Mutagenetix > Incidental Mutation

Incidental Mutation 'R6836:Ppp1r13b'

534586

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r13b

Ensembl Gene

ENSMUSG00000021285

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 13B

Synonyms

ASPP1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.795) question?

Stock #

R6836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111828457-111908110 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111835195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 352 (S352G)

Ref Sequence

ENSEMBL: ENSMUSP00000152424 (fasta)

Gene Model

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

AlphaFold

Q62415

Predicted Effect

probably benign
Transcript: ENSMUST00000054815
AA Change: S475G

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: S475G

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 benign
Transcript: ENSMUST00000220486
AA Change: S352G

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000222843

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,196,504	I81F	possibly damaging	Het
Adamtsl2	T	C	2: 27,081,706	M1T	probably null	Het
Aim2	C	G	1: 173,463,980	T317R	probably damaging	Het
Alox8	T	C	11: 69,186,505	Y473C	probably damaging	Het
Alox8	T	C	11: 69,189,889	R209G	possibly damaging	Het
Asb5	A	G	8: 54,585,071	M210V	probably benign	Het
Atp2c2	T	A	8: 119,734,415	L249Q	probably damaging	Het
AU018091	T	G	7: 3,164,156	D77A	probably damaging	Het
Bahcc1	A	T	11: 120,271,757	K294*	probably null	Het
Baz2b	C	T	2: 59,917,425	R1298Q	probably damaging	Het
Bivm	T	A	1: 44,143,136	N501K	possibly damaging	Het
Bpifb5	T	A	2: 154,228,065	I145N	probably benign	Het
Casq2	A	T	3: 102,086,760	N41I	probably damaging	Het
Ccdc18	T	C	5: 108,197,967	L993P	probably damaging	Het
Cfap44	A	G	16: 44,404,079	D50G	probably damaging	Het
Clca3a2	T	A	3: 144,806,383	I91F	probably damaging	Het
Crebbp	T	A	16: 4,180,022	H66L	possibly damaging	Het
Cyfip2	T	C	11: 46,272,640	T321A	probably benign	Het
Dido1	A	G	2: 180,662,307	V1268A	probably benign	Het
E030030I06Rik	A	C	10: 22,148,492	V174G	probably damaging	Het
Gm20730	G	T	6: 43,081,833		probably null	Het
Gm36176	T	C	10: 77,847,142		probably benign	Het
Gper1	T	A	5: 139,426,680	M260K	probably damaging	Het
Igfbp2	T	C	1: 72,849,658	L89P	probably damaging	Het
Katnal1	T	C	5: 148,894,164	N200S	probably damaging	Het
Kcnk13	G	T	12: 100,061,689	R341L	probably damaging	Het
Klhl20	T	A	1: 161,105,406	E277D	probably benign	Het
Lingo1	T	C	9: 56,619,772	Y517C	probably damaging	Het
Lrrk1	C	T	7: 66,342,779	E82K	probably benign	Het
Mtor	T	A	4: 148,489,498	V1275D	possibly damaging	Het
Ncan	C	T	8: 70,100,315	S1089N	possibly damaging	Het
Notch4	C	T	17: 34,586,100	T1643I	probably damaging	Het
Olfr1258	T	C	2: 89,930,339	C177R	probably damaging	Het
Olfr1357	A	G	10: 78,612,590	L17P	probably damaging	Het
Olfr1387	A	T	11: 49,460,077	T133S	possibly damaging	Het
Olfr539	A	C	7: 140,668,180	I298L	possibly damaging	Het
Pcdhgb6	T	C	18: 37,742,962	V241A	probably benign	Het
Phf11b	T	A	14: 59,328,123	T102S	possibly damaging	Het
Pkd1	T	A	17: 24,581,259	V2998E	probably damaging	Het
Ptprh	C	T	7: 4,551,135	V778M	probably damaging	Het
Ptprz1	C	T	6: 23,030,665	Q1008*	probably null	Het
Ralgapa1	A	T	12: 55,604,273		probably null	Het
Rbm20	G	A	19: 53,814,069	G336E	probably damaging	Het
Sdsl	T	C	5: 120,462,102	I77V	probably benign	Het
Serpina3b	G	A	12: 104,134,082	E308K	probably benign	Het
Sfrp5	G	A	19: 42,201,710	T101I	probably damaging	Het
Slc2a13	C	T	15: 91,321,632	V451I	probably benign	Het
Slc6a9	C	T	4: 117,867,886	A559V	possibly damaging	Het
Spg11	C	T	2: 122,059,535	A2109T	probably damaging	Het
Stard9	C	T	2: 120,699,843	R2194C	probably benign	Het
Tfeb	T	C	17: 47,786,198		probably null	Het
Tiam2	T	A	17: 3,414,380	I128N	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Tpr	T	G	1: 150,436,673		probably null	Het
Traf3ip1	T	C	1: 91,521,000	I456T	probably benign	Het
Ttll4	T	A	1: 74,689,413	D892E	probably damaging	Het
Ubr1	T	A	2: 120,896,675		probably null	Het
Vmn2r74	T	A	7: 85,957,422	I239F	probably benign	Het
Wdfy3	C	T	5: 101,952,999	V251M	probably damaging	Het
Xylb	T	A	9: 119,391,754	L531H	probably damaging	Het
Zfp960	T	A	17: 17,088,172	C383S	probably damaging	Het

