Mutagenetix > Incidental Mutation

Incidental Mutation 'R2869:Ppp1r7'

253389

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r7

Ensembl Gene

ENSMUSG00000026275

Gene Name

protein phosphatase 1, regulatory subunit 7

Synonyms

SDS22, 2310014J01Rik

MMRRC Submission

040457-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R2869 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93271350-93295344 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 93285585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027494]

AlphaFold

Q3UM45

Predicted Effect

probably null
Transcript: ENSMUST00000027494

SMART Domains

Protein: ENSMUSP00000027494
Gene: ENSMUSG00000026275

Domain	Start	End	E-Value	Type
low complexity region	23	39	N/A	INTRINSIC
LRR	98	119	1.32e-5	SMART
LRR	120	141	4.37e-6	SMART
LRR	142	163	6.42e-4	SMART
LRR	164	185	9.73e-4	SMART
LRR	186	207	3.74e-5	SMART
LRR	208	229	4.68e-6	SMART
LRR	230	251	1.04e-3	SMART
LRR	252	273	1.98e-4	SMART
LRR	274	295	2.01e-5	SMART
LRR	296	317	1.45e-2	SMART
LRRcap	337	355	2.67e-4	SMART

Meta Mutation Damage Score

0.9497

Coding Region Coverage

1x: 99.6%
3x: 98.4%
10x: 93.9%
20x: 77.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ccl27a	C	T	4: 41,769,640 (GRCm39)	R73Q	probably benign	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Ch25h	T	A	19: 34,452,210 (GRCm39)	H106L	probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Ggt6	A	T	11: 72,328,187 (GRCm39)	N229I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gsdme	A	T	6: 50,185,157 (GRCm39)	C432*	probably null	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Kcnb1	A	G	2: 166,947,855 (GRCm39)	L331P	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Het
Krt13	A	G	11: 100,008,475 (GRCm39)	S421P	unknown	Het
Lactbl1	G	A	4: 136,354,097 (GRCm39)	C37Y	probably damaging	Het
Lzts2	C	A	19: 45,012,534 (GRCm39)	S321*	probably null	Het
Meikin	T	C	11: 54,264,333 (GRCm39)	V103A	possibly damaging	Het
Mki67	G	A	7: 135,309,878 (GRCm39)	P191L	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nbn	T	A	4: 15,963,810 (GRCm39)	D70E	probably damaging	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nwd2	A	T	5: 63,957,671 (GRCm39)	I334L	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or4k2	T	C	14: 50,423,811 (GRCm39)	T288A	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Psmd13	A	T	7: 140,466,968 (GRCm39)	T116S	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Serinc2	A	G	4: 130,159,005 (GRCm39)	S29P	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
St7	C	T	6: 17,819,276 (GRCm39)	P60L	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tprg1	T	C	16: 25,231,590 (GRCm39)	W189R	probably damaging	Het
Trim32	A	G	4: 65,532,694 (GRCm39)	D417G	probably damaging	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het

Other mutations in Ppp1r7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Ppp1r7	APN	1	93,273,978 (GRCm39)	missense	probably benign	0.00
IGL01475:Ppp1r7	APN	1	93,288,540 (GRCm39)	splice site	probably benign
R0787:Ppp1r7	UTSW	1	93,292,678 (GRCm39)	missense	probably damaging	1.00
R1827:Ppp1r7	UTSW	1	93,288,518 (GRCm39)	missense	probably benign	0.03
R2392:Ppp1r7	UTSW	1	93,282,063 (GRCm39)	missense	probably benign	0.03
R2869:Ppp1r7	UTSW	1	93,285,585 (GRCm39)	critical splice donor site	probably null
R2870:Ppp1r7	UTSW	1	93,285,585 (GRCm39)	critical splice donor site	probably null
R2870:Ppp1r7	UTSW	1	93,285,585 (GRCm39)	critical splice donor site	probably null
R2872:Ppp1r7	UTSW	1	93,285,585 (GRCm39)	critical splice donor site	probably null
R2872:Ppp1r7	UTSW	1	93,285,585 (GRCm39)	critical splice donor site	probably null
R2873:Ppp1r7	UTSW	1	93,285,585 (GRCm39)	critical splice donor site	probably null
R5299:Ppp1r7	UTSW	1	93,280,348 (GRCm39)	missense	probably benign
R5388:Ppp1r7	UTSW	1	93,280,312 (GRCm39)	missense	probably damaging	0.99
R7528:Ppp1r7	UTSW	1	93,282,123 (GRCm39)	nonsense	probably null
R7856:Ppp1r7	UTSW	1	93,278,068 (GRCm39)	missense	possibly damaging	0.68
R7935:Ppp1r7	UTSW	1	93,273,904 (GRCm39)	missense	probably damaging	1.00
R8204:Ppp1r7	UTSW	1	93,292,733 (GRCm39)	missense	possibly damaging	0.50
R8341:Ppp1r7	UTSW	1	93,274,000 (GRCm39)	missense	probably benign
R8678:Ppp1r7	UTSW	1	93,280,364 (GRCm39)	missense	probably benign	0.22
R8772:Ppp1r7	UTSW	1	93,282,150 (GRCm39)	missense	probably benign	0.04
R8946:Ppp1r7	UTSW	1	93,288,536 (GRCm39)	critical splice donor site	probably null
R9123:Ppp1r7	UTSW	1	93,285,497 (GRCm39)	missense	probably benign	0.27
R9367:Ppp1r7	UTSW	1	93,279,262 (GRCm39)	missense	probably damaging	1.00
RF007:Ppp1r7	UTSW	1	93,274,011 (GRCm39)	critical splice donor site	probably null
Z1088:Ppp1r7	UTSW	1	93,280,310 (GRCm39)	missense	probably damaging	1.00
Z1176:Ppp1r7	UTSW	1	93,282,076 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- ACCTTATGTGTTGCTGGCAG -3'
(R):5'- AGCCATGTGACATGTTGGC -3'

Sequencing Primer
(F):5'- CCAGAGCTAACTGATATGGCTTGTC -3'
(R):5'- GGCCCTTTGACTCATTGGGAC -3'

Posted On

2014-12-04