Mutagenetix > Incidental Mutation

Incidental Mutation 'R7420:Ppp2r5d'

575635

Institutional Source

Beutler Lab

Gene Symbol

Ppp2r5d

Ensembl Gene

ENSMUSG00000059409

Gene Name

protein phosphatase 2, regulatory subunit B', delta

Synonyms

TEG-271, Tex271, B'delta

MMRRC Submission

045498-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R7420 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46993917-47015952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46998507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 121 (F121L)

Ref Sequence

ENSEMBL: ENSMUSP00000002839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002839] [ENSMUST00000002845]

AlphaFold

Q7TNL5

Predicted Effect

probably null
Transcript: ENSMUST00000002839
AA Change: F121L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002839
Gene: ENSMUSG00000059409
AA Change: F121L

Domain	Start	End	E-Value	Type
low complexity region	37	59	N/A	INTRINSIC
Pfam:B56	95	505	6.2e-201	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000002845

SMART Domains

Protein: ENSMUSP00000002845
Gene: ENSMUSG00000002768

Domain	Start	End	E-Value	Type
Pfam:MEA1	1	174	1.6e-121	PFAM

Meta Mutation Damage Score

0.4364

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

95% (54/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene-trap allele exhibit lethality, while heterozygous mice display decreased prepulse inhibition. Mice homozygous for a targeted knock-out allele exhibit decreased thermal nociception threshold, impaired coordination, and increasedlatency to removing an adhesive sticker. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,141,303 (GRCm39)	V6A	probably benign	Het
Adam29	T	A	8: 56,325,933 (GRCm39)	M174L	probably benign	Het
Ano1	G	A	7: 144,209,378 (GRCm39)	T274I	probably benign	Het
Atad5	A	T	11: 79,986,688 (GRCm39)	T592S	probably benign	Het
Bud13	C	T	9: 46,199,113 (GRCm39)	P158L	probably benign	Het
Card19	T	C	13: 49,361,613 (GRCm39)	Y6C	probably damaging	Het
Cd36	C	G	5: 17,993,272 (GRCm39)	V393L	probably benign	Het
Cd79a	A	T	7: 24,596,971 (GRCm39)	R9*	probably null	Het
Cep164	T	C	9: 45,679,840 (GRCm39)	H1131R	probably benign	Het
Chia1	T	A	3: 106,037,980 (GRCm39)	S321T	probably benign	Het
Chrnd	T	A	1: 87,122,543 (GRCm39)	V217E	possibly damaging	Het
Cmtm7	T	C	9: 114,592,462 (GRCm39)		probably null	Het
Csn1s2a	T	C	5: 87,927,865 (GRCm39)	S60P	possibly damaging	Het
Defa30	T	A	8: 21,625,471 (GRCm39)	N78K	probably benign	Het
Dnah2	C	T	11: 69,369,623 (GRCm39)	A1618T	possibly damaging	Het
Dnah9	A	G	11: 66,008,233 (GRCm39)		probably null	Het
Epn1	A	T	7: 5,100,687 (GRCm39)	T546S	possibly damaging	Het
Fam135a	A	G	1: 24,051,567 (GRCm39)	S1443P	possibly damaging	Het
Fam13b	G	T	18: 34,627,664 (GRCm39)	P179Q	probably damaging	Het
Git2	T	C	5: 114,868,431 (GRCm39)	T647A	probably benign	Het
Gli2	T	C	1: 118,763,669 (GRCm39)	N1494S	probably benign	Het
Gm4952	G	A	19: 12,604,265 (GRCm39)	G226R	probably damaging	Het
Gm5460	T	A	14: 33,758,714 (GRCm39)	F156I	probably damaging	Het
Heatr5b	A	T	17: 79,115,909 (GRCm39)	V849D	probably damaging	Het
Hepacam	A	G	9: 37,292,005 (GRCm39)	D111G	probably benign	Het
Hk1	T	C	10: 62,105,761 (GRCm39)	D895G	probably damaging	Het
Irag1	A	T	7: 110,470,680 (GRCm39)	Y678*	probably null	Het
Kdm5b	T	C	1: 134,532,235 (GRCm39)	V471A	probably benign	Het
Klhdc8b	A	G	9: 108,326,317 (GRCm39)	Y239H	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt82	T	C	15: 101,454,022 (GRCm39)	T229A	probably damaging	Het
Lrrc37	A	T	11: 103,504,451 (GRCm39)	S2506T	probably benign	Het
Lztr1	T	C	16: 17,341,993 (GRCm39)	L656P	probably damaging	Het
Mfrp	T	C	9: 44,013,773 (GRCm39)		probably benign	Het
Nfe2l1	A	G	11: 96,710,739 (GRCm39)	S497P	probably benign	Het
Or2ag1b	G	A	7: 106,288,227 (GRCm39)	A237V	possibly damaging	Het
Or8b44	G	T	9: 38,410,359 (GRCm39)	L131F	probably benign	Het
Otud4	C	A	8: 80,390,737 (GRCm39)	T418K	probably benign	Het
Pcdhb21	A	G	18: 37,648,256 (GRCm39)	N462D	probably damaging	Het
Plch1	A	G	3: 63,630,278 (GRCm39)	S497P	probably damaging	Het
Plekha8	T	C	6: 54,590,179 (GRCm39)	V48A	probably damaging	Het
Prxl2c	C	T	13: 64,445,131 (GRCm39)	G164D	possibly damaging	Het
Sdad1	G	A	5: 92,453,596 (GRCm39)	A64V	possibly damaging	Het
Selenop	G	T	15: 3,309,052 (GRCm39)	A335S	probably damaging	Het
Shc3	T	C	13: 51,585,271 (GRCm39)	N448S	probably benign	Het
Shcbp1	G	A	8: 4,798,737 (GRCm39)	T394I	probably benign	Het
Slc39a11	G	T	11: 113,138,648 (GRCm39)	A276E	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Speg	T	A	1: 75,407,549 (GRCm39)	S3185R	probably damaging	Het
Tmem100	A	T	11: 89,926,579 (GRCm39)	*135Y	probably null	Het
Ube2o	A	T	11: 116,430,898 (GRCm39)	F1001I	probably damaging	Het
Usp7	T	C	16: 8,527,985 (GRCm39)	D148G	probably benign	Het
Vmn2r16	A	G	5: 109,511,736 (GRCm39)	T648A	probably damaging	Het
Vmn2r67	A	G	7: 84,785,944 (GRCm39)	L687P	possibly damaging	Het
Zcchc14	ACCGCCGCCGCCGCCGCC	ACCGCCGCCGCCGCC	8: 122,378,530 (GRCm39)		probably benign	Het
Zfp800	A	G	6: 28,243,718 (GRCm39)	S416P	probably benign	Het

