Mutagenetix > Incidental Mutation

Incidental Mutation 'R8039:Ppp1r11'

618446

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r11

Ensembl Gene

ENSMUSG00000036398

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 11

Synonyms

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

MMRRC Submission

067476-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R8039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36948356-36951741 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36951446 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 21 (T21A)

Ref Sequence

ENSEMBL: ENSMUSP00000047202 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040402
AA Change: T21A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047202
Gene: ENSMUSG00000036398
AA Change: T21A

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: ENSMUST00000173540

SMART Domains

Protein: ENSMUSP00000134322
Gene: ENSMUSG00000036398

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 benign
Transcript: ENSMUST00000174669

SMART Domains

Protein: ENSMUSP00000134113
Gene: ENSMUSG00000036492

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174711
AA Change: T21A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134685
Gene: ENSMUSG00000036398
AA Change: T21A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 36,943,214 (GRCm38)	V1140E	probably benign	Het
Abca17	T	C	17: 24,328,725 (GRCm38)	H225R	probably damaging	Het
Adgrb2	T	A	4: 130,022,268 (GRCm38)	L1451Q	probably damaging	Het
Afdn	T	C	17: 13,899,141 (GRCm38)	L1713P	probably damaging	Het
Agr2	A	T	12: 35,995,559 (GRCm38)	I15F	probably benign	Het
Agrn	T	C	4: 156,169,011 (GRCm38)	T1808A	probably benign	Het
Akap6	A	G	12: 53,141,676 (GRCm38)	I1958V	probably benign	Het
Ankrd60	C	A	2: 173,572,491 (GRCm38)		probably null	Het
Anpep	A	G	7: 79,839,400 (GRCm38)		probably null	Het
Apoa4	A	T	9: 46,242,293 (GRCm38)	D64V	possibly damaging	Het
Arhgef26	C	A	3: 62,339,930 (GRCm38)	T145N	probably benign	Het
Art1	A	T	7: 102,106,845 (GRCm38)	Q81L	probably benign	Het
Astl	A	T	2: 127,343,983 (GRCm38)	S71C	probably damaging	Het
Atp2a1	A	G	7: 126,448,805 (GRCm38)	I611T	probably damaging	Het
Cacna2d2	T	A	9: 107,527,433 (GRCm38)	V1139D	possibly damaging	Het
Chst10	T	A	1: 38,866,031 (GRCm38)	K198*	probably null	Het
Ckmt2	G	A	13: 91,863,312 (GRCm38)	H60Y	possibly damaging	Het
Coq7	G	C	7: 118,533,246 (GRCm38)	S2R	possibly damaging	Het
Cspp1	T	A	1: 10,113,013 (GRCm38)	D814E	probably benign	Het
Cyp2c54	CCTCTTTCATAGCTCT	CCTCT	19: 40,073,732 (GRCm38)		probably null	Het
Daam2	C	A	17: 49,464,538 (GRCm38)	G860V	probably damaging	Het
Ecm2	A	T	13: 49,514,850 (GRCm38)	I10F	probably benign	Het
Epb41l1	A	T	2: 156,506,412 (GRCm38)	D312V	probably damaging	Het
Epsti1	G	A	14: 77,931,301 (GRCm38)	R126H	probably damaging	Het
Erc1	A	T	6: 119,773,665 (GRCm38)	Y367*	probably null	Het
Erh	T	A	12: 80,637,578 (GRCm38)	R42W	probably damaging	Het
Fam124a	C	T	14: 62,605,876 (GRCm38)	Q278*	probably null	Het
Fam155a	T	C	8: 9,207,892 (GRCm38)	T419A	probably benign	Het
Fbxo3	T	A	2: 104,054,941 (GRCm38)	L385Q	probably damaging	Het
Fbxo31	T	A	8: 121,559,055 (GRCm38)	T219S	probably damaging	Het
Fstl5	T	G	3: 76,648,418 (GRCm38)	V534G	possibly damaging	Het
Gatsl3	G	T	11: 4,221,639 (GRCm38)	A288S	probably damaging	Het
Gbp2b	A	T	3: 142,618,164 (GRCm38)	I577F	probably benign	Het
Gbp8	A	T	5: 105,050,917 (GRCm38)	L44*	probably null	Het
Gck	C	T	11: 5,910,301 (GRCm38)	A114T	probably benign	Het
Gm16486	T	C	8: 70,710,906 (GRCm38)	V916A	probably benign	Het
