Mutagenetix > Incidental Mutation

Incidental Mutation 'R8716:Ppp1r12a'

669895

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12a

Ensembl Gene

ENSMUSG00000019907

Gene Name

protein phosphatase 1, regulatory subunit 12A

Synonyms

1200015F06Rik, D10Ertd625e, 5730577I22Rik, Mypt1

MMRRC Submission

068569-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107997913-108115846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108096749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 713 (R713H)

Ref Sequence

ENSEMBL: ENSMUSP00000069257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070663] [ENSMUST00000219263] [ENSMUST00000219759]

AlphaFold

Q9DBR7

Predicted Effect

probably damaging
Transcript: ENSMUST00000070663
AA Change: R713H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069257
Gene: ENSMUSG00000019907
AA Change: R713H

Domain	Start	End	E-Value	Type
ANK	38	68	1.01e2	SMART
ANK	72	101	1.66e-6	SMART
ANK	105	134	6.36e-3	SMART
ANK	138	168	5.52e2	SMART
ANK	198	227	6.12e-5	SMART
ANK	231	260	5.16e-3	SMART
coiled coil region	333	354	N/A	INTRINSIC
low complexity region	385	402	N/A	INTRINSIC
low complexity region	469	480	N/A	INTRINSIC
low complexity region	517	531	N/A	INTRINSIC
low complexity region	564	578	N/A	INTRINSIC
low complexity region	596	610	N/A	INTRINSIC
low complexity region	626	656	N/A	INTRINSIC
PDB:2KJY\|A	657	712	5e-12	PDB
low complexity region	719	745	N/A	INTRINSIC
low complexity region	771	794	N/A	INTRINSIC
low complexity region	815	833	N/A	INTRINSIC
low complexity region	836	851	N/A	INTRINSIC
low complexity region	883	902	N/A	INTRINSIC
Pfam:PRKG1_interact	930	993	4.5e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000219263
AA Change: R713H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219759
AA Change: R190H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygous null mice die before E7.5. Mice homozygous for a floxed allele activated in smooth muscle exhibit altered intestinal smooth muscle contractility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,243,774 (GRCm39)	Y1879C	probably benign	Het
Abce1	A	T	8: 80,427,784 (GRCm39)	I168N	possibly damaging	Het
Acan	G	A	7: 78,762,438 (GRCm39)	R2004H	probably damaging	Het
Acsm4	T	A	7: 119,307,883 (GRCm39)	L340Q	probably damaging	Het
Actmap	C	A	7: 26,896,631 (GRCm39)	P65T	probably damaging	Het
Adamts2	T	A	11: 50,664,091 (GRCm39)	N342K	probably damaging	Het
Adgrd1	A	T	5: 129,265,435 (GRCm39)	D725V	possibly damaging	Het
Ahnak	T	A	19: 8,986,438 (GRCm39)	L2574Q	probably damaging	Het
Ank2	A	T	3: 126,736,488 (GRCm39)	L3132*	probably null	Het
Ap3b2	T	G	7: 81,126,901 (GRCm39)	E283A	probably benign	Het
Asb17	A	T	3: 153,559,151 (GRCm39)	L287F	probably damaging	Het
Atr	T	G	9: 95,789,468 (GRCm39)	N1541K	probably benign	Het
Bcas3	G	A	11: 85,471,868 (GRCm39)	V711I	probably damaging	Het
Ccdc82	T	G	9: 13,252,922 (GRCm39)	Y262*	probably null	Het
Cd209d	CAT	C	8: 3,923,772 (GRCm39)		probably null	Het
Cdc23	GAGACTACCGAAGA	GAGA	18: 34,784,735 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,800,494 (GRCm39)	L1571F	probably benign	Het
Clca3b	C	T	3: 144,550,355 (GRCm39)	V197I	probably benign	Het
Cul9	T	C	17: 46,838,840 (GRCm39)	S932G	probably benign	Het
Cyp3a59	T	A	5: 146,033,411 (GRCm39)	D182E	probably damaging	Het
