Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01860:Ppm1j'

178279

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppm1j

Ensembl Gene

ENSMUSG00000002228

Gene Name

protein phosphatase 1J

Synonyms

2310008J22Rik, PP2Czeta, Ppp2cz

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01860

Quality Score

Status

Chromosome

Chromosomal Location

104688372-104693334 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104691408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 299 (T299A)

Ref Sequence

ENSEMBL: ENSMUSP00000002298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002298] [ENSMUST00000002303] [ENSMUST00000106787] [ENSMUST00000176347] [ENSMUST00000196817]

AlphaFold

Q149T7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002298
AA Change: T299A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002298
Gene: ENSMUSG00000002228
AA Change: T299A

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
PP2Cc	93	497	1.44e-32	SMART
PP2C_SIG	119	499	1.51e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000002303

SMART Domains

Protein: ENSMUSP00000002303
Gene: ENSMUSG00000002233

Domain	Start	End	E-Value	Type
RHO	8	181	9.45e-130	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106787

SMART Domains

Protein: ENSMUSP00000102399
Gene: ENSMUSG00000002233

Domain	Start	End	E-Value	Type
RHO	8	181	9.45e-130	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162644

Predicted Effect

probably benign
Transcript: ENSMUST00000176347

SMART Domains

Protein: ENSMUSP00000135659
Gene: ENSMUSG00000002233

Domain	Start	End	E-Value	Type
RHO	8	148	7.45e-87	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196817

SMART Domains

Protein: ENSMUSP00000142697
Gene: ENSMUSG00000002233

Domain	Start	End	E-Value	Type
RHO	8	181	9.45e-130	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197264

