Mutagenetix > Incidental Mutation

Incidental Mutation 'R0396:Ptbp2'

32021

Institutional Source

Beutler Lab

Gene Symbol

Ptbp2

Ensembl Gene

ENSMUSG00000028134

Gene Name

polypyrimidine tract binding protein 2

Synonyms

brPTB

MMRRC Submission

038602-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0396 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119718742-119784466 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 119724198 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029780] [ENSMUST00000195902] [ENSMUST00000197387] [ENSMUST00000197833] [ENSMUST00000200097]

AlphaFold

Q91Z31

Predicted Effect

probably benign
Transcript: ENSMUST00000029780

SMART Domains

Protein: ENSMUSP00000029780
Gene: ENSMUSG00000028134

Domain	Start	End	E-Value	Type
RRM	60	129	3.8e-6	SMART
low complexity region	144	159	N/A	INTRINSIC
RRM	182	251	1.22e-4	SMART
low complexity region	285	295	N/A	INTRINSIC
RRM	339	408	1.07e-9	SMART
RRM	456	526	1.99e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195902

SMART Domains

Protein: ENSMUSP00000143325
Gene: ENSMUSG00000028134

Domain	Start	End	E-Value	Type
Blast:RRM_2	1	48	7e-25	BLAST
PDB:1SJR\|A	1	48	3e-27	PDB
low complexity region	49	59	N/A	INTRINSIC
Pfam:RRM_1	109	154	1.9e-4	PFAM
Pfam:RRM_6	109	155	1.4e-6	PFAM
Pfam:RRM_5	124	155	2.6e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196203

Predicted Effect

probably benign
Transcript: ENSMUST00000197387

Predicted Effect

probably benign
Transcript: ENSMUST00000197833

SMART Domains

Protein: ENSMUSP00000143719
Gene: ENSMUSG00000028134

Domain	Start	End	E-Value	Type
RRM	60	129	1.7e-8	SMART
low complexity region	144	159	N/A	INTRINSIC
RRM	182	251	5.2e-7	SMART
low complexity region	285	295	N/A	INTRINSIC
PDB:2MJU\|A	325	349	4e-7	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198733

Predicted Effect

probably benign
Transcript: ENSMUST00000200097

SMART Domains

Protein: ENSMUSP00000143510
Gene: ENSMUSG00000028134

Domain	Start	End	E-Value	Type
RRM	60	129	3.8e-6	SMART
low complexity region	144	159	N/A	INTRINSIC
RRM	182	251	1.22e-4	SMART
low complexity region	285	295	N/A	INTRINSIC
RRM	339	408	1.07e-9	SMART
RRM	456	525	8.08e-10	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 89.8%

