Mutagenetix > Incidental Mutation

Incidental Mutation 'R1835:Ppp1r12c'

205164

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12c

Ensembl Gene

ENSMUSG00000019254

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 12C

Synonyms

2410197A17Rik, Mbs85

MMRRC Submission

039862-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R1835 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

4481520-4501680 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 4483651 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 480 (S480A)

Ref Sequence

ENSEMBL: ENSMUSP00000120029 (fasta)

Gene Model

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

AlphaFold

Q3UMT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000013886
AA Change: S559A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000013886
Gene: ENSMUSG00000019254
AA Change: S559A

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 damaging
Transcript: ENSMUST00000013886
AA Change: S559A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000013886
Gene: ENSMUSG00000019254
AA Change: S559A

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 damaging
Transcript: ENSMUST00000013886
AA Change: S559A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000013886
Gene: ENSMUSG00000019254
AA Change: S559A

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 damaging
Transcript: ENSMUST00000124248
AA Change: S480A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120029
Gene: ENSMUSG00000019254
AA Change: S480A

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 damaging
Transcript: ENSMUST00000124248
AA Change: S480A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120029
Gene: ENSMUSG00000019254
AA Change: S480A

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 damaging
Transcript: ENSMUST00000124248
AA Change: S480A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120029
Gene: ENSMUSG00000019254
AA Change: S480A

