Mutagenetix > Incidental Mutation

Incidental Mutation 'R2299:Ppp4r3c1'

245288

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r3c1

Ensembl Gene

ENSMUSG00000035387

Gene Name

protein phosphatase 4 regulatory subunit 3C1

Synonyms

4930415L06Rik

MMRRC Submission

040298-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R2299 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

88973704-88976458 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88976005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 64 (M64T)

Ref Sequence

ENSEMBL: ENSMUSP00000085471 (fasta)

Gene Model

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

AlphaFold

Q3V0Y1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088146
AA Change: M64T

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

SMART Domains

Protein: ENSMUSP00000085471
Gene: ENSMUSG00000035387
AA Change: M64T

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,971,845 (GRCm39)	N68S	possibly damaging	Het
5031439G07Rik	A	C	15: 84,837,486 (GRCm39)	F276V	possibly damaging	Het
Abca12	C	T	1: 71,297,381 (GRCm39)	V2370I	probably damaging	Het
Acsl3	T	G	1: 78,676,827 (GRCm39)	C469W	probably damaging	Het
Adgrg5	A	T	8: 95,665,204 (GRCm39)	I372F	possibly damaging	Het
Ankrd42	A	G	7: 92,239,462 (GRCm39)	I442T	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bmpr1b	C	A	3: 141,550,963 (GRCm39)	R376L	probably damaging	Het
C1qtnf6	T	A	15: 78,409,542 (GRCm39)	T102S	probably benign	Het
Chordc1	T	C	9: 18,213,404 (GRCm39)	L85P	probably damaging	Het
Clec2j	T	A	6: 128,632,199 (GRCm39)		noncoding transcript	Het
Copa	T	C	1: 171,949,292 (GRCm39)	I1223T	probably benign	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cyfip2	T	A	11: 46,176,958 (GRCm39)	E74V	probably benign	Het
Dsg1a	A	T	18: 20,473,207 (GRCm39)	D760V	probably damaging	Het
Folr1	A	G	7: 101,513,199 (GRCm39)	L32P	probably damaging	Het
Galnt13	A	T	2: 54,950,595 (GRCm39)	R425S	possibly damaging	Het
Gm4559	A	T	7: 141,827,572 (GRCm39)	C177S	unknown	Het
H2bc9	A	G	13: 23,727,354 (GRCm39)	S57P	probably damaging	Het
H3f3a	C	T	1: 180,630,703 (GRCm39)	R117H	probably benign	Het
Kansl1l	T	C	1: 66,812,636 (GRCm39)	D459G	probably damaging	Het
Limd1	A	T	9: 123,345,942 (GRCm39)	K574*	probably null	Het
Mmrn1	A	G	6: 60,953,425 (GRCm39)	K569E	probably damaging	Het
Or51f1d	T	C	7: 102,700,789 (GRCm39)	W95R	probably damaging	Het
Ppwd1	T	C	13: 104,356,571 (GRCm39)	M315V	probably benign	Het
Prss21	A	G	17: 24,088,563 (GRCm39)	E176G	probably benign	Het
Ptpn23	A	G	9: 110,221,581 (GRCm39)	I173T	possibly damaging	Het
Rit1	T	A	3: 88,633,377 (GRCm39)		probably null	Het
Rnf14	C	T	18: 38,441,138 (GRCm39)	A176V	probably benign	Het
Sema5a	T	A	15: 32,562,922 (GRCm39)	V311E	possibly damaging	Het
Slc28a2	C	T	2: 122,272,259 (GRCm39)	Q34*	probably null	Het
Spire1	A	C	18: 67,663,493 (GRCm39)	L36R	probably damaging	Het
Usp33	T	A	3: 152,080,258 (GRCm39)	V463E	probably damaging	Het
Vcpip1	A	G	1: 9,815,944 (GRCm39)	L813S	possibly damaging	Het
Vmn1r174	A	T	7: 23,453,429 (GRCm39)	I32F	probably benign	Het
Zbtb24	G	A	10: 41,340,577 (GRCm39)	V536M	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
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
R4003: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'- TCCAGATCATCAGTAAGTTCTTGTG -3'
(R):5'- AGGTCTGCAAAATGACGTGG -3'

Sequencing Primer
(F):5'- GTGATTTCTACATGTGGGTCTTTACC -3'
(R):5'- TCTGCAAAATGACGTGGCCTAG -3'

Posted On

2014-10-30