Mutagenetix > Incidental Mutation

Incidental Mutation 'R4003:Ppp4r3c1'

311368

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r3c1

Ensembl Gene

ENSMUSG00000035387

Gene Name

protein phosphatase 4 regulatory subunit 3C1

Synonyms

4930415L06Rik

MMRRC Submission

040945-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R4003 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

88973704-88976458 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88974116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 694 (I694V)

Ref Sequence

ENSEMBL: ENSMUSP00000085471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088146]

AlphaFold

Q3V0Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000088146
AA Change: I694V

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000085471
Gene: ENSMUSG00000035387
AA Change: I694V

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	18	107	1e-22	SMART
Pfam:SMK-1	178	369	9e-72	PFAM
low complexity region	650	663	N/A	INTRINSIC
low complexity region	692	707	N/A	INTRINSIC
low complexity region	774	791	N/A	INTRINSIC
low complexity region	793	806	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.6%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	A	T	7: 143,451,040 (GRCm39)	M350L	probably benign	Het
Adgrf4	A	T	17: 42,980,650 (GRCm39)	I145N	probably damaging	Het
Adgrv1	GA	GAA	13: 81,688,251 (GRCm39)		probably null	Het
Bmp8b	T	A	4: 123,015,671 (GRCm39)		probably benign	Het
Cdhr2	A	T	13: 54,866,079 (GRCm39)	E293V	probably benign	Het
Cerkl	C	A	2: 79,259,138 (GRCm39)	R33L	possibly damaging	Het
Chd9	C	T	8: 91,683,185 (GRCm39)	R542C	probably damaging	Het
Csnk2a1	A	G	2: 152,092,495 (GRCm39)	E22G	probably damaging	Het
Dnah7c	A	G	1: 46,720,977 (GRCm39)	K2834E	probably damaging	Het
Eftud2	C	T	11: 102,750,936 (GRCm39)	E286K	possibly damaging	Het
Elapor2	A	C	5: 9,490,877 (GRCm39)	E629A	probably benign	Het
Fam222b	C	T	11: 78,045,755 (GRCm39)	P439S	probably benign	Het
Gsn	A	G	2: 35,173,995 (GRCm39)	K35E	probably benign	Het
Hif3a	T	A	7: 16,778,844 (GRCm39)	Q358H	probably damaging	Het
L3hypdh	T	C	12: 72,131,890 (GRCm39)	D14G	probably benign	Het
Map2	T	C	1: 66,454,899 (GRCm39)	I1263T	probably damaging	Het
Mrgprx3-ps	T	C	7: 46,959,959 (GRCm39)	T11A	probably benign	Het
Mylk	C	A	16: 34,783,947 (GRCm39)	A1371D	probably benign	Het
Myo1b	A	G	1: 51,838,689 (GRCm39)		probably null	Het
Or7g35	T	G	9: 19,496,010 (GRCm39)	M59R	probably damaging	Het
Pkp3	A	G	7: 140,668,650 (GRCm39)		probably null	Het
Ptprt	A	G	2: 161,408,037 (GRCm39)		probably benign	Het
Rabep1	T	A	11: 70,808,193 (GRCm39)	M340K	probably benign	Het
Scn10a	T	C	9: 119,438,034 (GRCm39)	D1945G	probably null	Het
Slc22a2	A	T	17: 12,831,337 (GRCm39)	I376F	probably benign	Het
Slc34a1	T	C	13: 55,550,474 (GRCm39)		probably benign	Het
Smc2	T	C	4: 52,462,897 (GRCm39)	V629A	probably damaging	Het
Stab2	G	T	10: 86,693,988 (GRCm39)	D633E	probably damaging	Het
Tmco3	G	A	8: 13,341,959 (GRCm39)	V78M	probably damaging	Het
Tnfaip2	C	T	12: 111,417,778 (GRCm39)		probably benign	Het
Tnfrsf25	T	C	4: 152,204,058 (GRCm39)	M333T	probably damaging	Het
Triobp	A	G	15: 78,844,177 (GRCm39)		probably benign	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zfp236	A	T	18: 82,698,870 (GRCm39)	C70*	probably null	Het
Zfp384	T	C	6: 125,010,200 (GRCm39)		probably benign	Het
Zfp619	A	G	7: 39,186,730 (GRCm39)	E920G	possibly damaging	Het
Zhx3	G	A	2: 160,622,809 (GRCm39)	P453S	probably damaging	Het

Other mutations in Ppp4r3c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02024:Ppp4r3c1	APN	X	88,975,129 (GRCm39)	missense	probably benign	0.17
IGL02226:Ppp4r3c1	APN	X	88,975,518 (GRCm39)	missense	probably damaging	0.99
R1980:Ppp4r3c1	UTSW	X	88,975,051 (GRCm39)	missense	probably damaging	1.00
R1981:Ppp4r3c1	UTSW	X	88,975,051 (GRCm39)	missense	probably damaging	1.00
R1982:Ppp4r3c1	UTSW	X	88,975,051 (GRCm39)	missense	probably damaging	1.00
R2299:Ppp4r3c1	UTSW	X	88,976,005 (GRCm39)	missense	possibly damaging	0.72
R2381:Ppp4r3c1	UTSW	X	88,974,116 (GRCm39)	missense	probably benign	0.34
R2895:Ppp4r3c1	UTSW	X	88,976,005 (GRCm39)	missense	possibly damaging	0.72
R2896:Ppp4r3c1	UTSW	X	88,976,005 (GRCm39)	missense	possibly damaging	0.72
R4001:Ppp4r3c1	UTSW	X	88,974,116 (GRCm39)	missense	probably benign	0.34
R4042:Ppp4r3c1	UTSW	X	88,975,909 (GRCm39)	missense	probably damaging	1.00
R4043:Ppp4r3c1	UTSW	X	88,975,909 (GRCm39)	missense	probably damaging	1.00
R4280:Ppp4r3c1	UTSW	X	88,976,105 (GRCm39)	missense	probably damaging	1.00
R4281:Ppp4r3c1	UTSW	X	88,976,105 (GRCm39)	missense	probably damaging	1.00
R4282:Ppp4r3c1	UTSW	X	88,976,105 (GRCm39)	missense	probably damaging	1.00
Z1088:Ppp4r3c1	UTSW	X	88,973,843 (GRCm39)	missense	unknown
Z1088:Ppp4r3c1	UTSW	X	88,973,842 (GRCm39)	missense	unknown
Z1176:Ppp4r3c1	UTSW	X	88,973,847 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCAGAAGCATCCCCATGAGATG -3'
(R):5'- ACGTCTCTGATTGTAAACATTGTGG -3'

Sequencing Primer
(F):5'- TGGACAACATTCAGAAGCTTCAG -3'
(R):5'- GGGCTTTTAAATCAATTGAGTATGTC -3'

Posted On

2015-04-29