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: ENSMUST00000164987

SMART Domains

Protein: ENSMUSP00000130665
Gene: ENSMUSG00000006154

Domain	Start	End	E-Value	Type
low complexity region	15	25	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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.0%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	T	11: 78,287,750	V1993F	probably damaging	Het
4933425L06Rik	C	A	13: 105,082,194	A12E	unknown	Het
Acss2	T	A	2: 155,558,630	Y530N	probably damaging	Het
Adam4	T	C	12: 81,419,559	I763V	probably benign	Het
Aipl1	T	G	11: 72,030,499	K190T	possibly damaging	Het
Alms1	T	A	6: 85,678,503	S3344T	possibly damaging	Het
Alpi	A	G	1: 87,099,414	V381A	possibly damaging	Het
Ankfn1	A	T	11: 89,447,618	S365R	probably benign	Het
Aox2	G	A	1: 58,308,991	A623T	probably benign	Het
Apc	T	A	18: 34,317,077	L2308Q	probably damaging	Het
Atp9b	C	T	18: 80,778,883	V501I	probably benign	Het
Baz2b	T	C	2: 59,901,819	E1994G	probably benign	Het
Cacna1a	T	C	8: 84,581,357		probably null	Het
Cacna1h	C	A	17: 25,392,076	V583L	probably benign	Het
Cd55	T	C	1: 130,447,609		probably benign	Het
Cep192	T	A	18: 67,804,424	S75T	possibly damaging	Het
Cfap54	T	A	10: 92,962,375	D1674V	probably benign	Het
Churc1	T	C	12: 76,773,297	F27L	possibly damaging	Het
Coro1c	A	G	5: 113,848,543	I280T	probably benign	Het
Creb1	C	T	1: 64,550,950	Q32*	probably null	Het
Cyp2b9	A	G	7: 26,200,783	T339A	probably benign	Het
Dctn3	T	C	4: 41,720,813	R51G	probably damaging	Het
Ddb1	T	C	19: 10,626,593	V888A	probably damaging	Het
Disp1	A	G	1: 183,089,000	Y619H	probably damaging	Het
Dnajc9	T	C	14: 20,388,334	D96G	possibly damaging	Het
Eepd1	A	G	9: 25,482,868	T143A	possibly damaging	Het
Eps8	T	A	6: 137,522,279	K204*	probably null	Het
Ercc5	T	A	1: 44,180,875	S1102R	probably benign	Het
Ergic2	T	A	6: 148,189,581	Y211F	possibly damaging	Het
Fam135b	G	T	15: 71,490,711	L274M	probably damaging	Het
Fat3	G	A	9: 15,998,088	T2206I	probably damaging	Het
Fat4	A	G	3: 38,983,571	I3791V	probably benign	Het
Gemin4	A	G	11: 76,213,296	M213T	possibly damaging	Het
Gnai3	T	C	3: 108,118,407	M119V	probably benign	Het
Heatr5b	A	T	17: 78,773,563	L1420Q	probably damaging	Het
Herc2	G	T	7: 56,206,765	G3918*	probably null	Het
Ints9	A	G	14: 65,032,256	Y465C	probably damaging	Het
Ist1	A	G	8: 109,678,883	V175A	probably damaging	Het
Kcnj12	T	C	11: 61,069,557	L227P	possibly damaging	Het
Kcnq5	T	C	1: 21,466,387	S416G	probably benign	Het
Kdm3a	T	A	6: 71,613,956	T295S	probably benign	Het
Kif1c	T	A	11: 70,708,971	M479K	probably damaging	Het
Kif20b	T	C	19: 34,956,038	L83P	probably damaging	Het
Kndc1	A	G	7: 139,927,711	E1194G	probably damaging	Het
Llgl1	A	G	11: 60,704,730	M81V	probably benign	Het
Map4k5	C	A	12: 69,824,662	M495I	probably damaging	Het
Mest	C	T	6: 30,742,791	R146C	probably benign	Het
Mettl24	T	A	10: 40,737,816		probably null	Het
Mical1	T	C	10: 41,483,535	S586P	probably benign	Het
Mrgpra3	G	T	7: 47,589,946	Y77*	probably null	Het
Mss51	A	T	14: 20,483,178	C408*	probably null	Het
Myh6	T	C	14: 54,957,401	T666A	probably benign	Het
Myo10	T	C	15: 25,805,587	C1685R	possibly damaging	Het
Naip5	A	T	13: 100,223,218	Y503*	probably null	Het
Neil1	A	C	9: 57,146,604	F144C	probably damaging	Het
Nipbl	T	A	15: 8,343,517	I1082F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,732	V7A	probably damaging	Het
Ntng2	G	A	2: 29,197,057	Q384*	probably null	Het
Ocrl	T	A	X: 47,962,116	I74N	probably damaging	Het
Olfr137	A	T	17: 38,305,312	S50T	probably benign	Het
Olfr1385	A	T	11: 49,494,670	I46F	probably damaging	Het
Olfr1408	A	G	1: 173,130,815	V134A	probably benign	Het
Olfr381	A	C	11: 73,486,374	V150G	probably benign	Het
Olfr535	A	G	7: 140,492,709	S24G	probably benign	Het
Olfr761	C	T	17: 37,952,385	G213E	possibly damaging	Het
Patj	A	G	4: 98,491,590	D151G	probably benign	Het
Plpbp	T	C	8: 27,049,231	V126A	probably damaging	Het
Pold2	A	G	11: 5,873,454	L325P	possibly damaging	Het
Pum1	T	C	4: 130,701,048	S124P	possibly damaging	Het
Pwp2	C	G	10: 78,179,091	G353A	probably damaging	Het
Reln	C	A	5: 21,979,002	Q1666H	probably damaging	Het
Rnf19a	T	C	15: 36,265,925	I9V	probably benign	Het
Ryr2	T	C	13: 11,769,878	H1063R	probably benign	Het
Samd14	C	G	11: 95,023,600	D361E	probably damaging	Het
Samd15	A	T	12: 87,201,843	N365I	probably damaging	Het
Sec16b	A	G	1: 157,531,312	H105R	probably benign	Het
Sez6	T	C	11: 77,953,503	S51P	probably benign	Het
Sh3bp1	T	A	15: 78,905,150	L236Q	probably damaging	Het
Sspo	C	T	6: 48,457,340	T991I	probably damaging	Het
Suco	A	T	1: 161,859,500	L97*	probably null	Het
Tab1	C	A	15: 80,148,296	R35S	probably benign	Het
Tet3	C	A	6: 83,404,163	S341I	possibly damaging	Het
Tlr1	A	T	5: 64,925,700	D511E	probably benign	Het
Tmem132b	A	C	5: 125,785,899	D656A	probably damaging	Het
Tmtc4	T	A	14: 122,941,988		probably null	Het
Trmo	T	C	4: 46,380,158	T404A	probably damaging	Het
Trpm1	A	G	7: 64,230,268	K790E	probably damaging	Het
Ulk4	C	A	9: 121,168,184	R774M	probably null	Het
Ush2a	C	T	1: 188,451,818	L1440F	probably benign	Het
Usp16	A	G	16: 87,480,907	K682E	probably damaging	Het
Virma	T	C	4: 11,540,511	S1471P	probably benign	Het
Vmn1r177	A	T	7: 23,865,686	I255N	probably damaging	Het
Vmn2r61	A	T	7: 42,266,652	R230*	probably null	Het
Vps13c	T	A	9: 67,993,013	F3671L	probably benign	Het
Washc5	T	C	15: 59,359,340	N358S	possibly damaging	Het
Wdr72	A	G	9: 74,151,617	K331E	probably damaging	Het
Zfp986	A	T	4: 145,899,235	K155I	probably benign	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
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
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'- GTCCTGACAGAAAGGCACAG -3'
(R):5'- AGGATGTGCACCCTTCTATAGTG -3'

Sequencing Primer
(F):5'- TGCTCACCAGGCTGGGTAG -3'
(R):5'- ATGTGCACCCTTCTATAGTGTCATTC -3'

Posted On

2014-06-23