Mutagenetix > Incidental Mutation

Incidental Mutation 'R3038:Ppp1r18'

264888

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r18

Ensembl Gene

ENSMUSG00000034595

Gene Name

protein phosphatase 1, regulatory subunit 18

Synonyms

2310014H01Rik

MMRRC Submission

040554-MU

Accession Numbers

Essential gene?

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

Stock #

R3038 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36176485-36186488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36179274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 383 (L383P)

Ref Sequence

ENSEMBL: ENSMUSP00000141094 (fasta)

Gene Model

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

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: L383P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109445
Gene: ENSMUSG00000034595
AA Change: L383P

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: L383P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120343
Gene: ENSMUSG00000034595
AA Change: L383P

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: L383P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115753
Gene: ENSMUSG00000034595
AA Change: L383P

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: L383P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116100
Gene: ENSMUSG00000034595
AA Change: L383P

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

noncoding transcript
Transcript: ENSMUST00000145804

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

noncoding transcript
Transcript: ENSMUST00000184224

Predicted Effect

probably damaging
Transcript: ENSMUST00000187690
AA Change: L383P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141094
Gene: ENSMUSG00000034595
AA Change: L383P

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bspry	A	G	4: 62,415,220 (GRCm39)	I468V	probably benign	Het
Cavin2	T	A	1: 51,340,416 (GRCm39)	N364K	possibly damaging	Het
Ces1f	T	A	8: 93,983,226 (GRCm39)	N506I	probably damaging	Het
Dnhd1	A	T	7: 105,369,436 (GRCm39)	Q4353L	probably damaging	Het
Dsc3	T	C	18: 20,124,617 (GRCm39)	T36A	possibly damaging	Het
Hydin	A	G	8: 111,309,321 (GRCm39)	T4038A	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kif1b	T	C	4: 149,297,790 (GRCm39)	I1083V	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Mrgpra1	G	A	7: 46,984,744 (GRCm39)	Q312*	probably null	Het
Pcdha1	T	A	18: 37,064,064 (GRCm39)	F243I	probably damaging	Het
Tmed9	A	G	13: 55,744,792 (GRCm39)	K207E	probably damaging	Het
Tnfrsf19	A	G	14: 61,209,512 (GRCm39)	S253P	probably benign	Het
Tspear	T	A	10: 77,722,273 (GRCm39)	Y624*	probably null	Het
Vmn2r16	G	A	5: 109,487,199 (GRCm39)	C140Y	probably damaging	Het
Vwa7	T	C	17: 35,241,637 (GRCm39)	V424A	probably damaging	Het
Zgpat	TGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGA	2: 181,007,811 (GRCm39)		probably benign	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
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
R7767:Ppp1r18	UTSW	17	36,178,176 (GRCm39)	missense	probably damaging	1.00
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'- AAACTCTGGGAAGGCTCGAG -3'
(R):5'- CAGTGAAGGTGTGTCCACTG -3'

Sequencing Primer
(F):5'- TCGAGAACGGACGACCTG -3'
(R):5'- GTGTGTCCACTGCGGCG -3'

Posted On

2015-02-05