Mutagenetix > Incidental Mutation

Incidental Mutation 'R8692:Ppp2r5c'

668463

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r5c

Ensembl Gene

ENSMUSG00000017843

Gene Name

protein phosphatase 2, regulatory subunit B', gamma

Synonyms

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

MMRRC Submission

068546-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8692 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110413554-110549496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 110489032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 68 (V68L)

Ref Sequence

ENSEMBL: ENSMUSP00000152865 (fasta)

Gene Model

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

AlphaFold

Q60996

Predicted Effect

probably benign
Transcript: ENSMUST00000084985
AA Change: V68L

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000082053
Gene: ENSMUSG00000017843
AA Change: V68L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109832
AA Change: V68L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000105458
Gene: ENSMUSG00000017843
AA Change: V68L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220509
AA Change: V125L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000221074
AA Change: V68L

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000221715
AA Change: V68L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,327,874 (GRCm39)	I1402S	probably damaging	Het
Abca9	T	C	11: 110,032,409 (GRCm39)	D736G	probably benign	Het
Acy1	T	C	9: 106,310,377 (GRCm39)	E377G	probably damaging	Het
Apob	G	A	12: 8,058,270 (GRCm39)	V2251M	probably damaging	Het
Arhgap23	C	A	11: 97,345,322 (GRCm39)	T657K	probably damaging	Het
Cabin1	T	C	10: 75,587,410 (GRCm39)	K129R	probably benign	Het
Cdh24	A	T	14: 54,875,793 (GRCm39)	F259I	probably benign	Het
Cops6	A	G	5: 138,162,083 (GRCm39)	N307S	probably benign	Het
Cyp4a31	G	A	4: 115,423,769 (GRCm39)	V143M	probably damaging	Het
Deaf1	A	T	7: 140,877,444 (GRCm39)	I561K	probably benign	Het
Dnah7a	A	C	1: 53,472,175 (GRCm39)	S3531A	probably benign	Het
Dnajc14	T	A	10: 128,642,900 (GRCm39)	I274N	probably damaging	Het
Dnmt1	A	G	9: 20,853,077 (GRCm39)	L48S	probably damaging	Het
Efna4	A	T	3: 89,242,549 (GRCm39)	I115N	probably damaging	Het
Ermp1	T	A	19: 29,594,093 (GRCm39)	L692F	probably benign	Het
Fcho2	GT	G	13: 98,882,382 (GRCm39)		probably null	Het
Fcsk	A	T	8: 111,615,722 (GRCm39)	C536S	probably benign	Het
Fermt2	A	T	14: 45,742,099 (GRCm39)	C82*	probably null	Het
Gabra6	G	T	11: 42,210,537 (GRCm39)	D61E	probably damaging	Het
Gdpd4	T	A	7: 97,690,140 (GRCm39)	S611T	probably benign	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm17430	G	A	18: 9,726,336 (GRCm39)	A112V	probably benign	Het
Gm2381	A	T	7: 42,472,071 (GRCm39)	L2Q	probably damaging	Het
Hif3a	A	T	7: 16,788,701 (GRCm39)	L90Q	probably benign	Het
Irf3	C	T	7: 44,649,889 (GRCm39)	Q168*	probably null	Het
