Mutagenetix > Incidental Mutations

Incidental Mutation 'R0306:Ptprb'

35807

Institutional Source

Beutler Lab

Gene Symbol

Ptprb

Ensembl Gene

ENSMUSG00000020154

Gene Name

protein tyrosine phosphatase, receptor type, B

Synonyms

3230402H02Rik, VE-PTP

MMRRC Submission

038517-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0306 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

116275523-116389535 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116343988 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1437 (M1437T)

Ref Sequence

ENSEMBL: ENSMUSP00000151821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092167] [ENSMUST00000218553]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083152

Predicted Effect

probably benign
Transcript: ENSMUST00000092167
AA Change: M1150T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000089805
Gene: ENSMUSG00000020154
AA Change: M1150T

Domain	Start	End	E-Value	Type
FN3	22	102	8.23e1	SMART
FN3	111	193	1.73e-5	SMART
FN3	204	281	1.56e-3	SMART
FN3	290	366	6.45e-5	SMART
FN3	378	459	5e-2	SMART
FN3	468	546	1.61e-5	SMART
FN3	555	632	7.18e-3	SMART
FN3	644	724	7.52e-6	SMART
FN3	732	811	2.92e-3	SMART
FN3	820	899	2.76e-4	SMART
FN3	908	987	1.29e-4	SMART
FN3	996	1075	7.7e-3	SMART
FN3	1086	1166	1.21e0	SMART
FN3	1174	1253	5.08e-3	SMART
FN3	1262	1340	1.17e-7	SMART
FN3	1356	1435	2.68e-2	SMART
Blast:FN3	1450	1591	6e-88	BLAST
transmembrane domain	1620	1642	N/A	INTRINSIC
Blast:PTPc	1643	1681	3e-11	BLAST
PTPc	1703	1966	1.05e-134	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000218553
AA Change: M1437T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

Meta Mutation Damage Score

0.1018

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (61/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and one intracytoplasmic catalytic domain, thus belongs to receptor type PTP. The extracellular region of this PTP is composed of multiple fibronectin type_III repeats, which was shown to interact with neuronal receptor and cell adhesion molecules, such as contactin and tenascin C. This protein was also found to interact with sodium channels, and thus may regulate sodium channels by altering tyrosine phosphorylation status. The functions of the interaction partners of this protein implicate the roles of this PTP in cell adhesion, neurite growth, and neuronal differentiation. Alternate transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality at E10, impaired vascular maintenace and remodeling, heart defects and abnormal yolk sac vasculature. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,179,889	V270A	probably damaging	Het
BC028528	C	T	3: 95,889,820		probably benign	Het
Bspry	T	C	4: 62,496,157	F329S	probably damaging	Het
Cd209a	A	G	8: 3,745,535	Y120H	probably benign	Het
Ces1f	T	C	8: 93,276,544		probably benign	Het
Cfap52	T	C	11: 67,954,070	N58D	probably benign	Het
Cfap74	G	A	4: 155,465,439		probably benign	Het
Chst8	T	C	7: 34,675,298	E372G	probably benign	Het
Ddx49	A	G	8: 70,294,672		probably benign	Het
Ddx52	G	T	11: 83,944,648	L133F	probably benign	Het
Defb26	T	A	2: 152,507,968	I131F	unknown	Het
Dip2c	T	A	13: 9,604,599	S719T	probably benign	Het
Dnmt3a	A	G	12: 3,866,096	S94G	possibly damaging	Het
Doxl2	T	C	6: 48,976,086	V315A	probably damaging	Het
Dytn	G	A	1: 63,685,113	P3S	possibly damaging	Het
Fmn2	T	C	1: 174,609,484		probably benign	Het
Gal3st1	T	A	11: 3,998,546	L251Q	probably damaging	Het
Gm19684	A	T	17: 36,127,408		probably benign	Het
Il15	T	A	8: 82,334,454		probably benign	Het
Jag1	C	T	2: 137,085,935	G852D	probably damaging	Het
Kbtbd4	A	G	2: 90,914,186		probably benign	Het
Kdm3b	C	A	18: 34,804,017	Q451K	probably benign	Het
Lrfn2	A	T	17: 49,096,255	I469F	probably damaging	Het
Mep1a	A	T	17: 43,502,643		probably benign	Het
Morn5	T	C	2: 36,054,974	F70S	probably damaging	Het
Nav2	C	A	7: 49,545,903	P1009Q	probably benign	Het
Noc3l	T	C	19: 38,807,650	Y334C	probably damaging	Het
Nsun4	A	T	4: 116,052,822	Y180*	probably null	Het
Nup210l	T	C	3: 90,207,368	I1750T	probably benign	Het
Olfr1044	T	A	2: 86,171,716	I34F	possibly damaging	Het
Olfr473	A	T	7: 107,933,700	Y60F	probably damaging	Het
Olfr571	A	T	7: 102,909,803	I12N	probably benign	Het
Parp14	A	G	16: 35,856,574	L1008P	probably benign	Het
Paxbp1	A	G	16: 91,022,115	V759A	possibly damaging	Het
Prdm10	C	A	9: 31,316,224	Q42K	probably damaging	Het
Prkcsh	T	C	9: 22,006,526		probably benign	Het
Psmg1	A	G	16: 95,987,340	C138R	probably damaging	Het
Ryr3	A	G	2: 112,775,655		probably null	Het
Serpinf1	T	C	11: 75,413,935	Y200C	probably damaging	Het
Shox2	T	C	3: 66,973,834	H130R	probably damaging	Het
Slc22a1	A	G	17: 12,662,598	F335L	probably benign	Het
Slc44a5	A	G	3: 154,270,001	N683S	probably damaging	Het
Slc9a9	A	T	9: 95,137,934	T519S	probably benign	Het
Smarca2	T	A	19: 26,640,613	L348Q	probably damaging	Het
Sorbs1	T	C	19: 40,344,411	D521G	possibly damaging	Het
Sorbs2	A	T	8: 45,795,730	T593S	probably benign	Het
Srp19	T	C	18: 34,334,576		probably benign	Het
Stk35	T	A	2: 129,801,763	Y222*	probably null	Het
Syt10	T	G	15: 89,826,988	K114T	probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Trpc4ap	A	G	2: 155,636,260	V662A	probably benign	Het
Ttll4	G	A	1: 74,696,757	R1066Q	probably benign	Het
Tulp2	C	T	7: 45,518,576		probably benign	Het
Unc5b	C	A	10: 60,779,658		probably benign	Het
Vmn1r230	T	A	17: 20,846,633	I28K	possibly damaging	Het
Vmn2r118	A	C	17: 55,608,616	F445V	possibly damaging	Het
Zfp142	C	T	1: 74,570,182	E1485K	probably damaging	Het
Zfp819	C	A	7: 43,617,197	A292E	possibly damaging	Het

