Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01743:Ppp2r5c'

152905

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp2r5c

Ensembl Gene

ENSMUSG00000017843

Gene Name

protein phosphatase 2, regulatory subunit B', gamma

Synonyms

2610043M05Rik, D12Bwg0916e, B56/PP2A gamma, Band 8A, 2700063L20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01743

Quality Score

Status

Chromosome

Chromosomal Location

110413554-110549496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110546868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 454 (V454M)

Ref Sequence

ENSEMBL: ENSMUSP00000105458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084985] [ENSMUST00000109832] [ENSMUST00000221074]

AlphaFold

Q60996

Predicted Effect

probably benign
Transcript: ENSMUST00000084985
AA Change: V493M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000082053
Gene: ENSMUSG00000017843
AA Change: V493M

Domain	Start	End	E-Value	Type
Pfam:B56	27	437	1.6e-199	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109832
AA Change: V454M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105458
Gene: ENSMUSG00000017843
AA Change: V454M

Domain	Start	End	E-Value	Type
Pfam:B56	26	438	3e-178	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000221074

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene-trapped allele show partial neonatal lethality, hypoactivity, and abnormal ventricular septum formation associated with increased fetal cardiomyocyte apoptosis. Surviving homozygotes develop obesity and show an abnormal gait, decreased grip strength, and impaired balance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 45,646,238 (GRCm39)	N750K	probably benign	Het
Ackr2	T	C	9: 121,738,566 (GRCm39)	C314R	probably benign	Het
Adar	C	T	3: 89,652,747 (GRCm39)	Q210*	probably null	Het
Aifm1	A	G	X: 47,569,153 (GRCm39)		probably benign	Het
Aldoa	G	T	7: 126,395,875 (GRCm39)	D198E	probably damaging	Het
Ampd1	T	A	3: 103,002,201 (GRCm39)		probably benign	Het
Arhgef18	G	T	8: 3,414,697 (GRCm39)	C25F	probably benign	Het
Btnl1	T	C	17: 34,604,659 (GRCm39)	I480T	probably damaging	Het
Capn9	T	C	8: 125,318,508 (GRCm39)	S125P	probably benign	Het
Cd40lg	T	A	X: 56,257,592 (GRCm39)	Y26*	probably null	Het
Cdc42bpg	G	T	19: 6,359,853 (GRCm39)		probably null	Het
Cdh10	T	C	15: 18,986,855 (GRCm39)	L362P	probably benign	Het
Dhx16	A	G	17: 36,199,000 (GRCm39)	D782G	probably damaging	Het
Dnajb14	G	T	3: 137,611,761 (GRCm39)	V320L	possibly damaging	Het
Dpy19l1	C	T	9: 24,396,365 (GRCm39)	R117Q	probably damaging	Het
Ercc6	T	C	14: 32,274,561 (GRCm39)	V568A	probably damaging	Het
Faf2	T	C	13: 54,789,311 (GRCm39)		probably null	Het
Fbrsl1	C	T	5: 110,529,506 (GRCm39)	V223M	probably damaging	Het
Fcrl5	T	C	3: 87,351,598 (GRCm39)	V282A	probably damaging	Het
Fxr2	C	T	11: 69,543,448 (GRCm39)	L650F	possibly damaging	Het
Gabrq	A	G	X: 71,880,448 (GRCm39)	M314V	probably benign	Het
Gnas	T	A	2: 174,140,125 (GRCm39)	Y157*	probably null	Het
Gtf2i	T	C	5: 134,315,747 (GRCm39)	E175G	probably damaging	Het
Gtf3c1	A	C	7: 125,262,587 (GRCm39)	Y1091D	probably damaging	Het
Heatr5b	G	A	17: 79,132,069 (GRCm39)	Q345*	probably null	Het
Hydin	T	C	8: 111,319,408 (GRCm39)	V4437A	possibly damaging	Het
Idi2	T	A	13: 9,008,578 (GRCm39)	L112Q	probably damaging	Het
Ift80	C	T	3: 68,869,629 (GRCm39)	V221M	probably benign	Het
Il16	A	G	7: 83,301,507 (GRCm39)	F205S	probably benign	Het
Irf1	T	A	11: 53,665,277 (GRCm39)	M218K	probably benign	Het
Itga8	T	C	2: 12,270,144 (GRCm39)	N114S	probably benign	Het
Itgae	T	C	11: 73,002,585 (GRCm39)	V114A	probably benign	Het
Klhdc10	A	G	6: 30,441,933 (GRCm39)		probably null	Het
Krt78	C	A	15: 101,859,333 (GRCm39)	R288L	probably benign	Het
Lars2	A	T	9: 123,282,313 (GRCm39)	L632F	probably damaging	Het
Mpdz	T	C	4: 81,235,919 (GRCm39)	D1220G	probably damaging	Het
Msl1	C	T	11: 98,696,245 (GRCm39)	T597I	probably damaging	Het
Mtor	T	C	4: 148,615,070 (GRCm39)		probably benign	Het
Myo1b	T	C	1: 51,821,179 (GRCm39)	T435A	probably damaging	Het
Neb	A	G	2: 52,115,679 (GRCm39)	Y4176H	probably damaging	Het
Nxpe3	A	G	16: 55,670,128 (GRCm39)	F326L	probably benign	Het
Or13a21	T	C	7: 139,999,581 (GRCm39)	Y35C	probably damaging	Het
Or2ag1	A	G	7: 106,313,541 (GRCm39)	S116P	possibly damaging	Het
Pak5	T	A	2: 135,929,333 (GRCm39)	R617W	probably damaging	Het
Peak1	C	A	9: 56,166,486 (GRCm39)	V481L	probably damaging	Het
Pik3ap1	G	A	19: 41,281,267 (GRCm39)		probably benign	Het
Pmm1	C	T	15: 81,844,987 (GRCm39)	E6K	probably benign	Het
Ptprf	C	T	4: 118,106,095 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,443,024 (GRCm39)		probably null	Het
Rimbp2	T	A	5: 128,874,912 (GRCm39)		probably benign	Het
Rps6ka5	A	T	12: 100,541,892 (GRCm39)		probably null	Het
Scarb2	A	G	5: 92,608,662 (GRCm39)	V188A	probably benign	Het
Sfrp1	T	A	8: 23,902,354 (GRCm39)		probably benign	Het
Siglec15	T	A	18: 78,086,820 (GRCm39)		probably benign	Het
Smgc	A	G	15: 91,738,796 (GRCm39)	I485V	probably benign	Het
Tas2r124	A	G	6: 132,731,798 (GRCm39)	I36V	probably benign	Het
Trmt10b	G	T	4: 45,305,879 (GRCm39)	G185W	probably damaging	Het
Ttll4	A	G	1: 74,727,352 (GRCm39)	N798S	possibly damaging	Het
Ttn	G	T	2: 76,619,896 (GRCm39)	T15924N	probably damaging	Het
Utrn	A	T	10: 12,587,301 (GRCm39)	Y912N	possibly damaging	Het
Vmn2r113	T	C	17: 23,177,285 (GRCm39)	Y690H	probably benign	Het
Vmn2r51	T	C	7: 9,834,154 (GRCm39)	R295G	probably damaging	Het
Vpreb3	A	G	10: 75,784,231 (GRCm39)	T14A	probably benign	Het

