Mutagenetix > Incidental Mutation

Incidental Mutation 'R7773:Ppp3ca'

598694

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

045829-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7773 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136375885-136643488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136596222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 296 (T296A)

Ref Sequence

ENSEMBL: ENSMUSP00000053101 (fasta)

Gene Model

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

AlphaFold

P63328

Predicted Effect

probably benign
Transcript: ENSMUST00000056758
AA Change: T296A

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

SMART Domains

Protein: ENSMUSP00000053101
Gene: ENSMUSG00000028161
AA Change: T296A

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: T296A

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

SMART Domains

Protein: ENSMUSP00000071040
Gene: ENSMUSG00000028161
AA Change: T296A

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

Meta Mutation Damage Score

0.0581

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (55/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,206,180 (GRCm39)	I336T	probably benign	Het
4930519P11Rik	T	C	2: 154,455,107 (GRCm39)	Y84C	unknown	Het
4930568D16Rik	C	T	2: 35,244,606 (GRCm39)	G249S	probably damaging	Het
AAdacl4fm3	A	T	4: 144,430,047 (GRCm39)	L314Q	probably damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Agbl1	T	A	7: 76,348,585 (GRCm39)	V894E	unknown	Het
Amigo3	T	C	9: 107,931,867 (GRCm39)	L430P	probably benign	Het
Aoc1	A	G	6: 48,883,146 (GRCm39)	I341V	probably benign	Het
Bod1l	A	G	5: 41,990,055 (GRCm39)	S223P	probably benign	Het
Cacnb3	T	C	15: 98,537,819 (GRCm39)		probably null	Het
Ccdc63	G	T	5: 122,247,335 (GRCm39)	N503K	probably damaging	Het
Ccdc83	T	A	7: 89,879,120 (GRCm39)	I225F	probably damaging	Het
Cd200r1	A	G	16: 44,610,050 (GRCm39)	T90A	possibly damaging	Het
Cd8a	A	G	6: 71,350,799 (GRCm39)	N88S	probably benign	Het
Cep170	A	G	1: 176,567,642 (GRCm39)	V152A		Het
Chid1	T	C	7: 141,109,518 (GRCm39)	M123V	probably benign	Het
Cnnm4	T	C	1: 36,538,603 (GRCm39)	V595A	probably benign	Het
Coro7	A	G	16: 4,449,870 (GRCm39)	L630P	probably damaging	Het
Cpvl	A	G	6: 53,908,890 (GRCm39)		probably null	Het
Edem3	A	T	1: 151,687,347 (GRCm39)	K762*	probably null	Het
Elp6	T	A	9: 110,141,627 (GRCm39)		probably null	Het
Emilin3	A	T	2: 160,752,718 (GRCm39)	Y77*	probably null	Het
Fam234b	T	A	6: 135,220,912 (GRCm39)	I641N	probably benign	Het
Farsa	T	C	8: 85,590,781 (GRCm39)		probably null	Het
Foxf2	T	C	13: 31,811,182 (GRCm39)	S374P	probably benign	Het
Gm11596	A	T	11: 99,683,667 (GRCm39)	I151N	unknown	Het
Gm9817	C	T	13: 45,232,427 (GRCm39)	Q77*	probably null	Het
Gon4l	A	G	3: 88,803,102 (GRCm39)	K1238E	probably benign	Het
H13	A	G	2: 152,537,431 (GRCm39)	Y292C	probably damaging	Het
Hip1r	A	G	5: 124,139,504 (GRCm39)	N928S	probably benign	Het
Iqcf4	T	C	9: 106,445,812 (GRCm39)	N112D	probably benign	Het
Jak3	A	C	8: 72,131,686 (GRCm39)	T125P	probably benign	Het
Krt7	A	C	15: 101,311,913 (GRCm39)	K124Q	possibly damaging	Het
Ldc1	T	C	4: 130,114,169 (GRCm39)	N83D	probably damaging	Het
Lrrc66	G	A	5: 73,764,664 (GRCm39)	S793F	probably damaging	Het
Mycbp2	C	T	14: 103,485,840 (GRCm39)	V1074I	probably damaging	Het
Nckap5	T	C	1: 125,954,581 (GRCm39)	D657G	probably benign	Het
Nt5el	A	G	13: 105,218,793 (GRCm39)	I42M	probably damaging	Het
Or5b113	T	A	19: 13,342,598 (GRCm39)	V202E	probably benign	Het
Or8k21	T	C	2: 86,145,034 (GRCm39)	I199V	probably benign	Het
Osbpl7	A	G	11: 96,941,548 (GRCm39)	S24G	probably benign	Het
Pcm1	G	T	8: 41,762,610 (GRCm39)	E1385*	probably null	Het
Poc5	A	G	13: 96,547,143 (GRCm39)	T469A	probably damaging	Het
Prl6a1	T	C	13: 27,502,125 (GRCm39)	I164T	probably damaging	Het
Psmd6	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	14: 14,119,882 (GRCm38)		probably null	Het
Rnf149	A	C	1: 39,604,299 (GRCm39)	M188R	possibly damaging	Het
Rpl10l	T	C	12: 66,331,041 (GRCm39)	I31V	probably benign	Het
Serinc5	T	C	13: 92,797,592 (GRCm39)	S32P	probably damaging	Het
Sirt1	T	A	10: 63,162,562 (GRCm39)	K137M	possibly damaging	Het
Smc4	A	G	3: 68,923,496 (GRCm39)	Y251C	probably damaging	Het
Sod3	A	C	5: 52,525,643 (GRCm39)	E114A	possibly damaging	Het
Tgfbr3	A	G	5: 107,288,368 (GRCm39)	V431A	probably benign	Het
Tlr4	T	C	4: 66,757,836 (GRCm39)	S210P	probably damaging	Het
Trub2	G	T	2: 29,676,520 (GRCm39)	T70N	probably benign	Het
Tsga10	A	T	1: 37,874,323 (GRCm39)	C159S	unknown	Het
Vmn1r15	A	T	6: 57,235,644 (GRCm39)	I171F	probably benign	Het
Vmn2r50	T	A	7: 9,771,562 (GRCm39)	H713L	possibly damaging	Het
Zcchc14	T	C	8: 122,378,514 (GRCm39)	S43G	unknown	Het
Zfp638	T	C	6: 83,956,196 (GRCm39)	I1601T	probably damaging	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
R1844:Ppp3ca	UTSW	3	136,627,672 (GRCm39)	missense	probably benign	0.08
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
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'- GCATTCTTGTCTCTCCAGATCA -3'
(R):5'- CCACCTCTGAATATTTGAACCCCTT -3'

Sequencing Primer
(F):5'- TCTCTCCAGATCAATGTCTATCTATG -3'
(R):5'- CATACAATAGAGGACTTCCGGGTCTG -3'

Posted On

2019-11-26