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the serine/threonine protein phosphatase. The mouse homolog of this gene apparently belongs to the protein phosphatase 2C family of genes. The exact function of this gene is not yet known. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,853,914 (GRCm39)	N248Y	possibly damaging	Het
Adamts13	G	A	2: 26,868,023 (GRCm39)	V128M	probably damaging	Het
Agl	A	T	3: 116,566,175 (GRCm39)		probably benign	Het
Arfgef1	A	T	1: 10,224,621 (GRCm39)	M1405K	probably damaging	Het
Atp6v1a	G	T	16: 43,920,319 (GRCm39)	L426M	probably damaging	Het
Calhm6	A	G	10: 34,002,561 (GRCm39)	V174A	probably damaging	Het
Cdc123	A	G	2: 5,808,752 (GRCm39)		probably benign	Het
Cept1	A	G	3: 106,438,444 (GRCm39)		probably benign	Het
Cipc	T	A	12: 87,007,047 (GRCm39)	D60E	probably damaging	Het
Efcab3	T	C	11: 104,581,747 (GRCm39)	S30P	probably benign	Het
Exosc3	A	G	4: 45,319,659 (GRCm39)	I121T	probably benign	Het
Fbln5	A	G	12: 101,776,128 (GRCm39)	Y89H	probably damaging	Het
Fhod3	T	C	18: 25,030,738 (GRCm39)	F128L	probably damaging	Het
Fhod3	T	A	18: 25,037,005 (GRCm39)	I154N	probably damaging	Het
Fpgt	T	C	3: 154,792,483 (GRCm39)	T515A	probably benign	Het
Gas2l2	G	A	11: 83,312,906 (GRCm39)	T802I	probably benign	Het
Gm10710	T	A	3: 83,035,156 (GRCm39)		probably benign	Het
Hdac4	A	G	1: 91,861,417 (GRCm39)	M1051T	probably benign	Het
Heatr5b	A	G	17: 79,115,909 (GRCm39)	V849A	probably damaging	Het
Helb	T	C	10: 119,938,738 (GRCm39)	I579V	probably damaging	Het
Hspa1l	A	G	17: 35,197,787 (GRCm39)	I609V	probably benign	Het
Itgam	C	A	7: 127,670,115 (GRCm39)	Q136K	probably benign	Het
Kcnc1	T	C	7: 46,077,554 (GRCm39)	L452P	probably damaging	Het
Ltbp4	T	A	7: 27,019,071 (GRCm39)	T1083S	probably damaging	Het
Mki67	T	C	7: 135,300,686 (GRCm39)	I1449M	probably damaging	Het
Nalf1	A	T	8: 9,257,831 (GRCm39)	V439E	probably damaging	Het
P2rx5	T	A	11: 73,056,385 (GRCm39)	V103E	probably damaging	Het
Pals1	T	C	12: 78,877,681 (GRCm39)	V531A	possibly damaging	Het
Pappa	A	G	4: 65,123,329 (GRCm39)	D888G	possibly damaging	Het
Pcdhb21	G	T	18: 37,647,958 (GRCm39)	M362I	probably benign	Het
Pde1a	A	G	2: 79,705,628 (GRCm39)	S333P	probably damaging	Het
Pramel46	G	A	5: 95,418,510 (GRCm39)	T162I	probably benign	Het
Ptdss2	A	G	7: 140,732,749 (GRCm39)	E168G	probably damaging	Het
Rspry1	A	G	8: 95,376,444 (GRCm39)	N322S	probably benign	Het
Slc7a9	T	A	7: 35,156,485 (GRCm39)	V309E	probably damaging	Het
Slco6c1	A	G	1: 97,003,548 (GRCm39)		probably benign	Het
Tas2r120	T	A	6: 132,634,227 (GRCm39)	M103K	probably damaging	Het
Tbxas1	T	A	6: 38,925,561 (GRCm39)	F59I	probably damaging	Het
Tfpi	A	G	2: 84,274,378 (GRCm39)	S203P	probably benign	Het
Tram2	T	C	1: 21,074,083 (GRCm39)	N285S	possibly damaging	Het
Trio	T	A	15: 27,846,896 (GRCm39)	D980V	probably damaging	Het
Trpv5	T	A	6: 41,637,229 (GRCm39)	H419L	probably damaging	Het
Usp28	C	T	9: 48,943,543 (GRCm39)	R361*	probably null	Het
Vmn1r6	T	A	6: 56,979,674 (GRCm39)	L112*	probably null	Het
Vmn2r12	A	T	5: 109,240,025 (GRCm39)	N179K	probably benign	Het
Vmn2r82	G	T	10: 79,214,691 (GRCm39)	A225S	probably benign	Het
Zcchc4	A	G	5: 52,965,698 (GRCm39)	Y334C	probably damaging	Het
Zfp609	T	C	9: 65,610,116 (GRCm39)	E949G	possibly damaging	Het

Other mutations in Ppm1j

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03088:Ppm1j	APN	3	104,692,725 (GRCm39)	nonsense	probably null
R0350:Ppm1j	UTSW	3	104,690,687 (GRCm39)	missense	probably benign	0.01
R5042:Ppm1j	UTSW	3	104,690,036 (GRCm39)	missense	probably null	0.67
R5113:Ppm1j	UTSW	3	104,691,990 (GRCm39)	missense	possibly damaging	0.80
R5870:Ppm1j	UTSW	3	104,692,811 (GRCm39)	missense	possibly damaging	0.95
R6145:Ppm1j	UTSW	3	104,688,695 (GRCm39)	missense	probably damaging	0.99
R6221:Ppm1j	UTSW	3	104,693,092 (GRCm39)	missense	possibly damaging	0.95
R6458:Ppm1j	UTSW	3	104,688,560 (GRCm39)	missense	probably benign
R6695:Ppm1j	UTSW	3	104,692,802 (GRCm39)	missense	probably damaging	1.00
R7084:Ppm1j	UTSW	3	104,692,276 (GRCm39)	missense	probably damaging	0.99
R7323:Ppm1j	UTSW	3	104,691,429 (GRCm39)	missense	probably damaging	1.00
R7617:Ppm1j	UTSW	3	104,691,059 (GRCm39)	nonsense	probably null
R9301:Ppm1j	UTSW	3	104,691,057 (GRCm39)	missense	probably damaging	1.00
R9513:Ppm1j	UTSW	3	104,693,134 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07