Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02024:Ppp4r3c1'

184092

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp4r3c1

Ensembl Gene

ENSMUSG00000035387

Gene Name

protein phosphatase 4 regulatory subunit 3C1

Synonyms

4930415L06Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02024

Quality Score

Status

Chromosome

Chromosomal Location

88973704-88976458 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88975129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 356 (T356I)

Ref Sequence

ENSEMBL: ENSMUSP00000085471 (fasta)

Gene Model

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

AlphaFold

Q3V0Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000088146
AA Change: T356I

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000085471
Gene: ENSMUSG00000035387
AA Change: T356I

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,113,705 (GRCm39)	H246Y	probably damaging	Het
Abat	G	A	16: 8,429,000 (GRCm39)	A322T	probably damaging	Het
Bcat1	A	G	6: 144,978,564 (GRCm39)	V152A	probably damaging	Het
Btaf1	A	G	19: 36,969,826 (GRCm39)		probably benign	Het
Elavl2	T	C	4: 91,141,776 (GRCm39)	T291A	probably benign	Het
Ezh1	G	T	11: 101,090,166 (GRCm39)	H529Q	probably damaging	Het
Fcgbp	G	A	7: 27,805,799 (GRCm39)	C2026Y	probably damaging	Het
Fcgrt	T	A	7: 44,744,682 (GRCm39)	H258L	probably damaging	Het
Galnt6	C	T	15: 100,601,374 (GRCm39)	D302N	probably benign	Het
Gldc	T	A	19: 30,078,227 (GRCm39)	R923S	probably damaging	Het
Hspg2	G	T	4: 137,267,384 (GRCm39)	A2033S	probably damaging	Het
Htr2c	T	A	X: 145,858,921 (GRCm39)	M77K	probably damaging	Het
Ifi208	A	G	1: 173,510,856 (GRCm39)	Y337C	probably damaging	Het
Ints11	G	T	4: 155,972,972 (GRCm39)	W554L	probably damaging	Het
Itgbl1	T	A	14: 124,094,904 (GRCm39)	C186S	probably damaging	Het
Lipf	A	G	19: 33,953,995 (GRCm39)	Y362C	probably damaging	Het
Map2k7	T	A	8: 4,297,663 (GRCm39)	S421R	possibly damaging	Het
Mroh9	T	G	1: 162,890,071 (GRCm39)	N222T	possibly damaging	Het
Msl3	C	A	X: 167,453,247 (GRCm39)	R89L	probably benign	Het
Nrip1	T	A	16: 76,088,563 (GRCm39)	D998V	probably benign	Het
Nrk	T	A	X: 137,896,678 (GRCm39)	I1265N	probably damaging	Het
Ntn5	A	G	7: 45,340,830 (GRCm39)		probably benign	Het
Or11g27	A	G	14: 50,771,307 (GRCm39)	N146S	probably benign	Het
Or5w20	A	T	2: 87,727,243 (GRCm39)	R233S	possibly damaging	Het
Or6s1	T	G	14: 51,308,766 (GRCm39)	E28A	probably benign	Het
Plch2	T	C	4: 155,127,595 (GRCm39)		probably benign	Het
Porcn	C	T	X: 8,067,901 (GRCm39)	V233I	probably benign	Het
Ppp2r2a	T	C	14: 67,276,361 (GRCm39)	K48R	probably benign	Het
Rccd1	A	T	7: 79,968,755 (GRCm39)	D268E	probably benign	Het
Sacs	C	A	14: 61,427,127 (GRCm39)	S178R	probably damaging	Het
Samd12	T	A	15: 53,521,862 (GRCm39)	D116V	probably damaging	Het
Slc12a8	A	G	16: 33,428,568 (GRCm39)	E46G	probably damaging	Het
Slc30a10	A	T	1: 185,187,438 (GRCm39)	I60F	possibly damaging	Het
Slc6a8	C	T	X: 72,722,583 (GRCm39)		probably benign	Het
Sos2	A	G	12: 69,664,822 (GRCm39)		probably benign	Het
Tbc1d31	T	C	15: 57,783,338 (GRCm39)	V79A	probably benign	Het
Tmem184c	A	T	8: 78,331,443 (GRCm39)	V102E	probably benign	Het
Ttc19	G	T	11: 62,203,939 (GRCm39)	R300I	probably damaging	Het
Unc5d	T	A	8: 29,142,855 (GRCm39)	I866F	probably benign	Het
Vmn1r7	A	T	6: 57,001,874 (GRCm39)	C129S	probably benign	Het
Vps41	T	A	13: 18,975,827 (GRCm39)		probably benign	Het
Vwa8	C	T	14: 79,331,724 (GRCm39)	A1275V	possibly damaging	Het

Other mutations in Ppp4r3c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-05-07