Mutagenetix > Incidental Mutations

Incidental Mutation 'R7209:Ppp3cc'

560961

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7209 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70217865-70289471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70267498 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 20 (F20L)

Ref Sequence

ENSEMBL: ENSMUSP00000077532 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000078434
AA Change: F20L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000077532
Gene: ENSMUSG00000022092
AA Change: F20L

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

probably benign
Transcript: ENSMUST00000228911
AA Change: F20L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	C	A	1: 105,750,357	P1136T	probably damaging	Het
Adam7	A	G	14: 68,529,819	Y61H	probably damaging	Het
Adgrb1	T	G	15: 74,569,948	V966G	possibly damaging	Het
Adh5	G	A	3: 138,443,148		probably benign	Het
Akr1b8	T	C	6: 34,356,272	V28A	probably damaging	Het
Apbb1	T	A	7: 105,566,085	I450F	probably damaging	Het
Arhgap23	G	C	11: 97,492,447		probably null	Het
Arhgap23	C	T	11: 97,476,085	T1064I	probably damaging	Het
Atg4b	A	G	1: 93,775,233	I128M	probably damaging	Het
B230118H07Rik	T	C	2: 101,566,382	*217W	probably null	Het
Baat	A	T	4: 49,503,065	I19N	probably damaging	Het
Bspry	T	G	4: 62,486,615	I216S	possibly damaging	Het
Commd9	T	A	2: 101,895,138	S19T	possibly damaging	Het
Cr2	A	G	1: 195,168,724	C145R	probably damaging	Het
Cyp2c68	A	G	19: 39,689,205	L447P	probably damaging	Het
Depdc1b	T	C	13: 108,382,855	M333T	possibly damaging	Het
Dhx9	T	C	1: 153,464,623	T710A	possibly damaging	Het
Dnah5	T	C	15: 28,459,225	V4530A	possibly damaging	Het
Dohh	T	A	10: 81,386,040	H89Q	probably damaging	Het
Dopey2	T	A	16: 93,769,845	N1171K	probably benign	Het
Dscam	T	C	16: 96,650,344		probably null	Het
Entpd5	T	A	12: 84,396,928	S14C	probably benign	Het
Eqtn	G	A	4: 94,925,569	S125F	probably damaging	Het
Erp44	A	T	4: 48,211,704	D197E	probably benign	Het
Fgf18	A	T	11: 33,134,315	D46E	probably benign	Het
Foxa1	T	A	12: 57,543,291	M48L	probably benign	Het
Gabrg1	C	A	5: 70,754,170	C417F	probably damaging	Het
Glrp1	T	A	1: 88,503,282	Q122L	unknown	Het
Gm5286	A	T	3: 94,198,705	Q110L	probably benign	Het
Gm5622	A	G	14: 51,655,906	I97V	possibly damaging	Het
Gusb	A	G	5: 129,998,546	V306A	probably benign	Het
Hars	A	G	18: 36,773,540	S126P	probably benign	Het
Herc1	A	G	9: 66,385,032	S356G	possibly damaging	Het
Hydin	C	A	8: 110,489,792	Y1336*	probably null	Het
Kin	T	C	2: 10,091,753	Y138H	possibly damaging	Het
Lypd2	C	T	15: 74,732,417	V101M	probably benign	Het
Madcam1	A	T	10: 79,665,058	T70S	possibly damaging	Het
Man1a2	A	G	3: 100,647,079	C112R	unknown	Het
Mia2	T	A	12: 59,154,390	V198E	possibly damaging	Het
Mpdz	C	T	4: 81,306,877	V1438M	possibly damaging	Het
Mtif2	G	A	11: 29,529,996	V21M	probably benign	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nln	G	A	13: 104,072,898	Q56*	probably null	Het
Nlrp4b	T	C	7: 10,710,370	V82A	probably benign	Het
Obscn	C	A	11: 59,085,107	E2065*	probably null	Het
Olfr1510	A	G	14: 52,410,093	C260R	possibly damaging	Het
Pilrb2	C	T	5: 137,870,864		probably null	Het
Plekhh1	C	A	12: 79,050,376	D99E	probably benign	Het
Polr2b	T	A	5: 77,343,179	F956I	probably damaging	Het
Prmt9	T	C	8: 77,564,998	V333A	probably benign	Het
Psd4	T	C	2: 24,397,345	S430P	probably damaging	Het
Rrp12	A	C	19: 41,872,949	V973G	possibly damaging	Het
Rxfp2	A	G	5: 150,053,098		probably null	Het
S100a6	G	A	3: 90,613,788	A8T	possibly damaging	Het
Sgsm2	C	A	11: 74,854,325	G717V	probably damaging	Het
Sipa1	A	G	19: 5,654,975	Y531H	probably damaging	Het
Slc45a1	A	C	4: 150,635,212		probably null	Het
Srbd1	C	A	17: 86,001,520	L743F	probably damaging	Het
Taar2	A	T	10: 23,940,699	I46F	possibly damaging	Het
Tcrg-C3	A	G	13: 19,261,164	N94S	probably benign	Het
Tmem241	A	T	18: 12,104,172	V69D	probably damaging	Het
Tns1	T	C	1: 73,953,915	S535G	possibly damaging	Het
Ttc34	C	A	4: 154,839,128	P98Q	probably damaging	Het
Ubr1	C	A	2: 120,862,765	R1720L	probably benign	Het
Ubr3	T	A	2: 70,016,134	D1597E	probably benign	Het
Unc79	T	C	12: 103,125,624	M1930T	probably benign	Het
Vmn2r100	A	T	17: 19,531,314	I603F	not run	Het
Vps26b	A	T	9: 27,009,992	S304T	probably benign	Het
Zfp952	A	T	17: 33,003,470	T308S	possibly damaging	Het