Ddx19a	T	C	8: 111,710,243 (GRCm39)	E119G	probably damaging	Het
Dnah1	A	G	14: 30,989,941 (GRCm39)		probably benign	Het
Dop1b	T	A	16: 93,577,673 (GRCm39)	L1761*	probably null	Het
Ehd2	A	G	7: 15,698,106 (GRCm39)	S44P	probably benign	Het
Exoc2	T	A	13: 31,095,227 (GRCm39)	H223L	probably damaging	Het
Fam217a	G	A	13: 35,108,248 (GRCm39)		probably benign	Het
Farp1	A	G	14: 121,479,855 (GRCm39)	N382S	probably benign	Het
Gbf1	T	A	19: 46,272,460 (GRCm39)	L1633Q	probably damaging	Het
Gpn1	C	T	5: 31,656,642 (GRCm39)	T115I	probably benign	Het
Gstcd	T	C	3: 132,688,950 (GRCm39)	D600G	probably damaging	Het
Ighv16-1	A	C	12: 114,032,616 (GRCm39)	M62R	probably benign	Het
Igsf3	T	G	3: 101,334,739 (GRCm39)	V272G	probably damaging	Het
Itgb2	T	C	10: 77,393,787 (GRCm39)	V409A	probably damaging	Het
Kcnh8	C	T	17: 53,284,780 (GRCm39)	P917S	probably benign	Het
Kif23	T	C	9: 61,844,477 (GRCm39)	T114A	probably damaging	Het
Krt35	A	G	11: 99,987,011 (GRCm39)	M1T	probably null	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lonp2	T	C	8: 87,442,933 (GRCm39)	I798T	probably benign	Het
Lrp2	T	A	2: 69,274,138 (GRCm39)	T3971S	probably benign	Het
LTO1	G	T	7: 144,468,930 (GRCm39)		probably benign	Het
Mcc	C	A	18: 44,582,403 (GRCm39)	V758F	possibly damaging	Het
Naip2	C	T	13: 100,280,914 (GRCm39)	V1433I	probably benign	Het
Ndfip1	T	C	18: 38,585,384 (GRCm39)	F133L	probably damaging	Het
Nlrc4	T	A	17: 74,752,985 (GRCm39)	E466V	probably damaging	Het
Nwd1	A	G	8: 73,388,908 (GRCm39)	D112G	probably damaging	Het
Opn4	G	T	14: 34,315,819 (GRCm39)	R405S	probably benign	Het
Or10q12	T	C	19: 13,746,185 (GRCm39)	S160P	probably damaging	Het
Or2i1	C	T	17: 37,508,299 (GRCm39)	V112M	possibly damaging	Het
Or4c110	T	C	2: 88,832,060 (GRCm39)	T191A		Het
Or7e168	C	T	9: 19,720,165 (GRCm39)	L184F	probably damaging	Het
Pde11a	T	A	2: 75,848,238 (GRCm39)	D863V	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekhf1	A	T	7: 37,921,322 (GRCm39)	L82Q	probably damaging	Het
Pou4f3	G	T	18: 42,528,593 (GRCm39)	D179Y	possibly damaging	Het
Psg17	C	A	7: 18,555,310 (GRCm39)	G11W	probably benign	Het
Ptprh	A	T	7: 4,567,273 (GRCm39)	V533D	probably damaging	Het
Ptprn2	A	G	12: 117,219,168 (GRCm39)	D933G	possibly damaging	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rfx6	A	C	10: 51,557,968 (GRCm39)	H147P	probably damaging	Het
Rprd2	T	C	3: 95,684,105 (GRCm39)	Y310C	probably damaging	Het
Samd11	A	G	4: 156,333,727 (GRCm39)	F201S	probably benign	Het
Sox7	A	G	14: 64,186,037 (GRCm39)	T358A	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tie1	G	A	4: 118,339,935 (GRCm39)	T364M	possibly damaging	Het
Ttn	C	A	2: 76,597,266 (GRCm39)	L19882F	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubr4	T	C	4: 139,196,164 (GRCm39)	W1267R	unknown	Het
Usp42	G	A	5: 143,703,696 (GRCm39)	P456S	probably damaging	Het
Vmn1r235	T	C	17: 21,482,554 (GRCm39)	V293A	possibly damaging	Het
Vmn2r90	T	A	17: 17,924,343 (GRCm39)	H47Q	probably damaging	Het
Vps13d	T	A	4: 144,802,348 (GRCm39)	T3503S		Het
Vwa5b2	T	A	16: 20,415,026 (GRCm39)	N349K	probably benign	Het
Zeb1	A	T	18: 5,767,958 (GRCm39)	Y823F	probably damaging	Het
Zfp273	T	A	13: 67,974,053 (GRCm39)	C394S	probably damaging	Het
Zfp286	G	T	11: 62,671,817 (GRCm39)	A147D	unknown	Het
Zfp831	A	G	2: 174,547,049 (GRCm39)	T1411A	possibly damaging	Het

