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

119512391-119578115 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 119517847 bp (GRCm39)

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
4933405L10Rik	G	A	8: 106,436,412 (GRCm39)	V194I	probably benign	Het
Acsm1	A	T	7: 119,235,678 (GRCm39)	I133F	probably damaging	Het
Adamts9	T	A	6: 92,774,986 (GRCm39)	T1676S	probably benign	Het
Adcy4	T	C	14: 56,009,745 (GRCm39)	D769G	probably benign	Het
Aif1	T	C	17: 35,390,085 (GRCm39)	*148W	probably null	Het
Akna	C	T	4: 63,310,363 (GRCm39)		probably benign	Het
Arhgap32	G	A	9: 32,156,551 (GRCm39)		probably null	Het
Atpaf1	G	A	4: 115,642,449 (GRCm39)	E92K	possibly damaging	Het
Bltp2	T	C	11: 78,159,203 (GRCm39)	V467A	possibly damaging	Het
C1s1	T	C	6: 124,510,313 (GRCm39)	E378G	probably benign	Het
Caprin1	T	A	2: 103,599,914 (GRCm39)	Q108L	probably damaging	Het
Car13	A	T	3: 14,721,299 (GRCm39)	H154L	probably benign	Het
Cdon	C	A	9: 35,381,426 (GRCm39)	N605K	probably damaging	Het
Ceacam10	G	A	7: 24,480,439 (GRCm39)	G70E	probably damaging	Het
Cfap221	G	A	1: 119,881,930 (GRCm39)	T286M	probably benign	Het
Cfap61	T	C	2: 145,791,864 (GRCm39)	F107S	possibly damaging	Het
Coil	C	A	11: 88,872,449 (GRCm39)	T270N	probably benign	Het
Crocc2	T	G	1: 93,151,936 (GRCm39)		probably benign	Het
Crot	T	C	5: 9,019,959 (GRCm39)	E461G	probably damaging	Het
D130052B06Rik	G	T	11: 33,573,391 (GRCm39)	R41L	unknown	Het
D630045J12Rik	T	C	6: 38,173,671 (GRCm39)	S166G	possibly damaging	Het
Dennd4a	T	G	9: 64,769,673 (GRCm39)	V460G	probably damaging	Het
Depdc7	A	T	2: 104,557,668 (GRCm39)		probably benign	Het
Dgkb	G	A	12: 38,240,134 (GRCm39)		probably null	Het
Dhx57	T	G	17: 80,582,226 (GRCm39)	S407R	probably benign	Het
Dnase2a	G	T	8: 85,636,392 (GRCm39)		probably benign	Het
Dqx1	T	G	6: 83,035,986 (GRCm39)	M106R	probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Ephx2	T	G	14: 66,345,512 (GRCm39)	I151L	probably benign	Het
Gdf3	C	T	6: 122,584,094 (GRCm39)	G91D	probably damaging	Het
Gpc5	T	A	14: 115,665,620 (GRCm39)	N481K	possibly damaging	Het
Gsdme	T	A	6: 50,198,087 (GRCm39)	H291L	probably benign	Het
H2-T13	A	G	17: 36,394,614 (GRCm39)	I103T	possibly damaging	Het
Hif3a	G	A	7: 16,785,946 (GRCm39)		probably benign	Het
Hmox2	A	T	16: 4,583,627 (GRCm39)	I232L	probably benign	Het
Itgb2	A	G	10: 77,397,023 (GRCm39)	Y686C	probably damaging	Het
Jmjd1c	A	G	10: 67,055,302 (GRCm39)	T528A	possibly damaging	Het
Kdr	T	C	5: 76,121,388 (GRCm39)	I541V	possibly damaging	Het
Khdrbs2	C	A	1: 32,559,054 (GRCm39)	V343L	probably damaging	Het
Kif16b	C	T	2: 142,695,579 (GRCm39)	R175H	probably damaging	Het
Klri2	T	G	6: 129,717,251 (GRCm39)	E44A	possibly damaging	Het
Kmt2b	G	T	7: 30,276,180 (GRCm39)	T1773K	probably damaging	Het
Lair1	A	G	7: 4,013,785 (GRCm39)	L154P	probably damaging	Het
Larp1b	G	A	3: 40,924,996 (GRCm39)	V158M	probably damaging	Het
Lgi3	T	A	14: 70,772,280 (GRCm39)	I275N	probably damaging	Het
