Mutagenetix > Incidental Mutation

Incidental Mutation 'R5561:Ppp1r12c'

436592

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12c

Ensembl Gene

ENSMUSG00000019254

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 12C

Synonyms

2410197A17Rik, Mbs85

MMRRC Submission

043118-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R5561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4481520-4501680 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 4486356 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013886] [ENSMUST00000013886] [ENSMUST00000124248] [ENSMUST00000124248] [ENSMUST00000125220]

AlphaFold

Q3UMT1

Predicted Effect

probably null
Transcript: ENSMUST00000013886

SMART Domains

Protein: ENSMUSP00000013886
Gene: ENSMUSG00000019254

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	74	97	N/A	INTRINSIC
ANK	104	133	3.71e-4	SMART
ANK	137	166	3.43e-8	SMART
low complexity region	205	210	N/A	INTRINSIC
ANK	230	259	7.95e-4	SMART
ANK	263	292	2.41e-3	SMART
low complexity region	369	385	N/A	INTRINSIC
low complexity region	401	413	N/A	INTRINSIC
internal_repeat_2	450	508	2.86e-5	PROSPERO
internal_repeat_2	545	599	2.86e-5	PROSPERO
low complexity region	631	649	N/A	INTRINSIC
Pfam:PRKG1_interact	682	782	9.7e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000013886

SMART Domains

Protein: ENSMUSP00000013886
Gene: ENSMUSG00000019254

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	74	97	N/A	INTRINSIC
ANK	104	133	3.71e-4	SMART
ANK	137	166	3.43e-8	SMART
low complexity region	205	210	N/A	INTRINSIC
ANK	230	259	7.95e-4	SMART
ANK	263	292	2.41e-3	SMART
low complexity region	369	385	N/A	INTRINSIC
low complexity region	401	413	N/A	INTRINSIC
internal_repeat_2	450	508	2.86e-5	PROSPERO
internal_repeat_2	545	599	2.86e-5	PROSPERO
low complexity region	631	649	N/A	INTRINSIC
Pfam:PRKG1_interact	682	782	9.7e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000124248

SMART Domains

Protein: ENSMUSP00000120029
Gene: ENSMUSG00000019254

Domain	Start	End	E-Value	Type
ANK	25	54	3.71e-4	SMART
ANK	58	87	3.43e-8	SMART
low complexity region	126	131	N/A	INTRINSIC
ANK	151	180	7.95e-4	SMART
ANK	184	213	2.41e-3	SMART
low complexity region	290	306	N/A	INTRINSIC
low complexity region	322	334	N/A	INTRINSIC
PDB:2KJY\|A	445	498	3e-11	PDB
low complexity region	553	571	N/A	INTRINSIC
coiled coil region	604	704	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000124248

SMART Domains

Protein: ENSMUSP00000120029
Gene: ENSMUSG00000019254

Domain	Start	End	E-Value	Type
ANK	25	54	3.71e-4	SMART
ANK	58	87	3.43e-8	SMART
low complexity region	126	131	N/A	INTRINSIC
ANK	151	180	7.95e-4	SMART
ANK	184	213	2.41e-3	SMART
low complexity region	290	306	N/A	INTRINSIC
low complexity region	322	334	N/A	INTRINSIC
PDB:2KJY\|A	445	498	3e-11	PDB
low complexity region	553	571	N/A	INTRINSIC
coiled coil region	604	704	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154710

