Mutagenetix > Incidental Mutation

Incidental Mutation 'R5092:Ppp1r12a'

387846

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

042681-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107997913-108115846 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 108103263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151478 (fasta)

Gene Model

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

AlphaFold

Q9DBR7

Predicted Effect

probably null
Transcript: ENSMUST00000070663

SMART Domains

Protein: ENSMUSP00000069257
Gene: ENSMUSG00000019907

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 null
Transcript: ENSMUST00000219263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219653

Predicted Effect

probably null
Transcript: ENSMUST00000219759

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,637,091 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,208,535 (GRCm39)	L236Q	probably damaging	Het
Acp2	A	T	2: 91,038,391 (GRCm39)	T255S	probably benign	Het
Acsf3	A	C	8: 123,544,131 (GRCm39)	R536S	probably benign	Het
Adgrb1	T	G	15: 74,401,664 (GRCm39)	V220G	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Atp5f1b	A	G	10: 127,919,854 (GRCm39)	Q74R	probably benign	Het
Bltp1	A	T	3: 37,054,234 (GRCm39)	M3118L	probably benign	Het
Brf1	G	A	12: 112,943,352 (GRCm39)	T166M	probably damaging	Het
Capn9	A	G	8: 125,324,264 (GRCm39)	K188R	probably damaging	Het
Casp8	A	T	1: 58,883,835 (GRCm39)	N381Y	possibly damaging	Het
Ccdc88b	A	G	19: 6,825,600 (GRCm39)	S1218P	probably damaging	Het
Cdc42bpg	C	T	19: 6,363,250 (GRCm39)	P403S	probably benign	Het
Cdkal1	T	A	13: 30,030,222 (GRCm39)	Y91F	probably damaging	Het
Cdyl2	T	C	8: 117,350,679 (GRCm39)	N151D	possibly damaging	Het
Cnot1	T	A	8: 96,479,396 (GRCm39)	R875S	possibly damaging	Het
Cpd	A	G	11: 76,702,530 (GRCm39)	S613P	possibly damaging	Het
Cyp2e1	G	T	7: 140,354,648 (GRCm39)	R492L	probably damaging	Het
D5Ertd579e	G	A	5: 36,760,047 (GRCm39)	T1371M	probably benign	Het
Dcaf8	A	G	1: 172,014,476 (GRCm39)	T394A	probably benign	Het
Dgka	T	C	10: 128,571,702 (GRCm39)	E117G	probably damaging	Het
Dock4	G	A	12: 40,894,440 (GRCm39)	V1867I	probably benign	Het
E2f2	G	T	4: 135,914,248 (GRCm39)	A333S	probably benign	Het
Eif3l	T	C	15: 78,968,354 (GRCm39)	S208P	probably benign	Het
Elovl3	A	T	19: 46,122,961 (GRCm39)	H179L	probably damaging	Het
Eml5	T	C	12: 98,758,875 (GRCm39)	D1766G	probably damaging	Het
Eno4	A	G	19: 58,934,023 (GRCm39)	T75A	probably benign	Het
Fam135a	C	T	1: 24,067,888 (GRCm39)	D94N	probably benign	Het
Fasn	G	T	11: 120,705,862 (GRCm39)	Q1136K	probably benign	Het
Fcer1a	T	G	1: 173,053,022 (GRCm39)	N58T	probably damaging	Het
Frmd4b	T	A	6: 97,272,941 (GRCm39)	D763V	probably damaging	Het
Gm43518	A	G	5: 124,076,297 (GRCm39)	T115A	probably damaging	Het
Gria4	C	T	9: 4,472,176 (GRCm39)	E438K	probably benign	Het
Grin2d	T	C	7: 45,503,692 (GRCm39)	E681G	probably damaging	Het
Gtf3c5	G	T	2: 28,472,885 (GRCm39)	N35K	possibly damaging	Het
Hydin	A	G	8: 111,309,300 (GRCm39)	T4031A	probably benign	Het
Igfn1	G	T	1: 135,892,564 (GRCm39)	N2185K	probably benign	Het
Il17rb	T	C	14: 29,724,333 (GRCm39)	T174A	probably benign	Het
Kdm3b	T	A	18: 34,946,515 (GRCm39)	C835S	probably benign	Het
Lgi2	A	T	5: 52,695,429 (GRCm39)	I510N	probably damaging	Het
Map3k6	A	G	4: 132,979,054 (GRCm39)	E1164G	probably benign	Het
Mpv17l	T	A	16: 13,758,537 (GRCm39)	M1K	probably null	Het
