Mutagenetix > Incidental Mutation

Incidental Mutation 'R1876:Ppp6r3'

211270

Institutional Source

Beutler Lab

Gene Symbol

Ppp6r3

Ensembl Gene

ENSMUSG00000024908

Gene Name

protein phosphatase 6, regulatory subunit 3

Synonyms

4930528G08Rik, Pptcs3, Saps3, D19Bwg1430e, D19Ertd703e, Pp6r3, 9130026N02Rik

MMRRC Submission

039898-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.882) question?

Stock #

R1876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3504928-3625749 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 3521971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025846] [ENSMUST00000113997] [ENSMUST00000172362] [ENSMUST00000225475]

AlphaFold

Q922D4

Predicted Effect

probably benign
Transcript: ENSMUST00000025846

SMART Domains

Protein: ENSMUSP00000025846
Gene: ENSMUSG00000024908

Domain	Start	End	E-Value	Type
coiled coil region	25	52	N/A	INTRINSIC
Pfam:SAPS	128	365	2.7e-69	PFAM
Pfam:SAPS	360	513	1.4e-44	PFAM
low complexity region	609	627	N/A	INTRINSIC
low complexity region	743	758	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113997

SMART Domains

Protein: ENSMUSP00000109630
Gene: ENSMUSG00000024908

Domain	Start	End	E-Value	Type
coiled coil region	25	52	N/A	INTRINSIC
Pfam:SAPS	128	365	5.8e-69	PFAM
Pfam:SAPS	363	513	2.7e-44	PFAM
low complexity region	638	656	N/A	INTRINSIC
low complexity region	772	787	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172362

SMART Domains

Protein: ENSMUSP00000131084
Gene: ENSMUSG00000024908

Domain	Start	End	E-Value	Type
coiled coil region	25	52	N/A	INTRINSIC
Pfam:SAPS	128	365	2.6e-69	PFAM
Pfam:SAPS	360	513	1.3e-44	PFAM
low complexity region	592	610	N/A	INTRINSIC
low complexity region	726	741	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000225475

