Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02584:Ppp1r11'

299468

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp1r11

Ensembl Gene

ENSMUSG00000036398

Gene Name

protein phosphatase 1, regulatory inhibitor subunit 11

Synonyms

HCGV, Tctex5, Tcte5, 1500041B02Rik, Tctex-5, HCG-V

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

IGL02584

Quality Score

Status

Chromosome

Chromosomal Location

37259248-37262633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37260781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 61 (R61C)

Ref Sequence

ENSEMBL: ENSMUSP00000134685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040402] [ENSMUST00000040498] [ENSMUST00000113669] [ENSMUST00000172518] [ENSMUST00000172823] [ENSMUST00000173072] [ENSMUST00000173540] [ENSMUST00000174711] [ENSMUST00000174669]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040402
AA Change: R61C

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

SMART Domains

Protein: ENSMUSP00000047202
Gene: ENSMUSG00000036398
AA Change: R61C

Domain	Start	End	E-Value	Type
Pfam:PPI_Ypi1	22	87	8.7e-26	PFAM
low complexity region	105	128	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040498

SMART Domains

Protein: ENSMUSP00000037860
Gene: ENSMUSG00000036492

Domain	Start	End	E-Value	Type
RING	20	66	3.47e-4	SMART
low complexity region	99	109	N/A	INTRINSIC
PRY	159	212	6.23e-15	SMART
Blast:SPRY	213	349	1e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000113669

SMART Domains

Protein: ENSMUSP00000109299
Gene: ENSMUSG00000036315

Domain	Start	End	E-Value	Type
ZnF_C2C2	82	121	1.68e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172518

SMART Domains

Protein: ENSMUSP00000133651
Gene: ENSMUSG00000036315

Domain	Start	End	E-Value	Type
ZnF_C2C2	82	121	1.68e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172823

SMART Domains

Protein: ENSMUSP00000133644
Gene: ENSMUSG00000036315

Domain	Start	End	E-Value	Type
ZnF_C2C2	59	98	1.68e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173072

SMART Domains

Protein: ENSMUSP00000133710
Gene: ENSMUSG00000036492

Domain	Start	End	E-Value	Type
RING	20	66	3.47e-4	SMART
low complexity region	99	109	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000173540
AA Change: R50C

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

SMART Domains

Protein: ENSMUSP00000134322
Gene: ENSMUSG00000036398
AA Change: R50C

Domain	Start	End	E-Value	Type
Pfam:PPI_Ypi1	5	77	2e-24	PFAM
low complexity region	94	117	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174711
AA Change: R61C

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

SMART Domains

Protein: ENSMUSP00000134685
Gene: ENSMUSG00000036398
AA Change: R61C

Domain	Start	End	E-Value	Type
Pfam:PPI_Ypi1	22	87	8.7e-26	PFAM
low complexity region	105	128	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174466

Predicted Effect

probably benign
Transcript: ENSMUST00000174669

SMART Domains

Protein: ENSMUSP00000134113
Gene: ENSMUSG00000036492

Domain	Start	End	E-Value	Type
PRY	37	90	6.23e-15	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	T	16: 88,971,744 (GRCm39)	Y22F	unknown	Het
Adgrb3	A	G	1: 25,544,065 (GRCm39)	L312P	probably damaging	Het
Anpep	T	C	7: 79,475,141 (GRCm39)		probably benign	Het
Arhgef6	T	G	X: 56,291,738 (GRCm39)		probably benign	Het
Catsperg1	T	C	7: 28,884,146 (GRCm39)	D989G	probably damaging	Het
Ccnj	T	A	19: 40,833,185 (GRCm39)	V121E	probably benign	Het
Cdyl	T	C	13: 35,867,769 (GRCm39)	L15P	probably benign	Het
Cnrip1	T	A	11: 17,028,536 (GRCm39)	M156K	probably damaging	Het
Cryga	T	A	1: 65,142,175 (GRCm39)	S73C	probably benign	Het
Dennd4a	A	G	9: 64,758,580 (GRCm39)	T240A	probably damaging	Het
Eml6	A	G	11: 29,699,387 (GRCm39)	S1789P	probably damaging	Het
Esr2	A	T	12: 76,192,036 (GRCm39)	W331R	probably damaging	Het
Fbh1	A	T	2: 11,764,769 (GRCm39)	L455H	probably benign	Het
Gm21698	T	A	5: 26,192,391 (GRCm39)	E65V	probably damaging	Het
Grm8	G	T	6: 27,762,438 (GRCm39)	F262L	probably benign	Het
Haus3	A	T	5: 34,323,602 (GRCm39)	L336*	probably null	Het
Hfm1	A	C	5: 107,026,528 (GRCm39)		probably null	Het
Hgfac	T	C	5: 35,201,305 (GRCm39)		probably benign	Het
Ighv1-22	T	C	12: 114,709,942 (GRCm39)	E101G	probably benign	Het
Impg2	A	G	16: 56,085,374 (GRCm39)	E1027G	probably damaging	Het
Lypd5	A	T	7: 24,052,993 (GRCm39)	T217S	possibly damaging	Het
Myrf	A	G	19: 10,189,587 (GRCm39)		probably benign	Het
Mzf1	A	G	7: 12,786,744 (GRCm39)	W109R	probably damaging	Het
Ndufb4	A	T	16: 37,469,532 (GRCm39)		probably benign	Het
Ntn1	A	G	11: 68,168,356 (GRCm39)	V367A	probably damaging	Het
Oprk1	A	G	1: 5,668,827 (GRCm39)	K91R	probably damaging	Het
Or5m11b	C	T	2: 85,806,219 (GRCm39)	L211F	probably damaging	Het
Pdlim1	A	G	19: 40,231,844 (GRCm39)		probably null	Het
Racgap1	T	C	15: 99,521,515 (GRCm39)	D547G	probably benign	Het
Sema4b	A	G	7: 79,874,736 (GRCm39)	T709A	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Supt5	T	C	7: 28,025,592 (GRCm39)	H218R	probably benign	Het
Tmem132c	T	A	5: 127,582,063 (GRCm39)	I426N	probably damaging	Het
Tpcn1	T	C	5: 120,677,097 (GRCm39)	N696S	probably damaging	Het
Ttn	T	C	2: 76,566,506 (GRCm39)	N26383S	possibly damaging	Het
Vax2	A	G	6: 83,688,495 (GRCm39)	T73A	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het

Other mutations in Ppp1r11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5613:Ppp1r11	UTSW	17	37,262,380 (GRCm39)	missense	probably damaging	1.00
R7327:Ppp1r11	UTSW	17	37,261,900 (GRCm39)	missense	possibly damaging	0.82
R8039:Ppp1r11	UTSW	17	37,262,338 (GRCm39)	missense	probably damaging	0.97
R8353:Ppp1r11	UTSW	17	37,260,866 (GRCm39)	missense	possibly damaging	0.94

Posted On

2015-04-16