Mutagenetix > Incidental Mutation

Incidental Mutation 'R1616:Ppp1r12a'

174272

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

039653-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107997913-108115846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108096728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 183 (E183G)

Ref Sequence

ENSEMBL: ENSMUSP00000151478 (fasta)

Gene Model

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

AlphaFold

Q9DBR7

Predicted Effect

probably damaging
Transcript: ENSMUST00000070663
AA Change: E706G

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

SMART Domains

Protein: ENSMUSP00000069257
Gene: ENSMUSG00000019907
AA Change: E706G

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

noncoding transcript
Transcript: ENSMUST00000218161

Predicted Effect

probably damaging
Transcript: ENSMUST00000219263
AA Change: E706G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000219759
AA Change: E183G

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

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.3%
20x: 85.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	T	C	10: 20,187,087 (GRCm39)		probably benign	Het
A1cf	A	G	19: 31,912,175 (GRCm39)	E430G	probably damaging	Het
Aacs	T	A	5: 125,561,590 (GRCm39)		probably null	Het
Acot12	G	A	13: 91,920,886 (GRCm39)	V331I	probably benign	Het
Acp7	A	G	7: 28,310,503 (GRCm39)	W445R	probably damaging	Het
Actl11	C	A	9: 107,809,135 (GRCm39)	Q1153K	probably benign	Het
Actr8	A	G	14: 29,704,601 (GRCm39)	T34A	possibly damaging	Het
Ahnak	A	G	19: 8,986,351 (GRCm39)	D2545G	possibly damaging	Het
Ap5z1	A	G	5: 142,457,991 (GRCm39)	Y388C	probably benign	Het
Apol7a	C	T	15: 77,273,806 (GRCm39)	G219S	probably damaging	Het
Arid1b	T	A	17: 5,389,569 (GRCm39)	I1705N	probably damaging	Het
Bod1l	T	C	5: 41,966,058 (GRCm39)	Q2669R	probably benign	Het
Braf	A	T	6: 39,620,067 (GRCm39)	S504T	probably benign	Het
Cbl	A	T	9: 44,064,197 (GRCm39)	Y780N	probably damaging	Het
Cd86	T	C	16: 36,449,338 (GRCm39)	I20V	probably benign	Het
Cep290	T	G	10: 100,404,698 (GRCm39)	D2353E	probably benign	Het
Ckmt2	G	A	13: 92,007,328 (GRCm39)	R289C	probably benign	Het
Col3a1	T	C	1: 45,367,648 (GRCm39)		probably null	Het
Cyp4f16	T	A	17: 32,761,942 (GRCm39)	Y163*	probably null	Het
Dimt1	T	C	13: 107,089,958 (GRCm39)	V227A	possibly damaging	Het
Dnah6	A	T	6: 73,077,095 (GRCm39)	M2338K	probably benign	Het
Dock4	T	G	12: 40,719,044 (GRCm39)	I274S	probably damaging	Het
Enthd1	T	C	15: 80,336,586 (GRCm39)	D616G	probably damaging	Het
Fignl2	T	C	15: 100,951,997 (GRCm39)	E95G	probably damaging	Het
Foxn1	A	G	11: 78,249,692 (GRCm39)	M611T	probably benign	Het
Foxs1	T	C	2: 152,774,559 (GRCm39)	S165G	probably benign	Het
Fzd3	G	T	14: 65,472,956 (GRCm39)	Q271K	probably benign	Het
Hadhb	A	T	5: 30,371,713 (GRCm39)	I55F	probably damaging	Het
Hipk3	G	A	2: 104,264,090 (GRCm39)	Q824*	probably null	Het
Hps1	G	A	19: 42,755,624 (GRCm39)	R201W	probably damaging	Het
Kif21b	T	C	1: 136,099,423 (GRCm39)	S1477P	probably damaging	Het
Kif26a	A	T	12: 112,123,680 (GRCm39)		probably null	Het
Krt90	T	C	15: 101,469,026 (GRCm39)	E172G	possibly damaging	Het
Lama4	T	G	10: 38,951,446 (GRCm39)	F1064V	probably damaging	Het
Leng9	A	G	7: 4,151,902 (GRCm39)	V258A	probably benign	Het
Lgi2	A	C	5: 52,703,980 (GRCm39)	V217G	probably benign	Het
Lpgat1	T	C	1: 191,495,741 (GRCm39)	I310T	possibly damaging	Het
Ltbp3	A	G	19: 5,796,995 (GRCm39)	Y374C	probably damaging	Het
Magi2	C	A	5: 20,814,324 (GRCm39)	T1075K	probably damaging	Het
