Mutagenetix > Incidental Mutation

Incidental Mutation 'R4278:Ppp1r13b'

322776

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r13b

Ensembl Gene

ENSMUSG00000021285

Gene Name

protein phosphatase 1, regulatory subunit 13B

Synonyms

ASPP1

MMRRC Submission

068968-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R4278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111794891-111874544 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111796818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 908 (N908K)

Ref Sequence

ENSEMBL: ENSMUSP00000152424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021714] [ENSMUST00000054815] [ENSMUST00000220486] [ENSMUST00000221375] [ENSMUST00000222843]

AlphaFold

Q62415

Predicted Effect

probably benign
Transcript: ENSMUST00000021714

SMART Domains

Protein: ENSMUSP00000021714
Gene: ENSMUSG00000021286

Domain	Start	End	E-Value	Type
FYVE	36	105	7.11e-16	SMART
Pfam:ZFYVE21_C	108	233	1.1e-56	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054815
AA Change: N1031K

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: N1031K

Domain	Start	End	E-Value	Type
PDB:2UWQ\|A	1	83	8e-35	PDB
Blast:RA	5	84	3e-47	BLAST
coiled coil region	123	305	N/A	INTRINSIC
low complexity region	437	476	N/A	INTRINSIC
low complexity region	523	539	N/A	INTRINSIC
low complexity region	610	625	N/A	INTRINSIC
PDB:4IRV\|H	695	741	1e-12	PDB
ANK	917	946	4.16e-7	SMART
ANK	950	979	4.63e-5	SMART
SH3	1019	1077	1.79e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000220486
AA Change: N908K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221313

Predicted Effect

probably benign
Transcript: ENSMUST00000221375

Predicted Effect

probably benign
Transcript: ENSMUST00000222843

Predicted Effect

probably benign
Transcript: ENSMUST00000223211

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants show lymphatic vascular phenotypes with subcutaneous edema detected only during embryogenesis, delayed lymphatic vessel formation, and mispatterned collecting lymphatic vessels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anln	A	G	9: 22,245,296 (GRCm39)		probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Bltp3b	T	G	10: 89,642,571 (GRCm39)		probably null	Het
Capza3	T	A	6: 139,987,786 (GRCm39)	Y128*	probably null	Het
Ccdc187	T	A	2: 26,172,239 (GRCm39)		probably benign	Het
Dpp4	T	C	2: 62,209,667 (GRCm39)	R119G	probably damaging	Het
Espn	T	C	4: 152,218,874 (GRCm39)	D308G	probably damaging	Het
Gm9857	T	C	3: 108,847,419 (GRCm39)		probably benign	Het
Hhatl	G	A	9: 121,613,285 (GRCm39)	A470V	probably benign	Het
Igfals	A	T	17: 25,100,191 (GRCm39)	E427D	probably benign	Het
Il22ra1	C	T	4: 135,478,024 (GRCm39)	A365V	possibly damaging	Het
Kctd6	G	C	14: 8,222,806 (GRCm38)	R216P	probably damaging	Het
Lama1	A	T	17: 68,098,512 (GRCm39)	M1864L	probably null	Het
Mbd5	T	G	2: 49,162,305 (GRCm39)	I37S	probably damaging	Het
Nsf	C	A	11: 103,821,632 (GRCm39)	A5S	probably damaging	Het
Nsun5	A	G	5: 135,398,914 (GRCm39)	Y26C	probably damaging	Het
Or9q1	A	G	19: 13,805,793 (GRCm39)		probably benign	Het
Pitpnm3	C	T	11: 71,965,342 (GRCm39)	V164I	probably damaging	Het
Plk2	A	G	13: 110,532,637 (GRCm39)	K117R	probably benign	Het
Rapgef4	T	A	2: 72,028,739 (GRCm39)	N385K	possibly damaging	Het
Rbp3	G	A	14: 33,680,607 (GRCm39)	V1070I	probably benign	Het
Rhbdd3	C	T	11: 5,055,329 (GRCm39)	T226I	probably benign	Het
Slc27a3	C	T	3: 90,296,495 (GRCm39)		probably benign	Het
Slc30a2	G	A	4: 134,073,360 (GRCm39)	E136K	probably null	Het
Sptlc2	A	C	12: 87,382,925 (GRCm39)	I393R	probably benign	Het
Tmem260	C	T	14: 48,715,093 (GRCm39)	T249M	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn1r80	G	T	7: 11,927,454 (GRCm39)	C188F	probably benign	Het
Vwa2	C	A	19: 56,891,915 (GRCm39)	Q283K	probably benign	Het
Zfp52	A	G	17: 21,782,132 (GRCm39)	K660R	probably benign	Het

