Mutagenetix > Incidental Mutation

Incidental Mutation 'R0787:Ppp1r7'

76883

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r7

Ensembl Gene

ENSMUSG00000026275

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 7

Synonyms

2310014J01Rik, SDS22

MMRRC Submission

038967-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R0787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93342854-93373489 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93364956 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 326 (T326A)

Ref Sequence

ENSEMBL: ENSMUSP00000027494 (fasta)

Gene Model

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

AlphaFold

Q3UM45

Predicted Effect

probably damaging
Transcript: ENSMUST00000027494
AA Change: T326A

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

SMART Domains

Protein: ENSMUSP00000027494
Gene: ENSMUSG00000026275
AA Change: T326A

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

noncoding transcript
Transcript: ENSMUST00000082455

Meta Mutation Damage Score

0.2209

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (56/56)

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
1700001F09Rik	A	T	14: 43,345,493 (GRCm38)		probably null	Het
Abca8a	T	A	11: 110,042,988 (GRCm38)	Y1197F	possibly damaging	Het
Abcc2	T	C	19: 43,798,516 (GRCm38)		probably null	Het
Adamts16	A	T	13: 70,738,829 (GRCm38)	C979S	probably damaging	Het
Agap2	T	A	10: 127,085,150 (GRCm38)	D523E	unknown	Het
Ankfy1	T	A	11: 72,760,296 (GRCm38)	I1024N	probably damaging	Het
Ankrd13c	A	G	3: 157,994,678 (GRCm38)	S379G	probably null	Het
Arhgap40	T	C	2: 158,547,790 (GRCm38)	S625P	probably benign	Het
Armc12	G	C	17: 28,538,766 (GRCm38)	A291P	probably damaging	Het
Armc9	A	G	1: 86,202,505 (GRCm38)	N524D	probably damaging	Het
Col12a1	G	T	9: 79,638,485 (GRCm38)	T2305K	probably damaging	Het
Cyp2c54	T	C	19: 40,047,635 (GRCm38)	N277S	probably benign	Het
Czib	T	A	4: 107,890,129 (GRCm38)	L6Q	probably damaging	Het
E130311K13Rik	A	T	3: 63,920,298 (GRCm38)	V129E	probably benign	Het
Ehbp1l1	T	C	19: 5,722,668 (GRCm38)	D79G	possibly damaging	Het
Epb41l1	A	G	2: 156,494,090 (GRCm38)	E58G	probably damaging	Het
Fam217b	T	A	2: 178,420,909 (GRCm38)	V222E	probably benign	Het
Fat1	T	A	8: 45,040,555 (GRCm38)	Y3913N	probably damaging	Het
Fgd4	A	G	16: 16,423,901 (GRCm38)		probably benign	Het
Hltf	A	T	3: 20,106,446 (GRCm38)	D759V	probably damaging	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,569,499 (GRCm38)		probably benign	Het
Isg15	C	T	4: 156,199,939 (GRCm38)	R44H	probably benign	Het
Itga4	C	T	2: 79,279,153 (GRCm38)	T232I	probably benign	Het
Kntc1	C	A	5: 123,796,104 (GRCm38)	H1399Q	probably benign	Het
Lig1	A	C	7: 13,299,069 (GRCm38)	K499Q	probably benign	Het
Lrrn3	C	A	12: 41,454,231 (GRCm38)	C29F	probably damaging	Het
Mtmr10	T	C	7: 64,300,615 (GRCm38)	I136T	possibly damaging	Het
Naip1	A	G	13: 100,426,096 (GRCm38)	Y854H	probably benign	Het
Or6c201	T	C	10: 129,133,526 (GRCm38)	N81D	possibly damaging	Het
Pcdh9	G	A	14: 93,886,757 (GRCm38)	A659V	possibly damaging	Het
Phf20l1	T	A	15: 66,615,630 (GRCm38)		probably benign	Het
Phgdh	A	G	3: 98,334,549 (GRCm38)	V83A	probably damaging	Het
Pik3r1	A	T	13: 101,690,523 (GRCm38)	M326K	probably benign	Het
Pirb	A	T	7: 3,717,638 (GRCm38)	L287Q	probably benign	Het
Pkd1l2	T	C	8: 117,076,177 (GRCm38)	D235G	possibly damaging	Het
Pkhd1l1	C	A	15: 44,529,264 (GRCm38)	P1665Q	probably damaging	Het
Prr22	A	T	17: 56,771,072 (GRCm38)	Y75F	possibly damaging	Het
Ptov1	A	C	7: 44,865,470 (GRCm38)		probably null	Het
Rasal2	A	G	1: 157,158,696 (GRCm38)	S766P	probably damaging	Het
Shmt1	T	C	11: 60,792,976 (GRCm38)	T337A	probably benign	Het
St5	G	T	7: 109,525,620 (GRCm38)	R1068S	possibly damaging	Het
Tbc1d4	A	T	14: 101,449,209 (GRCm38)	I1168N	probably damaging	Het
Tecpr2	T	C	12: 110,946,343 (GRCm38)	V1126A	probably benign	Het
Tep1	A	T	14: 50,829,230 (GRCm38)	S2304T	possibly damaging	Het
Tiam1	C	A	16: 89,789,561 (GRCm38)	R1446M	probably damaging	Het
Tmem87a	T	C	2: 120,370,484 (GRCm38)	I425V	probably benign	Het
Ubr3	T	C	2: 69,951,421 (GRCm38)		probably benign	Het
Ubxn7	T	A	16: 32,381,763 (GRCm38)		probably benign	Het
Vmn2r13	A	G	5: 109,156,847 (GRCm38)	S573P	probably damaging	Het
Wdfy3	A	T	5: 101,957,388 (GRCm38)	V191E	probably damaging	Het
Zdhhc3	A	T	9: 123,083,623 (GRCm38)	C153*	probably null	Het
Zfp407	A	T	18: 84,209,022 (GRCm38)	V2154D	probably damaging	Het
Zfp407	A	G	18: 84,209,346 (GRCm38)	V2046A	probably benign	Het
Zfr	T	A	15: 12,140,548 (GRCm38)	I227N	unknown	Het

