Mutagenetix > Incidental Mutation

Incidental Mutation 'R1844:Ppp3ca'

207521

Institutional Source

Beutler Lab

Gene Symbol

Ppp3ca

Ensembl Gene

ENSMUSG00000028161

Gene Name

protein phosphatase 3, catalytic subunit, alpha isoform

Synonyms

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

MMRRC Submission

039869-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1844 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136375885-136643488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136627672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 412 (V412D)

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: V412D

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000053101
Gene: ENSMUSG00000028161
AA Change: V412D

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: V412D

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071040
Gene: ENSMUSG00000028161
AA Change: V412D

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: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.1%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	A	G	4: 40,197,566 (GRCm39)	K857E	probably benign	Het
Adam20	A	G	8: 41,249,080 (GRCm39)	N397D	probably benign	Het
Adgrf3	T	G	5: 30,404,211 (GRCm39)	D347A	probably damaging	Het
Ang6	C	T	14: 44,239,330 (GRCm39)	E133K	possibly damaging	Het
Arhgap23	T	A	11: 97,354,234 (GRCm39)	W205R	probably damaging	Het
Arhgef40	C	A	14: 52,235,080 (GRCm39)	R1086S	probably damaging	Het
Atr	G	T	9: 95,787,870 (GRCm39)	A1488S	probably benign	Het
Cabin1	A	T	10: 75,579,184 (GRCm39)		probably null	Het
Cby2	C	T	14: 75,820,850 (GRCm39)	V292I	probably benign	Het
Cdh22	A	C	2: 164,985,614 (GRCm39)	F324C	probably damaging	Het
Cep350	T	C	1: 155,724,374 (GRCm39)	I3075V	probably damaging	Het
Chd9	A	T	8: 91,683,323 (GRCm39)	K588*	probably null	Het
Clns1a	A	T	7: 97,346,066 (GRCm39)	I44F	probably damaging	Het
Colgalt1	T	C	8: 72,063,995 (GRCm39)	I51T	possibly damaging	Het
Cpt2	C	T	4: 107,761,452 (GRCm39)	E217K	possibly damaging	Het
Ctss	A	G	3: 95,454,105 (GRCm39)		probably null	Het
Cyp1a1	A	G	9: 57,609,980 (GRCm39)	T465A	probably benign	Het
Dbn1	A	G	13: 55,629,160 (GRCm39)		probably null	Het
Dennd1b	A	G	1: 139,018,143 (GRCm39)		probably null	Het
Dnajc1	A	C	2: 18,298,838 (GRCm39)	Y49*	probably null	Het
Dock10	T	A	1: 80,520,918 (GRCm39)	I1188L	probably damaging	Het
Dsg1c	T	G	18: 20,416,096 (GRCm39)		probably null	Het
Efcab6	G	A	15: 83,851,822 (GRCm39)	T352I	possibly damaging	Het
Eps8l3	T	C	3: 107,786,902 (GRCm39)	L26P	possibly damaging	Het
Fbxw26	A	G	9: 109,553,946 (GRCm39)	V231A	probably benign	Het
Fetub	G	A	16: 22,754,419 (GRCm39)	E209K	possibly damaging	Het
Galc	A	T	12: 98,212,556 (GRCm39)		probably null	Het
Gm6871	A	T	7: 41,222,892 (GRCm39)	N65K	probably benign	Het
Gstp3	A	G	19: 4,107,540 (GRCm39)	I208T	probably benign	Het
Gtpbp3	A	G	8: 71,945,272 (GRCm39)	Y448C	probably benign	Het
Hdac7	G	T	15: 97,705,857 (GRCm39)	Q385K	probably damaging	Het
Hemgn	C	T	4: 46,396,655 (GRCm39)	V194M	possibly damaging	Het
Idh2	G	C	7: 79,748,625 (GRCm39)	T113R	probably benign	Het
Jarid2	A	C	13: 45,056,219 (GRCm39)	K336T	possibly damaging	Het
Kcnj4	C	T	15: 79,369,216 (GRCm39)	V255M	probably damaging	Het
Ldhb	C	A	6: 142,439,934 (GRCm39)	W202L	probably damaging	Het
Lmbrd2	T	A	15: 9,177,838 (GRCm39)	Y512*	probably null	Het
Lrp1	A	G	10: 127,431,152 (GRCm39)		probably null	Het