Other mutations in Ppp1r13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Ppp1r13b	APN	12	111,795,804 (GRCm39)	missense	probably damaging	0.99
IGL01102:Ppp1r13b	APN	12	111,799,653 (GRCm39)	missense	probably benign
IGL01621:Ppp1r13b	APN	12	111,801,526 (GRCm39)	missense	possibly damaging	0.50
IGL01677:Ppp1r13b	APN	12	111,810,099 (GRCm39)	missense	probably benign	0.18
IGL01720:Ppp1r13b	APN	12	111,824,694 (GRCm39)	missense	probably benign	0.05
IGL01921:Ppp1r13b	APN	12	111,799,671 (GRCm39)	missense	probably benign
IGL02059:Ppp1r13b	APN	12	111,799,781 (GRCm39)	missense	probably damaging	1.00
IGL02187:Ppp1r13b	APN	12	111,801,472 (GRCm39)	missense	probably damaging	0.99
IGL02262:Ppp1r13b	APN	12	111,801,645 (GRCm39)	missense	possibly damaging	0.88
IGL02385:Ppp1r13b	APN	12	111,801,477 (GRCm39)	missense	probably damaging	1.00
IGL02894:Ppp1r13b	APN	12	111,797,888 (GRCm39)	unclassified	probably benign
IGL03027:Ppp1r13b	APN	12	111,796,830 (GRCm39)	nonsense	probably null
IGL03049:Ppp1r13b	APN	12	111,799,663 (GRCm39)	missense	probably benign	0.29
PIT4468001:Ppp1r13b	UTSW	12	111,805,136 (GRCm39)	missense	probably benign	0.08
PIT4472001:Ppp1r13b	UTSW	12	111,799,074 (GRCm39)	missense	probably damaging	1.00
R0393:Ppp1r13b	UTSW	12	111,802,122 (GRCm39)	missense	probably benign	0.01
R0561:Ppp1r13b	UTSW	12	111,832,880 (GRCm39)	missense	probably damaging	1.00
R1067:Ppp1r13b	UTSW	12	111,801,550 (GRCm39)	missense	probably damaging	1.00
R1208:Ppp1r13b	UTSW	12	111,811,339 (GRCm39)	missense	probably damaging	1.00
R1208:Ppp1r13b	UTSW	12	111,811,339 (GRCm39)	missense	probably damaging	1.00
R1512:Ppp1r13b	UTSW	12	111,838,842 (GRCm39)	missense	possibly damaging	0.84
R1563:Ppp1r13b	UTSW	12	111,807,416 (GRCm39)	missense	probably damaging	1.00
R1918:Ppp1r13b	UTSW	12	111,801,244 (GRCm39)	missense	probably damaging	1.00
R2014:Ppp1r13b	UTSW	12	111,800,222 (GRCm39)	missense	probably benign
R2134:Ppp1r13b	UTSW	12	111,800,167 (GRCm39)	missense	probably benign	0.00
R2306:Ppp1r13b	UTSW	12	111,811,327 (GRCm39)	missense	probably damaging	1.00
R3508:Ppp1r13b	UTSW	12	111,838,801 (GRCm39)	missense	probably damaging	1.00
R3767:Ppp1r13b	UTSW	12	111,812,851 (GRCm39)	missense	probably damaging	0.99
R4237:Ppp1r13b	UTSW	12	111,805,170 (GRCm39)	missense	probably benign
R4690:Ppp1r13b	UTSW	12	111,798,992 (GRCm39)	missense	probably damaging	1.00
R4702:Ppp1r13b	UTSW	12	111,799,715 (GRCm39)	missense	probably benign	0.00
R5094:Ppp1r13b	UTSW	12	111,810,044 (GRCm39)	missense	probably benign	0.00
R5250:Ppp1r13b	UTSW	12	111,811,394 (GRCm39)	missense	probably benign	0.20