Other mutations in Ppp1r13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Ppp1r13b	APN	12	111829370	missense	probably damaging	0.99
IGL01102:Ppp1r13b	APN	12	111833219	missense	probably benign
IGL01621:Ppp1r13b	APN	12	111835092	missense	possibly damaging	0.50
IGL01677:Ppp1r13b	APN	12	111843665	missense	probably benign	0.18
IGL01720:Ppp1r13b	APN	12	111858260	missense	probably benign	0.05
IGL01921:Ppp1r13b	APN	12	111833237	missense	probably benign
IGL02059:Ppp1r13b	APN	12	111833347	missense	probably damaging	1.00
IGL02187:Ppp1r13b	APN	12	111835038	missense	probably damaging	0.99
IGL02262:Ppp1r13b	APN	12	111835211	missense	possibly damaging	0.88
IGL02385:Ppp1r13b	APN	12	111835043	missense	probably damaging	1.00
IGL02894:Ppp1r13b	APN	12	111831454	unclassified	probably benign
IGL03027:Ppp1r13b	APN	12	111830396	nonsense	probably null
IGL03049:Ppp1r13b	APN	12	111833229	missense	probably benign	0.29
PIT4468001:Ppp1r13b	UTSW	12	111838702	missense	probably benign	0.08
PIT4472001:Ppp1r13b	UTSW	12	111832640	missense	probably damaging	1.00
R0393:Ppp1r13b	UTSW	12	111835688	missense	probably benign	0.01
R0561:Ppp1r13b	UTSW	12	111866446	missense	probably damaging	1.00
R1067:Ppp1r13b	UTSW	12	111835116	missense	probably damaging	1.00
R1208:Ppp1r13b	UTSW	12	111844905	missense	probably damaging	1.00
R1208:Ppp1r13b	UTSW	12	111844905	missense	probably damaging	1.00
R1512:Ppp1r13b	UTSW	12	111872408	missense	possibly damaging	0.84
R1563:Ppp1r13b	UTSW	12	111840982	missense	probably damaging	1.00
R1918:Ppp1r13b	UTSW	12	111834810	missense	probably damaging	1.00
R2014:Ppp1r13b	UTSW	12	111833788	missense	probably benign
R2134:Ppp1r13b	UTSW	12	111833733	missense	probably benign	0.00
R2306:Ppp1r13b	UTSW	12	111844893	missense	probably damaging	1.00
R3508:Ppp1r13b	UTSW	12	111872367	missense	probably damaging	1.00
R3767:Ppp1r13b	UTSW	12	111846417	missense	probably damaging	0.99
R4237:Ppp1r13b	UTSW	12	111838736	missense	probably benign
R4278:Ppp1r13b	UTSW	12	111830384	missense	probably damaging	0.96
R4690:Ppp1r13b	UTSW	12	111832558	missense	probably damaging	1.00
R4702:Ppp1r13b	UTSW	12	111833281	missense	probably benign	0.00
R5094:Ppp1r13b	UTSW	12	111843610	missense	probably benign	0.00
