Mutagenetix > Incidental Mutation

Incidental Mutation 'R0523:Ppp1r12c'

48705

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12c

Ensembl Gene

ENSMUSG00000019254

Gene Name

protein phosphatase 1, regulatory subunit 12C

Synonyms

Mbs85, 2410197A17Rik

MMRRC Submission

038716-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R0523 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4484519-4504679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4492771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 156 (L156Q)

Ref Sequence

ENSEMBL: ENSMUSP00000120029 (fasta)

Gene Model

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

AlphaFold

Q3UMT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000013886
AA Change: L235Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000013886
Gene: ENSMUSG00000019254
AA Change: L235Q

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: L156Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120029
Gene: ENSMUSG00000019254
AA Change: L156Q

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: ENSMUST00000133374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154710

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,535,289 (GRCm39)	D807G	possibly damaging	Het
Actl9	T	A	17: 33,652,323 (GRCm39)	W128R	probably damaging	Het
Aggf1	T	C	13: 95,492,924 (GRCm39)	I562V	probably damaging	Het
Ano3	T	A	2: 110,715,200 (GRCm39)	E79D	probably benign	Het
Apobec1	T	A	6: 122,558,504 (GRCm39)	I84F	probably damaging	Het
Atp6v1b2	T	C	8: 69,562,637 (GRCm39)	F458L	possibly damaging	Het
Bco2	A	T	9: 50,445,926 (GRCm39)	V490E	probably damaging	Het
Catsperg1	G	A	7: 28,884,615 (GRCm39)		probably benign	Het
Cdc37	T	C	9: 21,054,292 (GRCm39)	K111R	probably damaging	Het
Cfap54	T	C	10: 92,744,745 (GRCm39)		probably benign	Het
Cfap91	G	A	16: 38,148,736 (GRCm39)	P231S	probably damaging	Het
Cplane1	T	A	15: 8,223,870 (GRCm39)	Y878N	probably damaging	Het
Cpox	T	A	16: 58,495,608 (GRCm39)	C308*	probably null	Het
Cracdl	A	T	1: 37,683,710 (GRCm39)	M1K	probably null	Het
Ctnna3	T	G	10: 64,511,688 (GRCm39)	M626R	probably damaging	Het
Cyp2c68	T	C	19: 39,727,873 (GRCm39)	E93G	probably benign	Het
Cyp2s1	G	A	7: 25,505,475 (GRCm39)	R330W	probably damaging	Het
Diaph1	C	T	18: 37,989,553 (GRCm39)	V860I	possibly damaging	Het
Dicer1	A	G	12: 104,668,750 (GRCm39)	S1311P	probably damaging	Het
Dpyd	G	A	3: 118,692,852 (GRCm39)	R332K	probably benign	Het
E130308A19Rik	G	A	4: 59,719,716 (GRCm39)	R416H	probably damaging	Het
Eef1d	T	C	15: 75,775,005 (GRCm39)	D218G	probably benign	Het
Eif2ak1	T	C	5: 143,818,984 (GRCm39)	V215A	probably damaging	Het
Eif2ak4	T	C	2: 118,272,577 (GRCm39)		probably null	Het
Fcrl5	T	C	3: 87,365,099 (GRCm39)	S583P	possibly damaging	Het
Garin5b	A	G	7: 4,762,392 (GRCm39)	S246P	possibly damaging	Het
Grid2ip	C	A	5: 143,358,798 (GRCm39)	Q29K	possibly damaging	Het
Htr1f	A	T	16: 64,746,262 (GRCm39)	N343K	probably damaging	Het
Hvcn1	T	C	5: 122,354,428 (GRCm39)		probably null	Het
Igf2r	T	C	17: 12,910,951 (GRCm39)	I1956V	probably benign	Het
Impdh2	A	T	9: 108,439,018 (GRCm39)		probably null	Het
Impdh2	C	T	9: 108,439,019 (GRCm39)	T96I	possibly damaging	Het
Lactb	C	G	9: 66,877,974 (GRCm39)	G285A	probably benign	Het
Lrrc43	T	C	5: 123,639,305 (GRCm39)	S445P	probably damaging	Het
Mapk12	T	G	15: 89,019,848 (GRCm39)	M120L	probably benign	Het
