Mutagenetix > Incidental Mutation

Incidental Mutation 'R4024:Ppp3r1'

313410

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

041612-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4024 (G1)

Quality Score

225

Status

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

98% (58/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,215,251 (GRCm39)	Y842H	probably damaging	Het
Adamts9	A	G	6: 92,849,765 (GRCm39)		probably benign	Het
Adgrg7	A	T	16: 56,550,661 (GRCm39)	Y684N	probably damaging	Het
Aoc1	A	T	6: 48,885,203 (GRCm39)	N646I	probably damaging	Het
Armc2	A	G	10: 41,869,054 (GRCm39)	S37P	probably benign	Het
Bhmt2	G	A	13: 93,799,839 (GRCm39)		probably benign	Het
Bpifb1	A	T	2: 154,054,966 (GRCm39)	D286V	probably damaging	Het
Cadps	T	A	14: 12,705,539 (GRCm38)	E285D	probably damaging	Het
Cap2	C	T	13: 46,791,317 (GRCm39)		probably benign	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
Cmip	A	G	8: 118,174,155 (GRCm39)	I412V	possibly damaging	Het
Cndp1	T	C	18: 84,646,938 (GRCm39)	D250G	probably 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
Dlec1	T	C	9: 118,966,408 (GRCm39)	Y1126H	probably damaging	Het
Dzank1	T	C	2: 144,324,147 (GRCm39)	S565G	probably benign	Het
Eef2k	A	G	7: 120,457,821 (GRCm39)	Y60C	probably benign	Het
Fbxl4	T	C	4: 22,377,074 (GRCm39)	V170A	possibly damaging	Het
Foxk2	T	A	11: 121,176,439 (GRCm39)	I195N	possibly damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gpr6	G	A	10: 40,947,264 (GRCm39)	T106M	probably damaging	Het
Grk3	T	A	5: 113,062,850 (GRCm39)	N666Y	possibly damaging	Het
Hnmt	T	C	2: 23,893,777 (GRCm39)	D239G	probably benign	Het
Igf2	A	G	7: 142,208,044 (GRCm39)	V111A	probably benign	Het
Lrriq3	G	A	3: 154,893,939 (GRCm39)	E547K	probably benign	Het
Lrriq4	T	C	3: 30,704,422 (GRCm39)	V150A	possibly damaging	Het
Mroh8	A	G	2: 157,098,272 (GRCm39)	V292A	probably benign	Het
Myo1e	A	G	9: 70,232,157 (GRCm39)	I229V	probably benign	Het
Nisch	A	G	14: 30,898,776 (GRCm39)		probably benign	Het
Nkx2-2	T	C	2: 147,026,154 (GRCm39)	T195A	probably benign	Het
Or10aa3	C	T	1: 173,878,683 (GRCm39)	T248I	probably benign	Het
Or2t47	G	A	11: 58,442,222 (GRCm39)	T281I	possibly damaging	Het
Or5p63	A	T	7: 107,810,949 (GRCm39)	Y262*	probably null	Het
Or8w1	T	A	2: 87,465,499 (GRCm39)	L197F	probably damaging	Het
Plekhn1	A	G	4: 156,309,207 (GRCm39)	V233A	probably damaging	Het
Sash1	T	C	10: 8,605,681 (GRCm39)	D903G	probably benign	Het
Scn8a	A	G	15: 100,937,674 (GRCm39)	D1681G	probably damaging	Het
Slk	A	G	19: 47,610,809 (GRCm39)		probably null	Het
Tasor2	T	C	13: 3,634,554 (GRCm39)	D751G	probably damaging	Het
Tlr11	C	T	14: 50,600,303 (GRCm39)	T763I	probably benign	Het
Ttbk2	T	C	2: 120,590,736 (GRCm39)	T308A	possibly damaging	Het
Tyk2	G	A	9: 21,027,215 (GRCm39)	L552F	probably damaging	Het
Ubp1	A	G	9: 113,773,951 (GRCm39)	D50G	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ulk4	A	T	9: 120,873,915 (GRCm39)	I1172N	possibly damaging	Het
Usf3	T	A	16: 44,036,528 (GRCm39)	V336E	possibly damaging	Het
Vangl2	T	C	1: 171,835,608 (GRCm39)	S355G	probably benign	Het
Vmn1r216	A	G	13: 23,284,061 (GRCm39)	D248G	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
Vmn2r6	A	T	3: 64,445,671 (GRCm39)	S685T	possibly damaging	Het
Vsig10l	T	C	7: 43,117,510 (GRCm39)	V701A	probably benign	Het
Wdfy3	A	G	5: 102,071,961 (GRCm39)		probably benign	Het
Zfp808	T	A	13: 62,319,544 (GRCm39)	C258S	possibly damaging	Het
Zfp988	A	C	4: 147,417,242 (GRCm39)	K559Q	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
R4023: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'- GTGCCATCTTCAGAGTTAGATAGCAC -3'
(R):5'- CTTGAATGTGGGGCAATTAGAC -3'

Sequencing Primer
(F):5'- CTTCAGAGTTAGATAGCACTGTTTTC -3'
(R):5'- TGTGGGGCAATTAGACAAAATTTC -3'

Posted On

2015-04-30