Validation Efficiency

92% (96/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality with premature neurogenesis and abnormal neural stem cell polarity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,268,377	V467A	possibly damaging	Het
4933405L10Rik	G	A	8: 105,709,780	V194I	probably benign	Het
Acsm1	A	T	7: 119,636,455	I133F	probably damaging	Het
Adamts9	T	A	6: 92,798,005	T1676S	probably benign	Het
Adcy4	T	C	14: 55,772,288	D769G	probably benign	Het
Aif1	T	C	17: 35,171,109	*148W	probably null	Het
Akna	C	T	4: 63,392,126		probably benign	Het
Arhgap32	G	A	9: 32,245,255		probably null	Het
Atpaf1	G	A	4: 115,785,252	E92K	possibly damaging	Het
C1s1	T	C	6: 124,533,354	E378G	probably benign	Het
Caprin1	T	A	2: 103,769,569	Q108L	probably damaging	Het
Car13	A	T	3: 14,656,239	H154L	probably benign	Het
Cdon	C	A	9: 35,470,130	N605K	probably damaging	Het
Ceacam10	G	A	7: 24,781,014	G70E	probably damaging	Het
Cfap221	G	A	1: 119,954,200	T286M	probably benign	Het
Cfap61	T	C	2: 145,949,944	F107S	possibly damaging	Het
Coil	C	A	11: 88,981,623	T270N	probably benign	Het
Crocc2	T	G	1: 93,224,214		probably benign	Het
Crot	T	C	5: 8,969,959	E461G	probably damaging	Het
D130052B06Rik	G	T	11: 33,623,391	R41L	unknown	Het
D630045J12Rik	T	C	6: 38,196,736	S166G	possibly damaging	Het
Dennd4a	T	G	9: 64,862,391	V460G	probably damaging	Het
Depdc7	A	T	2: 104,727,323		probably benign	Het
Dgkb	G	A	12: 38,190,135		probably null	Het
Dhx57	T	G	17: 80,274,797	S407R	probably benign	Het
Dnase2a	G	T	8: 84,909,763		probably benign	Het
Dqx1	T	G	6: 83,059,005	M106R	probably benign	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Ephx2	T	G	14: 66,108,063	I151L	probably benign	Het
Gdf3	C	T	6: 122,607,135	G91D	probably damaging	Het
Gm14124	G	A	2: 150,268,053	G221D	probably damaging	Het
Gpc5	T	A	14: 115,428,208	N481K	possibly damaging	Het
Gsdme	T	A	6: 50,221,107	H291L	probably benign	Het
H2-Bl	A	G	17: 36,083,722	I103T	possibly damaging	Het
Hif3a	G	A	7: 17,052,021		probably benign	Het
Hmox2	A	T	16: 4,765,763	I232L	probably benign	Het
Itgb2	A	G	10: 77,561,189	Y686C	probably damaging	Het
Jmjd1c	A	G	10: 67,219,523	T528A	possibly damaging	Het
Kdr	T	C	5: 75,960,728	I541V	possibly damaging	Het
Khdrbs2	C	A	1: 32,519,973	V343L	probably damaging	Het
Kif16b	C	T	2: 142,853,659	R175H	probably damaging	Het
Klri2	T	G	6: 129,740,288	E44A	possibly damaging	Het
Kmt2b	G	T	7: 30,576,755	T1773K	probably damaging	Het
Lair1	A	G	7: 4,010,786	L154P	probably damaging	Het
Larp1b	G	A	3: 40,970,561	V158M	probably damaging	Het
Lgi3	T	A	14: 70,534,840	I275N	probably damaging	Het
Lrba	A	G	3: 86,295,179	N246D	probably damaging	Het
Lrrc45	T	A	11: 120,714,907		probably benign	Het
Mdh2	G	T	5: 135,789,679	V263L	probably benign	Het
Myom1	T	A	17: 71,034,693	V149E	probably damaging	Het
Nanos1	A	T	19: 60,757,041	D259V	probably damaging	Het
Nedd4l	T	A	18: 65,161,654		probably benign	Het
Npas3	A	G	12: 53,831,745	Y150C	probably damaging	Het
Olfr1066	T	C	2: 86,456,019	N84S	possibly damaging	Het
Olfr1129	T	A	2: 87,575,567	V161D	possibly damaging	Het
Olfr1392	A	T	11: 49,293,338	I6F	probably benign	Het
Olfr479	A	T	7: 108,055,963	H327L	probably benign	Het
Olfr672	G	A	7: 104,996,706	A66V	probably damaging	Het
Olfr93	C	T	17: 37,151,555	C139Y	probably damaging	Het
Pde4c	A	G	8: 70,750,076	N637S	probably benign	Het
Pds5b	T	A	5: 150,779,275	V824D	possibly damaging	Het
Pole2	A	T	12: 69,222,386		probably benign	Het
Ppig	C	T	2: 69,735,976		probably benign	Het
Prep	A	G	10: 45,092,676	Y90C	probably damaging	Het
Proca1	A	T	11: 78,194,905	R11S	probably damaging	Het
Prph	T	A	15: 99,056,991	W313R	probably benign	Het
Prune2	C	T	19: 17,123,080	P1983S	probably benign	Het
Rsph6a	C	T	7: 19,074,106	P398L	probably damaging	Het
Sdk2	T	C	11: 113,829,967	I1379V	probably benign	Het
Sf3b1	C	T	1: 55,019,271	G53E	probably damaging	Het
Slc9a3	T	C	13: 74,157,784		probably null	Het
Smarcal1	A	T	1: 72,626,473	H710L	probably benign	Het
Soat2	GAGAAG	GAG	15: 102,150,707		probably benign	Het
Sptan1	T	C	2: 29,991,033	V438A	probably damaging	Het
Sstr4	T	A	2: 148,396,261	V264D	probably damaging	Het
Susd2	A	G	10: 75,639,911	L418P	probably damaging	Het
Synj1	A	G	16: 90,938,640	V1475A	probably benign	Het
Szt2	G	A	4: 118,376,347		probably benign	Het
Tbc1d4	T	C	14: 101,458,063		probably null	Het
Tesk1	A	G	4: 43,446,000	E311G	probably damaging	Het
Tmed5	A	T	5: 108,126,016	V119E	probably damaging	Het
Tmem260	T	C	14: 48,486,867	S201P	possibly damaging	Het
Tnxb	A	G	17: 34,671,733	Y350C	probably damaging	Het
Tpte	T	C	8: 22,335,608		probably benign	Het
Trim37	A	T	11: 87,146,968	D161V	probably damaging	Het
Trrap	C	A	5: 144,814,556	Q1640K	probably damaging	Het
Tspoap1	T	C	11: 87,776,346		probably benign	Het
Ttk	T	A	9: 83,847,260		probably benign	Het
Vmn1r172	A	G	7: 23,660,532	S281G	probably benign	Het
Vmn1r177	A	G	7: 23,865,597	S285P	probably damaging	Het
Vmn1r231	C	T	17: 20,890,399	V85I	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r118	T	C	17: 55,608,643	I436V	probably benign	Het
Vmn2r12	T	C	5: 109,092,899	K116R	probably benign	Het
Vmn2r28	T	A	7: 5,488,514	I245L	probably benign	Het
Wdr26	A	T	1: 181,180,651		probably benign	Het
Xrcc3	A	T	12: 111,809,957	H67Q	probably benign	Het
Zbbx	A	T	3: 75,078,495	S417T	possibly damaging	Het
Zc3h13	A	G	14: 75,323,482	D504G	unknown	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zyg11b	A	T	4: 108,255,308	F388I	probably damaging	Het