Man2c1	T	C	9: 57,042,793 (GRCm39)	I221T	probably benign	Het
Mydgf	A	G	17: 56,486,415 (GRCm39)	M72T	possibly damaging	Het
Myo1b	T	C	1: 51,815,474 (GRCm39)	N624S	probably damaging	Het
Myo5c	T	A	9: 75,203,299 (GRCm39)	M1465K	probably damaging	Het
Nek4	A	T	14: 30,709,094 (GRCm39)	D716V	probably damaging	Het
Nfxl1	T	A	5: 72,686,380 (GRCm39)	Q607L	probably benign	Het
Nlrp9c	A	T	7: 26,083,862 (GRCm39)	D572E	probably benign	Het
Nop14	G	T	5: 34,807,757 (GRCm39)	Q402K	possibly damaging	Het
Npy5r	C	G	8: 67,134,052 (GRCm39)	C247S	probably damaging	Het
Nrap	T	A	19: 56,378,255 (GRCm39)	I19F	probably damaging	Het
Or4c102	A	G	2: 88,422,352 (GRCm39)	D68G	probably damaging	Het
Or51t4	T	A	7: 102,597,721 (GRCm39)	N16K	probably damaging	Het
Or6z3	T	G	7: 6,463,744 (GRCm39)	S79A	probably damaging	Het
Pcdh9	A	T	14: 94,124,405 (GRCm39)	Y588*	probably null	Het
Ppp2r2b	T	A	18: 42,821,375 (GRCm39)	H261L	probably benign	Het
Ptch1	G	T	13: 63,687,656 (GRCm39)	T374K	possibly damaging	Het
Ptpn13	A	T	5: 103,713,103 (GRCm39)	N1742I	possibly damaging	Het
Rab33a	C	T	X: 47,608,521 (GRCm39)	S15L	probably benign	Het
Ralb	T	C	1: 119,405,744 (GRCm39)	Y75C	probably damaging	Het
Rassf7	T	A	7: 140,796,645 (GRCm39)	V2D	probably damaging	Het
Rbm10	A	G	X: 20,512,230 (GRCm39)	N397S	probably benign	Het
Rbm15	T	C	3: 107,238,197 (GRCm39)	T734A	probably benign	Het
Rbm8a	G	T	3: 96,539,046 (GRCm39)		probably benign	Het
Rock2	T	C	12: 17,022,986 (GRCm39)	I1095T	probably benign	Het
Rxfp3	T	A	15: 11,036,389 (GRCm39)	T328S	probably damaging	Het
Sec31a	T	A	5: 100,534,054 (GRCm39)	K505N	possibly damaging	Het
Selenof	A	G	3: 144,302,642 (GRCm39)	*122W	probably null	Het
Sh3pxd2b	T	C	11: 32,331,441 (GRCm39)	M55T	possibly damaging	Het
Slc15a2	T	C	16: 36,574,843 (GRCm39)	D522G	probably benign	Het
Slc2a1	T	C	4: 118,993,503 (GRCm39)	F447L	probably damaging	Het
Slc45a2	T	A	15: 11,022,214 (GRCm39)	C319S	probably null	Het
Smad4	T	C	18: 73,773,333 (GRCm39)	D551G	probably benign	Het
Smarcc2	A	G	10: 128,318,662 (GRCm39)	Y648C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Stab2	A	T	10: 86,721,582 (GRCm39)		probably null	Het
Tanc1	A	G	2: 59,615,731 (GRCm39)	D246G	probably damaging	Het
Tekt3	T	G	11: 62,978,024 (GRCm39)		probably null	Het
Them5	G	A	3: 94,253,567 (GRCm39)		probably null	Het
Tlr4	T	A	4: 66,757,717 (GRCm39)	F170Y	probably damaging	Het
Tmem214	T	G	5: 31,028,907 (GRCm39)	Y165*	probably null	Het
Tmem94	T	C	11: 115,686,971 (GRCm39)		probably null	Het
Tom1l1	A	G	11: 90,547,177 (GRCm39)	L301S	possibly damaging	Het
Trpm3	A	G	19: 22,960,076 (GRCm39)	E1237G	probably damaging	Het
Ube2d1	C	A	10: 71,092,523 (GRCm39)	C107F	probably damaging	Het
Ugt3a1	C	T	15: 9,306,330 (GRCm39)	R160*	probably null	Het
Vcan	G	A	13: 89,853,782 (GRCm39)	P393S	probably damaging	Het
Virma	T	C	4: 11,544,954 (GRCm39)	F1638L	probably damaging	Het
Vmn1r31	G	A	6: 58,449,043 (GRCm39)	T274I	probably damaging	Het
Xylt2	C	T	11: 94,559,035 (GRCm39)	S445N	probably damaging	Het
Zfp457	A	G	13: 67,444,375 (GRCm39)	F43L	possibly damaging	Het
Zfp879	T	A	11: 50,723,473 (GRCm39)	M455L	probably benign	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
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
R8716:Ppp1r12a	UTSW	10	108,096,749 (GRCm39)	missense	probably damaging	1.00
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'- GAGGAGTCCAACCTGAACACTGAAG -3'
(R):5'- AGCACTGTGAGAACGCTAAGAGCC -3'

Sequencing Primer
(F):5'- CACTGAAGATTGTGTCAAACCTCG -3'
(R):5'- GTGCTGCCCACAGCATTAC -3'

Posted On

2014-04-24