y357C	probably benign	Het
Btd	A	T	14: 31,666,867	T182S	probably damaging	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cisd2	T	C	3: 135,411,013	T106A	probably damaging	Het
Cldn15	G	T	5: 136,974,696	C184F	probably damaging	Het
Clk4	G	A	11: 51,275,261	R198Q	probably damaging	Het
Coprs	G	T	8: 13,885,065	F163L	probably damaging	Het
Csmd3	G	A	15: 47,629,365	R2216*	probably null	Het
Defb7	A	T	8: 19,497,607	I43F	possibly damaging	Het
Dpp8	C	A	9: 65,078,009	T783K	probably damaging	Het
Eif2s1	G	A	12: 78,881,162	G204D	probably damaging	Het
Elavl4	T	C	4: 110,251,379	N56S	probably damaging	Het
Emilin1	G	A	5: 30,917,171	R252H	probably damaging	Het
Exd1	A	T	2: 119,520,073	L569Q	probably damaging	Het
Gm498	T	A	7: 143,897,274	I342N	probably damaging	Het
Gpn2	C	T	4: 133,584,831	R125C	probably damaging	Het
Gria2	T	C	3: 80,706,987	E582G	probably benign	Het
Hadha	A	T	5: 30,126,584	V458E	probably damaging	Het
Hap1	T	C	11: 100,356,067	K4R	possibly damaging	Het
Hectd4	A	T	5: 121,349,010	H3356L	possibly damaging	Het
Herc2	G	A	7: 56,206,570	V3919I	probably benign	Het
Lgr6	G	T	1: 135,075,283	N76K	probably damaging	Het
Olfr692	A	G	7: 105,368,769	I148V	probably benign	Het
P4ha3	A	G	7: 100,314,662	M462V	probably damaging	Het
Pde3b	A	T	7: 114,526,849	M773L	probably benign	Het
Peak1	T	C	9: 56,260,000	S215G	probably damaging	Het
Pgm5	T	A	19: 24,815,710	M331L	probably benign	Het
Piwil2	A	G	14: 70,420,739	V213A	probably benign	Het
Plch2	T	C	4: 154,986,307	H1205R	probably benign	Het
Pop4	A	T	7: 38,267,402	M85K	probably benign	Het
Prom1	T	C	5: 44,007,099	K714R	probably benign	Het
Psip1	C	T	4: 83,466,715	G207S	probably benign	Het
Rgs22	A	G	15: 36,010,335	*1259Q	probably null	Het
Scn1a	C	T	2: 66,326,134	G477D	possibly damaging	Het
Sf3b1	T	C	1: 55,012,103	E222G	probably null	Het
Snrpa1	G	A	7: 66,070,633	G195R	probably benign	Het
Spem2	T	C	11: 69,816,895	R415G	possibly damaging	Het
Tmem167	T	A	13: 90,098,396	V13E	probably damaging	Het
Trim2	C	T	3: 84,208,320	A102T	probably damaging	Het
Trim30b	A	G	7: 104,357,404	S82P	probably benign	Het
Uba6	A	C	5: 86,127,748	S760R	possibly damaging	Het
Upf2	T	C	2: 6,018,971	F711L	unknown	Het
Utrn	T	A	10: 12,486,510	D2693V	probably damaging	Het
Vmn1r30	T	G	6: 58,435,124	Y241S	probably damaging	Het
Vmn2r110	A	G	17: 20,574,613	L598P	probably damaging	Het
Wfdc18	T	A	11: 83,709,158	F14Y	probably benign	Het
Wnt10b	A	T	15: 98,772,880	C256S	probably damaging	Het
Xrn1	T	A	9: 96,048,391	Y1554*	probably null	Het
Zc3h12a	T	A	4: 125,119,839	S411C	probably damaging	Het
Zfp112	G	A	7: 24,123,964	G63E	probably benign	Het
Zfp786	A	T	6: 47,820,543	L487Q	probably damaging	Het
Zfp953	T	A	13: 67,345,355	Y75F	possibly 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
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
R8537:Ppp3ca	UTSW	3	136797858	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GGCAGTGTCAATGAGATGGC -3'
(R):5'- TTACAAGGTGATGCGCCAAAC -3'

Sequencing Primer
(F):5'- CAGTGTCAATGAGATGGCCCTAGTC -3'
(R):5'- CCCAGTCCCTAAGCTAAATATTGG -3'

Posted On

2020-10-20