Mutagenetix > Incidental Mutation

Incidental Mutation 'R2021:Ppp3r2'

223958

Institutional Source

Beutler Lab

Gene Symbol

Ppp3r2

Ensembl Gene

ENSMUSG00000028310

Gene Name

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

Synonyms

CnB2, CaNB2, PP2B beta 2

MMRRC Submission

040030-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R2021 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49678747-49681983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49681723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 76 (I76V)

Ref Sequence

ENSEMBL: ENSMUSP00000029991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029991] [ENSMUST00000076674] [ENSMUST00000093859]

AlphaFold

Q63811

Predicted Effect

probably benign
Transcript: ENSMUST00000029991
AA Change: I76V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000029991
Gene: ENSMUSG00000028310
AA Change: I76V

Domain	Start	End	E-Value	Type
EFh	22	50	1.72e0	SMART
EFh	54	82	2.37e-3	SMART
EFh	91	119	4.19e-4	SMART
EFh	132	160	1.73e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000076674

SMART Domains

Protein: ENSMUSP00000075970
Gene: ENSMUSG00000039579

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	161	181	N/A	INTRINSIC
Lig_chan-Glu_bd	557	622	9.62e-22	SMART
PBPe	565	910	1.43e-73	SMART
transmembrane domain	934	956	N/A	INTRINSIC
coiled coil region	1063	1105	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093859

SMART Domains

Protein: ENSMUSP00000091381
Gene: ENSMUSG00000039579

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	161	181	N/A	INTRINSIC
Lig_chan-Glu_bd	557	622	9.62e-22	SMART
PBPe	565	910	1.43e-73	SMART
transmembrane domain	934	956	N/A	INTRINSIC
coiled coil region	1083	1125	N/A	INTRINSIC