Other mutations in Ppp1r12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Ppp1r12a	APN	10	108,034,709 (GRCm39)	missense	probably damaging	1.00
IGL00727:Ppp1r12a	APN	10	108,066,334 (GRCm39)	missense	probably damaging	1.00
IGL00819:Ppp1r12a	APN	10	108,076,682 (GRCm39)	missense	probably damaging	0.98
IGL01538:Ppp1r12a	APN	10	108,069,882 (GRCm39)	missense	probably damaging	1.00
IGL02227:Ppp1r12a	APN	10	108,105,185 (GRCm39)	missense	probably damaging	1.00
IGL02957:Ppp1r12a	APN	10	108,034,779 (GRCm39)	missense	probably damaging	0.98
IGL03063:Ppp1r12a	APN	10	108,097,115 (GRCm39)	missense	probably damaging	1.00
IGL03260:Ppp1r12a	APN	10	108,097,106 (GRCm39)	missense	probably benign	0.10
R0049:Ppp1r12a	UTSW	10	108,089,193 (GRCm39)	missense	possibly damaging	0.63
R0268:Ppp1r12a	UTSW	10	108,109,242 (GRCm39)	intron	probably benign
R0826:Ppp1r12a	UTSW	10	108,066,414 (GRCm39)	missense	possibly damaging	0.46
R0839:Ppp1r12a	UTSW	10	108,034,722 (GRCm39)	missense	probably damaging	1.00
R1026:Ppp1r12a	UTSW	10	108,087,720 (GRCm39)	missense	probably benign	0.08
R1053:Ppp1r12a	UTSW	10	108,098,212 (GRCm39)	missense	probably damaging	1.00
R1376:Ppp1r12a	UTSW	10	108,034,779 (GRCm39)	missense	probably damaging	0.98
R1376:Ppp1r12a	UTSW	10	108,034,779 (GRCm39)	missense	probably damaging	0.98
R1511:Ppp1r12a	UTSW	10	108,087,720 (GRCm39)	missense	probably benign	0.08
R1616:Ppp1r12a	UTSW	10	108,096,728 (GRCm39)	missense	probably damaging	1.00
R1673:Ppp1r12a	UTSW	10	108,085,426 (GRCm39)	missense	probably damaging	0.96
R1866:Ppp1r12a	UTSW	10	108,098,292 (GRCm39)	missense	possibly damaging	0.85
R1901:Ppp1r12a	UTSW	10	108,034,752 (GRCm39)	missense	probably damaging	1.00
R1902:Ppp1r12a	UTSW	10	108,034,752 (GRCm39)	missense	probably damaging	1.00
R2233:Ppp1r12a	UTSW	10	108,034,780 (GRCm39)	missense	possibly damaging	0.83
R2234:Ppp1r12a	UTSW	10	108,034,780 (GRCm39)	missense	possibly damaging	0.83
R3760:Ppp1r12a	UTSW	10	108,100,595 (GRCm39)	missense	probably damaging	1.00
R3856:Ppp1r12a	UTSW	10	108,089,362 (GRCm39)	intron	probably benign
R3973:Ppp1r12a	UTSW	10	108,089,341 (GRCm39)	missense	probably benign	0.44
R3974:Ppp1r12a	UTSW	10	108,089,341 (GRCm39)	missense	probably benign	0.44
