Mutagenetix > Incidental Mutation

Incidental Mutation 'R7767:Ppp1r18'

598339

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r18

Ensembl Gene

ENSMUSG00000034595

Gene Name

protein phosphatase 1, regulatory subunit 18

Synonyms

2310014H01Rik

MMRRC Submission

045823-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R7767 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36176485-36186488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36178176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 17 (Q17R)

Ref Sequence

ENSEMBL: ENSMUSP00000115753 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074259] [ENSMUST00000113814] [ENSMUST00000122899] [ENSMUST00000127442] [ENSMUST00000144382] [ENSMUST00000174873] [ENSMUST00000187690] [ENSMUST00000190496]

AlphaFold

Q8BQ30

Predicted Effect

probably benign
Transcript: ENSMUST00000074259

SMART Domains

Protein: ENSMUSP00000073873
Gene: ENSMUSG00000059791

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
transmembrane domain	94	116	N/A	INTRINSIC
transmembrane domain	136	158	N/A	INTRINSIC
low complexity region	212	234	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113814
AA Change: Q17R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109445
Gene: ENSMUSG00000034595
AA Change: Q17R

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000122899
AA Change: Q17R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120343
Gene: ENSMUSG00000034595
AA Change: Q17R

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000127442
AA Change: Q17R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115753
Gene: ENSMUSG00000034595
AA Change: Q17R

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	27	117	1.5e-39	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	540	6.9e-34	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000144382
AA Change: Q17R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116100
Gene: ENSMUSG00000034595
AA Change: Q17R

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172931

SMART Domains

Protein: ENSMUSP00000134569
Gene: ENSMUSG00000059791

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174873

SMART Domains

Protein: ENSMUSP00000133355
Gene: ENSMUSG00000059791

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000187690
AA Change: Q17R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141094
Gene: ENSMUSG00000034595
AA Change: Q17R

