Mutagenetix > Incidental Mutation

Incidental Mutation 'R7037:Ptbp2'

546756

Institutional Source

Beutler Lab

Gene Symbol

Ptbp2

Ensembl Gene

ENSMUSG00000028134

Gene Name

polypyrimidine tract binding protein 2

Synonyms

brPTB

MMRRC Submission

045137-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7037 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119512391-119578115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119545557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 130 (Y130H)

Ref Sequence

ENSEMBL: ENSMUSP00000143281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029780] [ENSMUST00000197464] [ENSMUST00000197833] [ENSMUST00000200097]

AlphaFold

Q91Z31

Predicted Effect

probably damaging
Transcript: ENSMUST00000029780
AA Change: Y130H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029780
Gene: ENSMUSG00000028134
AA Change: Y130H

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 damaging
Transcript: ENSMUST00000197464
AA Change: Y130H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143281
Gene: ENSMUSG00000028134
AA Change: Y130H

Domain	Start	End	E-Value	Type
RRM	60	129	3.8e-6	SMART
low complexity region	144	159	N/A	INTRINSIC
Pfam:RRM_1	183	239	8.6e-6	PFAM
Pfam:RRM_5	197	240	1.1e-6	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000197833
AA Change: Y130H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143719
Gene: ENSMUSG00000028134
AA Change: Y130H

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

probably damaging
Transcript: ENSMUST00000200097
AA Change: Y130H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143510
Gene: ENSMUSG00000028134
AA Change: Y130H

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (70/70)

