Mutagenetix > Incidental Mutation

Incidental Mutation 'R8699:Ppp6r3'

668969

Institutional Source

Beutler Lab

Gene Symbol

Ppp6r3

Ensembl Gene

ENSMUSG00000024908

Gene Name

protein phosphatase 6, regulatory subunit 3

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.863) question?

Stock #

R8699 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3454928-3575749 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3496587 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 304 (S304C)

Ref Sequence

ENSEMBL: ENSMUSP00000025846 (fasta)

Gene Model

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

AlphaFold

Q922D4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025846
AA Change: S304C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025846
Gene: ENSMUSG00000024908
AA Change: S304C

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 damaging
Transcript: ENSMUST00000113997
AA Change: S304C

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

SMART Domains

Protein: ENSMUSP00000109630
Gene: ENSMUSG00000024908
AA Change: S304C

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
AA Change: S304C

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131084
Gene: ENSMUSG00000024908
AA Change: S304C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	T	C	16: 90,931,057	K82E	probably benign	Het
4933430I17Rik	T	C	4: 62,532,278	W30R	probably damaging	Het
Abca3	A	G	17: 24,408,225	D1555G	probably benign	Het
Anapc1	T	C	2: 128,641,453	T1241A	probably damaging	Het
Ano5	G	A	7: 51,593,771	V881I	probably benign	Het
Appl1	G	A	14: 26,940,255	S490L	probably benign	Het
Asxl3	A	G	18: 22,434,607	T81A	probably benign	Het
Bclaf1	T	C	10: 20,333,438	S754P	possibly damaging	Het
Bicra	G	T	7: 15,989,188	Q135K	probably benign	Het
Cad	T	C	5: 31,076,261	V1951A	possibly damaging	Het
Cadm3	T	A	1: 173,341,116	Y295F	probably damaging	Het
Ccnt1	A	G	15: 98,565,114	I59T	probably damaging	Het
Ccr6	C	T	17: 8,256,566	T201M	probably benign	Het
Cd5	A	G	19: 10,725,192	F209S	possibly damaging	Het
Cep126	A	C	9: 8,087,361	D1017E	probably damaging	Het
Cntnap4	A	T	8: 112,757,596	D427V	probably damaging	Het
Col4a4	T	A	1: 82,455,734	N1496I	unknown	Het
Crybg3	A	G	16: 59,554,928	Y274H	probably damaging	Het
Cubn	C	A	2: 13,383,959	S1479I	probably damaging	Het
Diras2	A	T	13: 52,508,107	C55S	probably damaging	Het
Dleu7	G	A	14: 62,292,830	R41C	probably benign	Het
Exo5	A	G	4: 120,921,996	I224T	probably damaging	Het
Fcho1	T	C	8: 71,709,633	I774V	possibly damaging	Het
Gclm	T	G	3: 122,266,323	S251A	possibly damaging	Het
Gm11639	A	G	11: 104,781,246	T1464A	probably benign	Het
Gm13889	T	C	2: 93,956,982	Q49R	unknown	Het
Gm35315	T	A	5: 110,080,526	H18L	probably benign	Het
Gm9949	G	A	18: 62,183,972	G65R	unknown	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gria4	C	A	9: 4,424,347	K839N	probably damaging	Het
Gria4	T	G	9: 4,424,351	Y838S	probably damaging	Het
Hrh3	A	G	2: 180,101,356	W160R	probably damaging	Het
Htr4	G	A	18: 62,437,692	A273T	probably damaging	Het
Lig3	G	T	11: 82,794,550	C599F	probably damaging	Het
Lrp1b	A	T	2: 41,282,195	V1594E		Het
Map3k10	A	T	7: 27,668,355	V286D	probably damaging	Het
Map4k4	T	A	1: 39,976,750	V117E	unknown	Het
Mdga1	C	T	17: 29,842,374	V548M	possibly damaging	Het
Mms22l	A	T	4: 24,507,363	L248F	possibly damaging	Het
Ncaph	T	C	2: 127,121,176	D379G	possibly damaging	Het
Neb	A	G	2: 52,147,234	V7064A	probably benign	Het
Neb	G	A	2: 52,212,551	T4570M	probably benign	Het
Npy5r	G	T	8: 66,681,622	T173K	probably damaging	Het
Olfr1002	A	T	2: 85,647,986	C112S	possibly damaging	Het
Olfr1037	A	T	2: 86,085,174	I201N	probably damaging	Het
Olfr1442	A	G	19: 12,674,882	M226V	probably benign	Het
Olfr1447	A	T	19: 12,901,464	F105L	possibly damaging	Het
Olfr622	A	T	7: 103,639,615	I175N	probably damaging	Het
Oxsm	A	G	14: 16,242,631	I46T	possibly damaging	Het
Pcdha1	A	T	18: 36,931,023	I247F	probably benign	Het
Pcdhgb6	A	T	18: 37,742,922	I228L	probably benign	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Ppp1r9a	A	G	6: 5,115,474	S866G	probably benign	Het
Pramef6	A	T	4: 143,897,192	N137K	probably benign	Het
Ptprd	A	T	4: 76,041,392	F279I	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rest	G	A	5: 77,281,542	G603R	probably benign	Het
Rgs17	A	T	10: 5,918,194	L9M	probably benign	Het
Rtp1	A	G	16: 23,431,383	Y166C	probably damaging	Het
Sec24b	C	A	3: 130,005,004	R572I	probably damaging	Het
Setd1a	G	T	7: 127,786,602	R827L	possibly damaging	Het
Sh3tc1	T	C	5: 35,701,891	Y1091C	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Stat4	T	A	1: 52,071,937	M181K	probably benign	Het
Stk16	A	G	1: 75,212,038	E67G	probably benign	Het
Supv3l1	A	G	10: 62,432,455	V537A	possibly damaging	Het
Tmc8	A	G	11: 117,783,535	E101G	possibly damaging	Het
Tmem106a	A	T	11: 101,582,294		probably benign	Het
Tpr	T	A	1: 150,418,021	I922N	probably damaging	Het
Uaca	G	T	9: 60,871,065	L911F	probably damaging	Het
Ubn1	A	T	16: 5,063,703	I200L	possibly damaging	Het
Ush2a	A	G	1: 188,911,377	D4312G	probably damaging	Het
Virma	A	T	4: 11,528,678	Y1255F	probably benign	Het
Vmn1r170	C	T	7: 23,606,655	Q161*	probably null	Het
Vmn1r175	G	T	7: 23,808,809	A131D	probably benign	Het
Vmn1r52	T	A	6: 90,178,760	N15K	probably benign	Het
Wdr46	T	A	17: 33,948,852	I513N	probably damaging	Het
Wdr60	T	C	12: 116,207,701	T972A	probably benign	Het
Zfp788	A	G	7: 41,648,416	N159D	probably benign	Het

