Mutagenetix > Incidental Mutation

Incidental Mutation 'R5388:Ppp1r7'

425384

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r7

Ensembl Gene

ENSMUSG00000026275

Gene Name

protein phosphatase 1, regulatory subunit 7

Synonyms

SDS22, 2310014J01Rik

MMRRC Submission

042960-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R5388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93271350-93295344 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93280312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 127 (F127L)

Ref Sequence

ENSEMBL: ENSMUSP00000140544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027494] [ENSMUST00000185498]

AlphaFold

Q3UM45

Predicted Effect

probably damaging
Transcript: ENSMUST00000027494
AA Change: F171L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027494
Gene: ENSMUSG00000026275
AA Change: F171L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127141

SMART Domains

Protein: ENSMUSP00000124279
Gene: ENSMUSG00000026275

Domain	Start	End	E-Value	Type
low complexity region	1	24	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184286

Predicted Effect

probably damaging
Transcript: ENSMUST00000185498
AA Change: F127L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140544
Gene: ENSMUSG00000026275
AA Change: F127L

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
LRR	54	75	5.6e-8	SMART
LRR	76	97	1.9e-8	SMART
LRR	98	119	2.6e-6	SMART
LRR	120	141	4.1e-6	SMART

Meta Mutation Damage Score

0.3951

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (57/58)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,139,969 (GRCm39)		probably null	Het
Acap2	C	A	16: 30,928,543 (GRCm39)	C475F	probably damaging	Het
Ace	C	A	11: 105,879,284 (GRCm39)	P603Q	possibly damaging	Het
Adamts20	C	G	15: 94,243,659 (GRCm39)	V657L	possibly damaging	Het
Antxr2	A	G	5: 98,125,458 (GRCm39)		probably null	Het
Atp6v1b2	G	A	8: 69,554,089 (GRCm39)	V89I	probably benign	Het
Cacna1e	G	A	1: 154,353,542 (GRCm39)	P676L	probably damaging	Het
Camsap3	A	T	8: 3,654,276 (GRCm39)	I649F	probably damaging	Het
Camta1	G	T	4: 151,159,695 (GRCm39)	S490R	probably damaging	Het
Celsr1	A	G	15: 85,809,719 (GRCm39)	I2221T	probably damaging	Het
Cfd	A	T	10: 79,727,959 (GRCm39)	D164V	probably damaging	Het
Cfdp1	T	C	8: 112,495,384 (GRCm39)	D278G	probably damaging	Het
Cntn6	A	T	6: 104,809,523 (GRCm39)	L519F	probably damaging	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Cybrd1	T	C	2: 70,967,989 (GRCm39)		probably null	Het
Cyp2e1	T	C	7: 140,343,906 (GRCm39)	L48P	probably damaging	Het
Eddm13	T	C	7: 6,269,346 (GRCm39)		probably null	Het
Ep400	G	A	5: 110,849,594 (GRCm39)	T1409I	unknown	Het
Exosc7	A	T	9: 122,947,972 (GRCm39)	D47V	probably damaging	Het
Fgr	T	C	4: 132,722,342 (GRCm39)	F204L	probably damaging	Het
Gm10100	G	A	10: 77,562,560 (GRCm39)	V81M	probably benign	Het
Gm12367	T	C	4: 35,235,690 (GRCm39)		noncoding transcript	Het
Grxcr1	C	A	5: 68,323,538 (GRCm39)	T272K	probably damaging	Het
Kcna5	C	T	6: 126,511,859 (GRCm39)	D90N	probably benign	Het
Kdm5b	T	A	1: 134,536,635 (GRCm39)	Y618*	probably null	Het
Lama5	T	A	2: 179,832,539 (GRCm39)	H1670L	possibly damaging	Het
Mtus2	C	T	5: 148,243,518 (GRCm39)	Q113*	probably null	Het
Ncam1	A	C	9: 49,456,054 (GRCm39)	D521E	probably benign	Het
Nkapl	T	C	13: 21,651,740 (GRCm39)	H291R	possibly damaging	Het
Nlrp1b	T	G	11: 71,062,967 (GRCm39)	N695H	probably damaging	Het
Npc1l1	T	A	11: 6,164,733 (GRCm39)	Q1105H	probably damaging	Het
Paxip1	C	G	5: 27,986,453 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,583,695 (GRCm39)	W136R	probably damaging	Het
Pira1	T	C	7: 3,741,856 (GRCm39)	T175A	possibly damaging	Het
Pkn3	T	A	2: 29,971,086 (GRCm39)	S222T	probably damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppfibp1	T	A	6: 146,898,338 (GRCm39)	I98N	probably damaging	Het
Ppfibp1	T	G	6: 146,917,828 (GRCm39)	S484A	probably damaging	Het
Pramel1	T	C	4: 143,123,954 (GRCm39)	Y210H	probably benign	Het
Rad21l	C	T	2: 151,495,403 (GRCm39)	V427I	probably benign	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 138,680,599 (GRCm39)		probably benign	Het
Rnf225	A	G	7: 12,661,932 (GRCm39)	D37G	probably damaging	Het
Smpd2	A	G	10: 41,363,967 (GRCm39)		probably null	Het
Spata31h1	T	C	10: 82,119,561 (GRCm39)	Q4483R	probably damaging	Het
Tmem38b	C	T	4: 53,859,945 (GRCm39)	R242W	probably benign	Het
Topaz1	A	T	9: 122,603,158 (GRCm39)	K1035I	possibly damaging	Het
Trhr	T	C	15: 44,060,873 (GRCm39)	I131T	possibly damaging	Het
Usp1	A	G	4: 98,819,294 (GRCm39)	D252G	probably benign	Het
Usp14	C	T	18: 10,018,023 (GRCm39)	E90K	probably damaging	Het
Yme1l1	T	G	2: 23,052,569 (GRCm39)	D74E	probably benign	Het
Ythdc2	T	A	18: 44,990,092 (GRCm39)	L732Q	possibly damaging	Het
Zbbx	G	T	3: 74,990,977 (GRCm39)	A289D	probably damaging	Het
Zfhx3	G	A	8: 109,673,446 (GRCm39)	V1499I	possibly damaging	Het
Zfp622	T	C	15: 25,996,285 (GRCm39)	V184A	possibly damaging	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
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
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'- ATCTCCAGTGTGAGCCAGTC -3'
(R):5'- AACTCAGCTAAGTACATACCCTATG -3'

Sequencing Primer
(F):5'- TGGTCAGAACCCACTTCCTAG -3'
(R):5'- TATGTGTACCACTGAAGATCCACAG -3'

Posted On

2016-08-04