R5444:Ppp1r13b	UTSW	12	111,805,122 (GRCm39)	missense	probably benign
R5607:Ppp1r13b	UTSW	12	111,800,223 (GRCm39)	missense	probably benign	0.44
R5874:Ppp1r13b	UTSW	12	111,811,423 (GRCm39)	missense	probably damaging	1.00
R5935:Ppp1r13b	UTSW	12	111,796,876 (GRCm39)	missense	probably benign
R6074:Ppp1r13b	UTSW	12	111,798,836 (GRCm39)	missense	probably damaging	1.00
R6253:Ppp1r13b	UTSW	12	111,802,160 (GRCm39)	missense	probably benign
R6511:Ppp1r13b	UTSW	12	111,798,001 (GRCm39)	missense	probably damaging	1.00
R6836:Ppp1r13b	UTSW	12	111,801,629 (GRCm39)	missense	probably benign	0.16
R6968:Ppp1r13b	UTSW	12	111,799,612 (GRCm39)	missense	possibly damaging	0.76
R7269:Ppp1r13b	UTSW	12	111,801,353 (GRCm39)	missense	probably damaging	0.99
R7284:Ppp1r13b	UTSW	12	111,801,400 (GRCm39)	missense	possibly damaging	0.82
R7304:Ppp1r13b	UTSW	12	111,838,840 (GRCm39)	missense	possibly damaging	0.49
R7314:Ppp1r13b	UTSW	12	111,812,790 (GRCm39)	missense	probably damaging	1.00
R7393:Ppp1r13b	UTSW	12	111,805,188 (GRCm39)	missense	probably damaging	1.00
R7639:Ppp1r13b	UTSW	12	111,800,049 (GRCm39)	missense	probably damaging	1.00
R7873:Ppp1r13b	UTSW	12	111,801,320 (GRCm39)	missense	probably damaging	1.00
R7994:Ppp1r13b	UTSW	12	111,798,776 (GRCm39)	missense	probably damaging	1.00
R8828:Ppp1r13b	UTSW	12	111,799,981 (GRCm39)	missense	probably damaging	0.99
R8885:Ppp1r13b	UTSW	12	111,799,871 (GRCm39)	missense	probably damaging	0.99
R8887:Ppp1r13b	UTSW	12	111,803,430 (GRCm39)	unclassified	probably benign
R8900:Ppp1r13b	UTSW	12	111,838,778 (GRCm39)	missense	probably damaging	1.00
R9005:Ppp1r13b	UTSW	12	111,796,708 (GRCm39)	missense	probably benign	0.26
R9147:Ppp1r13b	UTSW	12	111,800,268 (GRCm39)	missense	probably benign	0.13
R9148:Ppp1r13b	UTSW	12	111,800,268 (GRCm39)	missense	probably benign	0.13
R9180:Ppp1r13b	UTSW	12	111,811,416 (GRCm39)	missense	probably benign	0.34
R9483:Ppp1r13b	UTSW	12	111,800,210 (GRCm39)	missense	probably benign	0.13
R9497:Ppp1r13b	UTSW	12	111,807,446 (GRCm39)	missense	probably benign	0.09
R9561:Ppp1r13b	UTSW	12	111,810,077 (GRCm39)	missense	probably damaging	1.00
R9746:Ppp1r13b	UTSW	12	111,800,242 (GRCm39)	missense	probably benign	0.09
R9775:Ppp1r13b	UTSW	12	111,803,457 (GRCm39)	missense	possibly damaging	0.81
R9784:Ppp1r13b	UTSW	12	111,810,119 (GRCm39)	missense	probably benign
X0010:Ppp1r13b	UTSW	12	111,797,893 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGAACCCCATGCTGTGAGTG -3'
(R):5'- TGTGCTGCTACTCAGATAAGG -3'

Sequencing Primer
(F):5'- GCCTTTTGAACGAGTCAACG -3'
(R):5'- AAGGTCTGATGGTTCCCTAAAG -3'

Posted On

2015-06-20