Mutagenetix > Incidental Mutation

Incidental Mutation 'R4869:Ptbp3'

376394

Institutional Source

Beutler Lab

Gene Symbol

Ptbp3

Ensembl Gene

ENSMUSG00000028382

Gene Name

polypyrimidine tract binding protein 3

Synonyms

Rod1, 5830471K22Rik

MMRRC Submission

042479-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

R4869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59471868-59549288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59524443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 28 (I28F)

Ref Sequence

ENSEMBL: ENSMUSP00000122138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030076] [ENSMUST00000102883] [ENSMUST00000134879] [ENSMUST00000140925] [ENSMUST00000148331] [ENSMUST00000172768] [ENSMUST00000173699] [ENSMUST00000174748] [ENSMUST00000174586] [ENSMUST00000173884]

AlphaFold

Q8BHD7

Predicted Effect

probably benign
Transcript: ENSMUST00000030076

SMART Domains

Protein: ENSMUSP00000030076
Gene: ENSMUSG00000028382

Domain	Start	End	E-Value	Type
RRM	31	100	2.24e-3	SMART
low complexity region	115	130	N/A	INTRINSIC
RRM	154	223	2.51e-6	SMART
low complexity region	277	293	N/A	INTRINSIC
RRM	330	399	2.13e-9	SMART
RRM	447	517	1.29e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102883
AA Change: I26F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099947
Gene: ENSMUSG00000028382
AA Change: I26F

Domain	Start	End	E-Value	Type
RRM	59	128	2.24e-3	SMART
low complexity region	143	158	N/A	INTRINSIC
RRM	182	251	2.51e-6	SMART
low complexity region	305	321	N/A	INTRINSIC
RRM	358	427	2.13e-9	SMART
RRM	475	545	1.29e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134879

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140925
AA Change: I28F

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122138
Gene: ENSMUSG00000028382
AA Change: I28F

Domain	Start	End	E-Value	Type
SCOP:d1qm9a2	53	99	2e-4	SMART
PDB:2CQ1\|A	54	101	8e-19	PDB
Blast:RRM	64	100	4e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000148331

SMART Domains

Protein: ENSMUSP00000122840
Gene: ENSMUSG00000028382

Domain	Start	End	E-Value	Type
RRM	28	97	2.24e-3	SMART
low complexity region	112	127	N/A	INTRINSIC
RRM	151	220	2.51e-6	SMART
low complexity region	274	290	N/A	INTRINSIC
RRM	327	396	2.13e-9	SMART
RRM	444	514	1.29e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172768

SMART Domains

Protein: ENSMUSP00000134102
Gene: ENSMUSG00000028382

Domain	Start	End	E-Value	Type
RRM	28	97	2.24e-3	SMART
low complexity region	112	127	N/A	INTRINSIC
RRM	151	220	2.51e-6	SMART
low complexity region	274	290	N/A	INTRINSIC
RRM	327	396	2.13e-9	SMART
RRM	444	514	1.29e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173699

SMART Domains

Protein: ENSMUSP00000134290
Gene: ENSMUSG00000028382

Domain	Start	End	E-Value	Type
PDB:2CQ1\|A	2	44	7e-18	PDB
low complexity region	49	64	N/A	INTRINSIC
RRM	88	157	2.51e-6	SMART
low complexity region	211	227	N/A	INTRINSIC
RRM	264	333	2.13e-9	SMART
RRM	381	451	1.29e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174748
AA Change: I26F

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000174586
AA Change: I26F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000133612
Gene: ENSMUSG00000028382
AA Change: I26F

Domain	Start	End	E-Value	Type
RRM	62	131	2.24e-3	SMART
low complexity region	146	161	N/A	INTRINSIC
RRM	185	254	2.51e-6	SMART
low complexity region	308	324	N/A	INTRINSIC
RRM	361	430	2.13e-9	SMART
RRM	478	548	1.29e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173884

