Mutagenetix > Incidental Mutation

Incidental Mutation 'R7935:Ppp1r7'

648652

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r7

Ensembl Gene

ENSMUSG00000026275

Gene Name

protein phosphatase 1, regulatory subunit 7

Synonyms

SDS22, 2310014J01Rik

MMRRC Submission

045981-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R7935 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93271350-93295344 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93273904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 27 (S27P)

Ref Sequence

ENSEMBL: ENSMUSP00000027494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027493] [ENSMUST00000027494] [ENSMUST00000128253] [ENSMUST00000185498]

AlphaFold

Q3UM45

Predicted Effect

probably benign
Transcript: ENSMUST00000027493

SMART Domains

Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274

Domain	Start	End	E-Value	Type
PAS	119	186	3.87e-8	SMART
PAS	333	400	3.08e-2	SMART
low complexity region	907	918	N/A	INTRINSIC
low complexity region	1043	1054	N/A	INTRINSIC
S_TKc	1059	1311	8.16e-79	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000027494
AA Change: S27P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027494
Gene: ENSMUSG00000026275
AA Change: S27P

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

SMART Domains

Protein: ENSMUSP00000124279
Gene: ENSMUSG00000026275
AA Change: S11P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128253

Predicted Effect

probably benign
Transcript: ENSMUST00000185498

SMART Domains

Protein: ENSMUSP00000140544
Gene: ENSMUSG00000026275

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,308,732 (GRCm39)	V124A	probably benign	Het
Abca4	A	G	3: 121,904,186 (GRCm39)	M746V	possibly damaging	Het
Aldh18a1	G	T	19: 40,562,226 (GRCm39)	S266*	probably null	Het
Aldh1b1	C	A	4: 45,802,968 (GRCm39)	H169N	probably benign	Het
Anpep	A	G	7: 79,476,709 (GRCm39)	I756T	possibly damaging	Het
Asb16	A	T	11: 102,168,739 (GRCm39)	E405V	probably benign	Het
B4galnt1	T	A	10: 127,007,490 (GRCm39)	F464I	probably damaging	Het
Bpifb5	A	G	2: 154,070,975 (GRCm39)	I225V	probably benign	Het
Brox	T	C	1: 183,062,484 (GRCm39)	E290G	probably damaging	Het
Cacna1s	T	A	1: 136,020,333 (GRCm39)	V790D	possibly damaging	Het
Cacng6	G	T	7: 3,473,384 (GRCm39)	K69N	possibly damaging	Het
Catsperg1	A	G	7: 28,895,344 (GRCm39)	I503T	possibly damaging	Het
Cdcp3	A	G	7: 130,852,205 (GRCm39)	N814D	probably damaging	Het
Celsr3	A	C	9: 108,706,840 (GRCm39)	M1108L	probably benign	Het
Chd2	T	C	7: 73,149,373 (GRCm39)	N449S	probably benign	Het
Cpne6	T	C	14: 55,750,066 (GRCm39)	C66R	possibly damaging	Het
Ctnna2	T	C	6: 76,919,270 (GRCm39)	E656G	probably damaging	Het
Dnah17	A	T	11: 118,018,048 (GRCm39)	M149K	probably benign	Het
Dpp8	A	T	9: 64,944,262 (GRCm39)	M10L	possibly damaging	Het
Dst	T	C	1: 34,329,486 (GRCm39)	L4838P	probably damaging	Het
