Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02262:Ppp1r13b'

286788

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp1r13b

Ensembl Gene

ENSMUSG00000021285

Gene Name

protein phosphatase 1, regulatory subunit 13B

Synonyms

ASPP1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

IGL02262

Quality Score

Status

Chromosome

Chromosomal Location

111794891-111874544 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 111801645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 346 (L346F)

Ref Sequence

ENSEMBL: ENSMUSP00000152424 (fasta)

Gene Model

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

AlphaFold

Q62415

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054815
AA Change: L469F

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000062464
Gene: ENSMUSG00000021285
AA Change: L469F

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

possibly damaging
Transcript: ENSMUST00000220486
AA Change: L346F

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000222843

Coding Region Coverage

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	G	T	10: 14,317,140 (GRCm39)	A560E	probably benign	Het
Apol7c	A	T	15: 77,410,013 (GRCm39)	M311K	probably benign	Het
Arap2	A	C	5: 62,800,184 (GRCm39)	V1281G	probably damaging	Het
Cacna1s	C	T	1: 136,035,867 (GRCm39)	T1388I	probably damaging	Het
Dcaf13	T	C	15: 38,982,102 (GRCm39)		probably benign	Het
Dscaml1	G	A	9: 45,656,414 (GRCm39)	G1585S	probably benign	Het
Dscaml1	G	A	9: 45,643,378 (GRCm39)	V1266I	probably benign	Het
Epc1	A	G	18: 6,437,278 (GRCm39)	L750P	probably damaging	Het
Fgd6	T	A	10: 93,961,490 (GRCm39)	M1108K	probably damaging	Het
Gm14496	T	C	2: 181,637,805 (GRCm39)	I293T	probably damaging	Het
Gm21759	T	C	5: 8,230,747 (GRCm39)		probably benign	Het
Igkv3-10	A	T	6: 70,550,154 (GRCm39)	D100V	possibly damaging	Het
Ipo13	A	C	4: 117,761,010 (GRCm39)	I569M	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Kif26b	A	G	1: 178,743,633 (GRCm39)	Y1243C	probably benign	Het
Map3k12	T	C	15: 102,410,510 (GRCm39)	E489G	probably damaging	Het
Mtcl2	A	T	2: 156,872,826 (GRCm39)	V895E	probably damaging	Het
Nrxn1	A	G	17: 91,011,636 (GRCm39)	V331A	probably damaging	Het
Ntrk1	G	A	3: 87,689,104 (GRCm39)	L529F	probably damaging	Het
Obscn	A	T	11: 58,919,359 (GRCm39)	C6882S	possibly damaging	Het
Or14j5	A	C	17: 38,162,154 (GRCm39)	T224P	probably damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Psg22	T	C	7: 18,458,496 (GRCm39)	S396P	probably damaging	Het
Rbm19	A	G	5: 120,281,470 (GRCm39)	E797G	probably damaging	Het
Ros1	T	G	10: 52,055,065 (GRCm39)	D79A	probably damaging	Het
Scn10a	C	T	9: 119,487,499 (GRCm39)	V612I	possibly damaging	Het
Sema4c	A	G	1: 36,589,422 (GRCm39)	V568A	probably damaging	Het
Traf5	A	G	1: 191,729,636 (GRCm39)	F472L	probably damaging	Het
Trim30b	C	T	7: 104,015,107 (GRCm39)	V94M	probably damaging	Het
Wasl	A	T	6: 24,619,186 (GRCm39)	S445T	unknown	Het
Zfp541	A	G	7: 15,813,620 (GRCm39)	K758E	probably damaging	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
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
R4278:Ppp1r13b	UTSW	12	111,796,818 (GRCm39)	missense	probably damaging	0.96
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

Posted On

2015-04-16