R3976:Ppp1r12a	UTSW	10	108,089,341 (GRCm39)	missense	probably benign	0.44
R4502:Ppp1r12a	UTSW	10	108,085,339 (GRCm39)	missense	probably benign	0.26
R4902:Ppp1r12a	UTSW	10	108,066,451 (GRCm39)	missense	probably damaging	1.00
R5092:Ppp1r12a	UTSW	10	108,103,263 (GRCm39)	critical splice acceptor site	probably null
R5224:Ppp1r12a	UTSW	10	108,096,886 (GRCm39)	missense	probably benign	0.37
R5353:Ppp1r12a	UTSW	10	108,097,077 (GRCm39)	splice site	probably null
R5428:Ppp1r12a	UTSW	10	108,089,208 (GRCm39)	missense	possibly damaging	0.76
R5472:Ppp1r12a	UTSW	10	108,075,973 (GRCm39)	missense	probably damaging	1.00
R5510:Ppp1r12a	UTSW	10	108,085,488 (GRCm39)	missense	possibly damaging	0.82
R6217:Ppp1r12a	UTSW	10	108,076,045 (GRCm39)	splice site	probably null
R6274:Ppp1r12a	UTSW	10	108,096,751 (GRCm39)	missense	probably benign	0.00
R6431:Ppp1r12a	UTSW	10	108,098,281 (GRCm39)	missense	probably damaging	1.00
R6744:Ppp1r12a	UTSW	10	108,066,395 (GRCm39)	missense	probably damaging	1.00
R6838:Ppp1r12a	UTSW	10	108,097,137 (GRCm39)	missense	possibly damaging	0.76
R6865:Ppp1r12a	UTSW	10	108,098,242 (GRCm39)	nonsense	probably null
R6993:Ppp1r12a	UTSW	10	108,076,698 (GRCm39)	missense	probably benign	0.18
R7565:Ppp1r12a	UTSW	10	108,104,501 (GRCm39)	missense	probably benign	0.21
R8153:Ppp1r12a	UTSW	10	107,998,303 (GRCm39)	missense	probably damaging	0.98
R8174:Ppp1r12a	UTSW	10	108,107,598 (GRCm39)	missense	probably benign	0.26
R8407:Ppp1r12a	UTSW	10	108,076,042 (GRCm39)	critical splice donor site	probably null
R8422:Ppp1r12a	UTSW	10	108,077,042 (GRCm39)	missense	probably benign
R9090:Ppp1r12a	UTSW	10	108,098,224 (GRCm39)	missense	probably damaging	1.00
R9179:Ppp1r12a	UTSW	10	108,087,782 (GRCm39)	missense	probably damaging	1.00
R9271:Ppp1r12a	UTSW	10	108,098,224 (GRCm39)	missense	probably damaging	1.00
R9396:Ppp1r12a	UTSW	10	108,100,571 (GRCm39)	missense	probably damaging	1.00
R9683:Ppp1r12a	UTSW	10	108,096,747 (GRCm39)	missense	possibly damaging	0.78
X0027:Ppp1r12a	UTSW	10	108,050,284 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCAAACCTCGAGTTAATGTGTG -3'
(R):5'- TCTCAGCACTGTGAGAACGC -3'

Sequencing Primer
(F):5'- ACCTCGAGTTAATGTGTGAAAATG -3'
(R):5'- CACTGTGAGAACGCTAAGAGCC -3'

Posted On

2021-04-30