Mutagenetix > Incidental Mutation

Incidental Mutation 'R7922:Ppp5c'

648442

Institutional Source

Beutler Lab

Gene Symbol

Ppp5c

Ensembl Gene

ENSMUSG00000003099

Gene Name

protein phosphatase 5, catalytic subunit

Synonyms

PP5, ANP receptor

MMRRC Submission

045969-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7922 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16738575-16761812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16761725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 5 (E5G)

Ref Sequence

ENSEMBL: ENSMUSP00000003183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003183] [ENSMUST00000108492]

AlphaFold

Q60676

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003183
AA Change: E5G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000003183
Gene: ENSMUSG00000003099
AA Change: E5G

Domain	Start	End	E-Value	Type
TPR	28	61	1.92e-6	SMART
TPR	62	95	8.29e0	SMART
TPR	96	129	4.28e-4	SMART
PP2Ac	204	480	2.8e-164	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108492

SMART Domains

Protein: ENSMUSP00000104132
Gene: ENSMUSG00000004328

Domain	Start	End	E-Value	Type
HLH	20	75	1.57e-7	SMART
PAS	84	150	9.83e-10	SMART
PAS	227	295	2.72e-3	SMART
PAC	301	344	2.18e-2	SMART
low complexity region	423	439	N/A	INTRINSIC
Pfam:HIF-1	475	506	5.7e-18	PFAM
low complexity region	510	522	N/A	INTRINSIC
low complexity region	527	538	N/A	INTRINSIC
low complexity region	597	609	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122783
Gene: ENSMUSG00000003099
AA Change: E3G