Meta Mutation Damage Score

0.0626

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility due to reduced hyperactivated sperm motility and midpiece rigidity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,035,450 (GRCm39)	S316T	probably damaging	Het
Alox8	C	T	11: 69,077,114 (GRCm39)	V460I	probably damaging	Het
Aoc1l2	T	C	6: 48,908,385 (GRCm39)	S462P	probably damaging	Het
Arvcf	G	A	16: 18,218,482 (GRCm39)	A491T	probably damaging	Het
Asnsd1	A	G	1: 53,386,386 (GRCm39)	S414P	possibly damaging	Het
Btbd7	A	G	12: 102,756,968 (GRCm39)	L706P	probably damaging	Het
Camk2d	T	A	3: 126,574,105 (GRCm39)	W171R	probably damaging	Het
Casc3	T	A	11: 98,712,332 (GRCm39)	S124T	probably benign	Het
Casp8ap2	T	C	4: 32,644,560 (GRCm39)	V1211A	probably benign	Het
Ccdc182	T	C	11: 88,184,962 (GRCm39)	V14A	possibly damaging	Het
Ccdc80	A	T	16: 44,943,275 (GRCm39)	Q795L	probably damaging	Het
Ccdc88a	T	G	11: 29,453,480 (GRCm39)	S1614R	probably damaging	Het
Cemip2	G	A	19: 21,822,114 (GRCm39)	A1170T	possibly damaging	Het
Clcn6	A	G	4: 148,095,109 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,313,360 (GRCm39)	V3070A	probably benign	Het
Dst	G	A	1: 34,205,372 (GRCm39)	V1025I	possibly damaging	Het
Dynlt4	A	G	4: 116,985,504 (GRCm39)	E109G	possibly damaging	Het
Elk3	T	A	10: 93,101,539 (GRCm39)	I71F	probably damaging	Het
Flt3	A	T	5: 147,306,300 (GRCm39)	I276N	probably damaging	Het
Frem1	G	T	4: 82,831,795 (GRCm39)	T1988K	probably benign	Het
Golph3l	T	A	3: 95,524,668 (GRCm39)	D306E	probably benign	Het
Grk2	T	A	19: 4,340,698 (GRCm39)	I254F	probably damaging	Het
Hgf	C	T	5: 16,781,919 (GRCm39)	T214I	probably benign	Het
Hoxc5	C	A	15: 102,922,814 (GRCm39)		probably null	Het
Hsd11b1	T	C	1: 192,922,686 (GRCm39)	T124A	probably benign	Het
Ipp	A	G	4: 116,372,565 (GRCm39)	Y198C	probably benign	Het
Ism1	T	A	2: 139,582,047 (GRCm39)		probably null	Het
Klhl42	A	G	6: 146,993,394 (GRCm39)	Y122C	possibly damaging	Het
Klk1b21	A	T	7: 43,755,418 (GRCm39)	K206*	probably null	Het
Lcn11	A	G	2: 25,668,097 (GRCm39)	K85R	probably benign	Het
Macf1	G	T	4: 123,366,523 (GRCm39)	A2746E	probably damaging	Het
Matn4	A	G	2: 164,242,573 (GRCm39)	V175A	probably damaging	Het
Myh2	A	T	11: 67,082,545 (GRCm39)	N1372Y	probably damaging	Het
Ncl	A	G	1: 86,284,677 (GRCm39)		probably null	Het
Nudt2	A	G	4: 41,480,255 (GRCm39)	D46G	probably damaging	Het
Obscn	C	T	11: 58,958,000 (GRCm39)	D3567N	probably benign	Het
Or1j17	G	C	2: 36,578,487 (GRCm39)	V158L	probably benign	Het
Or2z9	G	T	8: 72,853,930 (GRCm39)	V109F	possibly damaging	Het
Or4a72	A	T	2: 89,405,305 (GRCm39)	M255K	possibly damaging	Het
Pamr1	T	A	2: 102,464,880 (GRCm39)	M343K	probably benign	Het
Pcdh15	T	G	10: 74,467,025 (GRCm39)	S1684A	possibly damaging	Het
Ppm1h	T	A	10: 122,714,433 (GRCm39)	L324*	probably null	Het
Prkdc	G	A	16: 15,494,873 (GRCm39)	V748I	probably benign	Het
Prss47	A	G	13: 65,199,591 (GRCm39)	V96A	probably benign	Het
Rsbn1	C	T	3: 103,821,789 (GRCm39)	T8I	probably benign	Het
Rsf1	GGCG	GGCGACGGCGGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Serpinb3d	A	G	1: 107,006,182 (GRCm39)	V302A	probably benign	Het
Sfrp4	A	T	13: 19,816,496 (GRCm39)	I177F	probably benign	Het
Sh3bp2	A	G	5: 34,701,569 (GRCm39)		probably benign	Het
Slc7a12	A	G	3: 14,562,393 (GRCm39)	T257A	probably damaging	Het
Spata31e5	A	T	1: 28,817,234 (GRCm39)	V266D	probably damaging	Het
Specc1l	T	C	10: 75,103,425 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,534,716 (GRCm39)	T3658A	probably benign	Het
Styxl2	A	T	1: 165,928,392 (GRCm39)	W407R	probably benign	Het
Tmem30c	T	C	16: 57,101,725 (GRCm39)	T68A	probably damaging	Het
Tnr	A	G	1: 159,679,592 (GRCm39)	I189V	probably benign	Het
Trrap	A	G	5: 144,790,298 (GRCm39)	N3586S	possibly damaging	Het
Usp14	T	C	18: 10,024,632 (GRCm39)	T22A	probably damaging	Het
Vmn1r68	A	G	7: 10,261,918 (GRCm39)	L60P	probably damaging	Het
Vmn2r108	G	A	17: 20,691,252 (GRCm39)	H424Y	probably benign	Het
Wdr81	C	A	11: 75,336,788 (GRCm39)	E1534*	probably null	Het
Zc3h13	A	G	14: 75,567,635 (GRCm39)	E976G	probably damaging	Het
Zfp128	T	C	7: 12,623,956 (GRCm39)	L108P	possibly damaging	Het
Zfp644	T	C	5: 106,783,548 (GRCm39)	I1000V	possibly damaging	Het

Other mutations in Ppp3r2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Ppp3r2	APN	4	49,681,773 (GRCm39)	missense	possibly damaging	0.84
IGL03371:Ppp3r2	APN	4	49,681,630 (GRCm39)	missense	probably damaging	1.00
R0365:Ppp3r2	UTSW	4	49,681,902 (GRCm39)	missense	possibly damaging	0.77
R0928:Ppp3r2	UTSW	4	49,681,439 (GRCm39)	critical splice donor site	probably null
R1957:Ppp3r2	UTSW	4	49,681,726 (GRCm39)	missense	probably damaging	1.00
R2022:Ppp3r2	UTSW	4	49,681,723 (GRCm39)	missense	probably benign	0.02
R2023:Ppp3r2	UTSW	4	49,681,723 (GRCm39)	missense	probably benign	0.02
R6102:Ppp3r2	UTSW	4	49,682,022 (GRCm39)	intron	probably benign
R6385:Ppp3r2	UTSW	4	49,681,767 (GRCm39)	missense	possibly damaging	0.87
R8046:Ppp3r2	UTSW	4	49,681,913 (GRCm39)	nonsense	probably null
R8315:Ppp3r2	UTSW	4	49,681,705 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGATGCTCTTGTCCACCAGC -3'
(R):5'- AGGCCAGCTACCAAACTGAG -3'

Sequencing Primer
(F):5'- TGTCCACCAGCTGCTGCAG -3'
(R):5'- GCTACCAAACTGAGCTGTGC -3'

Posted On

2014-08-25