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190496

SMART Domains

Protein: ENSMUSP00000140652
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin	1	113	3.6e-43	PFAM
low complexity region	132	145	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	C	A	1: 58,274,366 (GRCm39)	S384Y	probably damaging	Het
Arhgef15	T	C	11: 68,844,673 (GRCm39)	E308G	probably damaging	Het
Asb15	A	G	6: 24,559,281 (GRCm39)	D142G	probably benign	Het
Atg13	A	G	2: 91,509,711 (GRCm39)	S394P	probably damaging	Het
Atp10a	G	C	7: 58,308,597 (GRCm39)	W132S	probably damaging	Het
Bltp1	G	T	3: 36,974,436 (GRCm39)		probably null	Het
Bod1l	T	A	5: 41,974,099 (GRCm39)	N2405I	probably benign	Het
Capsl	C	T	15: 9,462,770 (GRCm39)	R137C	probably damaging	Het
Cd109	T	A	9: 78,617,441 (GRCm39)	M1313K	probably damaging	Het
Chst13	G	A	6: 90,286,566 (GRCm39)	A132V	possibly damaging	Het
Cobl	T	C	11: 12,362,117 (GRCm39)		probably benign	Het
Coq9	A	T	8: 95,577,214 (GRCm39)	E193V	probably benign	Het
Cpd	T	A	11: 76,704,385 (GRCm39)	I410F	probably benign	Het
Cyth3	T	G	5: 143,693,229 (GRCm39)	V351G	probably damaging	Het
Dcdc2c	T	C	12: 28,520,256 (GRCm39)	K607E		Het
Dcp1a	T	C	14: 30,201,775 (GRCm39)		probably null	Het
Dennd3	A	G	15: 73,394,079 (GRCm39)	I35V	probably benign	Het
Dlgap4	C	T	2: 156,587,973 (GRCm39)	R606W	probably damaging	Het
Dnhd1	A	G	7: 105,343,817 (GRCm39)	I1720M	probably benign	Het
Erbin	A	G	13: 103,995,907 (GRCm39)	L265P	probably damaging	Het
Ern1	T	C	11: 106,291,134 (GRCm39)	D847G	probably damaging	Het
Esyt3	T	G	9: 99,207,024 (GRCm39)	S342R	probably benign	Het
Exoc2	A	T	13: 31,060,752 (GRCm39)	I584K	probably benign	Het
Fam240a	T	C	9: 110,744,090 (GRCm39)	R50G	probably damaging	Het
Glis3	A	T	19: 28,241,360 (GRCm39)	M858K	probably benign	Het
Gls2	C	T	10: 128,030,998 (GRCm39)	R86C	unknown	Het
Gm10972	C	A	3: 94,550,901 (GRCm39)	Y25*	probably null	Het
H2-T10	A	T	17: 36,428,622 (GRCm39)	M350K	probably benign	Het
Has1	A	T	17: 18,070,792 (GRCm39)	V43D	probably damaging	Het
Herc2	T	A	7: 55,878,275 (GRCm39)	S4609R	probably benign	Het
Hmgcs2	A	C	3: 98,198,582 (GRCm39)	T162P	probably damaging	Het
Hspg2	G	T	4: 137,239,177 (GRCm39)	C368F	probably damaging	Het
Ighv11-1	A	G	12: 113,945,722 (GRCm39)	S44P	probably damaging	Het
Inppl1	A	G	7: 101,473,545 (GRCm39)	V1035A	probably benign	Het
Kmt2a	C	T	9: 44,730,295 (GRCm39)	V3341I	unknown	Het
Lrp1b	T	C	2: 40,691,517 (GRCm39)	N3434S		Het
Lrriq1	G	C	10: 103,051,815 (GRCm39)	S312R	probably damaging	Het
Map1a	G	A	2: 121,132,517 (GRCm39)	S1111N	probably damaging	Het
Myo15a	T	C	11: 60,392,922 (GRCm39)	V1029A		Het
Nol11	T	C	11: 107,069,908 (GRCm39)	H314R	possibly damaging	Het
Nphs1	A	T	7: 30,162,733 (GRCm39)	D404V	probably damaging	Het
Odr4	A	G	1: 150,247,788 (GRCm39)	V387A	probably benign	Het
Or51r1	A	T	7: 102,220,971 (GRCm39)		probably benign	Het
Pabpc2	T	C	18: 39,907,607 (GRCm39)	Y291H	possibly damaging	Het
Pcdh15	G	A	10: 74,322,088 (GRCm39)	A1020T	probably benign	Het
Pla2g4f	A	C	2: 120,135,490 (GRCm39)	S395A	possibly damaging	Het
Prokr2	A	T	2: 132,215,996 (GRCm39)	V155D	probably damaging	Het
Pwwp2a	T	G	11: 43,596,696 (GRCm39)	C620W	probably damaging	Het
Rabepk	T	C	2: 34,675,605 (GRCm39)	D175G	probably damaging	Het
Rad54l	T	C	4: 115,956,866 (GRCm39)	Y485C	probably damaging	Het
Rasef	A	G	4: 73,652,771 (GRCm39)	S577P	probably damaging	Het
Rgma	C	A	7: 73,067,752 (GRCm39)	L446I	unknown	Het
Rnf212b	T	C	14: 55,079,825 (GRCm39)	S182P	probably damaging	Het
Rnf6	C	A	5: 146,147,986 (GRCm39)	R344I	probably damaging	Het
Rnf6	T	A	5: 146,147,987 (GRCm39)	R344*	probably null	Het
Sgo1	A	G	17: 53,986,639 (GRCm39)	I184T	possibly damaging	Het
Sgpl1	A	T	10: 60,953,502 (GRCm39)	I78N	possibly damaging	Het
Snx13	T	A	12: 35,157,483 (GRCm39)	Y510N	probably damaging	Het
Sptbn2	G	A	19: 4,784,171 (GRCm39)	E638K	possibly damaging	Het
Sspo	A	G	6: 48,428,316 (GRCm39)	T349A	probably damaging	Het
Sv2c	C	T	13: 96,126,223 (GRCm39)	S343N	probably damaging	Het
Syne1	C	A	10: 5,283,560 (GRCm39)	V1502F	possibly damaging	Het
Syne1	T	A	10: 5,283,632 (GRCm39)	I1478F	possibly damaging	Het
Tmem121	C	T	12: 113,151,992 (GRCm39)	A70V	probably damaging	Het
Tmem215	A	G	4: 40,474,042 (GRCm39)	I40V	possibly damaging	Het
Trim25	A	G	11: 88,899,943 (GRCm39)		probably null	Het
Trio	A	G	15: 27,889,504 (GRCm39)	V534A	unknown	Het
Tyr	T	A	7: 87,142,218 (GRCm39)	E114V	probably benign	Het
Ush2a	A	T	1: 188,285,457 (GRCm39)	T1998S	probably benign	Het
Usp40	G	T	1: 87,909,900 (GRCm39)	A518E	probably benign	Het
Usp48	T	A	4: 137,331,956 (GRCm39)		probably null	Het
Vash1	T	A	12: 86,733,767 (GRCm39)	F152L	probably damaging	Het
Vsig10l	C	A	7: 43,113,141 (GRCm39)	P31Q	probably damaging	Het
Xab2	C	T	8: 3,669,018 (GRCm39)	E43K	probably benign	Het
Zfp423	G	A	8: 88,507,512 (GRCm39)	S944F	probably damaging	Het
Zp2	A	T	7: 119,736,392 (GRCm39)	D350E	probably benign	Het
Zscan4e	T	G	7: 11,041,461 (GRCm39)	Q165P	probably damaging	Het

