Mutagenetix > Incidental Mutation

Incidental Mutation 'R1741:Ptbp3'

200332

Institutional Source

Beutler Lab

Gene Symbol

Ptbp3

Ensembl Gene

ENSMUSG00000028382

Gene Name

polypyrimidine tract binding protein 3

Synonyms

Rod1, 5830471K22Rik

MMRRC Submission

039773-MU

Accession Numbers

Essential gene?

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

Stock #

R1741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59471868-59549288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59482624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 386 (D386E)

Ref Sequence

ENSEMBL: ENSMUSP00000133612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030076] [ENSMUST00000102883] [ENSMUST00000148331] [ENSMUST00000172471] [ENSMUST00000172768] [ENSMUST00000173699] [ENSMUST00000174586] [ENSMUST00000174748]

AlphaFold

Q8BHD7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030076
AA Change: D355E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030076
Gene: ENSMUSG00000028382
AA Change: D355E

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 damaging
Transcript: ENSMUST00000102883
AA Change: D383E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099947
Gene: ENSMUSG00000028382
AA Change: D383E

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 damaging
Transcript: ENSMUST00000148331
AA Change: D352E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122840
Gene: ENSMUSG00000028382
AA Change: D352E

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 damaging
Transcript: ENSMUST00000172471
AA Change: D117E

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133886
Gene: ENSMUSG00000028382
AA Change: D117E

Domain	Start	End	E-Value	Type
PDB:1SJR\|A	1	34	2e-11	PDB
Blast:RRM_2	1	37	6e-9	BLAST
low complexity region	44	64	N/A	INTRINSIC
RRM	92	161	2.13e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172768
AA Change: D352E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134102
Gene: ENSMUSG00000028382
AA Change: D352E

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

noncoding transcript
Transcript: ENSMUST00000173268

Predicted Effect

probably damaging
Transcript: ENSMUST00000173699
AA Change: D289E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134290
Gene: ENSMUSG00000028382
AA Change: D289E

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

probably damaging
Transcript: ENSMUST00000174586
AA Change: D386E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133612
Gene: ENSMUSG00000028382
AA Change: D386E