Map3k12	G	A	15: 102,411,970 (GRCm39)	P365S	probably damaging	Het
Map3k5	G	A	10: 19,979,909 (GRCm39)	D806N	probably benign	Het
Matn3	A	G	12: 9,017,662 (GRCm39)	E438G	possibly damaging	Het
Mcmbp	G	A	7: 128,325,698 (GRCm39)	L97F	probably damaging	Het
Mmp3	A	T	9: 7,453,662 (GRCm39)	I428L	probably benign	Het
Mphosph8	T	C	14: 56,934,616 (GRCm39)	V855A	probably damaging	Het
Mycbp2	T	A	14: 103,393,150 (GRCm39)	H3027L	possibly damaging	Het
Nbea	C	T	3: 55,989,857 (GRCm39)	R333H	probably damaging	Het
Notch1	G	T	2: 26,350,446 (GRCm39)	H2231Q	probably benign	Het
Npas2	A	T	1: 39,364,456 (GRCm39)	H266L	probably damaging	Het
Oas3	A	G	5: 120,898,045 (GRCm39)	S833P	probably damaging	Het
Or1j15	T	C	2: 36,458,789 (GRCm39)	Y60H	probably damaging	Het
Or5ak24	T	C	2: 85,260,265 (GRCm39)	T303A	probably benign	Het
Or5w17	A	C	2: 87,584,334 (GRCm39)	M1R	probably null	Het
Or6c65	G	A	10: 129,603,725 (GRCm39)	R120H	probably benign	Het
Pak4	C	T	7: 28,264,690 (GRCm39)	V71I	possibly damaging	Het
Pitpnm1	T	C	19: 4,162,395 (GRCm39)	V1075A	probably damaging	Het
Pkp3	G	A	7: 140,668,415 (GRCm39)	V555M	probably damaging	Het
Plekhm2	T	C	4: 141,359,685 (GRCm39)	T381A	probably benign	Het
Plppr3	A	G	10: 79,702,244 (GRCm39)		probably null	Het
Ppp2r5e	A	T	12: 75,516,540 (GRCm39)	F216I	possibly damaging	Het
Prss50	A	G	9: 110,687,081 (GRCm39)		probably benign	Het
Psph	A	C	5: 129,843,532 (GRCm39)	I174R	probably damaging	Het
Ptov1	A	G	7: 44,514,991 (GRCm39)	Y207H	possibly damaging	Het
Ptprs	A	G	17: 56,741,510 (GRCm39)	S585P	probably damaging	Het
Rnf146	A	T	10: 29,223,720 (GRCm39)	H55Q	probably damaging	Het
Rnf213	T	A	11: 119,332,009 (GRCm39)	M2407K	probably damaging	Het
Rnls	A	C	19: 33,179,931 (GRCm39)	L55R	possibly damaging	Het
Rptor	T	C	11: 119,647,146 (GRCm39)	C246R	probably damaging	Het
Rrp12	C	T	19: 41,866,222 (GRCm39)		probably null	Het
Samd3	A	G	10: 26,127,672 (GRCm39)	D223G	probably damaging	Het
Sdad1	G	A	5: 92,453,155 (GRCm39)	Q68*	probably null	Het
Selenov	G	A	7: 27,989,847 (GRCm39)	T219M	probably damaging	Het
Shd	A	G	17: 56,278,554 (GRCm39)	D39G	possibly damaging	Het
Slc26a10	A	T	10: 127,014,279 (GRCm39)	V245E	probably damaging	Het
Slit1	A	G	19: 41,614,012 (GRCm39)	L820P	probably damaging	Het
Snap23	T	C	2: 120,421,163 (GRCm39)	F96L	probably benign	Het
Speer1k	T	C	5: 10,998,994 (GRCm39)		probably benign	Het
Spef1l	A	T	7: 139,556,005 (GRCm39)	I212N	probably benign	Het
Stkld1	A	G	2: 26,840,115 (GRCm39)	H395R	probably damaging	Het
Syt13	G	A	2: 92,771,165 (GRCm39)	G84D	probably damaging	Het
Terb2	T	A	2: 122,016,990 (GRCm39)	L37Q	probably damaging	Het
Themis	A	G	10: 28,657,753 (GRCm39)	Y107C	probably damaging	Het
Top2a	T	A	11: 98,906,895 (GRCm39)	T249S	probably benign	Het
Tspo2	A	T	17: 48,756,148 (GRCm39)	F71Y	probably damaging	Het
Ttc21b	T	A	2: 66,053,921 (GRCm39)	K753*	probably null	Het
Ttk	A	G	9: 83,736,915 (GRCm39)	Y458C	possibly damaging	Het
Ttn	T	C	2: 76,586,017 (GRCm39)	R21905G	probably damaging	Het
Ugt3a1	T	A	15: 9,351,254 (GRCm39)	F88I	probably benign	Het
Vmn1r119	A	G	7: 20,746,121 (GRCm39)	L87P	probably damaging	Het
Vmn1r36	A	G	6: 66,693,747 (GRCm39)	F6L	probably benign	Het
Vmn2r15	T	A	5: 109,434,860 (GRCm39)	K615*	probably null	Het
Wdr18	G	A	10: 79,802,561 (GRCm39)		probably null	Het
Wdr6	A	T	9: 108,453,176 (GRCm39)	W236R	probably damaging	Het
Zbtb48	T	C	4: 152,110,955 (GRCm39)	T187A	probably benign	Het