R5250:Ppp1r13b	UTSW	12	111844960	missense	probably benign	0.20
R5444:Ppp1r13b	UTSW	12	111838688	missense	probably benign
R5607:Ppp1r13b	UTSW	12	111833789	missense	probably benign	0.44
R5874:Ppp1r13b	UTSW	12	111844989	missense	probably damaging	1.00
R5935:Ppp1r13b	UTSW	12	111830442	missense	probably benign
R6074:Ppp1r13b	UTSW	12	111832402	missense	probably damaging	1.00
R6253:Ppp1r13b	UTSW	12	111835726	missense	probably benign
R6511:Ppp1r13b	UTSW	12	111831567	missense	probably damaging	1.00
R6968:Ppp1r13b	UTSW	12	111833178	missense	possibly damaging	0.76
R7269:Ppp1r13b	UTSW	12	111834919	missense	probably damaging	0.99
R7284:Ppp1r13b	UTSW	12	111834966	missense	possibly damaging	0.82
R7304:Ppp1r13b	UTSW	12	111872406	missense	possibly damaging	0.49
R7314:Ppp1r13b	UTSW	12	111846356	missense	probably damaging	1.00
R7393:Ppp1r13b	UTSW	12	111838754	missense	probably damaging	1.00
R7639:Ppp1r13b	UTSW	12	111833615	missense	probably damaging	1.00
R7873:Ppp1r13b	UTSW	12	111834886	missense	probably damaging	1.00
R7994:Ppp1r13b	UTSW	12	111832342	missense	probably damaging	1.00
R8828:Ppp1r13b	UTSW	12	111833547	missense	probably damaging	0.99
R8885:Ppp1r13b	UTSW	12	111833437	missense	probably damaging	0.99
R8887:Ppp1r13b	UTSW	12	111836996	unclassified	probably benign
R8900:Ppp1r13b	UTSW	12	111872344	missense	probably damaging	1.00
R9005:Ppp1r13b	UTSW	12	111830274	missense	probably benign	0.26
R9147:Ppp1r13b	UTSW	12	111833834	missense	probably benign	0.13
R9148:Ppp1r13b	UTSW	12	111833834	missense	probably benign	0.13
R9180:Ppp1r13b	UTSW	12	111844982	missense	probably benign	0.34
R9483:Ppp1r13b	UTSW	12	111833776	missense	probably benign	0.13
R9497:Ppp1r13b	UTSW	12	111841012	missense	probably benign	0.09
R9561:Ppp1r13b	UTSW	12	111843643	missense	probably damaging	1.00
R9746:Ppp1r13b	UTSW	12	111833808	missense	probably benign	0.09
R9775:Ppp1r13b	UTSW	12	111837023	missense	possibly damaging	0.81
R9784:Ppp1r13b	UTSW	12	111843685	missense	probably benign
X0010:Ppp1r13b	UTSW	12	111831459	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATCTCCAGTTGGAAAGGCAGG -3'
(R):5'- AATGTGTCCTATGTCCTTTAATGGC -3'

Sequencing Primer
(F):5'- TGCTGAATCTGCTGTGAG -3'
(R):5'- GGCTTACAAATTGTACTGTGTACTG -3'

Posted On

2018-09-12