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: ENSMUST00000174748

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 92.9%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	A	G	18: 52,793,578 (GRCm39)	N37S	probably damaging	Het
Acad10	T	C	5: 121,785,899 (GRCm39)	K230R	probably damaging	Het
Actl7a	A	G	4: 56,744,252 (GRCm39)	N260D	probably benign	Het
Adam24	T	C	8: 41,132,642 (GRCm39)	Y37H	probably benign	Het
Ahcy	G	A	2: 154,906,154 (GRCm39)	A229V	probably benign	Het
Ap3b2	A	G	7: 81,117,347 (GRCm39)	V563A	possibly damaging	Het
Bcl9l	T	A	9: 44,420,986 (GRCm39)	M1427K	probably damaging	Het
Btf3	C	T	13: 98,452,804 (GRCm39)	M1I	probably null	Het
Btg4	A	T	9: 51,027,910 (GRCm39)	I27L	probably benign	Het
Ccdc171	A	G	4: 83,539,076 (GRCm39)	Y366C	probably damaging	Het
Chd3	A	G	11: 69,246,480 (GRCm39)	Y1085H	probably damaging	Het
Cnot10	T	C	9: 114,426,892 (GRCm39)	D616G	possibly damaging	Het
Crlf1	C	A	8: 70,953,556 (GRCm39)	D243E	probably damaging	Het
Cyp2b23	A	G	7: 26,372,502 (GRCm39)	V371A	possibly damaging	Het
Dennd2a	A	G	6: 39,470,091 (GRCm39)	S534P	probably damaging	Het
Eln	A	G	5: 134,758,038 (GRCm39)	V185A	unknown	Het
Epor	C	T	9: 21,871,067 (GRCm39)	G301D	probably damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fbxl21	A	T	13: 56,684,915 (GRCm39)	T340S	probably benign	Het
Fcgbpl1	G	T	7: 27,857,279 (GRCm39)	C2209F	probably damaging	Het
Fez1	T	A	9: 36,755,029 (GRCm39)	D9E	probably damaging	Het
Fsip2	T	C	2: 82,820,256 (GRCm39)	F5330L	probably benign	Het
Glis1	G	A	4: 107,425,544 (GRCm39)	R197Q	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gpr158	A	G	2: 21,832,359 (GRCm39)	N1153S	probably benign	Het
Gramd4	T	C	15: 85,975,730 (GRCm39)		probably null	Het
Hhatl	T	A	9: 121,618,125 (GRCm39)	Y210F	possibly damaging	Het
Hltf	T	C	3: 20,140,352 (GRCm39)	W422R	probably damaging	Het
Hspa5	T	C	2: 34,662,704 (GRCm39)	S87P	possibly damaging	Het
Il21	T	C	3: 37,281,811 (GRCm39)	H111R	probably benign	Het
Ip6k1	G	A	9: 107,918,183 (GRCm39)	G73S	probably benign	Het
Kdm5b	A	G	1: 134,545,755 (GRCm39)	D972G	possibly damaging	Het
Kif21b	C	T	1: 136,083,880 (GRCm39)	A709V	probably damaging	Het
Kmt2d	T	C	15: 98,743,115 (GRCm39)		probably benign	Het
Lrrc14b	A	G	13: 74,511,705 (GRCm39)	L125P	probably damaging	Het
Mapk8ip3	A	G	17: 25,118,828 (GRCm39)	S1169P	probably damaging	Het
Me3	A	T	7: 89,501,041 (GRCm39)	Y584F	probably damaging	Het
Mxra7	T	G	11: 116,707,070 (GRCm39)		probably null	Het
Nf1	T	C	11: 79,334,757 (GRCm39)	S870P	probably benign	Het
Npr2	G	A	4: 43,643,350 (GRCm39)	G525S	probably damaging	Het
Nyap1	A	T	5: 137,731,387 (GRCm39)	S726T	probably damaging	Het
Padi4	A	G	4: 140,473,481 (GRCm39)	V652A	probably damaging	Het
Pclo	A	G	5: 14,726,524 (GRCm39)		probably benign	Het
Pgm1	G	A	4: 99,822,062 (GRCm39)		probably null	Het
Piezo2	A	G	18: 63,154,244 (GRCm39)	S2512P	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpn3	A	G	4: 57,254,922 (GRCm39)	V154A	probably damaging	Het
Rassf4	T	C	6: 116,616,450 (GRCm39)	E287G	probably damaging	Het
Rnh1	C	T	7: 140,743,936 (GRCm39)	R174H	probably benign	Het
Scn9a	T	A	2: 66,317,938 (GRCm39)	I1517F	probably damaging	Het
Sftpb	C	A	6: 72,282,797 (GRCm39)	A90E	probably benign	Het
Slc39a14	T	C	14: 70,556,193 (GRCm39)	K61R	probably damaging	Het
Tmem132d	A	C	5: 127,861,922 (GRCm39)	M733R	probably benign	Het
Tmem248	A	G	5: 130,265,664 (GRCm39)	I156V	probably benign	Het
Traf2	T	C	2: 25,414,495 (GRCm39)	D339G	probably damaging	Het
Trappc11	A	G	8: 47,982,362 (GRCm39)		probably null	Het
Tuba8	T	A	6: 121,199,727 (GRCm39)	I137N	possibly damaging	Het
Txlnb	A	G	10: 17,714,695 (GRCm39)	T376A	probably damaging	Het
Usp34	A	G	11: 23,314,103 (GRCm39)	T663A	probably benign	Het
Vmn2r26	T	A	6: 124,038,431 (GRCm39)	F669I	probably damaging	Het
Wdr95	G	A	5: 149,518,861 (GRCm39)		probably null	Het
Wfdc8	T	G	2: 164,450,789 (GRCm39)		probably benign	Het
Zfp64	A	C	2: 168,768,238 (GRCm39)	V458G	probably benign	Het
Zfp868	C	T	8: 70,064,519 (GRCm39)	G272D	probably 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
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
R4869:Ptbp3	UTSW	4	59,524,443 (GRCm39)	missense	possibly damaging	0.79
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'- GCTGCTGCAAAACTACATCCGTACC -3'
(R):5'- TCTTTAGCCAGGGATACCCAACACC -3'

Sequencing Primer
(F):5'- TCCGTACCAGTTCTACAACG -3'
(R):5'- ATGTGACAGGGATTGAATCCATTG -3'

Posted On

2014-05-23