Mutagenetix > Incidental Mutation

Incidental Mutation 'R5177:Ppp1r12c'

399580

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12c

Ensembl Gene

ENSMUSG00000019254

Gene Name

protein phosphatase 1, regulatory subunit 12C

Synonyms

Mbs85, 2410197A17Rik

MMRRC Submission

042757-MU

Accession Numbers

Essential gene?

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

Stock #

R5177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4484519-4504679 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 4487495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 393 (R393*)

Ref Sequence

ENSEMBL: ENSMUSP00000120029 (fasta)

Gene Model

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

AlphaFold

Q3UMT1

Predicted Effect

probably null
Transcript: ENSMUST00000013886
AA Change: R472*

SMART Domains

Protein: ENSMUSP00000013886
Gene: ENSMUSG00000019254
AA Change: R472*

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
AA Change: R393*

SMART Domains

Protein: ENSMUSP00000120029
Gene: ENSMUSG00000019254
AA Change: R393*

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: ENSMUST00000145689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153101

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

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (71/73)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,115,639 (GRCm39)	R575Q	probably damaging	Het
Arhgap22	T	G	14: 33,088,650 (GRCm39)	V377G	probably benign	Het
Asic4	T	C	1: 75,427,483 (GRCm39)	I3T	probably damaging	Het
Atp2b4	T	C	1: 133,656,506 (GRCm39)	T715A	probably benign	Het
Bltp3a	T	C	17: 28,103,992 (GRCm39)	L464P	possibly damaging	Het
Ccdc180	A	T	4: 45,917,508 (GRCm39)	H283L	probably damaging	Het
Cfap91	A	G	16: 38,152,683 (GRCm39)	S176P	probably benign	Het
Cfb	A	G	17: 35,078,002 (GRCm39)	V976A	probably damaging	Het
Cltc	T	C	11: 86,595,989 (GRCm39)	T1250A	probably damaging	Het
Cylc2	T	C	4: 51,228,587 (GRCm39)		probably benign	Het
Dcbld1	T	A	10: 52,180,730 (GRCm39)	D131E	probably damaging	Het
Dmxl1	T	C	18: 50,026,651 (GRCm39)	S1920P	probably damaging	Het
Dnajc13	G	A	9: 104,108,185 (GRCm39)	H197Y	probably benign	Het
Dpy19l1	C	T	9: 24,349,924 (GRCm39)		probably null	Het
Ears2	A	G	7: 121,643,683 (GRCm39)		probably benign	Het
Epgn	A	C	5: 91,176,136 (GRCm39)		probably benign	Het
Ern1	T	C	11: 106,302,601 (GRCm39)	T418A	probably benign	Het
F12	G	A	13: 55,567,981 (GRCm39)	P476S	probably benign	Het
Gal3st2c	C	T	1: 93,936,930 (GRCm39)	Q292*	probably null	Het
Galnt7	C	A	8: 58,037,061 (GRCm39)	Q109H	possibly damaging	Het
Gimap1	G	T	6: 48,720,032 (GRCm39)	G215W	probably damaging	Het
Gm28042	T	A	2: 119,872,082 (GRCm39)		probably null	Het
Gm5414	A	G	15: 101,534,252 (GRCm39)	I284T	possibly damaging	Het
Hddc3	A	G	7: 79,992,914 (GRCm39)	E10G	probably damaging	Het
Hmgxb3	T	C	18: 61,305,266 (GRCm39)	K31E	probably damaging	Het