Other mutations in Ppp3ca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Ppp3ca	APN	3	136,640,942 (GRCm39)	missense	probably benign	0.01
IGL01405:Ppp3ca	APN	3	136,574,482 (GRCm39)	missense	probably benign	0.33
IGL02061:Ppp3ca	APN	3	136,503,624 (GRCm39)	missense	probably benign
IGL02285:Ppp3ca	APN	3	136,634,387 (GRCm39)	splice site	probably benign
IGL02472:Ppp3ca	APN	3	136,627,623 (GRCm39)	missense	possibly damaging	0.57
IGL02706:Ppp3ca	APN	3	136,611,079 (GRCm39)	missense	possibly damaging	0.84
IGL02894:Ppp3ca	APN	3	136,503,573 (GRCm39)	missense	probably damaging	1.00
R0325:Ppp3ca	UTSW	3	136,640,900 (GRCm39)	missense	probably benign	0.15
R1072:Ppp3ca	UTSW	3	136,640,888 (GRCm39)	missense	probably benign
R1427:Ppp3ca	UTSW	3	136,627,675 (GRCm39)	missense	probably damaging	1.00
R1524:Ppp3ca	UTSW	3	136,503,579 (GRCm39)	missense	probably benign
R1568:Ppp3ca	UTSW	3	136,634,305 (GRCm39)	missense	probably benign	0.00
R1754:Ppp3ca	UTSW	3	136,587,209 (GRCm39)	missense	probably benign	0.20
R1800:Ppp3ca	UTSW	3	136,640,792 (GRCm39)	missense	probably damaging	0.98
R1878:Ppp3ca	UTSW	3	136,503,639 (GRCm39)	missense	probably benign	0.03
R2155:Ppp3ca	UTSW	3	136,596,211 (GRCm39)	missense	possibly damaging	0.95
R2160:Ppp3ca	UTSW	3	136,583,391 (GRCm39)	missense	probably damaging	1.00
R2220:Ppp3ca	UTSW	3	136,503,685 (GRCm39)	missense	probably damaging	1.00
R2331:Ppp3ca	UTSW	3	136,503,580 (GRCm39)	missense	probably benign
R3052:Ppp3ca	UTSW	3	136,503,605 (GRCm39)	missense	probably benign	0.00
R3500:Ppp3ca	UTSW	3	136,587,273 (GRCm39)	missense	probably benign	0.00
R4764:Ppp3ca	UTSW	3	136,596,250 (GRCm39)	missense	probably damaging	0.99
R4974:Ppp3ca	UTSW	3	136,640,810 (GRCm39)	missense	possibly damaging	0.60
R5952:Ppp3ca	UTSW	3	136,634,332 (GRCm39)	missense	probably benign	0.08
R6051:Ppp3ca	UTSW	3	136,581,883 (GRCm39)	missense	probably damaging	1.00
R6395:Ppp3ca	UTSW	3	136,583,531 (GRCm39)	missense	possibly damaging	0.47
R6975:Ppp3ca	UTSW	3	136,611,062 (GRCm39)	missense	probably damaging	1.00
R7121:Ppp3ca	UTSW	3	136,574,387 (GRCm39)	missense	probably damaging	1.00
R7720:Ppp3ca	UTSW	3	136,596,250 (GRCm39)	missense	probably damaging	1.00
R7773:Ppp3ca	UTSW	3	136,596,222 (GRCm39)	missense	probably benign
R7828:Ppp3ca	UTSW	3	136,503,535 (GRCm39)	missense	probably damaging	1.00
R7830:Ppp3ca	UTSW	3	136,574,481 (GRCm39)	missense	probably damaging	1.00
R8108:Ppp3ca	UTSW	3	136,637,986 (GRCm39)	splice site	probably null
R8126:Ppp3ca	UTSW	3	136,608,952 (GRCm39)	missense	probably damaging	0.99
R8285:Ppp3ca	UTSW	3	136,587,205 (GRCm39)	missense	probably damaging	1.00
R8516:Ppp3ca	UTSW	3	136,583,529 (GRCm39)	missense	probably damaging	1.00
R8537:Ppp3ca	UTSW	3	136,503,619 (GRCm39)	missense	possibly damaging	0.89
R9662:Ppp3ca	UTSW	3	136,583,501 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGGATTCAATTCAAAGGTAGCC -3'
(R):5'- TAAATCCTGCAGCAACCCGG -3'

Sequencing Primer
(F):5'- TTCAATTCAAAGGTAGCCAAGAG -3'
(R):5'- GGGGATAAAATGGCCCATAATCC -3'

Posted On

2014-06-23