Eif4g3	T	A	4: 137,824,082 (GRCm39)	I55N	probably damaging	Het
Gm10750	A	G	2: 148,858,017 (GRCm39)	L78P	unknown	Het
Gulo	T	G	14: 66,237,288 (GRCm39)	K200Q	probably benign	Het
Jmjd8	T	A	17: 26,048,071 (GRCm39)	L56Q	probably benign	Het
Kansl1	G	T	11: 104,315,112 (GRCm39)	Q309K	probably damaging	Het
Kcns3	A	C	12: 11,141,718 (GRCm39)	L327R	probably damaging	Het
Mapk10	A	G	5: 103,139,792 (GRCm39)	I153T	possibly damaging	Het
Muc5b	G	T	7: 141,400,569 (GRCm39)	M513I	unknown	Het
Nbea	A	G	3: 55,966,086 (GRCm39)	F459L	probably damaging	Het
Nrcam	G	A	12: 44,631,644 (GRCm39)	V1066I	possibly damaging	Het
Numa1	A	G	7: 101,651,538 (GRCm39)	K178E	probably damaging	Het
Or4b1	C	T	2: 89,979,928 (GRCm39)	V141M	probably benign	Het
Or5au1	T	C	14: 52,272,645 (GRCm39)	K308E	probably benign	Het
Or5d14	G	A	2: 87,880,290 (GRCm39)	T226M	probably damaging	Het
Pabpc4	C	T	4: 123,191,837 (GRCm39)	A649V	probably benign	Het
Parp12	C	A	6: 39,079,612 (GRCm39)	K299N	possibly damaging	Het
Pcdhga7	A	G	18: 37,849,562 (GRCm39)	D523G	possibly damaging	Het
Polr2a	T	C	11: 69,638,330 (GRCm39)	T79A	probably benign	Het
Pramel42	G	T	5: 94,685,440 (GRCm39)	D367Y	probably damaging	Het
Prol1	T	G	5: 88,475,874 (GRCm39)	L88R	probably damaging	Het
Ptpn6	T	C	6: 124,709,425 (GRCm39)	Q57R	possibly damaging	Het
Rdh16	A	G	10: 127,637,334 (GRCm39)	I90V	probably benign	Het
Rock2	T	A	12: 16,998,558 (GRCm39)	C275S	probably damaging	Het
Rp1l1	G	T	14: 64,268,674 (GRCm39)	R1420L	probably damaging	Het
Sav1	A	G	12: 70,033,481 (GRCm39)	Y21H	probably damaging	Het
Sec24a	T	C	11: 51,612,749 (GRCm39)	N536S	probably benign	Het
Serpina9	A	C	12: 103,964,421 (GRCm39)	F339V	probably damaging	Het
Slc6a13	T	G	6: 121,311,450 (GRCm39)	L369V	possibly damaging	Het
Smarcd3	A	T	5: 24,801,024 (GRCm39)	F128I	probably damaging	Het
Smok2a	A	T	17: 13,444,599 (GRCm39)	I59F	probably damaging	Het
Spaca9	A	G	2: 28,583,634 (GRCm39)		probably null	Het
Ssx2ip	A	T	3: 146,124,928 (GRCm39)	E84D	probably benign	Het
Syt12	A	T	19: 4,497,830 (GRCm39)	V384E	probably benign	Het
Ticrr	T	A	7: 79,331,584 (GRCm39)	L727Q	probably damaging	Het
Tmem170b	A	G	13: 41,781,463 (GRCm39)	Y36C	probably damaging	Het
Tpd52l1	T	C	10: 31,214,201 (GRCm39)	T161A	probably damaging	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zfp512b	T	C	2: 181,231,689 (GRCm39)	T164A	probably damaging	Het
Zfp521	G	A	18: 13,977,549 (GRCm39)	P955S	probably damaging	Het
Zfp770	C	T	2: 114,027,305 (GRCm39)	V255I	probably benign	Het
Zfp942	A	T	17: 22,148,208 (GRCm39)	C140*	probably null	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
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
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'- AATTGTCTCCATGTGGCCTC -3'
(R):5'- GCAAAGAAGCAGCAGTCTTC -3'

Sequencing Primer
(F):5'- ATGTGGCCTCCCAGTTACTG -3'
(R):5'- GCAGTCTTCAACAACACACTTG -3'

Posted On

2020-09-15