Hspg2	A	C	4: 137,246,083 (GRCm39)	Y989S	probably damaging	Het
Kif12	G	A	4: 63,086,141 (GRCm39)	T402M	probably benign	Het
Klhdc4	A	T	8: 122,540,529 (GRCm39)	L115*	probably null	Het
Lama2	C	T	10: 27,066,699 (GRCm39)	V1061M	possibly damaging	Het
Llgl1	C	T	11: 60,602,833 (GRCm39)	T836I	possibly damaging	Het
Map4k4	A	G	1: 40,025,922 (GRCm39)	D304G	probably damaging	Het
Matn2	A	G	15: 34,433,660 (GRCm39)	Q915R	possibly damaging	Het
Myo18a	A	G	11: 77,755,668 (GRCm39)		probably benign	Het
Myorg	C	A	4: 41,498,407 (GRCm39)	E408*	probably null	Het
Nbn	A	T	4: 15,965,132 (GRCm39)		probably null	Het
Nek8	G	A	11: 78,061,297 (GRCm39)	Q383*	probably null	Het
Nme7	T	G	1: 164,208,245 (GRCm39)	Y304*	probably null	Het
Nol8	A	T	13: 49,814,588 (GRCm39)	H214L	probably benign	Het
Nostrin	A	T	2: 69,006,098 (GRCm39)	I261F	possibly damaging	Het
Oprk1	T	G	1: 5,672,897 (GRCm39)	C345G	probably damaging	Het
Or13a18	A	G	7: 140,190,102 (GRCm39)	T8A	probably benign	Het
Or52j3	A	T	7: 102,836,710 (GRCm39)	I301L	probably benign	Het
Polrmt	T	C	10: 79,573,310 (GRCm39)	S998G	probably benign	Het
Prpf3	T	A	3: 95,757,036 (GRCm39)		probably benign	Het
Rabl6	T	C	2: 25,475,385 (GRCm39)	M563V	probably benign	Het
Rasa2	C	A	9: 96,426,844 (GRCm39)	E775*	probably null	Het
Rc3h1	G	T	1: 160,779,222 (GRCm39)	V552L	probably damaging	Het
Rhot1	A	T	11: 80,137,592 (GRCm39)	N365Y	possibly damaging	Het
Rimbp3	G	A	16: 17,027,781 (GRCm39)	V402M	possibly damaging	Het
Rusc2	A	T	4: 43,421,805 (GRCm39)		probably null	Het
Slc25a11	T	C	11: 70,536,643 (GRCm39)	E141G	probably damaging	Het
Slc34a1	A	T	13: 55,548,975 (GRCm39)	I142F	probably damaging	Het
Socs6	A	C	18: 88,887,504 (GRCm39)	Y470*	probably null	Het
Sox12	A	T	2: 152,239,098 (GRCm39)	L174Q	unknown	Het
Srl	A	G	16: 4,314,267 (GRCm39)		probably null	Het
Tacc1	A	T	8: 25,691,237 (GRCm39)	V22E	probably damaging	Het
Thsd7a	A	T	6: 12,379,582 (GRCm39)	C947*	probably null	Het
Tlr12	A	C	4: 128,512,169 (GRCm39)	V27G	probably damaging	Het
Tmprss4	C	A	9: 45,085,260 (GRCm39)	V398L	probably benign	Het
Trip6	T	C	5: 137,310,434 (GRCm39)	D270G	probably damaging	Het
Uba5	T	G	9: 103,926,497 (GRCm39)	N355T	probably benign	Het
Ubr5	A	G	15: 38,006,761 (GRCm39)	Y1171H	probably benign	Het
Vmn2r57	A	G	7: 41,049,664 (GRCm39)	I695T	probably benign	Het
Vmn2r68	T	A	7: 84,871,199 (GRCm39)	I695L	probably damaging	Het
Vmn2r79	T	A	7: 86,651,177 (GRCm39)	M192K	probably damaging	Het
Vps16	G	T	2: 130,285,288 (GRCm39)	E782*	probably null	Het
Zfp783	A	G	6: 47,923,737 (GRCm39)		noncoding transcript	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
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
R8851:Ppp1r12c	UTSW	7	4,487,703 (GRCm39)	missense	probably damaging	1.00
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'- TAGCAAGGCAGTCCTGGTAG -3'
(R):5'- GCCTTGGGTCCTTCAGAAAG -3'

Sequencing Primer
(F):5'- AGTCCTGGTAGGCCCTAGG -3'
(R):5'- TACAGAGGGCGTTCTCGGTC -3'

Posted On

2016-07-06