Krt82	T	G	15: 101,456,828 (GRCm39)	D184A	possibly damaging	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lrrc49	A	G	9: 60,594,445 (GRCm39)	S28P	probably damaging	Het
Mfsd11	T	A	11: 116,752,443 (GRCm39)	N197K	probably benign	Het
Mindy1	A	G	3: 95,199,587 (GRCm39)	D243G	probably damaging	Het
Mphosph9	A	T	5: 124,450,875 (GRCm39)	W299R	probably damaging	Het
Mst1r	G	T	9: 107,792,050 (GRCm39)	R862L	possibly damaging	Het
Nasp	T	A	4: 116,469,280 (GRCm39)		probably null	Het
Ncapg2	T	C	12: 116,414,049 (GRCm39)	I1073T	probably damaging	Het
Nek2	A	T	1: 191,554,745 (GRCm39)	K152N	probably benign	Het
Neurod2	T	C	11: 98,218,960 (GRCm39)	E68G	probably benign	Het
Or1j4	A	T	2: 36,740,096 (GRCm39)	I13F	probably benign	Het
Or2w3b	T	C	11: 58,623,595 (GRCm39)	Y132C	probably damaging	Het
P4ha3	T	A	7: 99,955,228 (GRCm39)	I361N	probably damaging	Het
Pcdh15	T	A	10: 74,289,805 (GRCm39)	S875T	possibly damaging	Het
Pde7b	G	T	10: 20,423,639 (GRCm39)	P79Q	probably benign	Het
Phb2	G	A	6: 124,692,097 (GRCm39)	A228T	probably damaging	Het
Piezo2	A	T	18: 63,225,971 (GRCm39)	C888*	probably null	Het
Pkhd1	A	T	1: 20,462,374 (GRCm39)	L2060Q	probably damaging	Het
Pms1	T	C	1: 53,246,052 (GRCm39)	M496V	probably benign	Het
Ppfibp1	C	T	6: 146,892,013 (GRCm39)	T91I	probably benign	Het
Ppp1r9b	T	C	11: 94,891,077 (GRCm39)	L557P	probably damaging	Het
Qrfp	T	A	2: 31,698,797 (GRCm39)	H45L	probably benign	Het
Rasgrp1	G	A	2: 117,115,353 (GRCm39)	T745I	probably damaging	Het
Rnf144a	G	A	12: 26,370,972 (GRCm39)	T163I	probably benign	Het
Sbsn	A	T	7: 30,451,522 (GRCm39)	H179L	unknown	Het
Simc1	G	A	13: 54,673,193 (GRCm39)	V514I	probably benign	Het
Slc35d1	A	G	4: 103,047,051 (GRCm39)	M249T		Het
Slfn4	T	A	11: 83,079,709 (GRCm39)	H466Q	possibly damaging	Het
Stab2	A	T	10: 86,808,794 (GRCm39)	C172S	probably damaging	Het
Tanc1	T	C	2: 59,673,989 (GRCm39)	I1698T	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tiam2	A	C	17: 3,479,082 (GRCm39)	D605A	probably damaging	Het
Tmed4	A	T	11: 6,223,822 (GRCm39)	D151E	probably benign	Het
Trim62	A	T	4: 128,794,465 (GRCm39)	I211F	possibly damaging	Het
Ttpa	A	G	4: 20,008,585 (GRCm39)	D49G	probably benign	Het
Usf3	T	C	16: 44,040,103 (GRCm39)	S1528P	probably benign	Het
Usp34	C	T	11: 23,379,325 (GRCm39)	T1991I		Het
Vash1	G	A	12: 86,735,863 (GRCm39)	V250M	possibly damaging	Het
Vmn1r199	T	C	13: 22,567,809 (GRCm39)	*368Q	probably null	Het
Vmn1r74	A	G	7: 11,580,972 (GRCm39)	T91A	probably benign	Het
Vmn1r8	T	C	6: 57,013,557 (GRCm39)	F203L	probably benign	Het
Vmn2r13	G	T	5: 109,319,514 (GRCm39)	Q489K	probably benign	Het
Vmn2r-ps158	G	T	7: 42,697,108 (GRCm39)	A722S	probably benign	Het
Zfp385b	A	T	2: 77,549,971 (GRCm39)	V38E	probably damaging	Het
Zfp820	A	G	17: 22,037,876 (GRCm39)	I484T	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
IGL01743:Ppp2r5c	APN	12	110,546,868 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- AATCGGAGGCTACGAGTGTC -3'
(R):5'- CAGAGGAGCTGTTTGCATTCG -3'

Sequencing Primer
(F):5'- AGGCTACGAGTGTCTCCCG -3'
(R):5'- AGGAGCTGTTTGCATTCGCTTAAC -3'

Posted On

2021-04-30