Mutagenetix > Incidental Mutation

Incidental Mutation 'R7406:Ppp3cc'

574764

Institutional Source

Beutler Lab

Gene Symbol

Ppp3cc

Ensembl Gene

ENSMUSG00000022092

Gene Name

protein phosphatase 3, catalytic subunit, gamma isoform

Synonyms

Calnc, PP2BA gamma

MMRRC Submission

045487-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7406 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70455314-70526920 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70483387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 229 (S229T)

Ref Sequence

ENSEMBL: ENSMUSP00000077532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078434] [ENSMUST00000228911]

AlphaFold

P48455

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078434
AA Change: S229T

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077532
Gene: ENSMUSG00000022092
AA Change: S229T

Domain	Start	End	E-Value	Type
PP2Ac	52	343	4e-151	SMART
low complexity region	413	433	N/A	INTRINSIC
low complexity region	492	500	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228911
AA Change: S229T

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 85,974,231 (GRCm39)	S183P	possibly damaging	Het
2900092C05Rik	A	G	7: 12,249,391 (GRCm39)	T75A	possibly damaging	Het
Abhd8	A	G	8: 71,914,406 (GRCm39)	V74A	probably benign	Het
Agrn	A	C	4: 156,256,758 (GRCm39)	S1282R	possibly damaging	Het
Atf5	T	C	7: 44,462,380 (GRCm39)	N248S	possibly damaging	Het
Atp2a3	A	G	11: 72,869,576 (GRCm39)	Y497C	probably damaging	Het
Bpifa2	T	G	2: 153,851,739 (GRCm39)	S58R	probably benign	Het
Cacna1h	C	T	17: 25,604,600 (GRCm39)	E1238K	possibly damaging	Het
Ccdc71	T	A	9: 108,340,523 (GRCm39)	L112*	probably null	Het
Cd300e	A	T	11: 114,946,128 (GRCm39)	I111N	probably damaging	Het
Cdkl3	A	T	11: 51,924,369 (GRCm39)	E552D	probably benign	Het
Chst5	A	G	8: 112,617,245 (GRCm39)	V125A	probably benign	Het
Clock	A	T	5: 76,414,692 (GRCm39)	M1K	probably null	Het
Cops7b	T	A	1: 86,528,852 (GRCm39)	L193Q	probably benign	Het
Csmd1	T	C	8: 16,338,707 (GRCm39)	T467A	probably damaging	Het
Ctr9	A	G	7: 110,652,615 (GRCm39)	E971G	unknown	Het
Dcp2	A	G	18: 44,543,254 (GRCm39)	T271A	probably benign	Het
Dsp	A	G	13: 38,381,172 (GRCm39)	N2639S	possibly damaging	Het
Fhip1a	T	C	3: 85,637,784 (GRCm39)	I172V	probably benign	Het
Gm11168	C	G	9: 3,006,912 (GRCm39)	C212W	probably benign	Het
Gpr179	G	T	11: 97,242,420 (GRCm39)	D141E	probably damaging	Het
H2bc4	A	G	13: 23,868,342 (GRCm39)	Y43C	probably damaging	Het
Hdhd2	C	T	18: 77,031,811 (GRCm39)	T89M	probably benign	Het
Krt6b	T	G	15: 101,587,513 (GRCm39)	T194P	probably benign	Het
Lrp1b	T	C	2: 41,266,030 (GRCm39)		probably null	Het
Maneal	A	T	4: 124,754,161 (GRCm39)	I214N	possibly damaging	Het
Map1lc3b	T	A	8: 122,317,355 (GRCm39)	C11S	unknown	Het
Mapt	G	A	11: 104,213,350 (GRCm39)	G296E	possibly damaging	Het
Mgam	A	G	6: 40,640,459 (GRCm39)	N509S	probably benign	Het
Mrgprx1	T	A	7: 47,671,733 (GRCm39)	I5F	possibly damaging	Het
Mroh5	T	C	15: 73,659,583 (GRCm39)	D416G	probably benign	Het
Ncan	T	G	8: 70,562,749 (GRCm39)	D503A	probably benign	Het
Nedd1	A	T	10: 92,547,185 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,298,351 (GRCm39)	T641A	probably benign	Het
Or2b6	T	C	13: 21,823,316 (GRCm39)	I126V	probably benign	Het
Or4k2	T	A	14: 50,424,015 (GRCm39)	I221F	probably damaging	Het
Or6c219	A	T	10: 129,781,435 (GRCm39)	D50E	probably benign	Het
Or8b1b	T	A	9: 38,375,439 (GRCm39)	M34K	possibly damaging	Het
Pcdhga8	A	C	18: 37,859,238 (GRCm39)	Q98P	possibly damaging	Het
Pik3c2a	A	G	7: 115,953,242 (GRCm39)	Y1218H	probably damaging	Het
Prss43	T	G	9: 110,657,764 (GRCm39)	I221S	probably damaging	Het
Rasal1	A	T	5: 120,801,002 (GRCm39)	T221S	probably benign	Het
Serpinb9f	G	T	13: 33,518,543 (GRCm39)	E348*	probably null	Het
Sfxn5	A	G	6: 85,244,889 (GRCm39)	Y169H	probably damaging	Het
Skint9	T	C	4: 112,246,428 (GRCm39)	N228S	probably benign	Het
Slx4ip	A	T	2: 136,842,162 (GRCm39)	D29V	probably damaging	Het
Snx29	G	T	16: 11,573,180 (GRCm39)	G474V	probably damaging	Het
Spata6	T	A	4: 111,638,017 (GRCm39)	D282E	possibly damaging	Het
Srek1	A	T	13: 103,905,890 (GRCm39)	V77E	probably damaging	Het
Timd6	A	G	11: 46,468,285 (GRCm39)	T120A	possibly damaging	Het
Tmt1a3	T	C	15: 100,233,289 (GRCm39)	V160A	probably benign	Het
Tnfrsf22	T	C	7: 143,194,564 (GRCm39)	D121G	probably damaging	Het
Ucma	G	A	2: 4,990,170 (GRCm39)	W122*	probably null	Het
Vmn2r124	T	C	17: 18,282,306 (GRCm39)	M113T	unknown	Het
Vmn2r54	A	T	7: 12,350,150 (GRCm39)		probably null	Het
Vmn2r8	A	G	5: 108,948,442 (GRCm39)	L482S	probably benign	Het
Vwa3a	T	A	7: 120,378,138 (GRCm39)	I476N	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr26	A	T	1: 181,015,240 (GRCm39)	S390R	probably damaging	Het
Zbtb40	A	T	4: 136,728,205 (GRCm39)	S471T	probably benign	Het

