Mutagenetix > Incidental Mutation

Incidental Mutation 'R1568:Ppp3ca'

175405

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

039607-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1568 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

136670124-136937727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136928544 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 422 (T422A)

Ref Sequence

ENSEMBL: ENSMUSP00000071040 (fasta)

Gene Model

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

AlphaFold

P63328

Predicted Effect

probably benign
Transcript: ENSMUST00000056758
AA Change: T422A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000053101
Gene: ENSMUSG00000028161
AA Change: T422A

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: T422A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000071040
Gene: ENSMUSG00000028161
AA Change: T422A

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: ENSMUST00000130768

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,589,971	K48E	probably damaging	Het
4931408C20Rik	T	C	1: 26,685,869	T77A	probably benign	Het
Adam18	T	G	8: 24,647,783		probably null	Het
Adgb	A	T	10: 10,442,665	Y138*	probably null	Het
Adra1d	T	C	2: 131,546,172	R488G	possibly damaging	Het
Ahnak	G	A	19: 9,002,375	G341E	probably damaging	Het
Ankmy1	T	C	1: 92,881,116	D690G	probably damaging	Het
Arhgef38	C	T	3: 133,132,464	E21K	probably damaging	Het
Atp8b2	T	C	3: 89,949,848	M402V	probably damaging	Het
Atp8b4	G	T	2: 126,325,394	H1062N	probably benign	Het
Bdnf	A	G	2: 109,723,794	H131R	probably damaging	Het
Cblb	C	T	16: 52,135,829	T265M	probably damaging	Het
Cenpe	T	A	3: 135,239,758	M1011K	probably benign	Het
Clca2	A	T	3: 145,075,649	Y711*	probably null	Het
Clca4a	A	G	3: 144,952,929	Y842H	probably benign	Het
Clspn	T	A	4: 126,581,517	M1021K	probably benign	Het
Cpne8	G	T	15: 90,619,642	R107S	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Dnah5	T	A	15: 28,409,177	N3580K	probably damaging	Het
Dsp	T	C	13: 38,175,147	I298T	probably damaging	Het
Dync2h1	T	C	9: 7,157,553	K858R	probably null	Het
Fasn	A	T	11: 120,813,249	V1448E	possibly damaging	Het
Ghdc	A	G	11: 100,768,505	I322T	probably benign	Het
Gins2	T	C	8: 120,582,200	D105G	probably damaging	Het
Insr	A	T	8: 3,165,576	D975E	probably benign	Het
Klrc3	T	C	6: 129,639,547	D169G	probably benign	Het
Krt76	T	A	15: 101,885,008	S532C	unknown	Het
Lamp3	A	T	16: 19,673,525	M323K	probably damaging	Het
Lgmn	T	C	12: 102,394,609	I423M	possibly damaging	Het
Lpgat1	A	T	1: 191,776,426	T359S	possibly damaging	Het
Lrguk	T	A	6: 34,086,438	I466N	probably damaging	Het
Magi3	A	C	3: 104,089,527	M234R	probably benign	Het
Myh14	G	A	7: 44,611,698	R1042*	probably null	Het
Nfia	T	G	4: 98,111,224	Y378D	possibly damaging	Het
Npffr1	T	A	10: 61,626,233	S383T	possibly damaging	Het
Olfr1308	C	A	2: 111,960,240	V278F	probably benign	Het
Olfr1410	T	C	1: 92,607,954	L39P	probably damaging	Het
Olfr1466	C	A	19: 13,342,175	P139Q	probably benign	Het
Olfr658	T	A	7: 104,644,770	I199F	probably benign	Het
Osr1	G	A	12: 9,579,798		probably null	Het
Pde4b	A	C	4: 102,597,699	R375S	probably damaging	Het
Pde8a	A	G	7: 81,292,263	E150G	probably damaging	Het
Pkhd1l1	A	T	15: 44,545,501		probably null	Het
Proser1	T	C	3: 53,477,759	V354A	possibly damaging	Het
Rgs20	G	T	1: 5,020,827	R127S	probably benign	Het
Sec22a	T	C	16: 35,347,628	D171G	probably benign	Het
Secisbp2	A	G	13: 51,673,107	E417G	possibly damaging	Het
Serpinb6b	T	C	13: 32,974,912	L32S	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Slc39a10	A	T	1: 46,826,215	S487T	probably benign	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Spag6	A	G	2: 18,733,114	D265G	probably benign	Het
Sybu	G	T	15: 44,718,832	S132*	probably null	Het
Virma	T	C	4: 11,528,776	S1288P	probably damaging	Het
Vmn1r229	T	A	17: 20,814,805	V104D	probably damaging	Het
Vmn1r238	T	C	18: 3,123,358	T19A	probably benign	Het
Vmn2r86	C	T	10: 130,453,141	V164I	probably benign	Het
Wfdc13	G	T	2: 164,686,934	A64S	probably damaging	Het
Zfp873	C	A	10: 82,060,279	H318Q	probably damaging	Het
Zyg11a	A	G	4: 108,183,646		probably null	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
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
R9662:Ppp3ca	UTSW	3	136877740	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGTGCAGAAGAGGCCATAACTCC -3'
(R):5'- AGAGCGAGCTTCAATGACCAAGAC -3'

Sequencing Primer
(F):5'- GGCCATAACTCCACAATTACATAATG -3'
(R):5'- GCTTCAATGACCAAGACACTCAATG -3'

Posted On

2014-04-24