Mutagenetix > Incidental Mutations

Incidental Mutation 'R1697:Ppp2r5c'

192349

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r5c

Ensembl Gene

ENSMUSG00000017843

Gene Name

protein phosphatase 2, regulatory subunit B', gamma

Synonyms

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

MMRRC Submission

039730-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110447120-110583062 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 110545623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 145 (L145*)

Ref Sequence

ENSEMBL: ENSMUSP00000152865 (fasta)

Gene Model

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

AlphaFold

Q60996

Predicted Effect

probably null
Transcript: ENSMUST00000084985
AA Change: L145*

SMART Domains

Protein: ENSMUSP00000082053
Gene: ENSMUSG00000017843
AA Change: L145*

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

Predicted Effect

probably null
Transcript: ENSMUST00000109832
AA Change: L145*

SMART Domains

Protein: ENSMUSP00000105458
Gene: ENSMUSG00000017843
AA Change: L145*

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

Predicted Effect

probably null
Transcript: ENSMUST00000220509
AA Change: L202*

Predicted Effect

probably null
Transcript: ENSMUST00000221074
AA Change: L145*

Predicted Effect

probably null
Transcript: ENSMUST00000221715
AA Change: L145*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223168

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

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
4930486L24Rik	A	T	13: 60,845,114	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 125,369,029		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,154,347	C1579S	probably damaging	Het
Acsl3	T	C	1: 78,705,397		probably benign	Het
Acsl6	C	A	11: 54,329,966	T244K	probably damaging	Het
Adam26b	T	A	8: 43,520,963	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,517,611	T608M	probably damaging	Het
Aldh2	A	G	5: 121,578,341		probably null	Het
Alms1	A	G	6: 85,622,454	T1890A	possibly damaging	Het
C87977	A	C	4: 144,208,592	I193S	probably damaging	Het
Capn7	C	T	14: 31,360,160	T441M	probably damaging	Het
Cd9	A	T	6: 125,464,404	C85S	probably damaging	Het
Chrm3	T	C	13: 9,878,758	T81A	probably damaging	Het
Ctif	A	G	18: 75,624,305		probably benign	Het
Dcc	T	A	18: 71,370,737	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,679,780	V422A	probably damaging	Het
Enthd1	A	G	15: 80,452,923	S437P	probably damaging	Het
Fads1	A	G	19: 10,194,100		probably benign	Het
Fat3	T	A	9: 15,944,880	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,502,461	V85E	possibly damaging	Het
Fem1b	T	C	9: 62,797,174	D268G	possibly damaging	Het
Focad	T	C	4: 88,408,988	L1772P	probably damaging	Het
Gm9573	A	C	17: 35,620,648		probably benign	Het
Gm9833	G	A	3: 10,089,553	V461I	possibly damaging	Het
Gtf3a	C	A	5: 146,951,913	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,621,000		probably null	Het
Herc2	T	A	7: 56,153,905	F2229L	probably benign	Het
Hs3st4	A	T	7: 124,396,857	I249L	probably benign	Het
Iqsec1	A	T	6: 90,809,770	Y7*	probably null	Het
Klk1b1	T	A	7: 43,970,326	M103K	probably benign	Het
Krt5	A	G	15: 101,710,585	V287A	probably benign	Het
Lgals12	T	A	19: 7,604,165	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,604,940	V264A	possibly damaging	Het
Lrmp	A	G	6: 145,137,615		probably benign	Het
Lrp1b	T	C	2: 40,822,683	D3099G	probably damaging	Het
Mical3	G	A	6: 121,007,408	T169I	possibly damaging	Het
Myh7b	A	C	2: 155,620,134	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nsd1	A	T	13: 55,214,059		probably null	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr152	T	A	2: 87,782,585	I15N	possibly damaging	Het
Olfr190	A	G	16: 59,074,907	Y58H	probably damaging	Het
Olfr331	A	T	11: 58,501,676	S293R	probably damaging	Het
Olfr346	C	T	2: 36,688,247	L82F	probably damaging	Het
Olfr769	T	C	10: 129,111,868	T186A	probably benign	Het
Pcnx2	A	G	8: 125,850,348	Y982H	probably damaging	Het
Pias3	T	C	3: 96,702,225	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,376,884	P754S	probably damaging	Het
Proser3	T	C	7: 30,540,021	M553V	probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Smurf2	A	T	11: 106,824,688	D664E	possibly damaging	Het
Spag9	G	A	11: 93,996,565	A99T	probably benign	Het
Stim1	T	G	7: 102,354,506	C49G	probably damaging	Het
Stk32c	T	C	7: 139,121,824	I238V	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,544,899	E133V	probably null	Het
Tmem209	A	T	6: 30,497,868	C143S	probably benign	Het
Tnr	T	G	1: 159,852,030	N191K	probably benign	Het
Vars	C	T	17: 34,998,222	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,548,060	S819G	probably benign	Het
Wls	T	C	3: 159,897,358	V136A	probably benign	Het
Ybx2	C	T	11: 69,940,061	S217L	probably benign	Het
Zfp82	T	C	7: 30,057,354	D37G	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
IGL02883:Ppp2r5c	APN	12	110522563	missense	possibly damaging	0.48
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	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

Predicted Primers

PCR Primer
(F):5'- GCCATGAAAAGCACTGTGTGCC -3'
(R):5'- CCTCGCTGTCAAACAGCTCTAGAAG -3'

Sequencing Primer
(F):5'- TTATGCTAAGCCACAGAATTCAGC -3'
(R):5'- AGCTTTAAGAAAAATAAAACGGCAC -3'

Posted On

2014-05-14