Other mutations in Ppp2r5d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Ppp2r5d	APN	17	46,996,443 (GRCm39)	critical splice donor site	probably null
IGL01570:Ppp2r5d	APN	17	46,998,843 (GRCm39)	missense	possibly damaging	0.64
IGL02504:Ppp2r5d	APN	17	47,011,019 (GRCm39)	missense	probably benign	0.34
R0620:Ppp2r5d	UTSW	17	46,994,944 (GRCm39)	missense	probably benign
R0665:Ppp2r5d	UTSW	17	46,997,330 (GRCm39)	missense	probably damaging	1.00
R1584:Ppp2r5d	UTSW	17	46,995,610 (GRCm39)	missense	probably benign	0.45
R1989:Ppp2r5d	UTSW	17	46,995,025 (GRCm39)	missense	probably benign	0.00
R4261:Ppp2r5d	UTSW	17	46,998,007 (GRCm39)	nonsense	probably null
R5577:Ppp2r5d	UTSW	17	46,998,901 (GRCm39)	missense	probably benign	0.00
R5717:Ppp2r5d	UTSW	17	46,998,820 (GRCm39)	missense	probably damaging	0.99
R6266:Ppp2r5d	UTSW	17	46,996,629 (GRCm39)	splice site	probably null
R6491:Ppp2r5d	UTSW	17	46,996,509 (GRCm39)	missense	probably damaging	1.00
R6792:Ppp2r5d	UTSW	17	47,015,782 (GRCm39)	missense	probably benign
R7060:Ppp2r5d	UTSW	17	46,998,279 (GRCm39)	missense	possibly damaging	0.63
R7100:Ppp2r5d	UTSW	17	46,996,608 (GRCm39)	missense	probably benign	0.03
R7197:Ppp2r5d	UTSW	17	46,996,527 (GRCm39)	missense	probably damaging	0.99
R7231:Ppp2r5d	UTSW	17	46,994,986 (GRCm39)	missense	probably benign	0.00
R7237:Ppp2r5d	UTSW	17	46,997,206 (GRCm39)	missense	possibly damaging	0.86
R7832:Ppp2r5d	UTSW	17	46,995,472 (GRCm39)	missense	probably benign	0.00
R8129:Ppp2r5d	UTSW	17	46,995,263 (GRCm39)	missense	probably benign
R8682:Ppp2r5d	UTSW	17	46,997,989 (GRCm39)	missense	probably benign	0.35
R9029:Ppp2r5d	UTSW	17	46,998,906 (GRCm39)	missense	probably benign	0.00
R9545:Ppp2r5d	UTSW	17	46,995,687 (GRCm39)	missense	probably damaging	1.00
R9548:Ppp2r5d	UTSW	17	46,998,527 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCAACTTAGAACCATTGTC -3'
(R):5'- TCTTTGGGGAAACGGGGTAC -3'

Sequencing Primer
(F):5'- AGAACCATTGTCTAGGTTTCCCCAG -3'
(R):5'- CTTTGGGGAAACGGGGTACTATAG -3'

Posted On

2019-10-07