Mutagenetix > Incidental Mutation

Incidental Mutation 'R0091:Ptbp2'

20194

Institutional Source

Beutler Lab

Gene Symbol

Ptbp2

Ensembl Gene

ENSMUSG00000028134

Gene Name

polypyrimidine tract binding protein 2

Synonyms

brPTB

MMRRC Submission

038378-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0091 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

119512391-119578115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119514310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 471 (L471Q)

Ref Sequence

ENSEMBL: ENSMUSP00000143510 (fasta)

Gene Model

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

AlphaFold

Q91Z31

Predicted Effect

probably damaging
Transcript: ENSMUST00000029780
AA Change: L471Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029780
Gene: ENSMUSG00000028134
AA Change: L471Q

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: ENSMUST00000198733

Predicted Effect

probably damaging
Transcript: ENSMUST00000200097
AA Change: L471Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143510
Gene: ENSMUSG00000028134
AA Change: L471Q

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

Meta Mutation Damage Score

0.8322

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.4%
20x: 84.5%

Validation Efficiency

98% (86/88)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,932,179 (GRCm39)	S278P	possibly damaging	Het
Adam11	A	G	11: 102,663,665 (GRCm39)	Y281C	probably damaging	Het
Adam6a	G	T	12: 113,507,849 (GRCm39)	R74L	possibly damaging	Het
Adcy5	T	C	16: 35,091,368 (GRCm39)		probably null	Het
Adrb2	A	G	18: 62,312,090 (GRCm39)	L245P	probably benign	Het
Aebp2	T	C	6: 140,589,800 (GRCm39)		probably null	Het
Arhgap23	A	G	11: 97,343,070 (GRCm39)	T240A	probably benign	Het
Atp10a	T	C	7: 58,423,794 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,274,213 (GRCm39)	Y416F	probably damaging	Het
Atp5mc2	A	C	15: 102,571,492 (GRCm39)	L133R	probably damaging	Het
Bicral	A	T	17: 47,136,233 (GRCm39)	Y326N	probably damaging	Het
Chst4	T	C	8: 110,757,297 (GRCm39)	S189G	probably damaging	Het
Cnot1	A	T	8: 96,489,772 (GRCm39)	I477N	probably damaging	Het
Col7a1	G	T	9: 108,796,574 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,415,301 (GRCm39)		probably benign	Het
Dcn	A	G	10: 97,342,551 (GRCm39)	N169S	probably benign	Het
Dnajc6	T	C	4: 101,473,974 (GRCm39)		probably benign	Het
Egln3	A	G	12: 54,228,432 (GRCm39)	F225L	probably benign	Het
Erap1	G	A	13: 74,816,171 (GRCm39)	R100Q	possibly damaging	Het
Erc2	A	T	14: 27,498,781 (GRCm39)		probably null	Het
Fto	G	A	8: 92,168,435 (GRCm39)		probably null	Het
Gdap1l1	C	T	2: 163,288,011 (GRCm39)	P80S	probably damaging	Het
Gm1123	T	C	9: 98,905,405 (GRCm39)	E35G	possibly damaging	Het
Hhipl1	A	G	12: 108,288,156 (GRCm39)		probably benign	Het
Ift80	A	T	3: 68,822,008 (GRCm39)	L679Q	probably damaging	Het
Il18	A	G	9: 50,488,013 (GRCm39)		probably benign	Het