Lrba	A	G	3: 86,202,486 (GRCm39)	N246D	probably damaging	Het
Lrrc45	T	A	11: 120,605,733 (GRCm39)		probably benign	Het
Mdh2	G	T	5: 135,818,533 (GRCm39)	V263L	probably benign	Het
Myom1	T	A	17: 71,341,688 (GRCm39)	V149E	probably damaging	Het
Nanos1	A	T	19: 60,745,479 (GRCm39)	D259V	probably damaging	Het
Nedd4l	T	A	18: 65,294,725 (GRCm39)		probably benign	Het
Npas3	A	G	12: 53,878,528 (GRCm39)	Y150C	probably damaging	Het
Or10ab4	A	T	7: 107,655,170 (GRCm39)	H327L	probably benign	Het
Or10ag59	T	A	2: 87,405,911 (GRCm39)	V161D	possibly damaging	Het
Or2h1b	C	T	17: 37,462,446 (GRCm39)	C139Y	probably damaging	Het
Or2y1f	A	T	11: 49,184,165 (GRCm39)	I6F	probably benign	Het
Or52e15	G	A	7: 104,645,913 (GRCm39)	A66V	probably damaging	Het
Or8k28	T	C	2: 86,286,363 (GRCm39)	N84S	possibly damaging	Het
Pde4c	A	G	8: 71,202,725 (GRCm39)	N637S	probably benign	Het
Pds5b	T	A	5: 150,702,740 (GRCm39)	V824D	possibly damaging	Het
Pole2	A	T	12: 69,269,160 (GRCm39)		probably benign	Het
Ppig	C	T	2: 69,566,320 (GRCm39)		probably benign	Het
Prep	A	G	10: 44,968,772 (GRCm39)	Y90C	probably damaging	Het
Proca1	A	T	11: 78,085,731 (GRCm39)	R11S	probably damaging	Het
Prph	T	A	15: 98,954,872 (GRCm39)	W313R	probably benign	Het
Prune2	C	T	19: 17,100,444 (GRCm39)	P1983S	probably benign	Het
Rsph6a	C	T	7: 18,808,031 (GRCm39)	P398L	probably damaging	Het
Sdk2	T	C	11: 113,720,793 (GRCm39)	I1379V	probably benign	Het
Sf3b1	C	T	1: 55,058,430 (GRCm39)	G53E	probably damaging	Het
Slc9a3	T	C	13: 74,305,903 (GRCm39)		probably null	Het
Smarcal1	A	T	1: 72,665,632 (GRCm39)	H710L	probably benign	Het
Soat2	GAGAAG	GAG	15: 102,059,142 (GRCm39)		probably benign	Het
Sptan1	T	C	2: 29,881,045 (GRCm39)	V438A	probably damaging	Het
Sstr4	T	A	2: 148,238,181 (GRCm39)	V264D	probably damaging	Het
Susd2	A	G	10: 75,475,745 (GRCm39)	L418P	probably damaging	Het
Synj1	A	G	16: 90,735,528 (GRCm39)	V1475A	probably benign	Het
Szt2	G	A	4: 118,233,544 (GRCm39)		probably benign	Het
Tbc1d4	T	C	14: 101,695,499 (GRCm39)		probably null	Het
Tesk1	A	G	4: 43,446,000 (GRCm39)	E311G	probably damaging	Het
Tmed5	A	T	5: 108,273,882 (GRCm39)	V119E	probably damaging	Het
Tmem260	T	C	14: 48,724,324 (GRCm39)	S201P	possibly damaging	Het
Tnxb	A	G	17: 34,890,707 (GRCm39)	Y350C	probably damaging	Het
Tpte	T	C	8: 22,825,624 (GRCm39)		probably benign	Het
Trim37	A	T	11: 87,037,794 (GRCm39)	D161V	probably damaging	Het
Trrap	C	A	5: 144,751,366 (GRCm39)	Q1640K	probably damaging	Het
Tspoap1	T	C	11: 87,667,172 (GRCm39)		probably benign	Het
Ttk	T	A	9: 83,729,313 (GRCm39)		probably benign	Het
Vmn1r172	A	G	7: 23,359,957 (GRCm39)	S281G	probably benign	Het
Vmn1r177	A	G	7: 23,565,022 (GRCm39)	S285P	probably damaging	Het
Vmn1r231	C	T	17: 21,110,661 (GRCm39)	V85I	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r118	T	C	17: 55,915,643 (GRCm39)	I436V	probably benign	Het
Vmn2r12	T	C	5: 109,240,765 (GRCm39)	K116R	probably benign	Het
Vmn2r28	T	A	7: 5,491,513 (GRCm39)	I245L	probably benign	Het