Myoc	T	A	1: 162,467,203 (GRCm39)	L124Q	probably damaging	Het
Nbeal2	C	A	9: 110,455,796 (GRCm39)		probably null	Het
Nek10	A	G	14: 14,820,851 (GRCm38)	K13E	possibly damaging	Het
Nt5dc2	A	G	14: 30,860,989 (GRCm39)	H491R	possibly damaging	Het
Or4f61	A	C	2: 111,922,452 (GRCm39)	M198R	possibly damaging	Het
Or51b6	T	A	7: 103,556,406 (GRCm39)	Y250*	probably null	Het
Or8k21	T	C	2: 86,144,706 (GRCm39)	Q308R	probably benign	Het
Pclo	T	A	5: 14,727,322 (GRCm39)		probably benign	Het
Pgm2	A	T	5: 64,265,092 (GRCm39)	N371I	possibly damaging	Het
Phf20l1	T	A	15: 66,508,762 (GRCm39)	S873T	possibly damaging	Het
Plch1	T	C	3: 63,606,131 (GRCm39)	T1249A	probably benign	Het
Plekhn1	A	T	4: 156,309,222 (GRCm39)	I228N	possibly damaging	Het
Ptchd3	T	C	11: 121,721,972 (GRCm39)	Y282H	probably damaging	Het
Ptprk	T	A	10: 28,468,769 (GRCm39)	N1396K	probably damaging	Het
Rap1gap2	T	C	11: 74,329,121 (GRCm39)	E81G	probably damaging	Het
Rpf2	T	C	10: 40,122,971 (GRCm39)	M1V	probably null	Het
Rpgrip1l	G	A	8: 91,948,012 (GRCm39)	Q1224*	probably null	Het
Rreb1	A	G	13: 38,112,254 (GRCm39)	D286G	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Senp5	A	T	16: 31,807,960 (GRCm39)	N431K	probably benign	Het
Serpina1f	A	C	12: 103,659,809 (GRCm39)	S158A	probably damaging	Het
Sertad3	T	A	7: 27,176,145 (GRCm39)	I193N	probably damaging	Het
Slc22a8	T	A	19: 8,571,528 (GRCm39)	N86K	probably damaging	Het
Slc6a2	T	C	8: 93,721,347 (GRCm39)	V492A	possibly damaging	Het
Slf2	T	A	19: 44,940,523 (GRCm39)	D773E	probably benign	Het
Slmap	A	C	14: 26,184,744 (GRCm39)	L272R	probably damaging	Het
Smyd5	T	C	6: 85,422,185 (GRCm39)		probably benign	Het
Snx21	G	T	2: 164,628,666 (GRCm39)	R103L	probably damaging	Het
Sphk2	T	A	7: 45,361,777 (GRCm39)		probably null	Het
Stab1	T	C	14: 30,867,812 (GRCm39)	K1653E	probably benign	Het
Syde1	A	G	10: 78,425,252 (GRCm39)	V253A	probably benign	Het
Sympk	G	T	7: 18,776,584 (GRCm39)	R492L	probably benign	Het
Taar7f	T	C	10: 23,925,451 (GRCm39)	I15T	probably benign	Het
Tas2r140	A	G	6: 40,468,200 (GRCm39)	D10G	probably benign	Het
Tbcc	A	G	17: 47,202,600 (GRCm39)	S329G	probably benign	Het
Teddm3	G	A	16: 20,971,900 (GRCm39)	T223M	probably benign	Het
Tex14	G	T	11: 87,405,668 (GRCm39)	C860F	probably benign	Het
Thada	A	T	17: 84,751,896 (GRCm39)	L360Q	probably damaging	Het
Thop1	C	A	10: 80,916,412 (GRCm39)	H473Q	probably damaging	Het
Tln2	T	C	9: 67,163,310 (GRCm39)	D1075G	probably benign	Het
Tmem130	G	A	5: 144,680,528 (GRCm39)	T292I	probably benign	Het
Tmem198b	T	C	10: 128,637,305 (GRCm39)	N278S	probably benign	Het
Ttc21a	A	T	9: 119,771,731 (GRCm39)	T177S	probably benign	Het
Ubr2	A	T	17: 47,280,173 (GRCm39)	C659S	probably damaging	Het
Vmn2r4	T	C	3: 64,298,373 (GRCm39)	K585R	probably benign	Het
Vmn2r86	A	G	10: 130,282,456 (GRCm39)	I720T	probably damaging	Het
Wdr35	G	T	12: 9,037,327 (GRCm39)	W311L	probably damaging	Het
Zfp39	A	T	11: 58,782,028 (GRCm39)	F245I	possibly damaging	Het
Zftraf1	A	T	15: 76,530,512 (GRCm39)	F269L	probably benign	Het
Zmym5	G	A	14: 57,034,236 (GRCm39)	T325I	probably benign	Het
Zng1	A	T	19: 24,898,383 (GRCm39)		probably null	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
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'- GAGTCTGTGTTCTAAAGTCTCCC -3'
(R):5'- GCAACAGTGATTAGGTCATCATAC -3'

Sequencing Primer
(F):5'- AGTCTCCCTAAGAGTGAGCATTC -3'
(R):5'- TTGGTAGCAAGCACTTCAGC -3'

Posted On

2016-06-06