Mutagenetix > Incidental Mutation

Incidental Mutation 'R1573:Ptbp2'

170940

Institutional Source

Beutler Lab

Gene Symbol

Ptbp2

Ensembl Gene

ENSMUSG00000028134

Gene Name

polypyrimidine tract binding protein 2

Synonyms

brPTB

MMRRC Submission

039612-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1573 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119512391-119578115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119546754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 43 (D43Y)

Ref Sequence

ENSEMBL: ENSMUSP00000143281 (fasta)

Gene Model

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

AlphaFold

Q91Z31

Predicted Effect

probably benign
Transcript: ENSMUST00000029780
AA Change: D43Y

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029780
Gene: ENSMUSG00000028134
AA Change: D43Y

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: D43Y

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

SMART Domains

Protein: ENSMUSP00000143281
Gene: ENSMUSG00000028134
AA Change: D43Y

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

possibly damaging
Transcript: ENSMUST00000197833
AA Change: D43Y

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143719
Gene: ENSMUSG00000028134
AA Change: D43Y

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: ENSMUST00000198399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199701

Predicted Effect

probably benign
Transcript: ENSMUST00000200097
AA Change: D43Y

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143510
Gene: ENSMUSG00000028134
AA Change: D43Y

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

0.1891

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.1%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,004,445 (GRCm39)		probably benign	Het
Add1	C	G	5: 34,758,740 (GRCm39)	A18G	possibly damaging	Het
Alk	T	C	17: 72,910,113 (GRCm39)	K198E	possibly damaging	Het
Angptl1	T	A	1: 156,684,740 (GRCm39)	L303Q	possibly damaging	Het
Aox1	A	T	1: 58,348,186 (GRCm39)	I635L	probably benign	Het
Atp5mk	T	A	19: 47,074,634 (GRCm39)	Q9L	possibly damaging	Het
Atp8a2	G	T	14: 60,097,655 (GRCm39)	T791K	probably benign	Het
Auts2	T	C	5: 131,469,325 (GRCm39)	K664R	probably damaging	Het
Birc6	T	A	17: 74,967,685 (GRCm39)		probably benign	Het
Cacna1i	C	A	15: 80,277,869 (GRCm39)		probably null	Het
Cacna2d1	T	C	5: 16,575,625 (GRCm39)	F1077L	probably damaging	Het
Camkk1	C	T	11: 72,918,307 (GRCm39)	R52C	probably damaging	Het
Camkmt	T	A	17: 85,403,958 (GRCm39)	V60E	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cbr2	A	T	11: 120,622,791 (GRCm39)	L3Q	possibly damaging	Het
Ccar1	A	T	10: 62,586,434 (GRCm39)	D920E	unknown	Het
Cdc20b	A	G	13: 113,192,478 (GRCm39)	N57S	probably benign	Het
Cep83	G	A	10: 94,624,525 (GRCm39)	E601K	probably damaging	Het
Cldn10	A	T	14: 119,111,080 (GRCm39)	I176L	probably benign	Het
Cpeb2	T	C	5: 43,441,273 (GRCm39)		probably benign	Het
Crb1	A	G	1: 139,265,344 (GRCm39)	S25P	probably damaging	Het
Cyp3a59	A	T	5: 146,039,684 (GRCm39)	Y319F	probably damaging	Het
Dst	C	T	1: 34,240,312 (GRCm39)	S1561F	probably damaging	Het
Dxo	C	T	17: 35,057,270 (GRCm39)	R221C	probably damaging	Het
Dynlt4	A	T	4: 116,985,191 (GRCm39)	T5S	probably benign	Het
Epc2	A	G	2: 49,439,984 (GRCm39)	T801A	possibly damaging	Het
Fndc3a	C	A	14: 72,806,384 (GRCm39)	C373F	probably damaging	Het
Frmpd1	T	C	4: 45,283,932 (GRCm39)	S918P	probably benign	Het
Fuca2	A	G	10: 13,381,587 (GRCm39)	T84A	possibly damaging	Het
