Mutagenetix > Incidental Mutation

Incidental Mutation 'R1782:Ppp3r1'

195412

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

039813-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17109298-17150380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17148281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 163 (H163R)

Ref Sequence

ENSEMBL: ENSMUSP00000099944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020317] [ENSMUST00000102880]

AlphaFold

Q63810

Predicted Effect

probably benign
Transcript: ENSMUST00000020317

SMART Domains

Protein: ENSMUSP00000020317
Gene: ENSMUSG00000020116

Domain	Start	End	E-Value	Type
KH	153	226	8.92e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102880
AA Change: H163R

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099944
Gene: ENSMUSG00000033953
AA Change: H163R

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,247,971 (GRCm39)	T2573S	probably benign	Het
Adgra3	G	T	5: 50,129,404 (GRCm39)	T738K	probably benign	Het
Adgrl4	C	T	3: 151,248,442 (GRCm39)	Q705*	probably null	Het
Atp2b1	T	G	10: 98,839,063 (GRCm39)	D630E	probably benign	Het
Atp2c1	G	A	9: 105,308,786 (GRCm39)	R577C	probably damaging	Het
Atp9b	A	G	18: 80,809,137 (GRCm39)	V211A	probably damaging	Het
C8g	T	A	2: 25,389,094 (GRCm39)	D163V	possibly damaging	Het
Catsper1	T	C	19: 5,385,937 (GRCm39)	Y57H	probably benign	Het
Ccdc25	C	T	14: 66,091,597 (GRCm39)	A72V	probably benign	Het
Cdca2	T	G	14: 67,915,260 (GRCm39)	E666D	probably benign	Het
Cdh23	G	A	10: 60,324,321 (GRCm39)	T313I	probably damaging	Het
Cfap57	C	A	4: 118,472,172 (GRCm39)	R69L	probably damaging	Het
Chat	C	A	14: 32,130,944 (GRCm39)	V566L	probably damaging	Het
Cntn3	T	C	6: 102,250,772 (GRCm39)	I259V	probably damaging	Het
Cog1	A	G	11: 113,544,792 (GRCm39)	T325A	probably benign	Het
Cxcl10	A	G	5: 92,495,662 (GRCm39)	*94Q	probably null	Het
Cyp4a12b	T	C	4: 115,291,178 (GRCm39)	Y369H	probably damaging	Het
Dhx33	T	C	11: 70,892,466 (GRCm39)	Y101C	probably damaging	Het
Dock6	A	G	9: 21,723,142 (GRCm39)	M1593T	probably damaging	Het
Dpy19l3	T	C	7: 35,407,580 (GRCm39)	T488A	possibly damaging	Het
Elapor2	A	T	5: 9,471,620 (GRCm39)	K320N	possibly damaging	Het
Fbxw14	A	G	9: 109,107,759 (GRCm39)	I205T	possibly damaging	Het
Fbxw7	T	C	3: 84,811,126 (GRCm39)	F84L	probably benign	Het
Flii	T	C	11: 60,605,462 (GRCm39)	T1212A	probably benign	Het
Fosl1	T	A	19: 5,500,210 (GRCm39)	I43N	probably damaging	Het
Gabrr2	G	A	4: 33,085,593 (GRCm39)	A338T	probably damaging	Het
Gask1b	T	C	3: 79,793,838 (GRCm39)	L102S	possibly damaging	Het
Gatad2b	T	C	3: 90,249,178 (GRCm39)	V72A	probably benign	Het
Gorasp1	G	T	9: 119,761,888 (GRCm39)	N48K	probably damaging	Het
Gramd1b	C	A	9: 40,324,633 (GRCm39)	D139Y	probably damaging	Het
Gtf3c1	A	T	7: 125,266,246 (GRCm39)	V1030E	probably damaging	Het
Havcr2	C	T	11: 46,345,844 (GRCm39)	T6I	unknown	Het
Hgs	A	G	11: 120,369,331 (GRCm39)	E340G	probably damaging	Het
Irx2	A	G	13: 72,779,585 (GRCm39)	T290A	probably benign	Het
Itgb8	T	A	12: 119,155,853 (GRCm39)	I200F	probably damaging	Het
Josd2	A	G	7: 44,120,577 (GRCm39)	I105V	probably damaging	Het
Kcnh7	T	A	2: 62,566,513 (GRCm39)	D806V	probably damaging	Het
Kctd8	A	G	5: 69,498,319 (GRCm39)	V109A	possibly damaging	Het
Kmt2d	T	A	15: 98,755,429 (GRCm39)		probably benign	Het
