Mutagenetix > Incidental Mutation

Incidental Mutation 'R2679:Ptbp3'

250730

Institutional Source

Beutler Lab

Gene Symbol

Ptbp3

Ensembl Gene

ENSMUSG00000028382

Gene Name

polypyrimidine tract binding protein 3

Synonyms

Rod1, 5830471K22Rik

MMRRC Submission

040432-MU

Accession Numbers

Essential gene?

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

Stock #

R2679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59471868-59549288 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 59494615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030076] [ENSMUST00000102883] [ENSMUST00000134879] [ENSMUST00000148331] [ENSMUST00000172471] [ENSMUST00000172768] [ENSMUST00000173699] [ENSMUST00000174586] [ENSMUST00000173884] [ENSMUST00000174748]

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

SMART Domains

Protein: ENSMUSP00000099947
Gene: ENSMUSG00000028382

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

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: ENSMUST00000172471

SMART Domains

Protein: ENSMUSP00000133886
Gene: ENSMUSG00000028382

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 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

probably benign
Transcript: ENSMUST00000174586

SMART Domains

Protein: ENSMUSP00000133612
Gene: ENSMUSG00000028382

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174748

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (67/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic2	A	G	11: 81,042,780 (GRCm39)	V171A	probably benign	Het
Atf7ip	A	T	6: 136,543,649 (GRCm39)	I641L	possibly damaging	Het
Atrn	G	A	2: 130,803,595 (GRCm39)		probably null	Het
Bpifb4	T	C	2: 153,790,544 (GRCm39)	I145T	probably damaging	Het
Bub3	A	G	7: 131,170,454 (GRCm39)		probably null	Het
Catsperb	T	A	12: 101,429,404 (GRCm39)	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,944,613 (GRCm39)	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,901,079 (GRCm39)	Q998K	probably benign	Het
Cep135	A	T	5: 76,772,507 (GRCm39)	M631L	probably benign	Het
Cit	T	C	5: 116,107,174 (GRCm39)	V1102A	probably benign	Het
Col4a4	G	A	1: 82,507,332 (GRCm39)	T249M	unknown	Het
Cpne6	A	T	14: 55,753,786 (GRCm39)	I415F	possibly damaging	Het
Cyp4b1	T	C	4: 115,485,894 (GRCm39)	I348V	probably benign	Het
Defb28	T	C	2: 152,360,202 (GRCm39)	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,743,344 (GRCm39)		probably benign	Het
Dhx29	T	C	13: 113,083,910 (GRCm39)		probably null	Het
Egfem1	A	G	3: 29,724,825 (GRCm39)	T476A	probably benign	Het
Enpp5	A	G	17: 44,396,279 (GRCm39)	D397G	probably damaging	Het
Eogt	G	A	6: 97,097,761 (GRCm39)	T279I	probably benign	Het
Fnip2	G	A	3: 79,388,233 (GRCm39)	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435 (GRCm39)	T92S	probably damaging	Het
Gm10110	T	A	14: 90,134,852 (GRCm39)		noncoding transcript	Het
Gria2	A	G	3: 80,648,260 (GRCm39)		probably benign	Het
Hmcn1	G	T	1: 150,528,326 (GRCm39)	T3274N	possibly damaging	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hspa1b	T	C	17: 35,176,279 (GRCm39)	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,916,372 (GRCm39)	Y46C	probably damaging	Het
Itga3	A	T	11: 94,959,136 (GRCm39)		probably benign	Het
Lrrc7	T	A	3: 157,880,745 (GRCm39)	R552*	probably null	Het
Med13	A	G	11: 86,189,403 (GRCm39)	S1169P	probably benign	Het
Muc4	T	A	16: 32,577,846 (GRCm39)	D2374E	unknown	Het
Myl9	T	A	2: 156,622,426 (GRCm39)	L70Q	probably damaging	Het
Nebl	C	T	2: 17,429,402 (GRCm39)	S243N	probably benign	Het
Nfat5	A	G	8: 108,071,546 (GRCm39)	Y314C	probably damaging	Het
Nr2f6	T	A	8: 71,827,380 (GRCm39)	D307V	probably damaging	Het
Nrp2	T	C	1: 62,824,237 (GRCm39)	S781P	probably benign	Het
Nub1	C	T	5: 24,897,923 (GRCm39)	T103I	possibly damaging	Het
Or4b1d	A	T	2: 89,968,889 (GRCm39)	V198D	possibly damaging	Het
Or51h5	T	A	7: 102,577,238 (GRCm39)	Y134*	probably null	Het
Pex5l	A	T	3: 33,136,201 (GRCm39)	M6K	probably benign	Het
Pgm3	A	C	9: 86,451,374 (GRCm39)	C93W	probably benign	Het
Pkhd1	A	G	1: 20,279,406 (GRCm39)	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,408,782 (GRCm39)	L2423P	probably damaging	Het
Prkce	A	G	17: 86,483,654 (GRCm39)		probably benign	Het
Ptgis	T	A	2: 167,050,113 (GRCm39)	M339L	probably benign	Het
Pxdn	T	C	12: 30,025,568 (GRCm39)		probably benign	Het
Rab44	T	A	17: 29,363,451 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,581,430 (GRCm39)	S1275G	probably benign	Het
Rnf213	C	A	11: 119,350,764 (GRCm39)		probably null	Het
Rtn4rl1	A	T	11: 75,156,552 (GRCm39)	E328V	probably benign	Het
Saraf	C	T	8: 34,632,428 (GRCm39)	T169I	probably damaging	Het
Sbk2	T	A	7: 4,960,119 (GRCm39)		probably null	Het
Setd1a	T	G	7: 127,394,896 (GRCm39)		probably benign	Het
Sit1	A	G	4: 43,483,157 (GRCm39)	Y73H	probably damaging	Het
Slc44a4	T	C	17: 35,142,399 (GRCm39)		probably benign	Het
Spopfm1	A	T	3: 94,173,217 (GRCm39)	Y75F	probably damaging	Het
Tas2r125	A	G	6: 132,887,190 (GRCm39)	T193A	probably benign	Het
Tbc1d9b	T	A	11: 50,052,528 (GRCm39)		probably null	Het
Tcf7l1	G	T	6: 72,604,403 (GRCm39)	H580Q	probably benign	Het
Tead1	T	G	7: 112,456,053 (GRCm39)	S115A	probably damaging	Het
Top2b	G	A	14: 16,413,947 (GRCm38)	G29D	probably damaging	Het
Trpv4	A	T	5: 114,773,613 (GRCm39)	C250S	probably damaging	Het
U2surp	A	C	9: 95,358,285 (GRCm39)	I655S	possibly damaging	Het
Ube2a	G	A	X: 36,138,360 (GRCm39)		probably benign	Het
Ubl7	A	G	9: 57,821,882 (GRCm39)	D77G	probably damaging	Het
Vmn1r91	T	C	7: 19,835,983 (GRCm39)	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,933,131 (GRCm39)	R230S	possibly damaging	Het
Wdfy3	T	A	5: 102,017,902 (GRCm39)	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,973,895 (GRCm39)	A341V	probably benign	Het
Zfp512	C	T	5: 31,622,798 (GRCm39)	A33V	probably benign	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
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'- GTGGTTACAAAAGTAATGAGGTCACAC -3'
(R):5'- TGCCTGTGATCCAGCACTAG -3'

Sequencing Primer
(F):5'- TGAGGTCACACATAATTAGGCAC -3'
(R):5'- CCTGTGATCCAGCACTAGAAGGG -3'

Posted On

2014-12-04