Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01335:Ptbp1'

74611

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptbp1

Ensembl Gene

ENSMUSG00000006498

Gene Name

polypyrimidine tract binding protein 1

Synonyms

Ptb, hnRNP I

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01335

Quality Score

Status

Chromosome

Chromosomal Location

79690502-79700269 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 79698708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057343] [ENSMUST00000092325] [ENSMUST00000095457] [ENSMUST00000165724] [ENSMUST00000165704] [ENSMUST00000165601] [ENSMUST00000166023] [ENSMUST00000167707] [ENSMUST00000167250] [ENSMUST00000168683] [ENSMUST00000167897] [ENSMUST00000172282] [ENSMUST00000171599] [ENSMUST00000169483]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057343

SMART Domains

Protein: ENSMUSP00000059481
Gene: ENSMUSG00000006498

Domain	Start	End	E-Value	Type
low complexity region	32	38	N/A	INTRINSIC
RRM	59	128	9.8e-9	SMART
low complexity region	161	178	N/A	INTRINSIC
RRM	184	253	4.75e-7	SMART
low complexity region	305	330	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092325

SMART Domains

Protein: ENSMUSP00000089979
Gene: ENSMUSG00000035835

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
acidPPc	132	276	1.38e-16	SMART
coiled coil region	430	460	N/A	INTRINSIC
low complexity region	562	581	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000095457

SMART Domains

Protein: ENSMUSP00000093109
Gene: ENSMUSG00000006498

Domain	Start	End	E-Value	Type
Pfam:RRM_6	36	86	1.9e-5	PFAM
Pfam:RRM_5	38	90	3.6e-12	PFAM
low complexity region	121	138	N/A	INTRINSIC
RRM	144	213	4.75e-7	SMART
low complexity region	265	290	N/A	INTRINSIC
RRM	296	365	1.84e-13	SMART
RRM	413	483	2.6e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000099958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164385

Predicted Effect

probably benign
Transcript: ENSMUST00000165724

SMART Domains

Protein: ENSMUSP00000130749
Gene: ENSMUSG00000006498

Domain	Start	End	E-Value	Type
Pfam:RRM_5	2	40	5.3e-7	PFAM
low complexity region	114	139	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000165704

SMART Domains

Protein: ENSMUSP00000127783
Gene: ENSMUSG00000006498

Domain	Start	End	E-Value	Type
low complexity region	32	38	N/A	INTRINSIC
RRM	59	128	9.8e-9	SMART
low complexity region	161	178	N/A	INTRINSIC
RRM	184	253	4.75e-7	SMART
low complexity region	305	330	N/A	INTRINSIC
RRM	336	405	1.84e-13	SMART
RRM	453	523	2.6e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168216

Predicted Effect

probably benign
Transcript: ENSMUST00000165601

SMART Domains

Protein: ENSMUSP00000128681
Gene: ENSMUSG00000035835

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
acidPPc	132	266	7.27e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166023

SMART Domains

Protein: ENSMUSP00000127171
Gene: ENSMUSG00000035835

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167707

SMART Domains

Protein: ENSMUSP00000132994
Gene: ENSMUSG00000035835

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
Blast:acidPPc	125	159	8e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000167250

SMART Domains

Protein: ENSMUSP00000130695
Gene: ENSMUSG00000035835

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
acidPPc	132	276	1.38e-16	SMART
low complexity region	437	454	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169091

SMART Domains

Protein: ENSMUSP00000128449
Gene: ENSMUSG00000006498

Domain	Start	End	E-Value	Type
low complexity region	13	19	N/A	INTRINSIC
Pfam:RRM_5	29	81	3.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168683

SMART Domains

Protein: ENSMUSP00000132383
Gene: ENSMUSG00000006498

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
SCOP:d2u1a__	17	55	3e-3	SMART
PDB:2AD9\|A	18	55	9e-19	PDB
Blast:RRM	29	55	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000167897

