Mutagenetix > Incidental Mutation

Incidental Mutation 'R6531:Ppp1r12c'

522351

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12c

Ensembl Gene

ENSMUSG00000019254

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 12C

Synonyms

2410197A17Rik, Mbs85

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R6531 (G1)

Quality Score

225.009

Status

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 G at 4482789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013886] [ENSMUST00000086372] [ENSMUST00000124248] [ENSMUST00000163137] [ENSMUST00000163893] [ENSMUST00000171445] [ENSMUST00000164987]

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 benign
Transcript: ENSMUST00000086372

SMART Domains

Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154

Domain	Start	End	E-Value	Type
Pfam:PTB	35	165	2.1e-46	PFAM
low complexity region	282	304	N/A	INTRINSIC
SH3	480	535	2.62e-11	SMART
low complexity region	554	564	N/A	INTRINSIC
PDB:1WWU\|A	632	698	1e-19	PDB
low complexity region	701	715	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

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: ENSMUST00000147679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154710

Predicted Effect

probably benign
Transcript: ENSMUST00000163137

SMART Domains

Protein: ENSMUSP00000131345
Gene: ENSMUSG00000006154

Domain	Start	End	E-Value	Type
Pfam:PTB	35	100	1.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163893

SMART Domains

Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154

Domain	Start	End	E-Value	Type
Pfam:PTB	35	165	2.1e-46	PFAM
low complexity region	282	304	N/A	INTRINSIC
SH3	480	535	2.62e-11	SMART
low complexity region	554	564	N/A	INTRINSIC
PDB:1WWU\|A	632	698	1e-19	PDB
low complexity region	701	715	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171445

SMART Domains

Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154

Domain	Start	End	E-Value	Type
Pfam:PTB	96	226	5.8e-46	PFAM
low complexity region	343	365	N/A	INTRINSIC
SH3	541	596	2.62e-11	SMART
low complexity region	615	625	N/A	INTRINSIC
PDB:1WWU\|A	693	759	1e-19	PDB
low complexity region	762	776	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168924

Predicted Effect

probably benign
Transcript: ENSMUST00000164987

SMART Domains

Protein: ENSMUSP00000130665
Gene: ENSMUSG00000006154

Domain	Start	End	E-Value	Type
low complexity region	15	25	N/A	INTRINSIC

Meta Mutation Damage Score

0.9578

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.2%
20x: 90.6%

Validation Efficiency

100% (46/46)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,949,999	E880G	possibly damaging	Het
Acsbg2	T	A	17: 56,846,617	I529F	probably damaging	Het
Ahcyl2	T	G	6: 29,886,162	M359R	probably benign	Het
Aldh5a1	G	T	13: 24,918,564	D305E	probably benign	Het
Catsper2	C	G	2: 121,399,780	V358L	possibly damaging	Het
Cd200r4	C	T	16: 44,833,505	Q222*	probably null	Het
Col4a2	T	A	8: 11,408,135	D270E	probably benign	Het
Cux1	T	C	5: 136,275,119	D1401G	probably benign	Het
Cyp3a59	T	A	5: 146,098,217	M235K	probably benign	Het
Dock3	T	C	9: 106,967,216	D895G	probably benign	Het
Dusp27	A	T	1: 166,110,046		probably null	Het
Dync1h1	T	C	12: 110,617,920	F586L	probably damaging	Het
Elmo1	G	T	13: 20,572,446	R568L	possibly damaging	Het
Epb41	T	C	4: 131,957,636	T711A	probably benign	Het
Grm7	T	A	6: 111,358,425	M599K	probably benign	Het
Hivep3	A	T	4: 120,122,876	K1704*	probably null	Het
Ighv1-62-3	C	A	12: 115,461,006	C115F	probably damaging	Het
Krt78	A	G	15: 101,952,273	Y200H	probably benign	Het
Lamb2	A	T	9: 108,483,726	H549L	possibly damaging	Het
Mroh3	A	G	1: 136,184,353	I759T	probably benign	Het
Ncbp2	CGTCTGGATG	CG	16: 31,956,343		probably null	Het
Nol6	G	T	4: 41,118,154	P828T	probably benign	Het
Olfr1030	A	G	2: 85,984,307	I156V	probably benign	Het
Olfr1132	A	G	2: 87,635,529	Y73H	probably damaging	Het
Olfr1264	A	G	2: 90,021,457	V203A	probably benign	Het
Olfr344	G	A	2: 36,569,341	V248I	probably damaging	Het
Ovgp1	A	C	3: 105,987,071		probably benign	Het
Pitpnm3	T	A	11: 72,071,487	Q230L	possibly damaging	Het
Pkn1	C	T	8: 83,670,293	V910I	probably benign	Het
Plcb1	T	A	2: 135,325,802		probably null	Het
Rassf5	T	A	1: 131,244,814	Q106L	possibly damaging	Het
Rfc1	T	C	5: 65,312,979	K62E	possibly damaging	Het
Sf3b1	C	T	1: 55,019,395	E12K	probably damaging	Het
Slc4a1ap	A	T	5: 31,548,638	D691V	probably benign	Het
Speg	T	A	1: 75,422,757	F2283I	probably benign	Het
Synj2	A	G	17: 6,033,839	K267E	probably damaging	Het
Tg	A	T	15: 66,839,362	Y991F	probably damaging	Het
Tlk1	A	T	2: 70,742,083	D380E	probably benign	Het
Trim43b	A	T	9: 89,085,365	L405H	probably damaging	Het
Ttf2	A	G	3: 100,956,260	I586T	probably damaging	Het
Ugt2b36	T	A	5: 87,081,586	R213S	probably damaging	Het
Vmn1r198	T	A	13: 22,354,407	M21K	probably benign	Het
Wdr35	A	T	12: 8,978,685	Y101F	probably benign	Het
Zfp367	T	C	13: 64,144,250	Y189C	probably damaging	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
R5561:Ppp1r12c	UTSW	7	4486356	critical splice donor site	probably null
R5739:Ppp1r12c	UTSW	7	4497282	missense	probably damaging	1.00
R5837:Ppp1r12c	UTSW	7	4497404	intron	probably benign
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'- CAACACACTTATACCTGCGTGG -3'
(R):5'- CAGGTAGACTGGGTCATGTG -3'

Sequencing Primer
(F):5'- ACCTTGAGCTGTGCCAGAC -3'
(R):5'- GTGGAGGCTGGGACACATTTC -3'

Posted On

2018-06-06