Domain	Start	End	E-Value	Type
TPR	27	60	1.92e-6	SMART
TPR	61	94	8.29e0	SMART
TPR	95	128	4.28e-4	SMART
PP2Ac	203	457	1.83e-145	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit a decrease in cell cycle check-point arrest following treatment with ionizing radition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,211,180 (GRCm39)	T638M	possibly damaging	Het
4930546C10Rik	A	G	18: 69,083,067 (GRCm39)		probably null	Het
Abi3	A	T	11: 95,723,619 (GRCm39)	Y342N	unknown	Het
Adk	G	A	14: 21,368,111 (GRCm39)	V195I	probably benign	Het
Ago2	C	T	15: 72,998,375 (GRCm39)	V268M	possibly damaging	Het
Apaf1	T	C	10: 90,835,615 (GRCm39)	I1077V	probably benign	Het
Arap1	A	T	7: 101,053,621 (GRCm39)	K1317*	probably null	Het
Auts2	T	A	5: 131,469,211 (GRCm39)	D493V		Het
Baz1b	A	T	5: 135,260,533 (GRCm39)	Q1110L	probably damaging	Het
Brsk2	T	A	7: 141,546,957 (GRCm39)	S467T	possibly damaging	Het
Btbd9	A	T	17: 30,493,858 (GRCm39)	M511K	probably benign	Het
Cdh23	T	A	10: 60,218,485 (GRCm39)	Y1385F	probably benign	Het
Cfap100	A	C	6: 90,380,962 (GRCm39)	L427V	unknown	Het
Cnga1	A	G	5: 72,762,225 (GRCm39)	F430L	possibly damaging	Het
Csnk2a1-ps3	A	T	1: 156,352,562 (GRCm39)	L254F	probably damaging	Het
Dnhd1	A	T	7: 105,317,721 (GRCm39)	D472V	probably damaging	Het
Dock2	T	A	11: 34,598,154 (GRCm39)	E339V	probably benign	Het
Eif3a	A	T	19: 60,764,280 (GRCm39)	V379E	probably damaging	Het
Erich4	T	A	7: 25,315,168 (GRCm39)	N36Y	probably damaging	Het
Frem2	T	C	3: 53,560,725 (GRCm39)	T1261A	probably damaging	Het
Fzd6	A	T	15: 38,894,503 (GRCm39)	D223V	probably damaging	Het
Gabra2	A	T	5: 71,165,315 (GRCm39)	Y218*	probably null	Het
Gcn1	G	T	5: 115,752,527 (GRCm39)	M2177I	probably benign	Het
Ghr	G	A	15: 3,370,556 (GRCm39)	T103I	possibly damaging	Het
Gipc1	T	C	8: 84,387,857 (GRCm39)	V79A	probably benign	Het
Gm13272	T	A	4: 88,698,577 (GRCm39)	V164D	probably damaging	Het
Gramd4	C	A	15: 86,016,159 (GRCm39)	H503Q	probably benign	Het
Gstm4	A	T	3: 107,951,987 (GRCm39)	M1K	probably null	Het
Heatr5b	T	A	17: 79,067,988 (GRCm39)	Q1800L	probably benign	Het
Hectd1	T	A	12: 51,836,978 (GRCm39)	K826*	probably null	Het
Hoxa9	T	C	6: 52,201,289 (GRCm39)	I251V	possibly damaging	Het
Il2ra	A	T	2: 11,679,177 (GRCm39)	I46F	possibly damaging	Het
Ints2	T	A	11: 86,135,453 (GRCm39)	R320S	probably benign	Het
Iscu	A	T	5: 113,912,343 (GRCm39)	N46I	probably damaging	Het
Iscu	G	A	5: 113,912,410 (GRCm39)	R60Q	unknown	Het
Kcnk3	A	T	5: 30,745,875 (GRCm39)	H72L	probably damaging	Het
Kmt2a	T	G	9: 44,754,157 (GRCm39)	S1228R	unknown	Het
Mbl2	T	A	19: 30,216,638 (GRCm39)	L150Q	probably damaging	Het
Med13	A	T	11: 86,161,831 (GRCm39)	F2166Y	probably damaging	Het
Mterf4	A	C	1: 93,229,275 (GRCm39)	L246*	probably null	Het
Muc16	T	C	9: 18,496,121 (GRCm39)	Q6690R	probably benign	Het
Myh10	T	A	11: 68,699,719 (GRCm39)	L1722Q	possibly damaging	Het
Neurod2	T	C	11: 98,218,454 (GRCm39)	M237V	probably benign	Het
Olfml1	A	G	7: 107,170,356 (GRCm39)	Y81C	probably damaging	Het
Or4q3	A	G	14: 50,583,872 (GRCm39)	V9A	probably benign	Het
Pcdhga7	A	T	18: 37,849,226 (GRCm39)	N411I	probably benign	Het
Pcdhgb8	T	C	18: 37,897,002 (GRCm39)	F691L	probably benign	Het
Pik3c2a	A	G	7: 115,990,517 (GRCm39)	V481A	probably damaging	Het
Pik3r6	A	T	11: 68,424,701 (GRCm39)	R435S	probably benign	Het
Pkd1l1	G	A	11: 8,799,013 (GRCm39)	H2250Y		Het
Pkd1l1	A	G	11: 8,859,857 (GRCm39)	S1034P		Het
Plcd1	C	A	9: 118,903,720 (GRCm39)	R400L	possibly damaging	Het
Ppp2r1a	A	G	17: 21,174,879 (GRCm39)	T58A	probably benign	Het
Pradc1	A	C	6: 85,424,950 (GRCm39)	F82L	probably benign	Het
Prkag3	A	T	1: 74,780,416 (GRCm39)	S416R	probably benign	Het
Rab3gap2	T	C	1: 184,982,117 (GRCm39)	C390R	probably benign	Het
Rhot1	A	G	11: 80,156,629 (GRCm39)	T655A	probably benign	Het
Rorc	A	G	3: 94,298,495 (GRCm39)	I348V	probably damaging	Het
Ryr1	A	T	7: 28,796,649 (GRCm39)	V1051E	probably benign	Het
Sema5b	GCAC	GC	16: 35,478,626 (GRCm39)		probably null	Het
Serpinb3c	G	A	1: 107,199,744 (GRCm39)	T259I	probably damaging	Het
Sh3gl1	A	T	17: 56,326,438 (GRCm39)	M70K	probably damaging	Het
Sinhcaf	T	A	6: 148,827,644 (GRCm39)	T125S	probably benign	Het
Slc7a4	C	T	16: 17,391,230 (GRCm39)	V607I	probably benign	Het
Spop	A	T	11: 95,362,154 (GRCm39)	N62Y	probably damaging	Het
Spout1	A	G	2: 30,066,823 (GRCm39)	F130S	probably benign	Het
Tab1	A	G	15: 80,043,066 (GRCm39)	H420R	possibly damaging	Het
Tecpr2	CA	C	12: 110,899,076 (GRCm39)		probably null	Het
Tnxb	G	C	17: 34,933,577 (GRCm39)	K2332N	probably damaging	Het
Togaram1	T	C	12: 65,014,512 (GRCm39)	Y588H	probably damaging	Het
Trim71	G	A	9: 114,342,153 (GRCm39)	R710C	probably damaging	Het
Tsen54	C	T	11: 115,711,608 (GRCm39)	Q342*	probably null	Het
Ube2r2	T	A	4: 41,190,812 (GRCm39)	N235K	unknown	Het
Utrn	C	A	10: 12,543,271 (GRCm39)	K1792N	possibly damaging	Het
Vmn1r122	A	G	7: 20,867,587 (GRCm39)	I156T	possibly damaging	Het
Vmn1r94	T	C	7: 19,901,636 (GRCm39)	T223A	possibly damaging	Het
Vmn2r120	G	A	17: 57,831,683 (GRCm39)	R369W	probably damaging	Het
Vwa7	G	T	17: 35,243,409 (GRCm39)	A717S	possibly damaging	Het
Zc3h4	T	A	7: 16,159,647 (GRCm39)	C398S	unknown	Het
Zc3hc1	T	A	6: 30,390,874 (GRCm39)	E43V	possibly damaging	Het
Zfp101	A	T	17: 33,600,511 (GRCm39)	V415D	possibly damaging	Het
Zfp553	A	G	7: 126,835,768 (GRCm39)	H441R	probably damaging	Het