Other mutations in Ptbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Ptbp2	APN	3	119747812	missense	probably damaging	1.00
IGL01874:Ptbp2	APN	3	119747800	missense	probably damaging	1.00
IGL01940:Ptbp2	APN	3	119726115	missense	possibly damaging	0.46
IGL02094:Ptbp2	APN	3	119752940	splice site	probably benign
IGL02374:Ptbp2	APN	3	119720693	splice site	probably benign
IGL02523:Ptbp2	APN	3	119740487	nonsense	probably null
IGL02879:Ptbp2	APN	3	119740405	missense	probably damaging	1.00
IGL03149:Ptbp2	APN	3	119720425	missense	possibly damaging	0.86
IGL03153:Ptbp2	APN	3	119751944	missense	probably benign	0.04
IGL03391:Ptbp2	APN	3	119720382	nonsense	probably null
R0067:Ptbp2	UTSW	3	119720641	missense	probably benign	0.00
R0067:Ptbp2	UTSW	3	119720641	missense	probably benign	0.00
R0091:Ptbp2	UTSW	3	119720661	missense	probably damaging	1.00
R0511:Ptbp2	UTSW	3	119720964	missense	probably benign
R0722:Ptbp2	UTSW	3	119720921	missense	possibly damaging	0.72
R1573:Ptbp2	UTSW	3	119753105	missense	probably damaging	1.00
R1907:Ptbp2	UTSW	3	119761749	missense	probably damaging	1.00
R3606:Ptbp2	UTSW	3	119747632	missense	probably damaging	1.00
R5082:Ptbp2	UTSW	3	119752964	missense	probably benign	0.06
R5575:Ptbp2	UTSW	3	119720783	splice site	probably null
R5575:Ptbp2	UTSW	3	119720789	missense	possibly damaging	0.86
R5655:Ptbp2	UTSW	3	119724157	missense	probably benign	0.44
R5836:Ptbp2	UTSW	3	119726097	missense	probably damaging	0.98
R6290:Ptbp2	UTSW	3	119724120	missense	possibly damaging	0.50
R6364:Ptbp2	UTSW	3	119740442	missense	probably damaging	1.00
R6398:Ptbp2	UTSW	3	119720835	missense	probably benign	0.23
R6574:Ptbp2	UTSW	3	119747947	missense	probably damaging	0.99
R7037:Ptbp2	UTSW	3	119751908	missense	probably damaging	1.00
R7243:Ptbp2	UTSW	3	119753112	missense	possibly damaging	0.47
R7718:Ptbp2	UTSW	3	119720988	missense	probably null	1.00
R8182:Ptbp2	UTSW	3	119740429	missense	probably damaging	0.99
R8443:Ptbp2	UTSW	3	119747818	missense	probably damaging	1.00
R9110:Ptbp2	UTSW	3	119747609	missense	possibly damaging	0.69
R9164:Ptbp2	UTSW	3	119752991	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTTCCACTGCCAAACTGAGTCAAAATC -3'
(R):5'- ACGCCCCAAAGTCTGTTTACCC -3'

Sequencing Primer
(F):5'- GCAAAAGTCACTTCAGTTTTGGG -3'
(R):5'- AAAGTCTGTTTACCCTCTTCGGTATG -3'

Posted On

2013-04-24