Mutagenetix > Incidental Mutation

Incidental Mutation 'R8851:Ppp1r12c'

675001

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12c

Ensembl Gene

ENSMUSG00000019254

Gene Name

protein phosphatase 1, regulatory subunit 12C

Synonyms

Mbs85, 2410197A17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R8851 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4484519-4504679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4487703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 436 (G436D)

Ref Sequence

ENSEMBL: ENSMUSP00000013886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013886] [ENSMUST00000124248] [ENSMUST00000163893]

AlphaFold

Q3UMT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000013886
AA Change: G436D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000013886
Gene: ENSMUSG00000019254
AA Change: G436D

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: ENSMUST00000124248
AA Change: G357D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120029
Gene: ENSMUSG00000019254
AA Change: G357D

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,159,683 (GRCm39)	I279F	probably benign	Het
Adamts7	A	G	9: 90,075,163 (GRCm39)	N965S	probably benign	Het
Adgrl3	A	G	5: 81,613,119 (GRCm39)	Y184C	probably damaging	Het
Ankar	T	C	1: 72,691,535 (GRCm39)	Y1142C	probably damaging	Het
Apoa4	A	G	9: 46,153,906 (GRCm39)	K169R	probably benign	Het
Cd22	T	A	7: 30,577,084 (GRCm39)	K74N	probably benign	Het
Defa39	T	A	8: 22,193,555 (GRCm39)	I22F	possibly damaging	Het
Dgcr2	G	A	16: 17,690,507 (GRCm39)	T41I	possibly damaging	Het
Dicer1	A	G	12: 104,690,300 (GRCm39)	V245A	possibly damaging	Het
Dop1b	T	A	16: 93,559,398 (GRCm39)	S715T	probably benign	Het
Epb41l1	A	T	2: 156,364,431 (GRCm39)	H980L	probably benign	Het
Erc2	A	T	14: 28,039,216 (GRCm39)	E973V	probably null	Het
Fam124b	T	A	1: 80,190,882 (GRCm39)	Q167L	probably damaging	Het
Frmpd2	A	G	14: 33,217,643 (GRCm39)	E46G	probably damaging	Het
Gabrb2	G	A	11: 42,312,186 (GRCm39)	V4I	probably benign	Het
Gbf1	T	A	19: 46,256,922 (GRCm39)	N841K	probably damaging	Het
Gnpat	A	G	8: 125,601,004 (GRCm39)	H161R	probably damaging	Het
Gpd2	A	T	2: 57,197,062 (GRCm39)	M206L	possibly damaging	Het
Grid2ip	T	C	5: 143,348,352 (GRCm39)	F148L	possibly damaging	Het
Hemk1	A	G	9: 107,213,412 (GRCm39)	V128A	probably benign	Het
Ism1	G	T	2: 139,591,465 (GRCm39)	S273I	probably damaging	Het
Kcnab3	G	T	11: 69,218,990 (GRCm39)		probably null	Het
Kdm6b	A	G	11: 69,291,993 (GRCm39)	Y1430H	unknown	Het
Lama2	A	G	10: 27,242,119 (GRCm39)	V279A	possibly damaging	Het
Lmf1	G	A	17: 25,804,680 (GRCm39)	W119*	probably null	Het
Lrrc42	A	G	4: 107,096,375 (GRCm39)	V276A	probably benign	Het
Magi2	T	C	5: 20,270,618 (GRCm39)	F163L	probably damaging	Het
Map2k2	A	G	10: 80,955,097 (GRCm39)	K196R	probably damaging	Het
Mfsd11	C	A	11: 116,752,479 (GRCm39)	D209E	probably benign	Het
Muc1	C	A	3: 89,138,425 (GRCm39)	F422L	probably benign	Het
Muc13	A	G	16: 33,631,273 (GRCm39)	H391R	probably benign	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Nfatc2ip	T	C	7: 125,986,617 (GRCm39)	Q346R	probably damaging	Het
Or8g2b	A	G	9: 39,751,600 (GRCm39)	Y290C	probably damaging	Het
Otol1	T	A	3: 69,935,299 (GRCm39)	D430E	probably damaging	Het
Pcdh1	T	C	18: 38,325,155 (GRCm39)	E929G	probably damaging	Het
Pip4p2	T	C	4: 14,912,491 (GRCm39)	M200T	possibly damaging	Het
Plekhf1	C	T	7: 37,921,466 (GRCm39)	R34H	probably damaging	Het
Plekhm2	A	T	4: 141,358,639 (GRCm39)	V622E	probably benign	Het
Pomt2	G	A	12: 87,184,838 (GRCm39)	T196I	probably damaging	Het
Prss50	A	G	9: 110,687,081 (GRCm39)		probably benign	Het
Slc29a1	A	G	17: 45,900,402 (GRCm39)	I176T	probably damaging	Het
Slc5a9	A	T	4: 111,755,790 (GRCm39)	V36E	probably damaging	Het
Slc7a1	A	C	5: 148,285,093 (GRCm39)	S133R	probably damaging	Het
Sox17	A	G	1: 4,562,073 (GRCm39)	Y376H	probably benign	Het
Spata4	T	C	8: 55,062,935 (GRCm39)	I280T	probably benign	Het
Svop	T	A	5: 114,192,557 (GRCm39)	I187F	probably damaging	Het
Tas2r103	T	A	6: 133,013,896 (GRCm39)	I57F		Het
Tead3	A	G	17: 28,551,704 (GRCm39)	V463A	probably damaging	Het
Tenm4	G	C	7: 96,501,710 (GRCm39)	G1305R	probably damaging	Het
Top2a	A	T	11: 98,900,677 (GRCm39)	F594L	probably damaging	Het
Trim23	A	G	13: 104,334,573 (GRCm39)	T419A	possibly damaging	Het
Ttn	T	C	2: 76,629,237 (GRCm39)	E12621G	probably damaging	Het
Ttyh2	A	G	11: 114,593,090 (GRCm39)	I254V	probably benign	Het
Vmn2r58	T	C	7: 41,487,219 (GRCm39)	M559V	probably benign	Het
Wwp1	A	T	4: 19,643,437 (GRCm39)	H358Q	probably null	Het
Zcwpw1	A	C	5: 137,820,626 (GRCm39)	D597A	probably damaging	Het
Zfp318	A	T	17: 46,710,761 (GRCm39)	Y828F	probably damaging	Het
Zfp608	T	A	18: 55,032,194 (GRCm39)	N582I	possibly damaging	Het