Gtf2i	A	G	5: 134,255,834 (GRCm38)	V537A	possibly damaging	Het
Iqcm	C	A	8: 75,763,105 (GRCm38)	H400Q	probably damaging	Het
Itpr1	T	C	6: 108,386,628 (GRCm38)	L737P	probably damaging	Het
Jakmip1	A	G	5: 37,100,772 (GRCm38)	E254G	probably damaging	Het
Kif15	A	T	9: 123,007,425 (GRCm38)	R1095W	possibly damaging	Het
Klhdc8a	G	A	1: 132,303,108 (GRCm38)	R237Q	probably benign	Het
Klhl38	T	C	15: 58,322,862 (GRCm38)	E157G	probably benign	Het
Klrk1	T	A	6: 129,612,823 (GRCm38)	N221I	probably benign	Het
Lhx8	A	T	3: 154,306,939 (GRCm38)	H345Q	probably damaging	Het
Lims1	T	A	10: 58,409,672 (GRCm38)	N174K	probably benign	Het
Madd	T	A	2: 91,167,061 (GRCm38)	Q754L	probably benign	Het
Mau2	T	C	8: 70,019,790 (GRCm38)	D581G	probably damaging	Het
Miga1	A	T	3: 152,276,756 (GRCm38)	I561N	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mob3c	T	C	4: 115,831,687 (GRCm38)	V139A	probably benign	Het
Nadk	G	T	4: 155,577,067 (GRCm38)	D17Y	probably benign	Het
Ncapd2	C	T	6: 125,181,026 (GRCm38)	V380I	probably damaging	Het
Nes	G	A	3: 87,977,008 (GRCm38)	R858K	probably benign	Het
Nphp3	T	C	9: 104,031,963 (GRCm38)	S791P	probably benign	Het
Nup210	T	C	6: 91,070,233 (GRCm38)	T496A	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266 (GRCm38)		probably benign	Het
Olfr1186	C	T	2: 88,525,871 (GRCm38)	T96I	probably benign	Het
Olfr220	T	A	1: 174,449,596 (GRCm38)	S324R	unknown	Het
Olfr914	T	A	9: 38,607,389 (GRCm38)	M308K	probably benign	Het
Ovgp1	T	A	3: 105,976,023 (GRCm38)	S105T	probably benign	Het
Pbld2	T	A	10: 63,047,992 (GRCm38)	C79S	probably damaging	Het
Pik3cd	T	A	4: 149,659,866 (GRCm38)	M143L	possibly damaging	Het
Plat	G	T	8: 22,772,232 (GRCm38)	G91W	probably damaging	Het
Poln	A	G	5: 34,122,672 (GRCm38)	V282A	probably benign	Het
Prpf8	T	A	11: 75,502,542 (GRCm38)	I1664N	possibly damaging	Het
Prr29	C	T	11: 106,376,912 (GRCm38)	A161V	probably benign	Het
Rasa3	T	C	8: 13,588,931 (GRCm38)	D292G	probably damaging	Het
Rnf25	T	C	1: 74,593,964 (GRCm38)	T411A	probably damaging	Het
Rraga	C	T	4: 86,575,980 (GRCm38)	T21I	probably damaging	Het
Setdb2	T	A	14: 59,402,375 (GRCm38)	Y673F	probably damaging	Het
Sf3a1	C	T	11: 4,167,787 (GRCm38)	T183I	probably damaging	Het
Shank3	A	T	15: 89,505,439 (GRCm38)	H413L	probably damaging	Het
Slc30a5	A	G	13: 100,813,681 (GRCm38)		probably null	Het
Slc6a18	T	C	13: 73,665,626 (GRCm38)	S523G	probably benign	Het
Spaca1	C	T	4: 34,044,207 (GRCm38)	V96I	probably damaging	Het
Sycp2	C	T	2: 178,374,585 (GRCm38)	A695T	probably benign	Het
Tnrc18	C	A	5: 142,732,052 (GRCm38)	G2216C	unknown	Het
Trak2	T	C	1: 58,946,288 (GRCm38)	N17S	probably benign	Het
Ttn	T	A	2: 76,878,432 (GRCm38)	N8792I	unknown	Het
Ttyh1	T	C	7: 4,122,541 (GRCm38)	V64A	probably benign	Het
Usb1	T	A	8: 95,333,413 (GRCm38)	S50R	probably damaging	Het
Ush2a	T	A	1: 188,957,373 (GRCm38)	I5044N	probably damaging	Het
Vmn1r84	A	T	7: 12,362,008 (GRCm38)	F253I	possibly damaging	Het
Vmn2r99	T	C	17: 19,380,040 (GRCm38)	I442T	probably benign	Het
Vsig1	C	T	X: 140,933,126 (GRCm38)	H232Y	probably benign	Het

Other mutations in Ppp1r11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02584:Ppp1r11	APN	17	36,949,889 (GRCm38)	missense	probably damaging	1.00
R5613:Ppp1r11	UTSW	17	36,951,488 (GRCm38)	missense	probably damaging	1.00
R7327:Ppp1r11	UTSW	17	36,951,008 (GRCm38)	missense	possibly damaging	0.82
R8353:Ppp1r11	UTSW	17	36,949,974 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACTACGGATTAAACAATCCTTGACC -3'
(R):5'- AAGAAGCTAGAGCATCCTGGC -3'

Sequencing Primer
(F):5'- ACTTGAACCATTTGAGCGGC -3'
(R):5'- AGAGCATCCTGGCCTCTAC -3'

Posted On

2020-01-23