Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02883:Ppp2r5c'

362869

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp2r5c

Ensembl Gene

ENSMUSG00000017843

Gene Name

protein phosphatase 2, regulatory subunit B', gamma

Synonyms

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

110447120-110583062 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 110522563 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 56 (V56G)

Ref Sequence

ENSEMBL: ENSMUSP00000152865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084985] [ENSMUST00000109832] [ENSMUST00000220509] [ENSMUST00000221074] [ENSMUST00000221715]

AlphaFold

Q60996

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084985
AA Change: V56G

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000082053
Gene: ENSMUSG00000017843
AA Change: V56G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109832
AA Change: V56G

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105458
Gene: ENSMUSG00000017843
AA Change: V56G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220509
AA Change: V113G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221074
AA Change: V56G

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221715
AA Change: V56G

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223168

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,716,972	S186R	possibly damaging	Het
Acap2	A	G	16: 31,096,345		probably benign	Het
Cacna1h	G	T	17: 25,380,532	R1726S	probably damaging	Het
Cdca2	T	C	14: 67,707,497	S133G	probably damaging	Het
Cep295nl	A	T	11: 118,333,909	S36R	probably benign	Het
Crispld1	A	G	1: 17,746,789	N190S	possibly damaging	Het
Crtam	A	G	9: 40,994,501	V44A	probably benign	Het
Crtc1	C	T	8: 70,406,125	G112S	probably benign	Het
Cyp17a1	T	C	19: 46,669,351	N254S	probably benign	Het
Dmrta1	T	C	4: 89,688,774	S156P	probably benign	Het
Eno2	A	C	6: 124,766,209	V188G	probably damaging	Het
Fam20a	A	T	11: 109,675,127	I427N	probably damaging	Het
Fat2	T	C	11: 55,256,618	K3933E	probably benign	Het
Gm15448	A	G	7: 3,822,180	S488P	possibly damaging	Het
Igkv8-30	T	C	6: 70,117,617	M1V	probably null	Het
Ist1	G	A	8: 109,683,668		probably benign	Het
Kank4	T	C	4: 98,773,453	E765G	possibly damaging	Het
Kat14	T	C	2: 144,393,529	L92S	probably damaging	Het
Kcnu1	G	A	8: 25,849,827	V58I	probably benign	Het
Lrba	T	A	3: 86,445,413	I1956N	probably damaging	Het
Lrba	T	A	3: 86,354,206	V1489E	probably damaging	Het
Mdn1	G	A	4: 32,763,199	V5100I	probably benign	Het
Mkrn2os	C	A	6: 115,586,709	G122*	probably null	Het
Nme3	T	C	17: 24,896,906	Y78H	probably benign	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Pramef25	T	C	4: 143,949,848	T229A	possibly damaging	Het
Prdm10	G	A	9: 31,327,348	V179M	probably damaging	Het
Rab11fip2	A	G	19: 59,906,998	V344A	probably damaging	Het
Selp	G	A	1: 164,130,102	A267T	probably benign	Het
Sf3a1	T	A	11: 4,179,192	W718R	probably damaging	Het
Taar9	T	C	10: 24,109,480	N19D	probably benign	Het
Tas2r113	T	G	6: 132,893,419	S137A	probably damaging	Het
Traf4	A	T	11: 78,161,621	I66N	possibly damaging	Het
Ucp3	A	T	7: 100,480,642	T164S	probably benign	Het
Uggt1	A	T	1: 36,177,615	N96K	probably benign	Het
Uqcc1	T	A	2: 155,911,829	Q42L	possibly damaging	Het
Vmn1r128	A	G	7: 21,349,515	K48R	probably benign	Het

Other mutations in Ppp2r5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Ppp2r5c	APN	12	110567827	missense	probably benign	0.09
IGL01743:Ppp2r5c	APN	12	110580434	missense	probably benign	0.00
IGL01866:Ppp2r5c	APN	12	110567827	missense	probably benign	0.24
IGL02944:Ppp2r5c	APN	12	110567800	missense	probably benign	0.02
Abscond	UTSW	12	110544077	missense	probably benign	0.02
Cranraisin	UTSW	12	110544145	missense	probably damaging	1.00
elope	UTSW	12	110561472	splice site	probably benign
FR4976:Ppp2r5c	UTSW	12	110540738	splice site	probably null
R0020:Ppp2r5c	UTSW	12	110574823	nonsense	probably null
R0069:Ppp2r5c	UTSW	12	110567770	missense	probably benign	0.01
R0069:Ppp2r5c	UTSW	12	110567770	missense	probably benign	0.01
R0456:Ppp2r5c	UTSW	12	110522579	missense	probably damaging	0.99
R1521:Ppp2r5c	UTSW	12	110554886	missense	probably damaging	1.00
R1697:Ppp2r5c	UTSW	12	110545623	nonsense	probably null
R1697:Ppp2r5c	UTSW	12	110561472	splice site	probably benign
R2248:Ppp2r5c	UTSW	12	110485923	missense	probably benign	0.00
R3817:Ppp2r5c	UTSW	12	110544187	critical splice donor site	probably null
R4491:Ppp2r5c	UTSW	12	110580522	missense	possibly damaging	0.69
R5575:Ppp2r5c	UTSW	12	110552832	missense	probably damaging	1.00
R5828:Ppp2r5c	UTSW	12	110570700	missense	probably benign	0.01
R6059:Ppp2r5c	UTSW	12	110574788	missense	probably benign
R6351:Ppp2r5c	UTSW	12	110554879	missense	probably damaging	1.00
R6807:Ppp2r5c	UTSW	12	110569022	missense	possibly damaging	0.80
R6976:Ppp2r5c	UTSW	12	110544145	missense	probably damaging	1.00
R7236:Ppp2r5c	UTSW	12	110465889	missense	probably benign	0.01
R7360:Ppp2r5c	UTSW	12	110574838	missense	probably benign
R7363:Ppp2r5c	UTSW	12	110522607	missense	probably benign	0.01
R7467:Ppp2r5c	UTSW	12	110552883	missense	probably damaging	1.00
R7948:Ppp2r5c	UTSW	12	110465986	missense	probably benign
R8117:Ppp2r5c	UTSW	12	110551085	missense	possibly damaging	0.47
R8310:Ppp2r5c	UTSW	12	110545825	missense	possibly damaging	0.95
R8352:Ppp2r5c	UTSW	12	110544077	missense	probably benign	0.02
R8452:Ppp2r5c	UTSW	12	110544077	missense	probably benign	0.02
R8692:Ppp2r5c	UTSW	12	110522598	missense	probably benign	0.00
R8858:Ppp2r5c	UTSW	12	110552895	critical splice donor site	probably null
R9108:Ppp2r5c	UTSW	12	110554869	missense	probably damaging	1.00

Posted On

2015-12-18