Wdr26	A	T	1: 181,008,216 (GRCm39)		probably benign	Het
Xrcc3	A	T	12: 111,776,391 (GRCm39)	H67Q	probably benign	Het
Zbbx	A	T	3: 74,985,802 (GRCm39)	S417T	possibly damaging	Het
Zc3h13	A	G	14: 75,560,922 (GRCm39)	D504G	unknown	Het
Zfp1005	G	A	2: 150,109,973 (GRCm39)	G221D	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zyg11b	A	T	4: 108,112,505 (GRCm39)	F388I	probably damaging	Het

Other mutations in Ptbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Ptbp2	APN	3	119,541,461 (GRCm39)	missense	probably damaging	1.00
IGL01874:Ptbp2	APN	3	119,541,449 (GRCm39)	missense	probably damaging	1.00
IGL01940:Ptbp2	APN	3	119,519,764 (GRCm39)	missense	possibly damaging	0.46
IGL02094:Ptbp2	APN	3	119,546,589 (GRCm39)	splice site	probably benign
IGL02374:Ptbp2	APN	3	119,514,342 (GRCm39)	splice site	probably benign
IGL02523:Ptbp2	APN	3	119,534,136 (GRCm39)	nonsense	probably null
IGL02879:Ptbp2	APN	3	119,534,054 (GRCm39)	missense	probably damaging	1.00
IGL03149:Ptbp2	APN	3	119,514,074 (GRCm39)	missense	possibly damaging	0.86
IGL03153:Ptbp2	APN	3	119,545,593 (GRCm39)	missense	probably benign	0.04
IGL03391:Ptbp2	APN	3	119,514,031 (GRCm39)	nonsense	probably null
R0067:Ptbp2	UTSW	3	119,514,290 (GRCm39)	missense	probably benign	0.00
R0067:Ptbp2	UTSW	3	119,514,290 (GRCm39)	missense	probably benign	0.00
R0091:Ptbp2	UTSW	3	119,514,310 (GRCm39)	missense	probably damaging	1.00
R0511:Ptbp2	UTSW	3	119,514,613 (GRCm39)	missense	probably benign
R0722:Ptbp2	UTSW	3	119,514,570 (GRCm39)	missense	possibly damaging	0.72
R1573:Ptbp2	UTSW	3	119,546,754 (GRCm39)	missense	probably damaging	1.00
R1907:Ptbp2	UTSW	3	119,555,398 (GRCm39)	missense	probably damaging	1.00
R3606:Ptbp2	UTSW	3	119,541,281 (GRCm39)	missense	probably damaging	1.00
R5082:Ptbp2	UTSW	3	119,546,613 (GRCm39)	missense	probably benign	0.06
R5575:Ptbp2	UTSW	3	119,514,438 (GRCm39)	missense	possibly damaging	0.86
R5575:Ptbp2	UTSW	3	119,514,432 (GRCm39)	splice site	probably null
R5655:Ptbp2	UTSW	3	119,517,806 (GRCm39)	missense	probably benign	0.44
R5836:Ptbp2	UTSW	3	119,519,746 (GRCm39)	missense	probably damaging	0.98
R6290:Ptbp2	UTSW	3	119,517,769 (GRCm39)	missense	possibly damaging	0.50
R6364:Ptbp2	UTSW	3	119,534,091 (GRCm39)	missense	probably damaging	1.00
R6398:Ptbp2	UTSW	3	119,514,484 (GRCm39)	missense	probably benign	0.23
R6574:Ptbp2	UTSW	3	119,541,596 (GRCm39)	missense	probably damaging	0.99
R7037:Ptbp2	UTSW	3	119,545,557 (GRCm39)	missense	probably damaging	1.00
R7243:Ptbp2	UTSW	3	119,546,761 (GRCm39)	missense	possibly damaging	0.47
R7718:Ptbp2	UTSW	3	119,514,637 (GRCm39)	missense	probably null	1.00
R8182:Ptbp2	UTSW	3	119,534,078 (GRCm39)	missense	probably damaging	0.99
R8443:Ptbp2	UTSW	3	119,541,467 (GRCm39)	missense	probably damaging	1.00
R9110:Ptbp2	UTSW	3	119,541,258 (GRCm39)	missense	possibly damaging	0.69
R9164:Ptbp2	UTSW	3	119,546,640 (GRCm39)	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