Other mutations in Ppp5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02302:Ppp5c	APN	7	16,742,555 (GRCm39)	missense	possibly damaging	0.87
IGL02794:Ppp5c	APN	7	16,740,885 (GRCm39)	missense	probably benign	0.15
IGL02831:Ppp5c	APN	7	16,742,570 (GRCm39)	missense	probably damaging	1.00
IGL02950:Ppp5c	APN	7	16,740,835 (GRCm39)	missense	probably benign	0.00
Persephone	UTSW	7	16,756,368 (GRCm39)	missense	probably benign	0.01
pontius	UTSW	7	16,741,137 (GRCm39)	nonsense	probably null
Pylon	UTSW	7	16,740,274 (GRCm39)	missense	probably damaging	1.00
R0078:Ppp5c	UTSW	7	16,761,650 (GRCm39)	missense	probably benign	0.09
R0366:Ppp5c	UTSW	7	16,756,508 (GRCm39)	nonsense	probably null
R1102:Ppp5c	UTSW	7	16,756,368 (GRCm39)	missense	probably benign	0.01
R1511:Ppp5c	UTSW	7	16,743,907 (GRCm39)	missense	probably damaging	1.00
R1518:Ppp5c	UTSW	7	16,743,861 (GRCm39)	missense	probably damaging	0.97
R1714:Ppp5c	UTSW	7	16,742,628 (GRCm39)	missense	probably benign	0.01
R1754:Ppp5c	UTSW	7	16,739,235 (GRCm39)	missense	probably benign	0.20
R2380:Ppp5c	UTSW	7	16,740,040 (GRCm39)	missense	probably damaging	1.00
R2431:Ppp5c	UTSW	7	16,749,350 (GRCm39)	missense	probably damaging	0.99
R4854:Ppp5c	UTSW	7	16,742,947 (GRCm39)	missense	probably benign	0.00
R4974:Ppp5c	UTSW	7	16,743,861 (GRCm39)	missense	probably damaging	0.97
R5303:Ppp5c	UTSW	7	16,739,209 (GRCm39)	missense	probably benign
R5626:Ppp5c	UTSW	7	16,761,629 (GRCm39)	missense	probably benign
R5785:Ppp5c	UTSW	7	16,761,616 (GRCm39)	critical splice donor site	probably null
R6059:Ppp5c	UTSW	7	16,761,832 (GRCm39)	unclassified	probably benign
R6855:Ppp5c	UTSW	7	16,740,891 (GRCm39)	missense	possibly damaging	0.95
R7760:Ppp5c	UTSW	7	16,740,274 (GRCm39)	missense	probably damaging	1.00
R7885:Ppp5c	UTSW	7	16,740,111 (GRCm39)	missense	possibly damaging	0.86
R8113:Ppp5c	UTSW	7	16,742,932 (GRCm39)	missense	probably benign
R8170:Ppp5c	UTSW	7	16,741,071 (GRCm39)	missense	probably damaging	0.99
R9260:Ppp5c	UTSW	7	16,740,886 (GRCm39)	missense	probably benign	0.06
R9376:Ppp5c	UTSW	7	16,743,849 (GRCm39)	missense	probably damaging	1.00
R9460:Ppp5c	UTSW	7	16,741,137 (GRCm39)	nonsense	probably null
X0026:Ppp5c	UTSW	7	16,741,035 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TACTCTGTAGTGCTTGCCCG -3'
(R):5'- TCTGGATACCCTCTGGTCAC -3'

Sequencing Primer
(F):5'- CGCGTTGCCATGGTTCC -3'
(R):5'- GGATACCCTCTGGTCACCTTGTC -3'

Posted On

2020-09-15