Mutagenetix > Incidental Mutation

Incidental Mutation 'R6198:Ppp3cc'

503060

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

044338-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6198 (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 70485060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 198 (M198K)

Ref Sequence

ENSEMBL: ENSMUSP00000077532 (fasta)

Gene Model

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

AlphaFold

P48455

Predicted Effect

probably benign
Transcript: ENSMUST00000078434
AA Change: M198K

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000077532
Gene: ENSMUSG00000022092
AA Change: M198K

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

noncoding transcript
Transcript: ENSMUST00000226259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228265

Predicted Effect

probably benign
Transcript: ENSMUST00000228911
AA Change: M198K

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

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

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,210,499 (GRCm39)		probably null	Het
2610318N02Rik	A	G	16: 16,936,233 (GRCm39)	S164P	probably damaging	Het
Acsbg3	A	G	17: 57,189,679 (GRCm39)	S265G	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adam19	A	C	11: 46,012,329 (GRCm39)	N275T	probably damaging	Het
Adgrg7	T	A	16: 56,597,556 (GRCm39)	T84S	possibly damaging	Het
Asl	C	T	5: 130,047,757 (GRCm39)	V70I	probably benign	Het
Atp2c1	A	G	9: 105,398,271 (GRCm39)	S26P	probably benign	Het
Bcas3	A	T	11: 85,400,261 (GRCm39)	D410V	probably damaging	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Ccdc15	A	C	9: 37,225,581 (GRCm39)		probably null	Het
Cfh	A	G	1: 140,033,178 (GRCm39)	S789P	probably damaging	Het
Cltc	T	C	11: 86,611,188 (GRCm39)	N561S	probably benign	Het
Cnst	A	G	1: 179,420,430 (GRCm39)	Q187R	probably damaging	Het
Csmd3	T	C	15: 48,177,273 (GRCm39)	T422A	probably benign	Het
Cyp2c55	A	T	19: 38,995,565 (GRCm39)	R26*	probably null	Het
Dgkb	A	T	12: 38,223,822 (GRCm39)	M414L	probably benign	Het
Dgkd	A	G	1: 87,851,930 (GRCm39)	D444G	probably damaging	Het
Dipk1b	A	G	2: 26,525,710 (GRCm39)	K215E	probably damaging	Het
Dnmt3c	T	C	2: 153,561,929 (GRCm39)	V544A	noncoding transcript	Het
Dus3l	A	T	17: 57,074,858 (GRCm39)	T327S	possibly damaging	Het
Elf2	A	T	3: 51,184,670 (GRCm39)	L5Q	probably damaging	Het
Fxyd6	A	G	9: 45,301,968 (GRCm39)	Y30C	probably damaging	Het
Gcc2	A	T	10: 58,128,412 (GRCm39)	T1375S	probably benign	Het
Git2	A	T	5: 114,883,556 (GRCm39)	Y393*	probably null	Het
Gm14403	AAACCCTA	AA	2: 177,201,448 (GRCm39)		probably benign	Het
Golgb1	T	C	16: 36,713,757 (GRCm39)	L246P	probably damaging	Het
Grp	G	T	18: 66,013,057 (GRCm39)	Q74H	possibly damaging	Het
Ifi203	A	T	1: 173,751,648 (GRCm39)	M391K	probably damaging	Het
Itih2	A	G	2: 10,103,352 (GRCm39)	Y712H	probably benign	Het
Kdm5a	T	A	6: 120,415,958 (GRCm39)	V1626E	probably benign	Het
Klhl40	A	G	9: 121,607,833 (GRCm39)	Y331C	probably damaging	Het
Kprp	T	A	3: 92,731,994 (GRCm39)	Y352F	probably damaging	Het
Lama2	G	T	10: 27,064,018 (GRCm39)	H1286Q	probably damaging	Het
Lgi4	T	A	7: 30,768,547 (GRCm39)		probably null	Het
Lrrc47	A	T	4: 154,100,129 (GRCm39)	N235I	probably damaging	Het
Lrrc74b	T	A	16: 17,366,650 (GRCm39)	I308F	probably damaging	Het
Map7d1	T	A	4: 126,135,636 (GRCm39)	K135M	probably damaging	Het
Marchf5	A	G	19: 37,188,140 (GRCm39)	R36G	probably damaging	Het
Mtx3	C	A	13: 92,989,359 (GRCm39)	P299Q	probably benign	Het
Muc21	T	A	17: 35,931,808 (GRCm39)		probably benign	Het
Ncapd2	C	A	6: 125,156,286 (GRCm39)	E500*	probably null	Het
Nckap5l	T	C	15: 99,323,869 (GRCm39)	K878R	probably damaging	Het
Nphs1	T	C	7: 30,167,340 (GRCm39)	I756T	probably damaging	Het
Olfm4	T	G	14: 80,237,813 (GRCm39)	S17A	probably benign	Het
Or1j15	A	G	2: 36,458,963 (GRCm39)	M118V	probably damaging	Het
Or4b1	A	T	2: 89,979,782 (GRCm39)	D189E	probably damaging	Het
Pak1ip1	G	T	13: 41,154,886 (GRCm39)	Q27H	probably benign	Het
Piezo2	A	T	18: 63,290,281 (GRCm39)	C159*	probably null	Het
Pkn2	G	T	3: 142,516,165 (GRCm39)	T538K	probably benign	Het
Rrm1	T	G	7: 102,095,936 (GRCm39)		probably null	Het
Setd3	T	C	12: 108,131,427 (GRCm39)	K7E	possibly damaging	Het
Shc1	A	G	3: 89,329,414 (GRCm39)	K86R	probably benign	Het
Slc16a7	T	C	10: 125,064,084 (GRCm39)	T418A	probably benign	Het
Spocd1	C	T	4: 129,849,208 (GRCm39)	P676S	probably damaging	Het
Spp1	A	G	5: 104,587,374 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,252,269 (GRCm39)	Y2462H	probably damaging	Het
Tiam2	T	C	17: 3,464,396 (GRCm39)	S42P	probably benign	Het
Tmem63b	C	T	17: 45,972,442 (GRCm39)	V722I	probably benign	Het
Ubqln1	A	G	13: 58,344,404 (GRCm39)	S130P	probably benign	Het
Usp34	G	T	11: 23,434,127 (GRCm39)	L3215F	probably damaging	Het
Uvssa	A	G	5: 33,566,854 (GRCm39)	Y517C	probably damaging	Het
Vps13d	A	T	4: 144,875,560 (GRCm39)	F1649Y	probably benign	Het
Zfp236	A	G	18: 82,675,278 (GRCm39)	S405P	probably damaging	Het
Zfp9	T	C	6: 118,454,282 (GRCm39)	M1V	probably null	Het
Zfp946	A	T	17: 22,673,896 (GRCm39)	S217C	probably damaging	Het
Zfp970	T	A	2: 177,167,253 (GRCm39)	C276S	probably damaging	Het
Zswim5	T	A	4: 116,735,204 (GRCm39)	F183Y	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
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
R7406:Ppp3cc	UTSW	14	70,483,387 (GRCm39)	missense	possibly damaging	0.80
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'- ACAGTGACAAGATTATGAGTCAGTC -3'
(R):5'- AGACTTGCCTGTAACCAGTGG -3'

Sequencing Primer
(F):5'- AGATTATGAGTCAGTCCCGTATTTC -3'
(R):5'- TGTAACCAGTGGCTTCCGAG -3'

Posted On

2018-02-27