Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03118:Ptbp3'

409885

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptbp3

Ensembl Gene

ENSMUSG00000028382

Gene Name

polypyrimidine tract binding protein 3

Synonyms

Rod1, 5830471K22Rik

Accession Numbers

Genbank: NM_144904; MGI: 1923334; Ensembl: ENSMUST00000030076

Essential gene?

Possibly non essential (E-score: 0.358) question?

Stock #

IGL03118

Quality Score

Status

Chromosome

Chromosomal Location

59471868-59549364 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59501470 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 149 (A149V)

Ref Sequence

ENSEMBL: ENSMUSP00000133612 (fasta)

Gene Model

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

AlphaFold

Q8BHD7

Predicted Effect

probably benign
Transcript: ENSMUST00000030076
AA Change: A118V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030076
Gene: ENSMUSG00000028382
AA Change: A118V

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: A146V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000099947
Gene: ENSMUSG00000028382
AA Change: A146V

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

unknown
Transcript: ENSMUST00000134879
AA Change: P5S

Predicted Effect

probably benign
Transcript: ENSMUST00000148331
AA Change: A115V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000122840
Gene: ENSMUSG00000028382
AA Change: A115V

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: ENSMUST00000151313

Predicted Effect

probably benign
Transcript: ENSMUST00000172768
AA Change: A115V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000134102
Gene: ENSMUSG00000028382
AA Change: A115V

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
AA Change: A52V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134290
Gene: ENSMUSG00000028382
AA Change: A52V

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

unknown
Transcript: ENSMUST00000173884
AA Change: A16V

SMART Domains

Protein: ENSMUSP00000133996
Gene: ENSMUSG00000028382
AA Change: A16V

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: ENSMUST00000174586
AA Change: A149V

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133612
Gene: ENSMUSG00000028382
AA Change: A149V

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,400,450	G921S	probably benign	Het
Abca8b	T	C	11: 109,947,181	T1082A	possibly damaging	Het
AF366264	C	T	8: 13,838,096		probably benign	Het
B9d2	T	C	7: 25,681,476		probably null	Het
Bfsp1	T	C	2: 143,827,333	E442G	possibly damaging	Het
Bpifb5	C	T	2: 154,236,753		probably benign	Het
Ccl1	A	G	11: 82,178,070	I47T	probably damaging	Het
Cln3	T	C	7: 126,575,397	I285V	probably null	Het
Cyp4a12b	G	T	4: 115,432,976	R242I	possibly damaging	Het
Dcc	T	C	18: 71,420,273	T771A	probably benign	Het
Erbb4	T	C	1: 68,042,719	D1052G	probably benign	Het
Fcnb	T	C	2: 28,076,618	N301S	probably benign	Het
Gm28043	A	C	17: 29,634,731	E403A	probably damaging	Het
Gria4	A	G	9: 4,793,804		probably benign	Het
Ighv5-12	T	A	12: 113,702,578	M1L	probably benign	Het
Il17rd	A	G	14: 27,093,395		probably null	Het
Kcnn3	T	A	3: 89,667,161	L660Q	probably damaging	Het
Lcor	C	T	19: 41,558,369	P131S	probably damaging	Het
Leng1	T	C	7: 3,665,410	N13S	probably damaging	Het
Loxhd1	T	C	18: 77,380,464	V827A	probably damaging	Het
Mapk13	A	G	17: 28,777,735	Y208C	probably benign	Het
Mybpc3	T	C	2: 91,124,503	V453A	probably damaging	Het
Odam	T	C	5: 87,885,754	S15P	unknown	Het
Olfr26	A	T	9: 38,855,230	H56L	probably damaging	Het
Olfr323	A	T	11: 58,625,443	V201D	probably damaging	Het
Pcdhb19	T	C	18: 37,499,565		probably benign	Het
Per2	G	T	1: 91,444,619	Y244*	probably null	Het
Pik3ca	A	T	3: 32,459,935	I857F	probably damaging	Het
Pold1	T	A	7: 44,539,400	I447F	probably benign	Het
Ppm1f	T	A	16: 16,914,078	W131R	probably null	Het
Ppp2r2c	A	G	5: 36,926,316	Y67C	probably damaging	Het
Psmb10	A	T	8: 105,936,900	H155Q	probably damaging	Het
Pygb	T	A	2: 150,820,811	V566E	probably benign	Het
Rictor	G	A	15: 6,759,518	R205Q	possibly damaging	Het
Ryr1	T	A	7: 29,015,786	R4638W	unknown	Het
Sept3	G	A	15: 82,284,514		probably null	Het
Serpina3b	A	T	12: 104,131,054	D198V	probably benign	Het
Slc27a6	C	A	18: 58,556,743	H94N	probably benign	Het
Taf2	C	T	15: 55,052,163	V456M	probably damaging	Het
Tbpl2	T	C	2: 24,087,289	E238G	probably benign	Het
Ttn	C	T	2: 76,754,207	V20440I	possibly damaging	Het
Zfp638	T	A	6: 83,935,018		probably benign	Het
Zfp865	T	C	7: 5,034,645		probably benign	Het

Other mutations in Ptbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00932:Ptbp3	APN	4	59477228	missense	probably benign	0.29
IGL03035:Ptbp3	APN	4	59477218	missense	probably benign	0.00
IGL03257:Ptbp3	APN	4	59493370	splice site	probably benign
IGL03279:Ptbp3	APN	4	59476937	missense	possibly damaging	0.68
R0557:Ptbp3	UTSW	4	59517684	nonsense	probably null
R1741:Ptbp3	UTSW	4	59482624	missense	probably damaging	0.98
R1914:Ptbp3	UTSW	4	59517635	missense	probably damaging	1.00
R1915:Ptbp3	UTSW	4	59517635	missense	probably damaging	1.00
R2679:Ptbp3	UTSW	4	59494615	splice site	probably benign
R3798:Ptbp3	UTSW	4	59546166	missense	probably benign	0.05
R4793:Ptbp3	UTSW	4	59514297	missense	possibly damaging	0.71
R4869:Ptbp3	UTSW	4	59524443	missense	possibly damaging	0.79
R5573:Ptbp3	UTSW	4	59485626	missense	probably damaging	1.00
R5986:Ptbp3	UTSW	4	59493311	missense	probably benign	0.37
R6350:Ptbp3	UTSW	4	59482624	missense	probably damaging	0.98
R6659:Ptbp3	UTSW	4	59517640	missense	probably damaging	1.00
R7283:Ptbp3	UTSW	4	59514384	missense	probably benign	0.00
R7523:Ptbp3	UTSW	4	59546159	missense	probably benign
R7566:Ptbp3	UTSW	4	59514280	missense	probably benign	0.03
R8807:Ptbp3	UTSW	4	59517584	missense	probably benign
YA93:Ptbp3	UTSW	4	59524413	missense	possibly damaging	0.71

Posted On

2016-08-02