Mroh8	C	G	2: 157,065,956 (GRCm39)	A669P	probably damaging	Het
Mrpl38	A	C	11: 116,022,844 (GRCm39)	H373Q	probably benign	Het
Myocd	A	G	11: 65,071,728 (GRCm39)	V740A	probably damaging	Het
Naprt	A	G	15: 75,764,314 (GRCm39)	F300S	probably damaging	Het
Ncam2	T	C	16: 81,258,531 (GRCm39)	I271T	probably damaging	Het
Nek4	A	G	14: 30,701,995 (GRCm39)	T582A	probably benign	Het
Notch2	G	A	3: 98,018,914 (GRCm39)	R692H	probably benign	Het
Notch2	C	T	3: 97,978,286 (GRCm39)	T89I	probably benign	Het
Nt5c3	A	T	6: 56,860,666 (GRCm39)	N296K	probably damaging	Het
Nt5c3b	T	A	11: 100,327,036 (GRCm39)	I87F	probably damaging	Het
Oas3	T	C	5: 120,904,209 (GRCm39)	Q555R	unknown	Het
Or2ag17	A	G	7: 106,389,533 (GRCm39)	V225A	probably damaging	Het
Or5p69	A	T	7: 107,967,438 (GRCm39)	H247L	probably damaging	Het
Or9g19	T	A	2: 85,600,273 (GRCm39)	S43T	probably benign	Het
P3h1	C	A	4: 119,098,727 (GRCm39)	Q410K	probably benign	Het
Pax3	A	G	1: 78,172,078 (GRCm39)	V44A	possibly damaging	Het
Pde1c	T	A	6: 56,151,926 (GRCm39)	L252F	probably damaging	Het
Pdzd7	T	A	19: 45,024,529 (GRCm39)	T497S	probably benign	Het
Piezo2	T	C	18: 63,155,552 (GRCm39)	T253A	probably damaging	Het
Pipox	T	C	11: 77,782,965 (GRCm39)	E79G	probably damaging	Het
Pole	G	T	5: 110,451,459 (GRCm39)	M829I	probably damaging	Het
Psme2b	T	G	11: 48,836,609 (GRCm39)	T113P	probably damaging	Het
Ptprq	A	G	10: 107,416,081 (GRCm39)	I1739T	possibly damaging	Het
Qser1	T	C	2: 104,620,021 (GRCm39)	T174A	probably damaging	Het
Rcor3	T	G	1: 191,814,736 (GRCm39)	D81A	probably damaging	Het
Rev3l	T	C	10: 39,724,045 (GRCm39)	V785A	probably benign	Het
Rnf11	T	C	4: 109,314,119 (GRCm39)	D90G	probably benign	Het
Sh3tc1	GCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCC	5: 35,881,410 (GRCm39)		probably benign	Het
Smad2	T	A	18: 76,395,623 (GRCm39)	S21T	probably benign	Het
Smc4	A	G	3: 68,933,221 (GRCm39)	D639G	probably damaging	Het
Smtn	A	T	11: 3,474,664 (GRCm39)	S716T	possibly damaging	Het
Smug1	G	T	15: 103,064,136 (GRCm39)	Q262K	probably benign	Het
Sspo	G	T	6: 48,428,794 (GRCm39)	G403V	probably benign	Het
Tas2r131	A	G	6: 132,934,414 (GRCm39)	F132L	possibly damaging	Het
Tgm3	T	C	2: 129,886,582 (GRCm39)		probably null	Het
Tigd2	C	T	6: 59,187,358 (GRCm39)	T75M	probably benign	Het
Tnfrsf13b	T	C	11: 61,038,413 (GRCm39)	V232A	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trim47	A	G	11: 115,998,716 (GRCm39)	L301S	probably damaging	Het
Trim75	G	A	8: 65,436,442 (GRCm39)	H3Y	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Tsbp1	G	T	17: 34,664,473 (GRCm39)		probably null	Het
Ttc29	G	C	8: 79,003,466 (GRCm39)	L227F	probably benign	Het
Ttc39d	G	A	17: 80,523,886 (GRCm39)	D182N	possibly damaging	Het
Ttll10	T	A	4: 156,129,818 (GRCm39)	R164*	probably null	Het
Ufsp2	T	A	8: 46,449,780 (GRCm39)	D447E	probably benign	Het
Ugt2b37	T	A	5: 87,399,691 (GRCm39)	L272F	possibly damaging	Het
Vps13b	T	C	15: 35,472,196 (GRCm39)	V833A	probably benign	Het
Zbbx	T	C	3: 74,989,165 (GRCm39)	T308A	probably benign	Het
Zfp933	G	A	4: 147,910,919 (GRCm39)	Q226*	probably null	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
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
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'- GACTTGGGATGTAGATGCCATGACAG -3'
(R):5'- TGGATGAGAGGACTCGTTGAGTCAC -3'

Sequencing Primer
(F):5'- tgaggcagacacaggagag -3'
(R):5'- GCTGCGACCATGAAACTGTC -3'

Posted On

2013-06-12