Mutagenetix > Incidental Mutation

Incidental Mutation 'R6235:Ppp1r18'

504912

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r18

Ensembl Gene

ENSMUSG00000034595

Gene Name

protein phosphatase 1, regulatory subunit 18

Synonyms

2310014H01Rik

MMRRC Submission

044433-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R6235 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

36176485-36186488 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36184769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 140 (E140G)

Ref Sequence

ENSEMBL: ENSMUSP00000140652 (fasta)

Gene Model

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

AlphaFold

Q8BQ30

Predicted Effect

probably damaging
Transcript: ENSMUST00000113814
AA Change: E568G

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

SMART Domains

Protein: ENSMUSP00000109445
Gene: ENSMUSG00000034595
AA Change: E568G

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: E568G

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

SMART Domains

Protein: ENSMUSP00000120343
Gene: ENSMUSG00000034595
AA Change: E568G

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: E568G

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

SMART Domains

Protein: ENSMUSP00000115753
Gene: ENSMUSG00000034595
AA Change: E568G

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: E568G

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

SMART Domains

Protein: ENSMUSP00000116100
Gene: ENSMUSG00000034595
AA Change: E568G

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: ENSMUST00000187690
AA Change: E568G

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

SMART Domains

Protein: ENSMUSP00000141094
Gene: ENSMUSG00000034595
AA Change: E568G

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: ENSMUST00000190496
AA Change: E140G

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

SMART Domains

Protein: ENSMUSP00000140652
Gene: ENSMUSG00000034595
AA Change: E140G

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

Meta Mutation Damage Score

0.1064

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

95% (73/77)