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
Acsm3	A	T	7: 119,367,266 (GRCm39)	N33I	probably damaging	Het
Ahnak2	A	T	12: 112,740,712 (GRCm39)	V314D	probably damaging	Het
Arl14epl	T	G	18: 47,065,510 (GRCm39)	C92G	probably benign	Het
Atp6v1h	T	A	1: 5,220,215 (GRCm39)	M423K	possibly damaging	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Baz2b	C	T	2: 59,764,014 (GRCm39)		probably null	Het
Bicral	T	C	17: 47,135,560 (GRCm39)	H550R	probably benign	Het
C1rl	A	G	6: 124,485,598 (GRCm39)	Y323C	probably damaging	Het
Ccr9	T	A	9: 123,609,036 (GRCm39)	H239Q	possibly damaging	Het
Cdh16	T	A	8: 105,344,267 (GRCm39)	R91*	probably null	Het
Coro1c	A	G	5: 113,983,457 (GRCm39)	F357S	possibly damaging	Het
Cpsf4	G	A	5: 145,112,939 (GRCm39)	R141Q	possibly damaging	Het
Cryzl2	G	A	1: 157,298,318 (GRCm39)	V236I	probably damaging	Het
Cttnbp2	T	C	6: 18,435,117 (GRCm39)	E247G	probably damaging	Het
Dbr1	T	A	9: 99,458,621 (GRCm39)		probably null	Het
Dclk1	T	C	3: 55,370,469 (GRCm39)	S23P	probably damaging	Het
Dpyd	A	T	3: 118,692,938 (GRCm39)	I361F	probably benign	Het
Elac2	A	G	11: 64,874,537 (GRCm39)	E218G	probably benign	Het
Eml4	T	A	17: 83,732,756 (GRCm39)	D136E	probably benign	Het
Foxred1	A	T	9: 35,118,844 (GRCm39)	S223T	probably benign	Het
Garin5b	G	T	7: 4,761,584 (GRCm39)		probably benign	Het
Gask1a	G	T	9: 121,794,592 (GRCm39)	V249L	possibly damaging	Het
Gm11595	A	G	11: 99,663,474 (GRCm39)	C69R	unknown	Het
Gna14	A	T	19: 16,511,128 (GRCm39)	H59L		Het
H2-Ab1	T	A	17: 34,486,963 (GRCm39)	I239N	probably damaging	Het
Ints7	T	C	1: 191,351,717 (GRCm39)	S809P	probably benign	Het
Itgb4	T	A	11: 115,896,391 (GRCm39)	Y1379*	probably null	Het
Kank1	A	G	19: 25,407,705 (GRCm39)	D1233G	probably damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lrrc66	A	T	5: 73,764,504 (GRCm39)	D846E	probably benign	Het
Lyst	A	G	13: 13,791,251 (GRCm39)	H38R	probably damaging	Het
Mc3r	T	C	2: 172,091,554 (GRCm39)	F259L	probably damaging	Het
Med25	A	G	7: 44,532,206 (GRCm39)	Y384H	probably damaging	Het
Met	A	T	6: 17,547,127 (GRCm39)		probably benign	Het
Mmp16	T	C	4: 18,116,148 (GRCm39)	V584A	possibly damaging	Het
Mrgprb3	A	G	7: 48,292,942 (GRCm39)	L203P	probably damaging	Het
Mus81	A	G	19: 5,536,108 (GRCm39)	L185P	probably damaging	Het
Naaa	A	G	5: 92,424,934 (GRCm39)	V75A	possibly damaging	Het
Obscn	T	A	11: 58,934,755 (GRCm39)	T5292S	probably damaging	Het
Obscn	T	C	11: 58,943,430 (GRCm39)	S4801G	probably damaging	Het
Or2ag19	T	C	7: 106,444,543 (GRCm39)	S242P	probably damaging	Het
Otof	T	C	5: 30,538,882 (GRCm39)	D1112G	probably benign	Het
Pals1	T	A	12: 78,843,973 (GRCm39)	I59N	probably damaging	Het
Pbx4	A	G	8: 70,317,525 (GRCm39)	R170G	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Plce1	A	T	19: 38,690,461 (GRCm39)	D715V	probably damaging	Het
Pms1	T	C	1: 53,246,770 (GRCm39)	T311A	possibly damaging	Het
Popdc2	A	G	16: 38,194,629 (GRCm39)	D350G	probably damaging	Het
Prex1	A	G	2: 166,429,100 (GRCm39)	V661A	probably benign	Het
Rev3l	C	T	10: 39,727,971 (GRCm39)	R2707W	probably damaging	Het
Rpl37	G	A	15: 5,147,185 (GRCm39)	R75K	probably null	Het
Ryr3	T	A	2: 112,779,475 (GRCm39)	R259*	probably null	Het
Scai	A	T	2: 39,080,633 (GRCm39)	S8T	probably benign	Het
Scn4a	C	A	11: 106,211,726 (GRCm39)	L1430F	probably damaging	Het
Sema5a	A	G	15: 32,686,993 (GRCm39)	K1035R	probably damaging	Het
Siah3	A	G	14: 75,763,025 (GRCm39)	H92R	probably benign	Het
Smc4	G	A	3: 68,925,528 (GRCm39)	V342I	possibly damaging	Het
Spata31d1a	C	T	13: 59,848,138 (GRCm39)	C1330Y	possibly damaging	Het
St18	C	A	1: 6,873,260 (GRCm39)	H332N	possibly damaging	Het
Sycp1	T	A	3: 102,806,250 (GRCm39)	E480D	possibly damaging	Het
Tex14	A	T	11: 87,388,741 (GRCm39)	I323F	probably damaging	Het
Tm7sf2	A	T	19: 6,114,107 (GRCm39)		probably null	Het
Tmem241	G	T	18: 12,246,463 (GRCm39)	H62Q	probably benign	Het
Tmem54	T	A	4: 129,004,594 (GRCm39)		probably null	Het
Tomm34	A	G	2: 163,912,398 (GRCm39)	L39P	probably damaging	Het
Triml2	T	A	8: 43,646,573 (GRCm39)	V354D	probably damaging	Het
Usp19	T	C	9: 108,374,157 (GRCm39)	I738T	possibly damaging	Het
Utp25	A	C	1: 192,803,031 (GRCm39)		probably null	Het
Utrn	T	A	10: 12,702,514 (GRCm39)		probably null	Het
Zfp1005	G	T	2: 150,108,376 (GRCm39)	V46F	possibly 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
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
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'- ACTCTGTTGCTTGCTACAGTG -3'
(R):5'- GCTTAAACAGACACTTGAGTTTGAG -3'

Sequencing Primer
(F):5'- GCTTGCTACAGTGTCTAAATAACCC -3'
(R):5'- CAGGCATTTTTGGAACTGG -3'

Posted On

2019-05-13