Other mutations in Ppp3cc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01125:Ppp3cc	APN	14	70218252	missense	probably damaging	0.99
IGL02182:Ppp3cc	APN	14	70225024	missense	probably benign	0.21
IGL02272:Ppp3cc	APN	14	70236489	missense	probably damaging	1.00
IGL03207:Ppp3cc	APN	14	70247582	missense	probably damaging	1.00
IGL03394:Ppp3cc	APN	14	70225028	nonsense	probably null
tomap	UTSW	14	70240948	missense	probably damaging	1.00
R0111:Ppp3cc	UTSW	14	70256359	critical splice donor site	probably null
R0625:Ppp3cc	UTSW	14	70225027	missense	probably damaging	0.99
R1368:Ppp3cc	UTSW	14	70245862	missense	probably damaging	1.00
R1484:Ppp3cc	UTSW	14	70240948	missense	probably damaging	1.00
R4757:Ppp3cc	UTSW	14	70218186	missense	possibly damaging	0.94
R6198:Ppp3cc	UTSW	14	70247611	missense	probably benign	0.20
R7042:Ppp3cc	UTSW	14	70225019	missense	probably benign	0.14
R7305:Ppp3cc	UTSW	14	70240803	missense	probably benign
R7406:Ppp3cc	UTSW	14	70245938	missense	possibly damaging	0.80
R7509:Ppp3cc	UTSW	14	70266682	missense	probably damaging	1.00
R7623:Ppp3cc	UTSW	14	70240945	missense	probably benign	0.37
R7814:Ppp3cc	UTSW	14	70225015	missense	possibly damaging	0.68
RF002:Ppp3cc	UTSW	14	70267339	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- AGCCTCCACCTCTATCATGG -3'
(R):5'- GTGGATGTAGTCATGAATGTACAGAC -3'

Sequencing Primer
(F):5'- ATCATGGTCTTCTCCTGCTTCAG -3'
(R):5'- GTAGTCATGAATGTACAGACAACCAC -3'

Posted On

2019-06-26