Mutagenetix > Incidental Mutation

Incidental Mutation 'R7528:Ppp1r7'

583106

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r7

Ensembl Gene

ENSMUSG00000026275

Gene Name

protein phosphatase 1, regulatory subunit 7

Synonyms

SDS22, 2310014J01Rik

MMRRC Submission

045600-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R7528 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93271350-93295344 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 93282123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 225 (Q225*)

Ref Sequence

ENSEMBL: ENSMUSP00000027494 (fasta)

Gene Model

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

AlphaFold

Q3UM45

Predicted Effect

probably null
Transcript: ENSMUST00000027494
AA Change: Q225*

SMART Domains

Protein: ENSMUSP00000027494
Gene: ENSMUSG00000026275
AA Change: Q225*

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

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,767,317 (GRCm39)	E920G	probably damaging	Het
Acss2	A	C	2: 155,399,066 (GRCm39)	N443H	probably damaging	Het
Adam3	C	A	8: 25,167,279 (GRCm39)	A71S	unknown	Het
Agpat3	A	G	10: 78,123,746 (GRCm39)	L38P	probably damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Amtn	C	A	5: 88,526,711 (GRCm39)		probably null	Het
App	T	G	16: 84,775,146 (GRCm39)	Y497S	possibly damaging	Het
Bphl	T	A	13: 34,244,473 (GRCm39)	Y197N	probably damaging	Het
Btrc	T	A	19: 45,491,525 (GRCm39)	M160K	possibly damaging	Het
Ccdc181	A	C	1: 164,107,527 (GRCm39)	N70T	probably benign	Het
Cd55b	T	C	1: 130,347,473 (GRCm39)	N113D	possibly damaging	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Dnah2	T	C	11: 69,391,622 (GRCm39)	H691R	probably damaging	Het
Dnajc13	A	G	9: 104,056,164 (GRCm39)	V1579A	possibly damaging	Het
Dst	T	A	1: 34,333,603 (GRCm39)	F5030I	probably damaging	Het
Eppk1	G	A	15: 76,004,308 (GRCm39)		probably benign	Het
Fbxw4	T	C	19: 45,648,449 (GRCm39)	E7G	unknown	Het
Fos	T	A	12: 85,522,432 (GRCm39)	C154S	probably damaging	Het
Foxh1	A	G	15: 76,553,511 (GRCm39)	V97A	probably benign	Het
Gmeb1	G	A	4: 131,959,361 (GRCm39)	T231I	possibly damaging	Het
Golga3	T	A	5: 110,360,098 (GRCm39)	V1112E	probably damaging	Het
Gprin3	T	C	6: 59,331,017 (GRCm39)	D430G	possibly damaging	Het
Hpse2	T	C	19: 42,801,463 (GRCm39)	D441G	probably damaging	Het
Hydin	G	A	8: 111,107,204 (GRCm39)	W460*	probably null	Het
Ifi204	T	C	1: 173,579,406 (GRCm39)	I480V	probably benign	Het
Impg2	T	C	16: 56,080,743 (GRCm39)	V849A	possibly damaging	Het
Kars1	T	C	8: 112,737,866 (GRCm39)	D12G	probably benign	Het
Klhdc7a	A	T	4: 139,694,828 (GRCm39)	Y40N	probably damaging	Het
Krtap5-3	T	C	7: 141,755,219 (GRCm39)	C19R	unknown	Het
Macf1	G	A	4: 123,325,852 (GRCm39)	A5217V	possibly damaging	Het
Mlc1	A	T	15: 88,858,710 (GRCm39)	I146N	possibly damaging	Het
Myo3a	A	T	2: 22,270,925 (GRCm39)	R129*	probably null	Het
Nsun4	G	T	4: 115,891,391 (GRCm39)	Y329*	probably null	Het
Or4k1	A	G	14: 50,377,277 (GRCm39)	V273A	possibly damaging	Het
Or56a3b	T	C	7: 104,771,071 (GRCm39)	Y136H	probably damaging	Het
Pard3	G	A	8: 128,329,646 (GRCm39)	R1214H	probably damaging	Het
Phf20	T	A	2: 156,144,928 (GRCm39)	Y845*	probably null	Het
Pik3c2a	A	G	7: 115,993,474 (GRCm39)	I431T	probably damaging	Het
Plxna2	A	G	1: 194,494,464 (GRCm39)	S1894G	probably damaging	Het
Ppp4r1	C	A	17: 66,120,493 (GRCm39)	T209K	probably damaging	Het
Prc1	T	C	7: 79,950,183 (GRCm39)		probably null	Het
Prex2	T	G	1: 11,274,316 (GRCm39)	D1329E	probably damaging	Het
Ptch1	C	T	13: 63,659,528 (GRCm39)	R1375H	probably benign	Het
Rab24	A	T	13: 55,468,921 (GRCm39)	C87S	probably damaging	Het
Rnf43	A	T	11: 87,622,954 (GRCm39)	Y558F	probably benign	Het
Serpinb6e	T	C	13: 34,016,474 (GRCm39)	I420V	possibly damaging	Het
Slain2	C	A	5: 73,072,143 (GRCm39)	S59*	probably null	Het
Slfn3	A	G	11: 83,105,731 (GRCm39)	D576G	probably benign	Het
Sptbn4	A	G	7: 27,141,960 (GRCm39)	M11T	probably benign	Het
Tdh	T	C	14: 63,731,460 (GRCm39)	D238G	probably damaging	Het
Top2b	T	A	14: 16,395,427 (GRCm38)	Y337*	probably null	Het
Trav15-2-dv6-2	A	C	14: 53,887,308 (GRCm39)	Y76S	probably benign	Het
Vmn1r172	G	T	7: 23,359,189 (GRCm39)	G25C	probably damaging	Het
Vmn2r60	AG	A	7: 41,845,158 (GRCm39)		probably null	Het
Vps13d	T	C	4: 144,818,492 (GRCm39)	E3125G		Het
Xkr6	G	T	14: 64,056,610 (GRCm39)	V430F	probably benign	Het
Zfp142	T	C	1: 74,610,061 (GRCm39)	T1245A	probably benign	Het
Zfp960	C	T	17: 17,307,825 (GRCm39)	H180Y	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
R5388:Ppp1r7	UTSW	1	93,280,312 (GRCm39)	missense	probably damaging	0.99
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'- GTCCAGACATCACAGAGAAAGTCT -3'
(R):5'- CAAAAGGGATTTTAGTTTAGAGGGT -3'

Sequencing Primer
(F):5'- CACAGAGAAAGTCTAGATTGCCTTG -3'
(R):5'- CTATAGCCTGTGGATTATACTGTTTC -3'

Posted On

2019-10-17