SMART Domains

Protein: ENSMUSP00000133996
Gene: ENSMUSG00000028382

Domain	Start	End	E-Value	Type
low complexity region	16	28	N/A	INTRINSIC
RRM	52	121	2.51e-6	SMART

Meta Mutation Damage Score

0.0891

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (102/103)

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 RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

All alleles(6) : Gene trapped(6)

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,161,488 (GRCm39)	K943N	probably damaging	Het
Abca13	G	A	11: 9,265,434 (GRCm39)		probably null	Het
Ankub1	A	G	3: 57,597,751 (GRCm39)	L73P	probably damaging	Het
Birc6	A	G	17: 74,893,007 (GRCm39)	I982V	probably benign	Het
Cabyr	G	T	18: 12,884,875 (GRCm39)	*454L	probably null	Het
Ccdc57	C	T	11: 120,794,344 (GRCm39)		probably null	Het
Cd209c	A	G	8: 3,994,077 (GRCm39)	F128L	probably benign	Het
Cdh23	A	T	10: 60,212,713 (GRCm39)	I1566N	probably damaging	Het
Cdon	T	C	9: 35,364,200 (GRCm39)	V106A	possibly damaging	Het
Cebpa	G	T	7: 34,819,246 (GRCm39)	G135C	probably damaging	Het
Cfap65	A	G	1: 74,958,420 (GRCm39)	S896P	probably benign	Het
Ciz1	T	C	2: 32,254,247 (GRCm39)	S63P	probably damaging	Het
Clybl	G	A	14: 122,621,618 (GRCm39)	V269M	probably damaging	Het
Ctnnb1	G	T	9: 120,782,060 (GRCm39)	V358L	possibly damaging	Het
Cwh43	G	T	5: 73,586,016 (GRCm39)		probably null	Het
Cyp2d10	G	A	15: 82,287,967 (GRCm39)	R379C	probably benign	Het
Dab2ip	C	A	2: 35,610,049 (GRCm39)	R727S	probably damaging	Het
Dmrt1	T	A	19: 25,483,219 (GRCm39)	M1K	probably null	Het
Dock1	A	T	7: 134,335,800 (GRCm39)	I65F	probably damaging	Het
Ercc2	T	C	7: 19,120,732 (GRCm39)	V155A	probably damaging	Het
Exph5	A	C	9: 53,287,539 (GRCm39)	D1540A	possibly damaging	Het
Fat3	T	A	9: 16,288,773 (GRCm39)	H250L	probably damaging	Het
Fbxw10	C	A	11: 62,753,557 (GRCm39)	A517E	probably damaging	Het
Furin	A	T	7: 80,046,727 (GRCm39)	N176K	probably damaging	Het
Gabrb3	A	G	7: 57,442,207 (GRCm39)		probably benign	Het
Gabrg2	A	T	11: 41,811,231 (GRCm39)	S305T	probably damaging	Het
Gas6	G	T	8: 13,525,086 (GRCm39)	S299R	possibly damaging	Het
Gga3	G	T	11: 115,477,111 (GRCm39)		probably benign	Het
Gle1	A	G	2: 29,826,032 (GRCm39)	E37G	possibly damaging	Het
Gm7964	A	G	7: 83,405,350 (GRCm39)	D80G	possibly damaging	Het
Gne	C	T	4: 44,055,204 (GRCm39)		probably null	Het
Grid2	G	T	6: 64,406,724 (GRCm39)	G695W	probably damaging	Het
H2-M10.6	A	T	17: 37,123,425 (GRCm39)	M40L	probably benign	Het
Hectd4	G	T	5: 121,460,735 (GRCm39)	V905L	possibly damaging	Het
Isyna1	C	A	8: 71,049,412 (GRCm39)	S441R	possibly damaging	Het
Kcnh3	C	T	15: 99,139,913 (GRCm39)	S933L	probably benign	Het
Knl1	T	C	2: 118,902,832 (GRCm39)	I1511T	possibly damaging	Het
Krt73	T	C	15: 101,704,833 (GRCm39)	E351G	probably damaging	Het
Lipo4	C	T	19: 33,478,953 (GRCm39)		probably null	Het
Llgl1	T	A	11: 60,598,036 (GRCm39)	L360*	probably null	Het
Map2k5	G	A	9: 63,229,525 (GRCm39)	R169*	probably null	Het
Muc19	A	T	15: 91,781,910 (GRCm39)		noncoding transcript	Het
Muc4	G	A	16: 32,754,836 (GRCm38)		probably benign	Het