Other mutations in Ppp2r5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Ppp2r5c	APN	12	110,534,261 (GRCm39)	missense	probably benign	0.09
IGL01866:Ppp2r5c	APN	12	110,534,261 (GRCm39)	missense	probably benign	0.24
IGL02883:Ppp2r5c	APN	12	110,488,997 (GRCm39)	missense	possibly damaging	0.48
IGL02944:Ppp2r5c	APN	12	110,534,234 (GRCm39)	missense	probably benign	0.02
Abscond	UTSW	12	110,510,511 (GRCm39)	missense	probably benign	0.02
Cranraisin	UTSW	12	110,510,579 (GRCm39)	missense	probably damaging	1.00
elope	UTSW	12	110,527,906 (GRCm39)	splice site	probably benign
FR4976:Ppp2r5c	UTSW	12	110,507,172 (GRCm39)	splice site	probably null
R0020:Ppp2r5c	UTSW	12	110,541,257 (GRCm39)	nonsense	probably null
R0069:Ppp2r5c	UTSW	12	110,534,204 (GRCm39)	missense	probably benign	0.01
R0069:Ppp2r5c	UTSW	12	110,534,204 (GRCm39)	missense	probably benign	0.01
R0456:Ppp2r5c	UTSW	12	110,489,013 (GRCm39)	missense	probably damaging	0.99
R1521:Ppp2r5c	UTSW	12	110,521,320 (GRCm39)	missense	probably damaging	1.00
R1697:Ppp2r5c	UTSW	12	110,527,906 (GRCm39)	splice site	probably benign
R1697:Ppp2r5c	UTSW	12	110,512,057 (GRCm39)	nonsense	probably null
R2248:Ppp2r5c	UTSW	12	110,452,357 (GRCm39)	missense	probably benign	0.00
R3817:Ppp2r5c	UTSW	12	110,510,621 (GRCm39)	critical splice donor site	probably null
R4491:Ppp2r5c	UTSW	12	110,546,956 (GRCm39)	missense	possibly damaging	0.69
R5575:Ppp2r5c	UTSW	12	110,519,266 (GRCm39)	missense	probably damaging	1.00
R5828:Ppp2r5c	UTSW	12	110,537,134 (GRCm39)	missense	probably benign	0.01
R6059:Ppp2r5c	UTSW	12	110,541,222 (GRCm39)	missense	probably benign
R6351:Ppp2r5c	UTSW	12	110,521,313 (GRCm39)	missense	probably damaging	1.00
R6807:Ppp2r5c	UTSW	12	110,535,456 (GRCm39)	missense	possibly damaging	0.80
R6976:Ppp2r5c	UTSW	12	110,510,579 (GRCm39)	missense	probably damaging	1.00
R7236:Ppp2r5c	UTSW	12	110,432,323 (GRCm39)	missense	probably benign	0.01
R7360:Ppp2r5c	UTSW	12	110,541,272 (GRCm39)	missense	probably benign
R7363:Ppp2r5c	UTSW	12	110,489,041 (GRCm39)	missense	probably benign	0.01
R7467:Ppp2r5c	UTSW	12	110,519,317 (GRCm39)	missense	probably damaging	1.00
R7948:Ppp2r5c	UTSW	12	110,432,420 (GRCm39)	missense	probably benign
R8117:Ppp2r5c	UTSW	12	110,517,519 (GRCm39)	missense	possibly damaging	0.47
R8310:Ppp2r5c	UTSW	12	110,512,259 (GRCm39)	missense	possibly damaging	0.95
R8352:Ppp2r5c	UTSW	12	110,510,511 (GRCm39)	missense	probably benign	0.02
R8452:Ppp2r5c	UTSW	12	110,510,511 (GRCm39)	missense	probably benign	0.02
R8692:Ppp2r5c	UTSW	12	110,489,032 (GRCm39)	missense	probably benign	0.00
R8858:Ppp2r5c	UTSW	12	110,519,329 (GRCm39)	critical splice donor site	probably null
R9108:Ppp2r5c	UTSW	12	110,521,303 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04