Garin4	G	A	1: 190,896,682 (GRCm39)		probably benign	Het
Gmeb1	A	T	4: 131,979,051 (GRCm39)	N21K	probably benign	Het
Htt	T	C	5: 35,021,718 (GRCm39)		probably benign	Het
Igsf1	T	C	X: 48,880,863 (GRCm39)	R251G	possibly damaging	Het
Itih4	A	T	14: 30,619,504 (GRCm39)	H720L	probably benign	Het
Kank4	A	T	4: 98,663,073 (GRCm39)	L705*	probably null	Het
Krt34	A	T	11: 99,931,854 (GRCm39)	S122T	probably benign	Het
L1td1	A	G	4: 98,625,517 (GRCm39)	T571A	probably benign	Het
Lag3	T	C	6: 124,886,210 (GRCm39)	T248A	possibly damaging	Het
Lgi1	T	A	19: 38,272,629 (GRCm39)	H133Q	probably benign	Het
Map1a	A	T	2: 121,134,607 (GRCm39)	T1808S	probably benign	Het
Mcm9	T	C	10: 53,424,752 (GRCm39)	T613A	probably damaging	Het
Meaf6	A	G	4: 124,983,931 (GRCm39)	I111V	probably benign	Het
Mki67	G	A	7: 135,296,845 (GRCm39)	P2730S	possibly damaging	Het
Mlc1	A	C	15: 88,842,350 (GRCm39)	C337G	probably damaging	Het
Mrc2	T	A	11: 105,227,482 (GRCm39)	Y572N	probably damaging	Het
Mterf3	T	C	13: 67,070,967 (GRCm39)	N172S	possibly damaging	Het
Or3a1c	T	A	11: 74,046,196 (GRCm39)	M72K	probably benign	Het
Or4b1	A	T	2: 89,979,068 (GRCm39)		probably benign	Het
Or4c115	T	A	2: 88,928,064 (GRCm39)	D69V	probably damaging	Het
Or5ak4	A	T	2: 85,161,687 (GRCm39)	L185H	probably damaging	Het
Or6c6c	T	C	10: 129,541,487 (GRCm39)	S247P	probably damaging	Het
Padi4	T	G	4: 140,484,881 (GRCm39)	T327P	possibly damaging	Het
Pga5	T	A	19: 10,651,201 (GRCm39)	I151F	probably benign	Het
Pkdrej	G	T	15: 85,702,275 (GRCm39)	D1220E	probably benign	Het
Prokr2	T	A	2: 132,215,684 (GRCm39)	Q259L	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgps2	C	T	1: 156,660,500 (GRCm39)	R237Q	possibly damaging	Het
Rap1gds1	C	A	3: 138,671,624 (GRCm39)		probably null	Het
Saa2	T	A	7: 46,401,716 (GRCm39)	M1K	probably null	Het
Samd9l	T	C	6: 3,375,426 (GRCm39)	I612V	probably damaging	Het
Scn10a	C	T	9: 119,442,692 (GRCm39)	V1518I	probably benign	Het
Serpina6	T	C	12: 103,618,012 (GRCm39)	D267G	probably damaging	Het
Sh2d4b	A	G	14: 40,564,329 (GRCm39)		probably null	Het
Sh3bp2	T	C	5: 34,718,034 (GRCm39)	V505A	probably benign	Het
Smad2	A	G	18: 76,395,657 (GRCm39)	E32G	possibly damaging	Het
Smn1	T	G	13: 100,263,118 (GRCm39)	D32E	probably damaging	Het
Spata31d1c	T	C	13: 65,182,883 (GRCm39)	S142P	possibly damaging	Het
Stk39	A	T	2: 68,221,293 (GRCm39)	I210N	probably damaging	Het
Tcte2	A	G	17: 13,937,899 (GRCm39)		probably benign	Het
Tctn3	C	A	19: 40,597,361 (GRCm39)	E230*	probably null	Het
Tenm2	A	T	11: 35,937,896 (GRCm39)	H1592Q	probably damaging	Het
Tescl	A	G	7: 24,032,668 (GRCm39)	V219A	probably damaging	Het
Tgm6	C	T	2: 129,993,660 (GRCm39)	S633L	probably benign	Het
Tmcc1	C	T	6: 116,110,924 (GRCm39)	S123N	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ulk2	G	A	11: 61,670,581 (GRCm39)	R992C	probably damaging	Het
Vwa5b1	G	A	4: 138,332,184 (GRCm39)	H278Y	probably damaging	Het
Wwp2	C	T	8: 108,275,121 (GRCm39)	R373W	probably damaging	Het
Zfp24	A	T	18: 24,150,399 (GRCm39)	D170E	possibly damaging	Het
Zfp808	T	C	13: 62,319,311 (GRCm39)	I180T	possibly damaging	Het
Zfp820	T	A	17: 22,037,737 (GRCm39)	Q530H	probably benign	Het
Zfp975	A	T	7: 42,311,507 (GRCm39)	Y369N	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
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
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'- AGGTGACAGATAAGCCTCCTTCTGTG -3'
(R):5'- GGGAGCCTGCTGTATCACTTAACTTG -3'

Sequencing Primer
(F):5'- GCTAGTAGTAACGCTTGTGC -3'
(R):5'- CATAGACTGCACATGGCTTG -3'

Posted On

2014-04-13