Krtap2-4	A	T	11: 99,505,353 (GRCm39)	V86E	probably damaging	Het
Lgr6	C	G	1: 134,915,717 (GRCm39)	V344L	probably damaging	Het
Lime1	A	T	2: 181,024,849 (GRCm39)	R168W	possibly damaging	Het
Macroh2a1	A	T	13: 56,222,134 (GRCm39)	M339K	probably damaging	Het
Magel2	C	T	7: 62,030,605 (GRCm39)	Q1170*	probably null	Het
Ndufaf3	A	T	9: 108,443,210 (GRCm39)	I169N	probably damaging	Het
Neb	T	A	2: 52,174,357 (GRCm39)	K1501*	probably null	Het
Nim1k	A	T	13: 120,173,687 (GRCm39)	S402R	probably benign	Het
Nt5dc2	T	G	14: 30,860,158 (GRCm39)	S395R	probably damaging	Het
Oaz2	G	T	9: 65,596,143 (GRCm39)	V132L	probably benign	Het
Or2t45	T	A	11: 58,669,631 (GRCm39)	L226H	probably damaging	Het
Or4l1	A	T	14: 50,166,096 (GRCm39)	W302R	probably benign	Het
Or5b104	T	A	19: 13,072,167 (GRCm39)	I282F	probably damaging	Het
Or7g25	C	T	9: 19,159,877 (GRCm39)	V273I	probably benign	Het
Or8k39	T	C	2: 86,563,026 (GRCm39)	K310R	probably benign	Het
Pfkl	A	G	10: 77,824,554 (GRCm39)	V717A	probably benign	Het
Phf8-ps	T	C	17: 33,286,662 (GRCm39)	I47V	probably benign	Het
Phgdh	C	T	3: 98,228,063 (GRCm39)	V231I	probably damaging	Het
Pkhd1	A	T	1: 20,635,935 (GRCm39)	M465K	probably damaging	Het
Prune2	T	A	19: 17,099,537 (GRCm39)	N1680K	probably benign	Het
Puf60	T	A	15: 75,943,724 (GRCm39)	I216L	probably benign	Het
Rev3l	T	A	10: 39,675,881 (GRCm39)	N190K	probably benign	Het
Rp1	G	A	1: 4,419,312 (GRCm39)	S600L	probably benign	Het
Rpl3l	A	G	17: 24,952,430 (GRCm39)	I217V	probably benign	Het
Scly	T	A	1: 91,236,102 (GRCm39)	V194D	probably damaging	Het
Scnn1b	A	G	7: 121,517,184 (GRCm39)	T607A	probably benign	Het
Slc13a3	G	A	2: 165,287,439 (GRCm39)	L172F	probably benign	Het
Sorbs2	A	G	8: 46,258,733 (GRCm39)	Y1090C	probably damaging	Het
Spag17	T	A	3: 99,918,070 (GRCm39)	M351K	probably benign	Het
St14	A	G	9: 31,011,460 (GRCm39)	Y444H	probably damaging	Het
Taf8	C	A	17: 47,809,136 (GRCm39)	A109S	probably benign	Het
Tbc1d30	T	A	10: 121,103,525 (GRCm39)	K502N	probably damaging	Het
Them5	T	C	3: 94,251,796 (GRCm39)	S136P	probably benign	Het
Tmem248	T	A	5: 130,260,769 (GRCm39)	N111K	probably damaging	Het
Tmem74	C	A	15: 43,730,348 (GRCm39)	V232L	probably damaging	Het
Tnip2	A	T	5: 34,657,012 (GRCm39)	H264Q	probably benign	Het
Trim5	A	G	7: 103,915,023 (GRCm39)		probably null	Het
Trim63	A	G	4: 134,050,349 (GRCm39)	Q211R	probably benign	Het
Trrap	T	C	5: 144,759,513 (GRCm39)	V2231A	possibly damaging	Het
Ttn	T	C	2: 76,565,831 (GRCm39)	S28174G	probably benign	Het
Ugt2b36	T	C	5: 87,229,440 (GRCm39)	D341G	possibly damaging	Het
Uroc1	G	A	6: 90,313,901 (GRCm39)	E63K	probably damaging	Het
Ush2a	T	C	1: 188,643,382 (GRCm39)	V4248A	probably benign	Het
Usp1	A	G	4: 98,822,435 (GRCm39)	H583R	probably damaging	Het
Usp8	T	A	2: 126,561,971 (GRCm39)	F55Y	probably damaging	Het
Vmn2r13	T	A	5: 109,306,040 (GRCm39)	T513S	probably benign	Het
Wdr73	T	C	7: 80,541,526 (GRCm39)	T339A	probably damaging	Het
Wnt2	T	A	6: 18,008,639 (GRCm39)	N266I	possibly damaging	Het
Wwp2	AGAACT	A	8: 108,233,031 (GRCm39)		probably null	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
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
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'- CCCACCATGCAGCCTGGATTATC -3'
(R):5'- GGCTCATGTTGGAAAATGTGGCTTC -3'

Sequencing Primer
(F):5'- cttgctccccacctgcc -3'
(R):5'- GTGGCTTCACAGAGAAAAATACTTCC -3'

Posted On

2014-05-23