Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02640:Ppp4r3c2'

301699

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp4r3c2

Ensembl Gene

ENSMUSG00000079513

Gene Name

protein phosphatase 4 regulatory subunit 3C2

Synonyms

4932429P05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

IGL02640

Quality Score

Status

Chromosome

Chromosomal Location

88795874-88799097 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88796210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 14 (V14A)

Ref Sequence

ENSEMBL: ENSMUSP00000109591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113958]

AlphaFold

A2ADI4

Predicted Effect

probably benign
Transcript: ENSMUST00000113958
AA Change: V14A

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109591
Gene: ENSMUSG00000079513
AA Change: V14A

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	6	95	4e-21	SMART
Pfam:SMK-1	166	357	2.1e-65	PFAM
low complexity region	400	414	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh3	C	A	2: 93,826,706 (GRCm39)	R165L	possibly damaging	Het
Arap3	A	G	18: 38,120,855 (GRCm39)	V730A	possibly damaging	Het
Arcn1	A	C	9: 44,662,614 (GRCm39)	I344S	probably damaging	Het
Ascc3	A	C	10: 50,643,470 (GRCm39)	D1807A	possibly damaging	Het
Atp2b3	A	G	X: 72,585,811 (GRCm39)	S615G	probably benign	Het
Ccdc40	A	G	11: 119,128,904 (GRCm39)	N450S	probably benign	Het
Cep41	T	C	6: 30,658,867 (GRCm39)	E160G	probably benign	Het
Cxxc1	T	C	18: 74,354,254 (GRCm39)	L654P	probably damaging	Het
Dusp29	T	A	14: 21,753,123 (GRCm39)	T8S	probably damaging	Het
Gnb4	C	T	3: 32,645,374 (GRCm39)	A106T	probably benign	Het
Gosr1	T	C	11: 76,645,603 (GRCm39)	N59S	probably benign	Het
Itgav	A	G	2: 83,622,283 (GRCm39)	T622A	probably benign	Het
Lamc2	A	G	1: 153,027,803 (GRCm39)	I207T	probably damaging	Het
Lce1c	C	A	3: 92,587,845 (GRCm39)		probably benign	Het
Mcm3ap	G	T	10: 76,342,255 (GRCm39)	D1583Y	probably damaging	Het
Mphosph9	A	T	5: 124,453,563 (GRCm39)	F220I	possibly damaging	Het
Or14j2	A	G	17: 37,885,912 (GRCm39)	V134A	possibly damaging	Het
Or2ag16	A	T	7: 106,352,559 (GRCm39)	F12Y	probably damaging	Het
Plcb1	T	G	2: 135,062,779 (GRCm39)		probably benign	Het
Polr3c	G	A	3: 96,624,002 (GRCm39)	T312M	probably damaging	Het
Ptpn12	G	T	5: 21,224,244 (GRCm39)	D116E	probably damaging	Het
Ptprb	A	G	10: 116,174,569 (GRCm39)	D747G	probably damaging	Het
Scn9a	A	G	2: 66,366,440 (GRCm39)		probably null	Het
Slit3	T	C	11: 35,591,172 (GRCm39)	V1328A	probably benign	Het
Sucla2	C	A	14: 73,819,246 (GRCm39)	S264Y	probably benign	Het
Tagln3	T	C	16: 45,544,596 (GRCm39)	D25G	probably benign	Het
Tbck	A	G	3: 132,480,247 (GRCm39)	T709A	probably benign	Het
Tead1	C	T	7: 112,460,663 (GRCm39)	A189V	probably benign	Het
Tmem234	A	G	4: 129,494,896 (GRCm39)	Q46R	probably damaging	Het
Trpm1	T	A	7: 63,868,881 (GRCm39)	L395Q	probably damaging	Het
Tti2	T	A	8: 31,645,942 (GRCm39)	W419R	probably damaging	Het
Vmn2r3	A	T	3: 64,194,816 (GRCm39)	M34K	probably benign	Het
Vps13c	G	T	9: 67,793,530 (GRCm39)		probably benign	Het
Zfp521	A	T	18: 13,977,987 (GRCm39)	Y809N	probably benign	Het

Other mutations in Ppp4r3c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02863:Ppp4r3c2	APN	X	88,796,429 (GRCm39)	missense	possibly damaging	0.77
IGL03179:Ppp4r3c2	APN	X	88,796,434 (GRCm39)	missense	possibly damaging	0.87
R0481:Ppp4r3c2	UTSW	X	88,796,299 (GRCm39)	missense	probably damaging	1.00
R0635:Ppp4r3c2	UTSW	X	88,796,128 (GRCm39)	utr 5 prime	probably benign
R0737:Ppp4r3c2	UTSW	X	88,797,926 (GRCm39)	missense	probably benign	0.27
R1416:Ppp4r3c2	UTSW	X	88,797,283 (GRCm39)	missense	probably benign	0.05
R3051:Ppp4r3c2	UTSW	X	88,797,709 (GRCm39)	missense	probably damaging	0.96
R8341:Ppp4r3c2	UTSW	X	88,798,322 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16