SMART Domains

Protein: ENSMUSP00000127972
Gene: ENSMUSG00000035835

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000172282

SMART Domains

Protein: ENSMUSP00000126192
Gene: ENSMUSG00000006498

Domain	Start	End	E-Value	Type
low complexity region	32	38	N/A	INTRINSIC
RRM	59	128	9.8e-9	SMART
low complexity region	161	178	N/A	INTRINSIC
RRM	184	253	4.75e-7	SMART
low complexity region	331	356	N/A	INTRINSIC
RRM	362	431	1.84e-13	SMART
RRM	479	549	2.6e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184090

Predicted Effect

probably benign
Transcript: ENSMUST00000171599

SMART Domains

Protein: ENSMUSP00000131296
Gene: ENSMUSG00000006498

Domain	Start	End	E-Value	Type
low complexity region	87	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169483

SMART Domains

Protein: ENSMUSP00000127507
Gene: ENSMUSG00000006498

Domain	Start	End	E-Value	Type
low complexity region	32	38	N/A	INTRINSIC

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 belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die before E6.5. Mice homozygous for a conditional allele activated in neuronal stem cells (NSCs) exhibit premature death, and non-obstructive hydrocephaly with loss of ependymal cells due to precocious NSC differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	A	2: 152,284,307 (GRCm39)	M300K	possibly damaging	Het
Adamts14	T	A	10: 61,034,460 (GRCm39)	R1143W	possibly damaging	Het
Ankrd28	T	C	14: 31,423,981 (GRCm39)	Y1083C	probably damaging	Het
Anxa8	T	C	14: 33,811,547 (GRCm39)	M34T	probably damaging	Het
Aox1	G	T	1: 58,121,312 (GRCm39)	E928*	probably null	Het
Atp8b5	T	A	4: 43,302,628 (GRCm39)	F50L	possibly damaging	Het
Brpf1	A	G	6: 113,296,298 (GRCm39)	S863G	probably damaging	Het
Cdc42bpb	A	G	12: 111,260,530 (GRCm39)		probably benign	Het
Cdh6	C	T	15: 13,051,395 (GRCm39)	A413T	probably benign	Het
Cfap96	A	T	8: 46,426,642 (GRCm39)		probably benign	Het
Cfap97	A	G	8: 46,623,492 (GRCm39)	Q294R	probably damaging	Het
Cit	C	T	5: 116,046,889 (GRCm39)		probably benign	Het
Dmbt1	A	G	7: 130,690,497 (GRCm39)	Y736C	possibly damaging	Het
Eno2	C	T	6: 124,743,618 (GRCm39)	G107E	probably damaging	Het
Gja8	T	C	3: 96,826,558 (GRCm39)	Q368R	probably benign	Het
Gm3633	T	A	14: 42,462,595 (GRCm39)		probably benign	Het
Gm4987	A	T	X: 45,544,755 (GRCm39)		noncoding transcript	Het
Gna13	G	A	11: 109,256,569 (GRCm39)	R164Q	probably damaging	Het
Grhl1	A	T	12: 24,658,057 (GRCm39)	E351D	probably damaging	Het
Idua	A	G	5: 108,828,737 (GRCm39)	Q280R	probably benign	Het
Igsf5	T	A	16: 96,174,353 (GRCm39)		probably benign	Het
Mrpl52	T	C	14: 54,664,656 (GRCm39)	Y39H	probably damaging	Het
Naa16	A	T	14: 79,582,556 (GRCm39)		probably benign	Het
Naa35	T	A	13: 59,764,610 (GRCm39)	L338Q	probably damaging	Het
Nat8l	A	T	5: 34,155,791 (GRCm39)	Y149F	probably benign	Het
Nck1	A	T	9: 100,379,790 (GRCm39)	W154R	probably damaging	Het
Ncoa1	A	T	12: 4,347,520 (GRCm39)	S351R	probably benign	Het
Or10w1	A	T	19: 13,632,540 (GRCm39)	H249L	probably damaging	Het
Or12e10	A	T	2: 87,640,790 (GRCm39)	T209S	probably damaging	Het
Or6c8b	T	C	10: 128,882,380 (GRCm39)	K184R	probably benign	Het
Or8k1	A	T	2: 86,047,916 (GRCm39)	L46Q	probably damaging	Het
Pacs1	A	T	19: 5,192,660 (GRCm39)	V624E	probably damaging	Het
Pde6b	G	A	5: 108,571,379 (GRCm39)	R444H	probably benign	Het
Pigk	A	T	3: 152,448,173 (GRCm39)	T226S	probably benign	Het
Prkdc	T	C	16: 15,634,760 (GRCm39)		probably null	Het
Pyroxd1	T	C	6: 142,307,484 (GRCm39)	V418A	probably damaging	Het
Rhot1	A	T	11: 80,141,055 (GRCm39)	D421V	probably damaging	Het
Rimkla	T	C	4: 119,335,156 (GRCm39)	T76A	possibly damaging	Het
Rtn1	A	G	12: 72,355,124 (GRCm39)	V274A	probably benign	Het
Tatdn2	T	A	6: 113,681,017 (GRCm39)	M289K	probably benign	Het
Trak1	A	G	9: 121,283,382 (GRCm39)	T476A	possibly damaging	Het
Ube2i	C	A	17: 25,488,410 (GRCm39)	Q11H	probably damaging	Het
Ugt2a3	A	T	5: 87,484,644 (GRCm39)	C127S	probably damaging	Het
Uimc1	T	A	13: 55,182,724 (GRCm39)	Q619L	probably benign	Het
Upk3a	T	A	15: 84,903,786 (GRCm39)	Y162N	probably damaging	Het
Usp33	T	C	3: 152,097,854 (GRCm39)	S849P	probably damaging	Het
Vmn2r120	G	A	17: 57,832,732 (GRCm39)	T149I	possibly damaging	Het
Vmn2r15	G	A	5: 109,434,602 (GRCm39)	P701S	possibly damaging	Het
Vmn2r28	T	C	7: 5,484,087 (GRCm39)	I704M	possibly damaging	Het
Wdhd1	T	C	14: 47,488,239 (GRCm39)	E756G	possibly damaging	Het
Xlr3c	C	A	X: 72,303,639 (GRCm39)	V102F	probably benign	Het
Zfp384	T	G	6: 125,002,016 (GRCm39)	D220E	probably benign	Het
Zfp521	A	T	18: 13,977,776 (GRCm39)	V879E	probably benign	Het