Other mutations in Ppp1r18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02285:Ppp1r18	APN	17	36,178,148 (GRCm39)	missense	probably damaging	1.00
IGL03188:Ppp1r18	APN	17	36,178,857 (GRCm39)	missense	possibly damaging	0.94
IGL03339:Ppp1r18	APN	17	36,178,938 (GRCm39)	missense	probably benign	0.00
R0098:Ppp1r18	UTSW	17	36,178,888 (GRCm39)	missense	probably benign	0.31
R0098:Ppp1r18	UTSW	17	36,178,888 (GRCm39)	missense	probably benign	0.31
R0310:Ppp1r18	UTSW	17	36,184,603 (GRCm39)	splice site	probably benign
R1569:Ppp1r18	UTSW	17	36,179,595 (GRCm39)	missense	probably damaging	1.00
R1903:Ppp1r18	UTSW	17	36,184,738 (GRCm39)	missense	probably damaging	0.98
R3038:Ppp1r18	UTSW	17	36,179,274 (GRCm39)	missense	probably damaging	1.00
R3082:Ppp1r18	UTSW	17	36,184,742 (GRCm39)	missense	probably damaging	1.00
R4513:Ppp1r18	UTSW	17	36,179,196 (GRCm39)	missense	probably damaging	0.98
R5301:Ppp1r18	UTSW	17	36,179,237 (GRCm39)	missense	probably benign	0.00
R5415:Ppp1r18	UTSW	17	36,178,511 (GRCm39)	missense	probably benign	0.00
R5482:Ppp1r18	UTSW	17	36,184,771 (GRCm39)	missense	probably damaging	1.00
R5707:Ppp1r18	UTSW	17	36,178,128 (GRCm39)	start codon destroyed	probably null	0.99
R6235:Ppp1r18	UTSW	17	36,184,769 (GRCm39)	missense	probably damaging	1.00
R7062:Ppp1r18	UTSW	17	36,179,103 (GRCm39)	missense	probably damaging	0.99
R7620:Ppp1r18	UTSW	17	36,178,191 (GRCm39)	missense	probably benign	0.03
R7993:Ppp1r18	UTSW	17	36,184,718 (GRCm39)	missense	probably benign
R8736:Ppp1r18	UTSW	17	36,184,711 (GRCm39)	missense	probably benign
R9416:Ppp1r18	UTSW	17	36,184,743 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AACTTGGCACCCAGCTTTTC -3'
(R):5'- TGTACTGGTCCAATAGCCTCC -3'

Sequencing Primer
(F):5'- GGCACCCAGCTTTTCTCTTCAG -3'
(R):5'- TGTACTGGTCCAATAGCCTCCAAAAG -3'

Posted On

2019-11-26