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	C	A	14: 95,882,371	A188E	probably benign	Het
A630095N17Rik	T	C	1: 75,220,537		probably benign	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adgrv1	A	G	13: 81,476,564	L3762P	probably damaging	Het
Amn1	G	A	6: 149,185,024	R4W	probably damaging	Het
Atxn1	G	T	13: 45,566,871	T516N	possibly damaging	Het
Atxn7	A	T	14: 14,089,260	T259S	probably benign	Het
Bsn	C	G	9: 108,105,511	R3681P	unknown	Het
C8b	T	C	4: 104,784,448	Y194H	possibly damaging	Het
Ccdc110	T	G	8: 45,940,609	S119R	probably benign	Het
Ceacam20	A	T	7: 19,970,393	Q123L	possibly damaging	Het
Clip3	A	G	7: 30,298,849	D240G	possibly damaging	Het
Col24a1	T	C	3: 145,298,827	F22S	probably benign	Het
Dlg5	T	A	14: 24,177,792	M354L	probably benign	Het
Dnajb12	GC	G	10: 59,892,752		probably null	Het
Dnase1l3	A	G	14: 7,967,847	V282A	probably damaging	Het
Dnhd1	G	A	7: 105,714,821	G4127S	probably damaging	Het
Eed	G	A	7: 89,967,793	R165W	probably damaging	Het
Ephb2	C	T	4: 136,661,406	V627M	probably damaging	Het
Fancc	T	C	13: 63,317,387	E502G	possibly damaging	Het
Fbf1	T	C	11: 116,157,820	D105G	probably damaging	Het
Fer	T	A	17: 64,037,585	Y246*	probably null	Het
Fer1l6	A	G	15: 58,660,825	K1792E	probably damaging	Het
Foxi2	A	G	7: 135,411,647	D202G	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
H2-DMb2	G	T	17: 34,145,471		probably null	Het
Helq	G	T	5: 100,787,050	D491E	probably benign	Het
Hgsnat	A	G	8: 25,946,334	V564A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hs3st5	T	A	10: 36,833,429	V320D	probably damaging	Het
Ifit1bl1	A	T	19: 34,593,797	L420*	probably null	Het
Ift80	T	G	3: 68,967,863	N178T	probably benign	Het
Ing4	C	T	6: 125,047,060	T89I	possibly damaging	Het
Lcp1	G	A	14: 75,212,508	D386N	probably benign	Het
Mdc1	T	A	17: 35,848,546	I606K	probably benign	Het
Mllt10	T	A	2: 18,109,845	M120K	probably damaging	Het
Morc1	G	T	16: 48,449,348	L89F	probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Nav3	C	A	10: 109,716,552	D1810Y	probably damaging	Het
Obscn	G	A	11: 59,036,093	T5532M	probably damaging	Het
Olfr527	C	T	7: 140,336,152	Q97*	probably null	Het
Olfr716	A	G	7: 107,148,090	N258S	probably benign	Het
Opn3	C	T	1: 175,665,587	R137H	probably damaging	Het
Palld	G	A	8: 61,516,585	A993V	probably damaging	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,893,123		probably null	Het
Rapgef2	A	T	3: 79,088,643		probably null	Het
Ring1	T	C	17: 34,021,458	E382G	possibly damaging	Het
Rpl22l1	T	A	3: 28,806,820	N61K	probably benign	Het
Rpp14	A	G	14: 8,090,558		probably null	Het
Rusc2	C	T	4: 43,415,932	Q413*	probably null	Het
Slco3a1	A	G	7: 74,318,499	I491T	possibly damaging	Het
Smtnl1	C	T	2: 84,818,395	V172I	probably benign	Het
Spats2l	T	A	1: 57,900,621		probably null	Het
Spire1	T	A	18: 67,506,646	N266Y	probably damaging	Het
Stox2	T	C	8: 47,193,006	H473R	probably damaging	Het
Syne2	C	T	12: 76,094,458	R121*	probably null	Het
Synrg	G	A	11: 84,002,240		probably null	Het
Tm9sf1	C	T	14: 55,638,097	V397M	probably damaging	Het
Trabd	T	C	15: 89,081,984	M48T	probably benign	Het
Ttn	T	A	2: 76,707,233	I26457F	possibly damaging	Het
Uggt2	C	T	14: 119,041,527	R856Q	probably benign	Het
Ugt1a5	T	A	1: 88,166,317	M89K	probably benign	Het
Vmn2r53	A	T	7: 12,601,420	S104R	probably damaging	Het
Zdhhc12	A	T	2: 30,092,484	L53Q	probably null	Het

Other mutations in Ppp1r12c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Ppp1r12c	APN	7	4497345	splice site	probably benign
IGL01419:Ppp1r12c	APN	7	4486352	splice site	probably null
IGL02126:Ppp1r12c	APN	7	4489859	missense	probably benign	0.43
IGL03388:Ppp1r12c	APN	7	4482070	unclassified	probably benign
PIT4418001:Ppp1r12c	UTSW	7	4501267	missense	probably null	0.09
R0523:Ppp1r12c	UTSW	7	4489772	missense	probably damaging	1.00
R0815:Ppp1r12c	UTSW	7	4486366	missense	probably damaging	1.00
R0863:Ppp1r12c	UTSW	7	4486366	missense	probably damaging	1.00
R1413:Ppp1r12c	UTSW	7	4484444	splice site	probably null
R1522:Ppp1r12c	UTSW	7	4497425	missense	probably damaging	1.00
R1835:Ppp1r12c	UTSW	7	4483651	missense	probably damaging	1.00
R2004:Ppp1r12c	UTSW	7	4482975	nonsense	probably null
R2170:Ppp1r12c	UTSW	7	4482806	missense	possibly damaging	0.76
R3787:Ppp1r12c	UTSW	7	4486584	missense	probably damaging	1.00
R3833:Ppp1r12c	UTSW	7	4482786	unclassified	probably benign
R4093:Ppp1r12c	UTSW	7	4483367	missense	probably damaging	0.99
R4095:Ppp1r12c	UTSW	7	4483367	missense	probably damaging	0.99
R4108:Ppp1r12c	UTSW	7	4486566	missense	probably damaging	1.00
R5177:Ppp1r12c	UTSW	7	4484496	nonsense	probably null
R5319:Ppp1r12c	UTSW	7	4483984	missense	probably benign	0.01
R5739:Ppp1r12c	UTSW	7	4497282	missense	probably damaging	1.00
R5837:Ppp1r12c	UTSW	7	4497404	intron	probably benign
R6531:Ppp1r12c	UTSW	7	4482789	critical splice donor site	probably null
R7207:Ppp1r12c	UTSW	7	4489868	missense	probably damaging	1.00
R7507:Ppp1r12c	UTSW	7	4483971	missense	probably benign	0.01
R7920:Ppp1r12c	UTSW	7	4483355	missense	probably benign	0.00
R7934:Ppp1r12c	UTSW	7	4485417	nonsense	probably null
R8391:Ppp1r12c	UTSW	7	4497432	missense	probably damaging	1.00
R8397:Ppp1r12c	UTSW	7	4489769	missense	probably damaging	0.98
R8793:Ppp1r12c	UTSW	7	4482888	missense	probably benign
R8851:Ppp1r12c	UTSW	7	4484704	missense	probably damaging	1.00
R8974:Ppp1r12c	UTSW	7	4483699	missense	probably damaging	1.00
R9114:Ppp1r12c	UTSW	7	4482793	missense	possibly damaging	0.83
Z1177:Ppp1r12c	UTSW	7	4484629	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- CTGAAATTCCAGCCCATGCC -3'
(R):5'- AGCTGGCTATGACACAGAGC -3'

Sequencing Primer
(F):5'- ATCTGCCTGGGACCTGCATC -3'
(R):5'- CTATGACACAGAGCTCCGGGATG -3'

Posted On

2016-10-24