Other mutations in Ppp1r12c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Ppp1r12c	APN	7	4,500,344 (GRCm39)	splice site	probably benign
IGL01419:Ppp1r12c	APN	7	4,489,351 (GRCm39)	splice site	probably null
IGL02126:Ppp1r12c	APN	7	4,492,858 (GRCm39)	missense	probably benign	0.43
IGL03388:Ppp1r12c	APN	7	4,485,069 (GRCm39)	unclassified	probably benign
PIT4418001:Ppp1r12c	UTSW	7	4,504,266 (GRCm39)	missense	probably null	0.09
R0523:Ppp1r12c	UTSW	7	4,492,771 (GRCm39)	missense	probably damaging	1.00
R0815:Ppp1r12c	UTSW	7	4,489,365 (GRCm39)	missense	probably damaging	1.00
R0863:Ppp1r12c	UTSW	7	4,489,365 (GRCm39)	missense	probably damaging	1.00
R1413:Ppp1r12c	UTSW	7	4,487,443 (GRCm39)	splice site	probably null
R1522:Ppp1r12c	UTSW	7	4,500,424 (GRCm39)	missense	probably damaging	1.00
R1835:Ppp1r12c	UTSW	7	4,486,650 (GRCm39)	missense	probably damaging	1.00
R2004:Ppp1r12c	UTSW	7	4,485,974 (GRCm39)	nonsense	probably null
R2170:Ppp1r12c	UTSW	7	4,485,805 (GRCm39)	missense	possibly damaging	0.76
R3787:Ppp1r12c	UTSW	7	4,489,583 (GRCm39)	missense	probably damaging	1.00
R3833:Ppp1r12c	UTSW	7	4,485,785 (GRCm39)	unclassified	probably benign
R4093:Ppp1r12c	UTSW	7	4,486,366 (GRCm39)	missense	probably damaging	0.99
R4095:Ppp1r12c	UTSW	7	4,486,366 (GRCm39)	missense	probably damaging	0.99
R4108:Ppp1r12c	UTSW	7	4,489,565 (GRCm39)	missense	probably damaging	1.00
R5177:Ppp1r12c	UTSW	7	4,487,495 (GRCm39)	nonsense	probably null
R5319:Ppp1r12c	UTSW	7	4,486,983 (GRCm39)	missense	probably benign	0.01
R5561:Ppp1r12c	UTSW	7	4,489,355 (GRCm39)	critical splice donor site	probably null
R5739:Ppp1r12c	UTSW	7	4,500,281 (GRCm39)	missense	probably damaging	1.00
R5837:Ppp1r12c	UTSW	7	4,500,403 (GRCm39)	intron	probably benign
R6531:Ppp1r12c	UTSW	7	4,485,788 (GRCm39)	critical splice donor site	probably null
R7207:Ppp1r12c	UTSW	7	4,492,867 (GRCm39)	missense	probably damaging	1.00
R7507:Ppp1r12c	UTSW	7	4,486,970 (GRCm39)	missense	probably benign	0.01
R7920:Ppp1r12c	UTSW	7	4,486,354 (GRCm39)	missense	probably benign	0.00
R7934:Ppp1r12c	UTSW	7	4,488,416 (GRCm39)	nonsense	probably null
R8391:Ppp1r12c	UTSW	7	4,500,431 (GRCm39)	missense	probably damaging	1.00
R8397:Ppp1r12c	UTSW	7	4,492,768 (GRCm39)	missense	probably damaging	0.98
R8793:Ppp1r12c	UTSW	7	4,485,887 (GRCm39)	missense	probably benign
R8974:Ppp1r12c	UTSW	7	4,486,698 (GRCm39)	missense	probably damaging	1.00
R9114:Ppp1r12c	UTSW	7	4,485,792 (GRCm39)	missense	possibly damaging	0.83
Z1177:Ppp1r12c	UTSW	7	4,487,628 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- TAAAACAAAGGAGGTGCTCTGTC -3'
(R):5'- AAGGTGGCCTTTTGACTTGC -3'

Sequencing Primer
(F):5'- TCTGTCCCGAGGCAGAAG -3'
(R):5'- GACTTGCTTCCTAGGTCCTTGTG -3'

Posted On

2021-07-15