Myh4	A	G	11: 67,143,490 (GRCm39)	E1074G	probably damaging	Het
Naip5	C	T	13: 100,381,639 (GRCm39)	G210E	probably damaging	Het
Nalcn	A	G	14: 123,837,296 (GRCm39)	S23P	probably benign	Het
Nepro	T	A	16: 44,550,536 (GRCm39)	M176K	probably damaging	Het
Nlrp6	G	A	7: 140,504,006 (GRCm39)	C704Y	probably damaging	Het
Notch1	A	G	2: 26,361,191 (GRCm39)	S1100P	probably benign	Het
Nrxn3	A	G	12: 88,762,352 (GRCm39)	E133G	possibly damaging	Het
Obi1	A	G	14: 104,716,252 (GRCm39)	I707T	probably damaging	Het
Parp9	T	C	16: 35,777,274 (GRCm39)	L406S	probably damaging	Het
Peak1	G	T	9: 56,134,876 (GRCm39)	A155D	probably benign	Het
Piezo1	G	A	8: 123,214,284 (GRCm39)	H1628Y	probably benign	Het
Piwil2	A	G	14: 70,632,811 (GRCm39)	V587A	probably benign	Het
Pkn2	A	G	3: 142,509,379 (GRCm39)	Y722H	probably damaging	Het
Plch2	A	T	4: 155,073,885 (GRCm39)	I834K	probably benign	Het
Pld1	A	G	3: 28,163,951 (GRCm39)	T795A	possibly damaging	Het
Plekhh1	A	G	12: 79,097,160 (GRCm39)	S103G	probably benign	Het
Ppl	T	C	16: 4,922,753 (GRCm39)	Y246C	probably damaging	Het
Prpf40b	G	A	15: 99,207,726 (GRCm39)		probably benign	Het
Prr14l	A	G	5: 32,986,177 (GRCm39)	L1106P	probably damaging	Het
Ptrh2	A	T	11: 86,580,631 (GRCm39)	K83*	probably null	Het
Rai1	T	C	11: 60,077,588 (GRCm39)	S551P	probably damaging	Het
Rapgefl1	A	T	11: 98,741,935 (GRCm39)	Q633L	probably damaging	Het
Rb1cc1	T	C	1: 6,285,245 (GRCm39)		probably benign	Het
Rif1	T	A	2: 51,983,623 (GRCm39)		probably benign	Het
Rnf141	A	G	7: 110,424,557 (GRCm39)	Y101H	probably damaging	Het
Rttn	T	A	18: 89,061,138 (GRCm39)	L1102*	probably null	Het
Sall4	G	A	2: 168,597,637 (GRCm39)	S401F	probably damaging	Het
Saxo5	G	A	8: 3,537,148 (GRCm39)	S498N	probably damaging	Het
Sec11c	T	C	18: 65,934,541 (GRCm39)	I36T	probably benign	Het
Sel1l	A	G	12: 91,780,828 (GRCm39)		probably benign	Het
Setd1a	T	C	7: 127,396,776 (GRCm39)		probably benign	Het
Sez6l2	C	T	7: 126,561,014 (GRCm39)	P433L	probably benign	Het
Sgf29	T	C	7: 126,248,547 (GRCm39)		probably benign	Het
Slc47a1	A	G	11: 61,253,520 (GRCm39)	V305A	probably benign	Het
Slco1a8	T	C	6: 141,933,492 (GRCm39)	D431G	probably damaging	Het
Sun2	T	C	15: 79,612,587 (GRCm39)		probably benign	Het
Tecta	T	C	9: 42,286,830 (GRCm39)	S609G	probably benign	Het
Tmprss6	T	A	15: 78,327,880 (GRCm39)		probably null	Het
Tns1	T	C	1: 73,991,774 (GRCm39)	H968R	probably benign	Het
Tomm34	G	A	2: 163,896,637 (GRCm39)	A270V	probably damaging	Het
Tpo	T	C	12: 30,153,364 (GRCm39)	K330R	probably benign	Het
Ttn	T	A	2: 76,542,837 (GRCm39)	Y33383F	probably damaging	Het
Unc13c	G	T	9: 73,587,716 (GRCm39)	A1439D	probably benign	Het
Vcp	C	T	4: 42,993,691 (GRCm39)	R147H	probably benign	Het
Vps13d	A	G	4: 144,854,612 (GRCm39)	L2272P	probably damaging	Het
Wdfy3	A	G	5: 102,042,787 (GRCm39)	L1988P	probably damaging	Het
Wwc2	A	G	8: 48,373,713 (GRCm39)	F51S	probably damaging	Het
Zfp454	C	T	11: 50,763,980 (GRCm39)	C373Y	probably damaging	Het
Zfp853	A	T	5: 143,274,048 (GRCm39)	V473E	probably damaging	Het
Zfp959	A	T	17: 56,204,228 (GRCm39)	R85S	possibly damaging	Het