Predicted Effect

probably benign
Transcript: ENSMUST00000225624

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.2%

Validation Efficiency

99% (82/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 77,025,396 (GRCm39)	C961F	probably damaging	Het
Abca16	A	C	7: 120,032,608 (GRCm39)	D209A	probably damaging	Het
Adamts14	T	C	10: 61,036,151 (GRCm39)	I1047V	probably benign	Het
Ak1	A	G	2: 32,520,282 (GRCm39)	K27E	probably damaging	Het
Akap9	T	A	5: 4,011,809 (GRCm39)	D837E	probably benign	Het
Arfgef3	T	C	10: 18,473,104 (GRCm39)	Y1653C	probably damaging	Het
Atad2	T	G	15: 57,970,264 (GRCm39)	I446L	probably benign	Het
Atp8b3	T	G	10: 80,365,912 (GRCm39)	T313P	possibly damaging	Het
Btg4	T	C	9: 51,028,489 (GRCm39)	L72S	probably damaging	Het
Canx	A	G	11: 50,195,186 (GRCm39)	I294T	probably damaging	Het
Casp1	G	A	9: 5,303,663 (GRCm39)	E250K	probably benign	Het
Chchd10	T	A	10: 75,772,166 (GRCm39)	S46T	probably benign	Het
Col12a1	G	T	9: 79,585,563 (GRCm39)	Y1271*	probably null	Het
Col3a1	G	A	1: 45,381,395 (GRCm39)		probably null	Het
Ctc1	A	T	11: 68,922,390 (GRCm39)	T872S	probably benign	Het
Cx3cl1	T	C	8: 95,507,048 (GRCm39)	F351S	probably damaging	Het
Cyb5r4	T	A	9: 86,937,867 (GRCm39)	H295Q	probably damaging	Het
Cyp2j7	T	C	4: 96,105,656 (GRCm39)	T285A	probably benign	Het
Dip2a	G	A	10: 76,153,925 (GRCm39)	T135M	probably damaging	Het
Eif1ad18	T	G	12: 88,050,810 (GRCm39)	I115S	probably damaging	Het
Fgf10	A	G	13: 118,925,695 (GRCm39)	E158G	probably damaging	Het
Ftcd	G	T	10: 76,417,403 (GRCm39)	A281S	probably benign	Het
Gpat4	A	T	8: 23,669,486 (GRCm39)	M333K	possibly damaging	Het
Gpcpd1	A	G	2: 132,376,673 (GRCm39)	L541P	probably damaging	Het
Grk5	T	C	19: 61,071,663 (GRCm39)	Y408H	probably damaging	Het
Hcrtr2	A	G	9: 76,153,627 (GRCm39)		probably null	Het
Hsd17b13	T	A	5: 104,116,633 (GRCm39)	N127I	probably damaging	Het
Hspa4	T	G	11: 53,174,983 (GRCm39)	D158A	probably benign	Het
Ice2	G	A	9: 69,322,857 (GRCm39)	A451T	possibly damaging	Het
Inpp5e	A	T	2: 26,298,169 (GRCm39)	I144K	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc49	T	C	9: 60,495,060 (GRCm39)	I652V	possibly damaging	Het
Man1a	A	T	10: 53,795,268 (GRCm39)	W571R	probably damaging	Het
Mecom	A	G	3: 30,047,807 (GRCm39)	S32P	probably damaging	Het
Mrpl40	A	G	16: 18,691,224 (GRCm39)	I162T	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtmr12	T	C	15: 12,257,716 (GRCm39)	W265R	probably damaging	Het
Mup21	C	T	4: 62,067,663 (GRCm39)	V79I	probably benign	Het
Myh11	G	A	16: 14,086,967 (GRCm39)		probably benign	Het
Myom3	T	A	4: 135,506,711 (GRCm39)	F495I	probably benign	Het
Ncoa7	A	T	10: 30,574,122 (GRCm39)		probably benign	Het
Nisch	T	C	14: 30,895,594 (GRCm39)	Y45C	probably damaging	Het
Nkain2	T	A	10: 32,766,435 (GRCm39)		probably benign	Het
Or1ak2	A	T	2: 36,827,775 (GRCm39)	I215F	possibly damaging	Het
Or4k1	A	G	14: 50,377,629 (GRCm39)	S156P	probably damaging	Het
Pdcl	A	C	2: 37,245,708 (GRCm39)	H98Q	probably damaging	Het
Pink1	A	G	4: 138,043,013 (GRCm39)	V427A	probably damaging	Het
Plce1	T	C	19: 38,769,067 (GRCm39)	S2242P	probably damaging	Het
Plrg1	C	A	3: 82,976,375 (GRCm39)		probably benign	Het
Plxnc1	A	G	10: 94,702,803 (GRCm39)	F586S	possibly damaging	Het
Pnpla7	G	A	2: 24,930,985 (GRCm39)	V867M	possibly damaging	Het
Ppfia3	T	A	7: 45,001,631 (GRCm39)	D427V	possibly damaging	Het
Pros1	A	T	16: 62,723,881 (GRCm39)	S210C	probably damaging	Het
Ptk2b	A	G	14: 66,395,841 (GRCm39)	S839P	probably benign	Het
Ptpre	T	C	7: 135,280,046 (GRCm39)	V570A	possibly damaging	Het
Rbm48	C	T	5: 3,645,259 (GRCm39)	A142T	probably damaging	Het
Safb2	T	C	17: 56,883,909 (GRCm39)		probably null	Het
Scnn1a	A	G	6: 125,315,801 (GRCm39)	E384G	probably benign	Het
Sec23ip	A	G	7: 128,354,575 (GRCm39)	Y277C	probably benign	Het
Slc25a29	G	A	12: 108,793,637 (GRCm39)	T42M	probably damaging	Het
Slc6a4	A	T	11: 76,905,990 (GRCm39)	T264S	probably benign	Het
Srgap3	A	G	6: 112,752,527 (GRCm39)	M319T	probably damaging	Het
Strn4	T	A	7: 16,572,207 (GRCm39)	I640N	probably damaging	Het
Tacc2	A	G	7: 130,225,475 (GRCm39)	D739G	probably benign	Het
Tigd4	T	A	3: 84,501,242 (GRCm39)	L53*	probably null	Het
Tlr6	T	A	5: 65,112,763 (GRCm39)	D48V	probably damaging	Het
Tmem125	T	C	4: 118,399,101 (GRCm39)	D110G	probably damaging	Het
Tmem198	A	G	1: 75,461,567 (GRCm39)	D341G	probably damaging	Het
Tnfaip3	A	G	10: 18,880,682 (GRCm39)	F462L	possibly damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Ush2a	T	A	1: 188,410,486 (GRCm39)	I2378N	possibly damaging	Het
Usp47	A	G	7: 111,654,127 (GRCm39)	T108A	probably damaging	Het
Vmn1r236	T	A	17: 21,506,900 (GRCm39)	I6K	probably benign	Het
Vmn2r65	A	T	7: 84,595,505 (GRCm39)	V393D	probably damaging	Het

