Mutagenetix > Incidental Mutations

Incidental Mutation 'R7828:Ppp3ca'

602426

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 #

R7828 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136670124-136937727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136797774 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 36 (D36G)

Ref Sequence

ENSEMBL: ENSMUSP00000071040 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000056758
AA Change: D36G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000053101
Gene: ENSMUSG00000028161
AA Change: D36G

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: D36G

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

SMART Domains

Protein: ENSMUSP00000071040
Gene: ENSMUSG00000028161
AA Change: D36G

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (64/64)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 86,528,275	T869A	probably benign	Het
Aqr	T	A	2: 114,149,016	I313F	probably damaging	Het
Arid1b	C	A	17: 5,097,668	P615Q	probably damaging	Het
Asb16	C	A	11: 102,277,927	Q410K	probably benign	Het
Ash2l	T	C	8: 25,823,186	E335G	possibly damaging	Het
AU041133	C	T	10: 82,151,220	H236Y	probably damaging	Het
Bhmt	T	A	13: 93,617,648	Y351F	possibly damaging	Het
Birc6	T	C	17: 74,579,506	S610P	probably damaging	Het
Cab39l	T	C	14: 59,499,710		probably null	Het
Cdc7	A	T	5: 106,972,950	Q146L	possibly damaging	Het
Cdk18	T	C	1: 132,116,904	H328R	possibly damaging	Het
Cdsn	T	C	17: 35,554,981	S136P	unknown	Het
Ces3b	T	A	8: 105,086,596	L203Q	probably damaging	Het
Cgn	A	G	3: 94,769,179	V840A	probably damaging	Het
Ctse	T	C	1: 131,662,753	L71P	probably damaging	Het
Ears2	G	T	7: 122,048,340	S240R	probably benign	Het
Edem3	A	G	1: 151,811,635	I756V	possibly damaging	Het
Epas1	T	C	17: 86,827,699	Y587H	probably benign	Het
Fcamr	G	T	1: 130,811,706	A248S	probably damaging	Het
Gm14496	G	A	2: 181,991,378	W51*	probably null	Het
Hfm1	A	T	5: 106,881,791		probably null	Het
Hhip	T	C	8: 79,998,208	I312V	probably benign	Het
Hmcn2	C	A	2: 31,405,875	N2658K	possibly damaging	Het
Iars	T	A	13: 49,725,272	M948K	probably benign	Het
Il27ra	A	G	8: 84,031,558	L521S	probably damaging	Het
Itpr1	A	G	6: 108,482,931	D2062G	probably damaging	Het
Jag2	G	T	12: 112,913,180	R784S	probably benign	Het
Maea	T	A	5: 33,360,378	D87E	probably benign	Het
Man2a2	A	G	7: 80,366,926	I380T	probably damaging	Het
Mprip	G	T	11: 59,737,089	G253W	probably damaging	Het
Naglu	G	A	11: 101,076,610	R462H	probably damaging	Het
Nrxn1	T	A	17: 90,059,551	I342F	probably damaging	Het
Olfr1419	A	T	19: 11,870,805	M137K	probably damaging	Het
Olfr1467	G	A	19: 13,365,146	V173I	probably benign	Het
Olfr821	A	G	10: 130,033,887	D87G	probably damaging	Het
Olfr834	T	C	9: 18,988,920	S311P	probably benign	Het
Oosp1	C	A	19: 11,691,005	V5L	probably benign	Het
Pbrm1	T	C	14: 31,030,891	M95T	probably damaging	Het
Pcdh17	C	G	14: 84,532,985	R968G	probably damaging	Het
Pcdhb7	T	G	18: 37,343,862	S684A	probably damaging	Het
Polr1b	T	G	2: 129,105,280	I175R	probably damaging	Het
Prr14l	G	A	5: 32,844,391		probably benign	Het
Rcn2	A	T	9: 56,052,982	I178F	probably benign	Het
Sbspon	T	G	1: 15,860,319	K148Q	probably damaging	Het
Scn3a	A	T	2: 65,508,574	V587E	probably damaging	Het
Setd7	T	A	3: 51,536,657		probably null	Het
Sh2d5	C	A	4: 138,256,797	P85T	probably benign	Het
Slc12a1	T	A	2: 125,166,682	V204D	possibly damaging	Het
Slc2a8	G	A	2: 32,980,068	R154*	probably null	Het
Slc36a3	C	T	11: 55,151,198	G42S	probably benign	Het
Spink5	A	G	18: 44,010,229	K751R	probably benign	Het
Sult2a5	T	A	7: 13,628,843		probably null	Het
Thoc5	T	C	11: 4,902,306		probably benign	Het
Ttn	A	G	2: 76,975,037	S153P	probably damaging	Het
Ubap2	A	T	4: 41,221,615	L228Q	probably benign	Het
Upk3b	G	A	5: 136,040,139	G121S	possibly damaging	Het
Usp1	T	A	4: 98,932,307	S456R	probably damaging	Het
Usp28	A	T	9: 49,003,902	N126Y	possibly damaging	Het
Wdfy4	C	T	14: 32,988,921	V2411M	possibly damaging	Het
Zfp595	C	T	13: 67,317,705	E165K	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTCTTGGTAGACTCTGAATGTG -3'
(R):5'- TAAGTTGTCTGAGGGCTCACTG -3'

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

Posted On

2019-12-03