Other mutations in Ppp1r7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Ppp1r7	APN	1	93,346,256 (GRCm38)	missense	probably benign	0.00
IGL01475:Ppp1r7	APN	1	93,360,818 (GRCm38)	splice site	probably benign
R1827:Ppp1r7	UTSW	1	93,360,796 (GRCm38)	missense	probably benign	0.03
R2392:Ppp1r7	UTSW	1	93,354,341 (GRCm38)	missense	probably benign	0.03
R2869:Ppp1r7	UTSW	1	93,357,863 (GRCm38)	critical splice donor site	probably null
R2869:Ppp1r7	UTSW	1	93,357,863 (GRCm38)	critical splice donor site	probably null
R2870:Ppp1r7	UTSW	1	93,357,863 (GRCm38)	critical splice donor site	probably null
R2870:Ppp1r7	UTSW	1	93,357,863 (GRCm38)	critical splice donor site	probably null
R2872:Ppp1r7	UTSW	1	93,357,863 (GRCm38)	critical splice donor site	probably null
R2872:Ppp1r7	UTSW	1	93,357,863 (GRCm38)	critical splice donor site	probably null
R2873:Ppp1r7	UTSW	1	93,357,863 (GRCm38)	critical splice donor site	probably null
R5299:Ppp1r7	UTSW	1	93,352,626 (GRCm38)	missense	probably benign
R5388:Ppp1r7	UTSW	1	93,352,590 (GRCm38)	missense	probably damaging	0.99
R7528:Ppp1r7	UTSW	1	93,354,401 (GRCm38)	nonsense	probably null
R7856:Ppp1r7	UTSW	1	93,350,346 (GRCm38)	missense	possibly damaging	0.68
R7935:Ppp1r7	UTSW	1	93,346,182 (GRCm38)	missense	probably damaging	1.00
R8204:Ppp1r7	UTSW	1	93,365,011 (GRCm38)	missense	possibly damaging	0.50
R8341:Ppp1r7	UTSW	1	93,346,278 (GRCm38)	missense	probably benign
R8678:Ppp1r7	UTSW	1	93,352,642 (GRCm38)	missense	probably benign	0.22
R8772:Ppp1r7	UTSW	1	93,354,428 (GRCm38)	missense	probably benign	0.04
R8946:Ppp1r7	UTSW	1	93,360,814 (GRCm38)	critical splice donor site	probably null
R9123:Ppp1r7	UTSW	1	93,357,775 (GRCm38)	missense	probably benign	0.27
R9367:Ppp1r7	UTSW	1	93,351,540 (GRCm38)	missense	probably damaging	1.00
RF007:Ppp1r7	UTSW	1	93,346,289 (GRCm38)	critical splice donor site	probably null
Z1088:Ppp1r7	UTSW	1	93,352,588 (GRCm38)	missense	probably damaging	1.00
Z1176:Ppp1r7	UTSW	1	93,354,354 (GRCm38)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- TGACTCCAGTTAGTGTAGGAGCAGG -3'
(R):5'- ATGGTGTGTAGCATCACAGGCCAG -3'

Sequencing Primer
(F):5'- TCACTGTGCTGCTAAAAGGC -3'
(R):5'- ACTGTTGGTATAGTGACGACATC -3'

Posted On

2013-10-16