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
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Adam6b	T	C	12: 113,455,330 (GRCm39)	F716L	probably benign	Het
Akip1	A	G	7: 109,306,620 (GRCm39)	M106V	probably benign	Het
Aldh1l1	A	T	6: 90,541,439 (GRCm39)	I278F	probably benign	Het
Aplnr	A	G	2: 84,967,970 (GRCm39)	T332A	probably benign	Het
Aqp4	A	G	18: 15,531,170 (GRCm39)	V197A	probably damaging	Het
Arid4a	A	T	12: 71,116,546 (GRCm39)		probably null	Het
Baiap2	A	T	11: 119,872,234 (GRCm39)	N99Y	probably damaging	Het
Ceacam1	A	T	7: 25,171,217 (GRCm39)		probably null	Het
Cep78	T	C	19: 15,953,850 (GRCm39)		probably null	Het
Cldn3	T	C	5: 135,015,573 (GRCm39)	F92S	possibly damaging	Het
Clec16a	C	A	16: 10,512,499 (GRCm39)	P812Q	probably damaging	Het
Cnga4	T	G	7: 105,056,906 (GRCm39)	Y336*	probably null	Het
Copg2	A	G	6: 30,793,006 (GRCm39)	I443T	probably damaging	Het
Crhbp	C	A	13: 95,580,358 (GRCm39)	A81S	probably damaging	Het
Csad	A	T	15: 102,087,041 (GRCm39)	V410D	probably damaging	Het
Ctps1	G	A	4: 120,416,003 (GRCm39)	L207F	probably benign	Het
Dab2ip	A	G	2: 35,613,099 (GRCm39)	E1003G	probably damaging	Het
Ddx31	C	G	2: 28,734,854 (GRCm39)	A5G	probably benign	Het
Dnah12	A	T	14: 26,576,761 (GRCm39)	I3004F	probably damaging	Het
Fbxo15	A	G	18: 84,999,029 (GRCm39)		probably benign	Het
Fbxw28	C	A	9: 109,155,258 (GRCm39)	W356C	probably damaging	Het
Gimap6	G	T	6: 48,679,391 (GRCm39)	T215K	probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Hunk	A	G	16: 90,229,594 (GRCm39)	I152V	probably damaging	Het
Itk	T	C	11: 46,227,255 (GRCm39)	E456G	probably benign	Het
Krt40	G	A	11: 99,433,920 (GRCm39)	A22V	possibly damaging	Het
Lars2	T	C	9: 123,240,945 (GRCm39)	V204A	probably damaging	Het
Lipo3	A	G	19: 33,760,963 (GRCm39)	Y140H	probably damaging	Het
Lrp1	G	A	10: 127,424,046 (GRCm39)	R809W	probably damaging	Het
Magi3	C	T	3: 103,923,384 (GRCm39)	G1111D	probably damaging	Het
Mis18bp1	A	T	12: 65,205,182 (GRCm39)	V47E	probably damaging	Het
Mpdz	T	C	4: 81,303,518 (GRCm39)	E140G	probably damaging	Het
Myo1d	T	C	11: 80,583,770 (GRCm39)	I81V	probably benign	Het
Nek10	T	A	14: 14,821,113 (GRCm38)	Y26*	probably null	Het
Ntng2	C	A	2: 29,117,991 (GRCm39)	E152D	probably damaging	Het
Or10w1	C	A	19: 13,632,145 (GRCm39)	C117*	probably null	Het
Or5m9b	T	C	2: 85,905,510 (GRCm39)	L142P	possibly damaging	Het
Otud3	A	T	4: 138,629,212 (GRCm39)	V185D	probably damaging	Het
Parp6	C	T	9: 59,538,098 (GRCm39)	R248W	probably benign	Het
Pcdhga7	A	G	18: 37,849,483 (GRCm39)	T497A	probably benign	Het
Prl3b1	T	C	13: 27,431,928 (GRCm39)	L151P	probably damaging	Het
Pth1r	C	T	9: 110,551,384 (GRCm39)	E572K	possibly damaging	Het
Ptprq	T	A	10: 107,471,199 (GRCm39)	T1401S	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,517 (GRCm39)	T480A	possibly damaging	Het
Rax	T	A	18: 66,068,232 (GRCm39)	Q291L	unknown	Het
Reck	T	C	4: 43,937,450 (GRCm39)	L734P	probably damaging	Het
Rgmb	A	G	17: 16,041,081 (GRCm39)	F169L	probably damaging	Het
Rhobtb3	T	C	13: 76,041,029 (GRCm39)	I426M	probably damaging	Het
Ring1	C	A	17: 34,242,280 (GRCm39)	A76S	probably damaging	Het
Robo3	T	G	9: 37,332,225 (GRCm39)	Y891S	probably damaging	Het
Rpusd2	A	G	2: 118,865,338 (GRCm39)	I12V	probably benign	Het
Rragd	T	C	4: 32,995,985 (GRCm39)	V165A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Homo
Ryr1	G	T	7: 28,815,606 (GRCm39)	Q95K	probably benign	Het
S1pr4	T	A	10: 81,334,716 (GRCm39)	N253Y	possibly damaging	Het
Scn3a	A	C	2: 65,291,679 (GRCm39)	V1689G	probably damaging	Het
Sdhb	A	G	4: 140,700,984 (GRCm39)	N147D	probably damaging	Het
Sdk1	A	T	5: 142,020,181 (GRCm39)	H913L	possibly damaging	Het
Serpina3i	T	A	12: 104,232,791 (GRCm39)	M232K	probably damaging	Het
Sipa1l2	A	T	8: 126,201,610 (GRCm39)	V646E	probably damaging	Het
Slc38a1	A	T	15: 96,476,673 (GRCm39)	I396N	probably benign	Het
Slc6a13	A	T	6: 121,279,753 (GRCm39)	E42D	probably benign	Het
Stard9	G	A	2: 120,544,027 (GRCm39)	V4442M	probably damaging	Het
Sumo3	T	A	10: 77,452,071 (GRCm39)		probably benign	Het
Syngap1	A	G	17: 27,177,104 (GRCm39)	I356V	probably benign	Het
Tcam1	C	T	11: 106,174,880 (GRCm39)	Q112*	probably null	Het
Tdp2	T	A	13: 25,024,378 (GRCm39)	L225*	probably null	Het
Tmprss7	A	G	16: 45,478,485 (GRCm39)	V747A	probably benign	Het
Ugt2b34	T	A	5: 87,054,223 (GRCm39)	Y186F	probably benign	Het
Usp37	G	T	1: 74,514,292 (GRCm39)	S293*	probably null	Het
Vmn1r36	A	G	6: 66,693,230 (GRCm39)	I109T	probably benign	Het
Vsig10l	T	A	7: 43,118,396 (GRCm39)	V798E	probably benign	Het
Zfp36l1	G	T	12: 80,159,596 (GRCm39)	C18*	probably null	Het
Zfp959	T	C	17: 56,204,427 (GRCm39)	Y152H	probably damaging	Het
Zfyve26	A	T	12: 79,296,373 (GRCm39)	C1949S	probably damaging	Het
Zswim9	T	A	7: 12,995,529 (GRCm39)	E209V	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
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'- GGTCCCCTAGTAATGAACTTTCC -3'
(R):5'- ACGAGGGAGCTCTGGTTTTC -3'

Sequencing Primer
(F):5'- AGTAATGAACTTTCCTCCTCTCC -3'
(R):5'- CAAATCTGGAGATCCCATGTGTAC -3'

Posted On

2018-02-28