Mutagenetix > Incidental Mutation

Incidental Mutation 'R4023:Ppp3r1'

313355

Institutional Source

Beutler Lab

Gene Symbol

Ppp3r1

Ensembl Gene

ENSMUSG00000033953

Gene Name

protein phosphatase 3, regulatory subunit B, alpha isoform (calcineurin B, type I)

Synonyms

CaNB1, Cnb1, PP2B beta 1

MMRRC Submission

040957-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4023 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17109298-17150380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17144786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 133 (V133A)

Ref Sequence

ENSEMBL: ENSMUSP00000099944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102880]

AlphaFold

Q63810

Predicted Effect

probably damaging
Transcript: ENSMUST00000102880
AA Change: V133A

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

SMART Domains

Protein: ENSMUSP00000099944
Gene: ENSMUSG00000033953
AA Change: V133A

Domain	Start	End	E-Value	Type
EFh	22	50	2.95e0	SMART
EFh	54	82	1.14e-5	SMART
EFh	91	119	2.96e-4	SMART
EFh	132	160	3.01e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154425

Meta Mutation Damage Score

0.8790

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous inactivation of this gene results in embryonic death by midgestation due to vascular patterning defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	CGGG	CGGGGGG	15: 76,833,863 (GRCm39)		probably benign	Het
Acad8	T	C	9: 26,890,481 (GRCm39)	I276V	probably benign	Het
Adgrg7	A	T	16: 56,550,661 (GRCm39)	Y684N	probably damaging	Het
Akap9	C	T	5: 4,042,077 (GRCm39)	T1370I	possibly damaging	Het
Akna	C	G	4: 63,292,627 (GRCm39)	G1094A	probably benign	Het
Catsperb	C	A	12: 101,568,942 (GRCm39)	Y871*	probably null	Het
Clcn4	T	G	7: 7,293,427 (GRCm39)	Y443S	probably damaging	Het
Clcn6	T	A	4: 148,098,740 (GRCm39)	T463S	possibly damaging	Het
Colec10	A	G	15: 54,325,947 (GRCm39)	D259G	probably damaging	Het
Ctnna2	A	T	6: 77,613,827 (GRCm39)	D254E	possibly damaging	Het
Depdc1a	G	A	3: 159,221,786 (GRCm39)		probably null	Het
Dlec1	T	C	9: 118,966,408 (GRCm39)	Y1126H	probably damaging	Het
Fezf2	A	T	14: 12,343,986 (GRCm38)	C302S	probably damaging	Het
Flnc	T	C	6: 29,451,634 (GRCm39)	I1591T	possibly damaging	Het
Kidins220	A	G	12: 25,107,143 (GRCm39)		probably null	Het
Mctp2	C	A	7: 71,739,987 (GRCm39)	C801F	possibly damaging	Het
Myo1e	A	G	9: 70,232,157 (GRCm39)	I229V	probably benign	Het
Or5t17	A	T	2: 86,833,266 (GRCm39)	K318*	probably null	Het
Or8c17	G	A	9: 38,180,757 (GRCm39)	C308Y	possibly damaging	Het
Rif1	T	A	2: 52,011,099 (GRCm39)	Y2389N	probably benign	Het
Sidt1	A	G	16: 44,102,249 (GRCm39)	S304P	possibly damaging	Het
Siglecf	T	A	7: 43,004,995 (GRCm39)	S408R	possibly damaging	Het
Stat5a	T	A	11: 100,765,752 (GRCm39)	C279*	probably null	Het
Tas2r105	A	G	6: 131,663,789 (GRCm39)	V213A	probably benign	Het
Tasor2	T	C	13: 3,634,554 (GRCm39)	D751G	probably damaging	Het
Tektl1	T	C	10: 78,588,727 (GRCm39)	T28A	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp46	A	G	5: 74,193,136 (GRCm39)	Y47H	probably damaging	Het
Vmn1r34	T	A	6: 66,614,688 (GRCm39)	M17L	probably benign	Het
Vmn2r120	T	A	17: 57,843,718 (GRCm39)	D42V	possibly damaging	Het
Wdr20	A	G	12: 110,759,950 (GRCm39)	T279A	probably benign	Het
Zfyve1	A	G	12: 83,641,296 (GRCm39)	V120A	probably benign	Het

Other mutations in Ppp3r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
prokopiy	UTSW	11	17,144,786 (GRCm39)	missense	probably damaging	1.00
R1490:Ppp3r1	UTSW	11	17,148,275 (GRCm39)	missense	probably benign	0.01
R1782:Ppp3r1	UTSW	11	17,148,281 (GRCm39)	missense	probably benign	0.03
R2231:Ppp3r1	UTSW	11	17,143,115 (GRCm39)	missense	probably damaging	1.00
R2232:Ppp3r1	UTSW	11	17,143,115 (GRCm39)	missense	probably damaging	1.00
R4024:Ppp3r1	UTSW	11	17,144,786 (GRCm39)	missense	probably damaging	1.00
R4026:Ppp3r1	UTSW	11	17,144,786 (GRCm39)	missense	probably damaging	1.00
R9106:Ppp3r1	UTSW	11	17,144,789 (GRCm39)	missense	probably damaging	1.00
R9534:Ppp3r1	UTSW	11	17,132,123 (GRCm39)	missense	probably benign	0.06
R9792:Ppp3r1	UTSW	11	17,132,117 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACATGCTGGAGGCTATACTGGT -3'
(R):5'- TACCACGCCCAGCTAACATATTC -3'

Sequencing Primer
(F):5'- GTTATTTGGCCTAGGTAGTC -3'
(R):5'- TCCAAAACTTGAATGTGGGG -3'

Posted On

2015-04-30