Other mutations in Ppp6r3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Ppp6r3	APN	19	3,564,729 (GRCm39)	splice site	probably null
IGL00340:Ppp6r3	APN	19	3,568,324 (GRCm39)	missense	probably damaging	1.00
IGL00585:Ppp6r3	APN	19	3,540,826 (GRCm39)	missense	probably damaging	0.99
IGL01304:Ppp6r3	APN	19	3,517,261 (GRCm39)	missense	probably damaging	0.99
IGL02048:Ppp6r3	APN	19	3,523,848 (GRCm39)	missense	possibly damaging	0.96
IGL02055:Ppp6r3	APN	19	3,571,781 (GRCm39)	missense	probably benign	0.01
IGL02108:Ppp6r3	APN	19	3,542,494 (GRCm39)	missense	probably damaging	1.00
IGL02227:Ppp6r3	APN	19	3,568,245 (GRCm39)	missense	possibly damaging	0.56
IGL02427:Ppp6r3	APN	19	3,516,580 (GRCm39)	missense	probably null
IGL02441:Ppp6r3	APN	19	3,514,693 (GRCm39)	missense	probably benign	0.14
IGL02805:Ppp6r3	APN	19	3,542,428 (GRCm39)	missense	probably benign	0.15
IGL03298:Ppp6r3	APN	19	3,571,829 (GRCm39)	missense	probably damaging	0.97
PIT1430001:Ppp6r3	UTSW	19	3,521,059 (GRCm39)	nonsense	probably null
R0324:Ppp6r3	UTSW	19	3,514,693 (GRCm39)	missense	probably benign	0.00
R0362:Ppp6r3	UTSW	19	3,528,285 (GRCm39)	missense	probably damaging	0.96
R2860:Ppp6r3	UTSW	19	3,571,782 (GRCm39)	missense	possibly damaging	0.49
R2861:Ppp6r3	UTSW	19	3,571,782 (GRCm39)	missense	possibly damaging	0.49
R2862:Ppp6r3	UTSW	19	3,571,782 (GRCm39)	missense	possibly damaging	0.49
R3958:Ppp6r3	UTSW	19	3,546,583 (GRCm39)	missense	probably damaging	0.99
R4158:Ppp6r3	UTSW	19	3,562,037 (GRCm39)	missense	probably damaging	0.97
R4160:Ppp6r3	UTSW	19	3,562,037 (GRCm39)	missense	probably damaging	0.97
R4473:Ppp6r3	UTSW	19	3,561,978 (GRCm39)	missense	probably damaging	1.00
R4901:Ppp6r3	UTSW	19	3,517,229 (GRCm39)	missense	probably damaging	1.00
R4996:Ppp6r3	UTSW	19	3,523,833 (GRCm39)	missense	probably damaging	0.98
R5139:Ppp6r3	UTSW	19	3,514,610 (GRCm39)	missense	probably damaging	1.00
R5414:Ppp6r3	UTSW	19	3,557,330 (GRCm39)	missense	probably damaging	1.00
R5776:Ppp6r3	UTSW	19	3,576,901 (GRCm39)	missense	possibly damaging	0.77
R6290:Ppp6r3	UTSW	19	3,544,011 (GRCm39)	missense	probably benign
R6525:Ppp6r3	UTSW	19	3,543,936 (GRCm39)	missense	probably damaging	0.99
R6797:Ppp6r3	UTSW	19	3,564,719 (GRCm39)	missense	probably damaging	1.00
R6977:Ppp6r3	UTSW	19	3,517,272 (GRCm39)	missense	probably damaging	1.00
R7176:Ppp6r3	UTSW	19	3,521,989 (GRCm39)	missense	probably damaging	0.99
R7178:Ppp6r3	UTSW	19	3,568,337 (GRCm39)	missense	probably benign	0.00
R7239:Ppp6r3	UTSW	19	3,543,981 (GRCm39)	missense	probably benign	0.38
R7326:Ppp6r3	UTSW	19	3,557,325 (GRCm39)	missense	probably damaging	1.00
R7536:Ppp6r3	UTSW	19	3,557,341 (GRCm39)	missense	possibly damaging	0.80
R7583:Ppp6r3	UTSW	19	3,540,790 (GRCm39)	missense	probably benign
R7991:Ppp6r3	UTSW	19	3,509,750 (GRCm39)	missense	probably benign
R8486:Ppp6r3	UTSW	19	3,537,072 (GRCm39)	missense	probably benign
R8699:Ppp6r3	UTSW	19	3,546,587 (GRCm39)	missense	probably damaging	1.00
R8818:Ppp6r3	UTSW	19	3,517,216 (GRCm39)	missense	probably benign	0.31
R8826:Ppp6r3	UTSW	19	3,521,984 (GRCm39)	missense
R8846:Ppp6r3	UTSW	19	3,564,654 (GRCm39)	missense	probably damaging	0.99
R8863:Ppp6r3	UTSW	19	3,521,030 (GRCm39)	missense	probably damaging	1.00
R8869:Ppp6r3	UTSW	19	3,561,927 (GRCm39)	critical splice donor site	probably null
R8895:Ppp6r3	UTSW	19	3,544,017 (GRCm39)	missense	probably damaging	1.00
R8909:Ppp6r3	UTSW	19	3,509,461 (GRCm39)	missense	probably benign	0.17
R9147:Ppp6r3	UTSW	19	3,543,974 (GRCm39)	missense	probably damaging	1.00
R9148:Ppp6r3	UTSW	19	3,543,974 (GRCm39)	missense	probably damaging	1.00
R9200:Ppp6r3	UTSW	19	3,519,748 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAGCTCGGGACAACCATC -3'
(R):5'- ACTCTTTAGTACCAGGGAGGG -3'

Sequencing Primer
(F):5'- TCGGGACAACCATCTGCAG -3'
(R):5'- AGGGTTTGTGCATTACTCACC -3'

Posted On

2014-06-30