Mutagenetix > Incidental Mutation

Incidental Mutation 'R6351:Ppp2r5c'

514277

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110413554-110549496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110521313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 279 (S279C)

Ref Sequence

ENSEMBL: ENSMUSP00000152865 (fasta)

Gene Model

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

AlphaFold

Q60996

Predicted Effect

probably damaging
Transcript: ENSMUST00000084985
AA Change: S279C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082053
Gene: ENSMUSG00000017843
AA Change: S279C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109832
AA Change: S279C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105458
Gene: ENSMUSG00000017843
AA Change: S279C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220509

Predicted Effect

probably damaging
Transcript: ENSMUST00000221074
AA Change: S279C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221715
AA Change: S279C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223168

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

99% (95/96)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1a	C	A	9: 119,170,630 (GRCm39)	S17*	probably null	Het
Adamts16	T	A	13: 70,984,322 (GRCm39)	S114C	probably damaging	Het
Agpat5	T	C	8: 18,896,724 (GRCm39)	V50A	probably benign	Het
Agrn	T	C	4: 156,263,891 (GRCm39)	N124S	probably benign	Het
Ak8	T	C	2: 28,625,638 (GRCm39)	I227T	probably benign	Het
Akap6	A	G	12: 53,188,808 (GRCm39)	E2074G	probably damaging	Het
Apc	T	A	18: 34,445,265 (GRCm39)	S702R	probably damaging	Het
Ascc3	T	C	10: 50,596,769 (GRCm39)	I1233T	probably damaging	Het
Asphd2	A	T	5: 112,533,698 (GRCm39)	F318I	probably damaging	Het
Bltp1	G	A	3: 36,962,377 (GRCm39)	A493T	probably damaging	Het
Bnc2	T	C	4: 84,211,380 (GRCm39)	T397A	probably benign	Het
Bpifb4	C	T	2: 153,799,054 (GRCm39)	T528I	probably damaging	Het
Brinp3	A	G	1: 146,777,323 (GRCm39)	E590G	probably damaging	Het
Ccdc149	A	G	5: 52,542,477 (GRCm39)	S372P	probably benign	Het
Cdhr2	A	G	13: 54,874,589 (GRCm39)	H887R	probably benign	Het
Clcn6	C	T	4: 148,101,957 (GRCm39)	V376I	probably benign	Het
Cntln	T	G	4: 85,033,591 (GRCm39)	C1305W	probably damaging	Het
Cspg4	A	G	9: 56,799,928 (GRCm39)	D1564G	probably benign	Het
Cux1	A	T	5: 136,338,646 (GRCm39)	S582T	probably damaging	Het
Cwh43	G	A	5: 73,569,248 (GRCm39)	A97T	possibly damaging	Het
Dsc1	A	T	18: 20,219,826 (GRCm39)	F781L	probably damaging	Het
Dsc3	G	T	18: 20,099,348 (GRCm39)	H723N	probably benign	Het
Ear10	A	T	14: 44,160,512 (GRCm39)	V105D	probably damaging	Het
Ecel1	A	G	1: 87,077,231 (GRCm39)	V659A	possibly damaging	Het
Eogt	A	T	6: 97,097,155 (GRCm39)	F316I	probably damaging	Het
Etaa1	T	C	11: 17,897,188 (GRCm39)	N310D	possibly damaging	Het
Exoc3l2	G	A	7: 19,203,633 (GRCm39)	R75Q	possibly damaging	Het
Fam186a	A	C	15: 99,839,623 (GRCm39)	L2207R	probably damaging	Het
Fam187b	T	C	7: 30,677,024 (GRCm39)	Y178H	probably damaging	Het
Fat1	A	T	8: 45,486,532 (GRCm39)	Q3362L	probably damaging	Het
Fat3	A	T	9: 15,849,694 (GRCm39)	S3903T	probably damaging	Het
Fsip2	G	A	2: 82,823,028 (GRCm39)	V6254I	possibly damaging	Het
Gabra5	T	C	7: 57,063,528 (GRCm39)	T299A	probably damaging	Het
Gbp11	T	C	5: 105,475,464 (GRCm39)	T295A	probably benign	Het
Glcci1	C	T	6: 8,573,203 (GRCm39)	Q44*	probably null	Het
Gpc5	A	T	14: 115,636,612 (GRCm39)	T432S	probably benign	Het
Grhl1	G	A	12: 24,634,857 (GRCm39)	E228K	probably damaging	Het
Hyal5	T	C	6: 24,891,708 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ints9	A	G	14: 65,230,456 (GRCm39)	I128V	probably damaging	Het
Kcnt2	A	T	1: 140,302,850 (GRCm39)	N130I	probably damaging	Het