Other mutations in Ppp3cc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01125:Ppp3cc	APN	14	70,455,701 (GRCm39)	missense	probably damaging	0.99
IGL02182:Ppp3cc	APN	14	70,462,473 (GRCm39)	missense	probably benign	0.21
IGL02272:Ppp3cc	APN	14	70,473,938 (GRCm39)	missense	probably damaging	1.00
IGL03207:Ppp3cc	APN	14	70,485,031 (GRCm39)	missense	probably damaging	1.00
IGL03394:Ppp3cc	APN	14	70,462,477 (GRCm39)	nonsense	probably null
tomap	UTSW	14	70,478,397 (GRCm39)	missense	probably damaging	1.00
R0111:Ppp3cc	UTSW	14	70,493,808 (GRCm39)	critical splice donor site	probably null
R0625:Ppp3cc	UTSW	14	70,462,476 (GRCm39)	missense	probably damaging	0.99
R1368:Ppp3cc	UTSW	14	70,483,311 (GRCm39)	missense	probably damaging	1.00
R1484:Ppp3cc	UTSW	14	70,478,397 (GRCm39)	missense	probably damaging	1.00
R4757:Ppp3cc	UTSW	14	70,455,635 (GRCm39)	missense	possibly damaging	0.94
R6198:Ppp3cc	UTSW	14	70,485,060 (GRCm39)	missense	probably benign	0.20
R7042:Ppp3cc	UTSW	14	70,462,468 (GRCm39)	missense	probably benign	0.14
R7209:Ppp3cc	UTSW	14	70,504,947 (GRCm39)	missense	probably benign	0.00
R7305:Ppp3cc	UTSW	14	70,478,252 (GRCm39)	missense	probably benign
R7509:Ppp3cc	UTSW	14	70,504,131 (GRCm39)	missense	probably damaging	1.00
R7623:Ppp3cc	UTSW	14	70,478,394 (GRCm39)	missense	probably benign	0.37
R7814:Ppp3cc	UTSW	14	70,462,464 (GRCm39)	missense	possibly damaging	0.68
R8700:Ppp3cc	UTSW	14	70,474,001 (GRCm39)	missense	probably damaging	1.00
R9381:Ppp3cc	UTSW	14	70,462,441 (GRCm39)	missense	probably benign	0.40
RF002:Ppp3cc	UTSW	14	70,504,788 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- CAGGTGTGGTGGCAAGATTAATTTC -3'
(R):5'- ACGGCCTCATCTGCAATAC -3'

Sequencing Primer
(F):5'- ACACTGGGTGGTTCACAACTG -3'
(R):5'- CTGCAATACTTTCCTGTAGGGAGAAG -3'

Posted On

2019-10-07