Other mutations in Ptbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Ptbp1	APN	10	79,695,796 (GRCm39)	splice site	probably benign
IGL03119:Ptbp1	APN	10	79,695,458 (GRCm39)	missense	probably damaging	1.00
carillon	UTSW	10	79,694,897 (GRCm39)	missense	probably damaging	0.98
Citi	UTSW	10	79,695,766 (GRCm39)	missense	probably benign	0.31
R1433:Ptbp1	UTSW	10	79,699,107 (GRCm39)	missense	probably damaging	1.00
R2418:Ptbp1	UTSW	10	79,695,511 (GRCm39)	missense	probably damaging	0.98
R4222:Ptbp1	UTSW	10	79,695,047 (GRCm39)	missense	probably benign	0.07
R4223:Ptbp1	UTSW	10	79,695,047 (GRCm39)	missense	probably benign	0.07
R4224:Ptbp1	UTSW	10	79,695,047 (GRCm39)	missense	probably benign	0.07
R4688:Ptbp1	UTSW	10	79,692,342 (GRCm39)	missense	possibly damaging	0.87
R5841:Ptbp1	UTSW	10	79,695,766 (GRCm39)	missense	probably benign	0.31
R6961:Ptbp1	UTSW	10	79,695,111 (GRCm39)	splice site	probably null
R7242:Ptbp1	UTSW	10	79,692,222 (GRCm39)	missense	unknown
R7579:Ptbp1	UTSW	10	79,694,954 (GRCm39)	missense	probably benign	0.02
R8341:Ptbp1	UTSW	10	79,699,045 (GRCm39)	missense	probably benign
R8832:Ptbp1	UTSW	10	79,699,023 (GRCm39)	missense	probably damaging	1.00
R9141:Ptbp1	UTSW	10	79,694,897 (GRCm39)	missense	probably damaging	0.98
R9426:Ptbp1	UTSW	10	79,694,897 (GRCm39)	missense	probably damaging	0.98
R9465:Ptbp1	UTSW	10	79,695,615 (GRCm39)	missense	possibly damaging	0.93

Posted On

2013-10-07