Krba1	T	C	6: 48,391,062 (GRCm39)	V717A	probably benign	Het
Lrp12	T	A	15: 39,741,584 (GRCm39)	D377V	probably damaging	Het
Magi1	G	T	6: 93,920,210 (GRCm39)	D135E	possibly damaging	Het
Map10	T	A	8: 126,397,984 (GRCm39)	L459Q	probably damaging	Het
Mitf	A	G	6: 97,980,873 (GRCm39)	D238G	possibly damaging	Het
Ms4a19	C	T	19: 11,119,765 (GRCm39)	G14D	probably damaging	Het
Mylk	G	T	16: 34,742,341 (GRCm39)	R951L	probably benign	Het
Nacad	T	A	11: 6,549,235 (GRCm39)	D1272V	probably damaging	Het
Nacad	T	A	11: 6,550,165 (GRCm39)	K1009*	probably null	Het
Ncor1	T	C	11: 62,264,124 (GRCm39)	D786G	probably benign	Het
Oas2	G	A	5: 120,886,603 (GRCm39)	R188C	probably benign	Het
Odf2l	A	G	3: 144,841,479 (GRCm39)	I300V	probably benign	Het
Or1j10	T	A	2: 36,267,208 (GRCm39)	V140D	possibly damaging	Het
Or51b17	A	T	7: 103,542,342 (GRCm39)	L200*	probably null	Het
Or51v8	A	G	7: 103,320,163 (GRCm39)	I25T	possibly damaging	Het
Or5p60	A	G	7: 107,723,637 (GRCm39)	S278P	probably damaging	Het
Or9i1	A	G	19: 13,839,186 (GRCm39)	T10A	probably benign	Het
Pes1	T	A	11: 3,928,865 (GRCm39)	D574E	probably benign	Het
Phf20	C	T	2: 156,136,130 (GRCm39)	R650C	possibly damaging	Het
Pias4	G	A	10: 80,993,098 (GRCm39)	T248I	probably damaging	Het
Pkhd1	T	C	1: 20,282,175 (GRCm39)	T2889A	probably benign	Het
Plcxd1	C	A	5: 110,250,033 (GRCm39)		probably null	Het
Plekha7	A	G	7: 115,776,133 (GRCm39)	F194L	probably damaging	Het
Plxnb2	T	C	15: 89,041,973 (GRCm39)	N1642S	possibly damaging	Het
Pnpla7	A	T	2: 24,901,576 (GRCm39)	D534V	probably damaging	Het
Ptprq	T	A	10: 107,544,529 (GRCm39)	T334S	probably damaging	Het
Rab39	T	C	9: 53,597,821 (GRCm39)	D148G	probably benign	Het
Reep3	A	T	10: 66,870,432 (GRCm39)	F121L	probably benign	Het
Reln	G	T	5: 22,106,661 (GRCm39)	C3236*	probably null	Het
Rrp8	C	T	7: 105,384,016 (GRCm39)	C162Y	probably damaging	Het
Scrib	C	A	15: 75,936,835 (GRCm39)	Q399H	possibly damaging	Het
Sertad1	T	A	7: 27,189,224 (GRCm39)	Y182N	possibly damaging	Het
Sfrp5	A	G	19: 42,190,263 (GRCm39)	V63A	possibly damaging	Het
Shoc1	T	C	4: 59,069,317 (GRCm39)	D703G	probably benign	Het
Slc46a1	T	C	11: 78,357,985 (GRCm39)	M346T	probably benign	Het
Sycp2	A	G	2: 178,005,209 (GRCm39)	L886S	probably damaging	Het
Teddm1b	A	T	1: 153,750,505 (GRCm39)	I105F	probably benign	Het
Thumpd1	A	T	7: 119,319,828 (GRCm39)	I46N	possibly damaging	Het
Tmod4	A	G	3: 95,035,164 (GRCm39)	N223S	probably damaging	Het
Tnfrsf10b	G	C	14: 70,010,850 (GRCm39)	C85S	probably damaging	Het
Tox	T	C	4: 6,697,439 (GRCm39)	T455A	probably benign	Het
Tox	T	C	4: 6,741,536 (GRCm39)	Q148R	probably benign	Het
Trp53bp1	A	C	2: 121,100,426 (GRCm39)	S109R	probably damaging	Het
Tshz2	A	T	2: 169,726,888 (GRCm39)	T26S	probably benign	Het
Tubb4a	T	A	17: 57,388,016 (GRCm39)	N337Y	probably damaging	Het
Tubb6	T	A	18: 67,534,458 (GRCm39)	V119E	probably damaging	Het
Unk	C	T	11: 115,945,772 (GRCm39)	T481I	probably benign	Het
Vmn2r112	C	T	17: 22,820,259 (GRCm39)	T44I	probably benign	Het
Vstm5	G	A	9: 15,168,829 (GRCm39)	G131D	probably damaging	Het
Wscd1	T	C	11: 71,650,709 (GRCm39)	L12P	probably damaging	Het
Zfp369	T	A	13: 65,444,044 (GRCm39)	S396T	possibly damaging	Het
Zfp932	T	A	5: 110,157,209 (GRCm39)	C302*	probably null	Het
Zfp972	A	T	2: 177,548,728 (GRCm39)		probably null	Het
Zfyve21	C	A	12: 111,794,028 (GRCm39)	A212E	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
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

Predicted Primers

PCR Primer
(F):5'- TCTGTCACAAAGAGATCGGGG -3'
(R):5'- ACATAACCTTCACTGCGGCG -3'

Sequencing Primer
(F):5'- GAATTATCCAGTGAGCATCCGTC -3'
(R):5'- TTCACTGCGGCGAAGGAAC -3'

Posted On

2018-04-27