Other mutations in Ppp6r3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Ppp6r3	APN	19	3514729	splice site	probably null
IGL00340:Ppp6r3	APN	19	3518324	missense	probably damaging	1.00
IGL00585:Ppp6r3	APN	19	3490826	missense	probably damaging	0.99
IGL01304:Ppp6r3	APN	19	3467261	missense	probably damaging	0.99
IGL02048:Ppp6r3	APN	19	3473848	missense	possibly damaging	0.96
IGL02055:Ppp6r3	APN	19	3521781	missense	probably benign	0.01
IGL02108:Ppp6r3	APN	19	3492494	missense	probably damaging	1.00
IGL02227:Ppp6r3	APN	19	3518245	missense	possibly damaging	0.56
IGL02427:Ppp6r3	APN	19	3466580	missense	probably null
IGL02441:Ppp6r3	APN	19	3464693	missense	probably benign	0.14
IGL02805:Ppp6r3	APN	19	3492428	missense	probably benign	0.15
IGL03298:Ppp6r3	APN	19	3521829	missense	probably damaging	0.97
PIT1430001:Ppp6r3	UTSW	19	3471059	nonsense	probably null
R0324:Ppp6r3	UTSW	19	3464693	missense	probably benign	0.00
R0362:Ppp6r3	UTSW	19	3478285	missense	probably damaging	0.96
R1876:Ppp6r3	UTSW	19	3471971	splice site	probably benign
R2860:Ppp6r3	UTSW	19	3521782	missense	possibly damaging	0.49
R2861:Ppp6r3	UTSW	19	3521782	missense	possibly damaging	0.49
R2862:Ppp6r3	UTSW	19	3521782	missense	possibly damaging	0.49
R3958:Ppp6r3	UTSW	19	3496583	missense	probably damaging	0.99
R4158:Ppp6r3	UTSW	19	3512037	missense	probably damaging	0.97
R4160:Ppp6r3	UTSW	19	3512037	missense	probably damaging	0.97
R4473:Ppp6r3	UTSW	19	3511978	missense	probably damaging	1.00
R4901:Ppp6r3	UTSW	19	3467229	missense	probably damaging	1.00
R4996:Ppp6r3	UTSW	19	3473833	missense	probably damaging	0.98
R5139:Ppp6r3	UTSW	19	3464610	missense	probably damaging	1.00
R5414:Ppp6r3	UTSW	19	3507330	missense	probably damaging	1.00
R5776:Ppp6r3	UTSW	19	3526901	missense	possibly damaging	0.77
R6290:Ppp6r3	UTSW	19	3494011	missense	probably benign
R6525:Ppp6r3	UTSW	19	3493936	missense	probably damaging	0.99
R6797:Ppp6r3	UTSW	19	3514719	missense	probably damaging	1.00
R6977:Ppp6r3	UTSW	19	3467272	missense	probably damaging	1.00
R7176:Ppp6r3	UTSW	19	3471989	missense	probably damaging	0.99
R7178:Ppp6r3	UTSW	19	3518337	missense	probably benign	0.00
R7239:Ppp6r3	UTSW	19	3493981	missense	probably benign	0.38
R7326:Ppp6r3	UTSW	19	3507325	missense	probably damaging	1.00
R7536:Ppp6r3	UTSW	19	3507341	missense	possibly damaging	0.80
R7583:Ppp6r3	UTSW	19	3490790	missense	probably benign
R7991:Ppp6r3	UTSW	19	3459750	missense	probably benign
R8486:Ppp6r3	UTSW	19	3487072	missense	probably benign
R8818:Ppp6r3	UTSW	19	3467216	missense	probably benign	0.31
R8826:Ppp6r3	UTSW	19	3471984	missense
R8846:Ppp6r3	UTSW	19	3514654	missense	probably damaging	0.99
R8863:Ppp6r3	UTSW	19	3471030	missense	probably damaging	1.00
R8869:Ppp6r3	UTSW	19	3511927	critical splice donor site	probably null
R8895:Ppp6r3	UTSW	19	3494017	missense	probably damaging	1.00
R8909:Ppp6r3	UTSW	19	3459461	missense	probably benign	0.17
R9147:Ppp6r3	UTSW	19	3493974	missense	probably damaging	1.00
R9148:Ppp6r3	UTSW	19	3493974	missense	probably damaging	1.00
R9200:Ppp6r3	UTSW	19	3469748	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCAGGTGCACACATATGC -3'
(R):5'- TGGCCAACTCTTTGACATCACC -3'

Sequencing Primer
(F):5'- GCACACATATGCACACACTAC -3'
(R):5'- CTTTGACATCACCATAACATTGTCAC -3'

Posted On

2021-04-30