Other mutations in Ptbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00932:Ptbp3	APN	4	59,477,228 (GRCm39)	missense	probably benign	0.29
IGL03035:Ptbp3	APN	4	59,477,218 (GRCm39)	missense	probably benign	0.00
IGL03118:Ptbp3	APN	4	59,501,470 (GRCm39)	missense	probably benign	0.03
IGL03257:Ptbp3	APN	4	59,493,370 (GRCm39)	splice site	probably benign
IGL03279:Ptbp3	APN	4	59,476,937 (GRCm39)	missense	possibly damaging	0.68
R0557:Ptbp3	UTSW	4	59,517,684 (GRCm39)	nonsense	probably null
R1741:Ptbp3	UTSW	4	59,482,624 (GRCm39)	missense	probably damaging	0.98
R1914:Ptbp3	UTSW	4	59,517,635 (GRCm39)	missense	probably damaging	1.00
R1915:Ptbp3	UTSW	4	59,517,635 (GRCm39)	missense	probably damaging	1.00
R2679:Ptbp3	UTSW	4	59,494,615 (GRCm39)	splice site	probably benign
R3798:Ptbp3	UTSW	4	59,546,166 (GRCm39)	missense	probably benign	0.05
R4793:Ptbp3	UTSW	4	59,514,297 (GRCm39)	missense	possibly damaging	0.71
R5573:Ptbp3	UTSW	4	59,485,626 (GRCm39)	missense	probably damaging	1.00
R5986:Ptbp3	UTSW	4	59,493,311 (GRCm39)	missense	probably benign	0.37
R6350:Ptbp3	UTSW	4	59,482,624 (GRCm39)	missense	probably damaging	0.98
R6659:Ptbp3	UTSW	4	59,517,640 (GRCm39)	missense	probably damaging	1.00
R7283:Ptbp3	UTSW	4	59,514,384 (GRCm39)	missense	probably benign	0.00
R7523:Ptbp3	UTSW	4	59,546,159 (GRCm39)	missense	probably benign
R7566:Ptbp3	UTSW	4	59,514,280 (GRCm39)	missense	probably benign	0.03
R8807:Ptbp3	UTSW	4	59,517,584 (GRCm39)	missense	probably benign
YA93:Ptbp3	UTSW	4	59,524,413 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TGGTGGACCCATTCCTAAATTTC -3'
(R):5'- GGTACTTGCAAAATTATGTCCCAAG -3'

Sequencing Primer
(F):5'- GGACCCATTCCTAAATTTCTTCAAC -3'
(R):5'- ATTAATTGAGTGCTCATTCTG -3'

Posted On

2016-03-17