Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Ptbp3'

565783

Institutional Source

Beutler Lab

Gene Symbol

Ptbp3

Ensembl Gene

ENSMUSG00000028382

Gene Name

polypyrimidine tract binding protein 3

Synonyms

Rod1, 5830471K22Rik

MMRRC Submission

Accession Numbers

Genbank: NM_144904; MGI: 1923334; Ensembl: ENSMUST00000030076

Essential gene?

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

Stock #

R7283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59471868-59549364 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59514384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 80 (T80A)

Ref Sequence

ENSEMBL: ENSMUSP00000030076 (fasta)

Gene Model

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

AlphaFold

Q8BHD7

Predicted Effect

probably benign
Transcript: ENSMUST00000030076
AA Change: T80A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030076
Gene: ENSMUSG00000028382
AA Change: T80A

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: T108A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099947
Gene: ENSMUSG00000028382
AA Change: T108A

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: ENSMUST00000140925

SMART Domains

Protein: ENSMUSP00000122138
Gene: ENSMUSG00000028382

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
AA Change: T77A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122840
Gene: ENSMUSG00000028382
AA Change: T77A

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
AA Change: T77A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134102
Gene: ENSMUSG00000028382
AA Change: T77A

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: T14A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000134290
Gene: ENSMUSG00000028382
AA Change: T14A

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: 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: ENSMUST00000174586
AA Change: T111A

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133612
Gene: ENSMUSG00000028382
AA Change: T111A

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,274,828	Q1346R	probably damaging	Het
4833439L19Rik	A	G	13: 54,552,691	V278A	probably benign	Het
4932415D10Rik	G	A	10: 82,291,297	R1960W	possibly damaging	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Abce1	C	A	8: 79,685,256	G592*	probably null	Het
Acad10	A	C	5: 121,649,475	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,203,563	I672V	not run	Het
Adgrb1	A	T	15: 74,580,663	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,729,796	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,609,731	T418A	probably benign	Het
Azin1	G	A	15: 38,501,408	T33I	probably damaging	Het
Bicra	T	C	7: 15,972,500	T1339A	probably damaging	Het
Cacna1s	A	G	1: 136,073,708	Y299C	probably damaging	Het
Clip1	A	C	5: 123,613,794	C641W		Het
Clip3	T	C	7: 30,305,812	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,192,882	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,766,914	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,905,556	N280I	probably benign	Het
Diaph3	A	G	14: 86,866,584	F788S	probably damaging	Het
Drc7	A	G	8: 95,071,579	N484S	probably damaging	Het
Erap1	G	A	13: 74,673,784		probably null	Het
Fat4	A	T	3: 38,889,693	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,742,357	K217*	probably null	Het
Igkv12-89	A	G	6: 68,835,077	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526		probably null	Het
Ipo8	T	A	6: 148,824,481	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,451,486	M1T	probably null	Het
Klrb1c	A	T	6: 128,784,257	C136S	probably benign	Het
Morn2	A	G	17: 80,297,259	E48G	probably damaging	Het
Myh1	A	T	11: 67,201,844		probably null	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nfxl1	A	G	5: 72,529,050	S603P	probably benign	Het
Nlrc3	G	A	16: 3,947,877	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,195,538	R76*	probably null	Het
Olfr190	A	T	16: 59,074,192	M296K	probably benign	Het
Olfr228	A	T	2: 86,483,139	I201N	probably damaging	Het
Olfr397	T	C	11: 73,964,808	S67P	probably damaging	Het
Olfr664	G	T	7: 104,733,593	T257K	probably damaging	Het
Olfr872	A	C	9: 20,260,259	I140L	probably damaging	Het
Papolg	A	G	11: 23,867,394	V601A	not run	Het
Pde4dip	T	C	3: 97,758,882	T349A	probably benign	Het
Pdlim5	T	C	3: 142,311,980		probably null	Het
Pkhd1l1	A	G	15: 44,503,280	N718S	probably benign	Het
Plcxd3	A	G	15: 4,516,919	H135R	probably damaging	Het
Plxna2	A	T	1: 194,644,883	Y375F	probably damaging	Het
Prkca	C	T	11: 108,340,645		probably null	Het
Prkdc	A	G	16: 15,717,764	S1663G	probably benign	Het
Ptpn4	C	T	1: 119,682,531	V696I	possibly damaging	Het
Pygl	A	T	12: 70,216,568	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,047,441	Y298H	probably damaging	Het
Rit2	A	G	18: 31,316,839		probably null	Het
Runx1t1	G	A	4: 13,846,935	G240R	probably damaging	Het
Scn10a	A	G	9: 119,664,779		probably null	Het
Serpina16	A	C	12: 103,672,432		probably null	Het
Slc17a3	A	T	13: 23,855,848	M290L		Het
Slc6a4	A	T	11: 77,010,696	M86L	probably benign	Het
Spag7	A	T	11: 70,665,313	V46E	probably benign	Het
Sptlc1	T	C	13: 53,344,878	I271V	probably benign	Het
Stk17b	A	C	1: 53,757,515	H364Q	probably benign	Het
Strc	T	C	2: 121,379,452	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,815,014	D148V	probably damaging	Het
Tirap	G	A	9: 35,188,929	P153L	probably damaging	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Tmem51	T	A	4: 142,031,783	D218V	probably damaging	Het
Trim40	A	T	17: 36,882,662	D218E	probably benign	Het
Ttc21b	T	C	2: 66,208,718	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,025,955	L108P	probably damaging	Het
Washc2	C	A	6: 116,227,418	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,611,311	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712	V82A	probably damaging	Het
Zfp853	G	C	5: 143,287,738	A724G	unknown	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
IGL03118:Ptbp3	APN	4	59501470	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- CAGCCCAGTGTCATTTCTAACAC -3'
(R):5'- CCTGGCAGTTTCCTCAGTTG -3'

Sequencing Primer
(F):5'- GTGTCATTTCTAACACTACAACTTCC -3'
(R):5'- CAGTTGGAAACTTTTATTGAACCCAG -3'

Posted On

2019-06-26