Inhbb	T	C	1: 119,345,125 (GRCm39)	Y388C	probably damaging	Het
Kmt2d	G	T	15: 98,742,360 (GRCm39)		probably benign	Het
Krt20	A	G	11: 99,328,640 (GRCm39)	V95A	probably damaging	Het
Lck	A	T	4: 129,449,474 (GRCm39)	S274R	possibly damaging	Het
Lrp1	T	A	10: 127,376,848 (GRCm39)	N4243I	probably damaging	Het
Lrrfip2	G	A	9: 111,043,311 (GRCm39)	V506I	probably damaging	Het
Ltbp2	A	G	12: 84,840,507 (GRCm39)	C1000R	probably damaging	Het
Matn3	G	A	12: 9,002,105 (GRCm39)	D106N	probably damaging	Het
Mical2	A	G	7: 111,980,503 (GRCm39)	E49G	probably benign	Het
Mmadhc	A	G	2: 50,182,869 (GRCm39)	S36P	probably damaging	Het
Morn1	T	C	4: 155,229,629 (GRCm39)	Y433H	probably damaging	Het
Mpo	A	G	11: 87,692,436 (GRCm39)	M525V	probably benign	Het
Myo5a	C	T	9: 75,068,774 (GRCm39)	R659C	probably damaging	Het
Obox6	T	C	7: 15,568,364 (GRCm39)	S171G	probably benign	Het
Or1j18	A	G	2: 36,624,917 (GRCm39)	N195D	probably damaging	Het
Or4k36	T	A	2: 111,146,518 (GRCm39)	D231E	probably benign	Het
Or5g29	A	T	2: 85,421,696 (GRCm39)	N271Y	probably benign	Het
P2ry14	A	G	3: 59,023,314 (GRCm39)	Y49H	probably benign	Het
Papss2	C	T	19: 32,611,302 (GRCm39)	T17I	possibly damaging	Het
Pcid2	T	C	8: 13,135,392 (GRCm39)	T206A	probably benign	Het
Pex6	A	G	17: 47,022,844 (GRCm39)	E140G	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prdx2	T	G	8: 85,698,330 (GRCm39)		probably benign	Het
Rbm33	T	A	5: 28,557,604 (GRCm39)	D232E	possibly damaging	Het
Rnf214	T	A	9: 45,809,791 (GRCm39)		probably null	Het
Rora	G	A	9: 69,281,330 (GRCm39)	R314H	probably damaging	Het
Rufy4	T	C	1: 74,168,095 (GRCm39)		probably benign	Het
Sag	T	C	1: 87,742,402 (GRCm39)	V58A	probably damaging	Het
Serpina3i	C	T	12: 104,231,423 (GRCm39)	T20M	probably damaging	Het
Slc4a5	A	G	6: 83,254,537 (GRCm39)	N578S	probably benign	Het
Soat2	A	G	15: 102,066,574 (GRCm39)	Y285C	probably damaging	Het
Syk	A	G	13: 52,794,769 (GRCm39)	Y478C	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tas2r126	A	T	6: 42,412,036 (GRCm39)	M190L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ttc19	A	G	11: 62,199,910 (GRCm39)	D218G	probably damaging	Het
Tut1	T	C	19: 8,942,800 (GRCm39)	V629A	probably damaging	Het
Txndc11	T	C	16: 10,905,968 (GRCm39)	N521D	probably benign	Het
Ushbp1	T	C	8: 71,841,614 (GRCm39)	E405G	possibly damaging	Het
Usp46	C	T	5: 74,163,918 (GRCm39)	R246Q	probably benign	Het
Utrn	T	C	10: 12,610,948 (GRCm39)	D469G	probably damaging	Het
Vmn2r104	T	A	17: 20,262,075 (GRCm39)	I352F	possibly damaging	Het
Wdr4	G	A	17: 31,715,890 (GRCm39)	T398I	probably benign	Het
Ythdc1	T	A	5: 86,968,560 (GRCm39)		probably benign	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
R0396:Ptbp2	UTSW	3	119,517,847 (GRCm39)	splice site	probably benign
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'- ACTGTTGCCATCTGAAGAAGAGCC -3'
(R):5'- TTGGGAATTCACCACTGCACCG -3'

Sequencing Primer
(F):5'- GCCATCTGAAGAAGAGCCATTTTG -3'
(R):5'- AAAACTTTCAGAACATTTTCCCTCC -3'

Posted On

2013-04-11