Mutagenetix > Incidental Mutation

Incidental Mutation 'R1223:Ppp1cc'

152796

Institutional Source

Beutler Lab

Gene Symbol

Ppp1cc

Ensembl Gene

ENSMUSG00000004455

Gene Name

protein phosphatase 1 catalytic subunit gamma

Synonyms

PP1, PP1C gamma, PP1C gamma 2, PP1C gamma 1

MMRRC Submission

039292-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1223 (G1)

Quality Score

165

Status

Not validated

Chromosome

Chromosomal Location

122296341-122313336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122306277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 32 (E32G)

Ref Sequence

ENSEMBL: ENSMUSP00000143509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086294] [ENSMUST00000102528] [ENSMUST00000128309] [ENSMUST00000132555]

AlphaFold

P63087

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086294
AA Change: E32G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083474
Gene: ENSMUSG00000004455
AA Change: E32G

Domain	Start	End	E-Value	Type
PP2Ac	30	300	6.44e-164	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102528
AA Change: E32G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099587
Gene: ENSMUSG00000004455
AA Change: E32G

Domain	Start	End	E-Value	Type
PP2Ac	30	300	6.44e-164	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000128309
AA Change: E32G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142415
Gene: ENSMUSG00000004455
AA Change: E32G

Domain	Start	End	E-Value	Type
PP2Ac	30	272	1.5e-116	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000132555
AA Change: E32G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143509
Gene: ENSMUSG00000004455
AA Change: E32G

Domain	Start	End	E-Value	Type
PP2Ac	30	272	1.5e-116	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133568

Predicted Effect

probably benign
Transcript: ENSMUST00000134719

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135090

Predicted Effect

unknown
Transcript: ENSMUST00000197730
AA Change: E21G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142562

Predicted Effect

probably benign
Transcript: ENSMUST00000151184

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit male infertility due to severely impaired spermiogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	A	T	16: 4,116,612 (GRCm39)	V873E	probably damaging	Het
Arl10	A	G	13: 54,726,744 (GRCm39)	D174G	probably damaging	Het
Cd180	A	T	13: 102,842,730 (GRCm39)	Y592F	possibly damaging	Het
Ces3a	A	T	8: 105,784,661 (GRCm39)	T548S	probably benign	Het
Chd2	T	C	7: 73,134,265 (GRCm39)	E694G	probably damaging	Het
Commd3	T	C	2: 18,679,779 (GRCm39)	Y163H	probably benign	Het
Cyp8b1	A	G	9: 121,744,070 (GRCm39)	S421P	possibly damaging	Het
Cysltr2	A	T	14: 73,267,539 (GRCm39)	V57E	probably damaging	Het
Ddx47	G	A	6: 134,989,277 (GRCm39)	V34I	possibly damaging	Het
Dgkz	T	C	2: 91,769,660 (GRCm39)		probably benign	Het
Dsg2	G	T	18: 20,706,550 (GRCm39)	C22F	probably benign	Het
Gbp10	A	C	5: 105,366,867 (GRCm39)	V455G	probably damaging	Het
Gm12185	T	A	11: 48,798,103 (GRCm39)	I797F	probably damaging	Het
Katnip	T	A	7: 125,359,595 (GRCm39)	V62E	possibly damaging	Het
Lrrk2	A	G	15: 91,557,838 (GRCm39)	E58G	probably benign	Het
Mrgprb1	A	G	7: 48,097,435 (GRCm39)	V159A	possibly damaging	Het
Mybphl	A	G	3: 108,282,512 (GRCm39)	T182A	possibly damaging	Het
Or52e7	A	T	7: 104,684,773 (GRCm39)	I123F	probably benign	Het
Or9m1	G	A	2: 87,733,163 (GRCm39)	P286S	probably damaging	Het
Osr1	C	T	12: 9,629,699 (GRCm39)	L191F	probably damaging	Het
Pip4k2b	G	A	11: 97,609,720 (GRCm39)	R406C	probably damaging	Het
Plce1	C	T	19: 38,690,457 (GRCm39)	L714F	probably damaging	Het
Plce1	T	C	19: 38,755,670 (GRCm39)	F1886S	probably damaging	Het
Rnh1	A	G	7: 140,743,120 (GRCm39)	L260P	probably damaging	Het
Serpinb3a	T	A	1: 106,975,282 (GRCm39)	N175I	probably damaging	Het
Sptbn5	T	A	2: 119,902,525 (GRCm39)	I68F	probably damaging	Het
Tas1r2	A	T	4: 139,387,515 (GRCm39)	T325S	probably damaging	Het
Tcirg1	T	C	19: 3,948,733 (GRCm39)	N484S	probably benign	Het
Tenm3	A	T	8: 48,693,431 (GRCm39)	M1833K	possibly damaging	Het
Thoc5	A	G	11: 4,871,922 (GRCm39)	E449G	probably benign	Het
Usp34	A	G	11: 23,396,464 (GRCm39)		probably null	Het

Other mutations in Ppp1cc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02747:Ppp1cc	APN	5	122,312,136 (GRCm39)	missense	probably benign	0.02
R0524:Ppp1cc	UTSW	5	122,310,833 (GRCm39)	nonsense	probably null
R2926:Ppp1cc	UTSW	5	122,312,151 (GRCm39)	missense	probably benign
R2999:Ppp1cc	UTSW	5	122,312,151 (GRCm39)	missense	probably benign
R4133:Ppp1cc	UTSW	5	122,306,289 (GRCm39)	missense	probably benign	0.08
R8031:Ppp1cc	UTSW	5	122,312,151 (GRCm39)	missense	probably benign
R9063:Ppp1cc	UTSW	5	122,306,279 (GRCm39)	missense	probably benign
Z1088:Ppp1cc	UTSW	5	122,310,816 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GGAGCTGCTGTAAAGGAGCCTAAC -3'
(R):5'- ATACCCACCTAGACTGTGCGACTC -3'

Sequencing Primer
(F):5'- CTGTAAAGGAGCCTAACATAGCTTG -3'
(R):5'- TGCTCCTACAGCAGAGTGAG -3'

Posted On

2014-01-29