Other mutations in Ptprb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Ptprb	APN	10	116362648	missense	probably benign	0.15
IGL01354:Ptprb	APN	10	116343891	missense	probably benign	0.24
IGL01404:Ptprb	APN	10	116339436	missense	probably benign	0.14
IGL01410:Ptprb	APN	10	116302274	missense	possibly damaging	0.60
IGL01412:Ptprb	APN	10	116343915	missense	probably benign	0.27
IGL01731:Ptprb	APN	10	116372876	missense	probably damaging	1.00
IGL02003:Ptprb	APN	10	116367505	missense	probably damaging	1.00
IGL02110:Ptprb	APN	10	116331203	splice site	probably benign
IGL02178:Ptprb	APN	10	116322532	missense	probably benign	0.00
IGL02304:Ptprb	APN	10	116331259	missense	probably damaging	1.00
IGL02324:Ptprb	APN	10	116319333	missense	probably benign	0.03
IGL02388:Ptprb	APN	10	116367521	missense	probably damaging	1.00
IGL02640:Ptprb	APN	10	116338664	missense	probably damaging	0.99
IGL02698:Ptprb	APN	10	116363280	missense	probably benign	0.05
IGL02876:Ptprb	APN	10	116348211	splice site	probably benign
IGL02879:Ptprb	APN	10	116327968	missense	probably benign
IGL02982:Ptprb	APN	10	116322628	missense	probably benign	0.20
IGL03146:Ptprb	APN	10	116328127	missense	probably benign	0.14
IGL03351:Ptprb	APN	10	116339582	missense	probably benign	0.03
R0385:Ptprb	UTSW	10	116350178	missense	probably benign	0.00
R0600:Ptprb	UTSW	10	116368807	missense	possibly damaging	0.63
R0613:Ptprb	UTSW	10	116302325	missense	possibly damaging	0.59
R0613:Ptprb	UTSW	10	116302378	missense	possibly damaging	0.87
R0850:Ptprb	UTSW	10	116302125	missense	possibly damaging	0.87
R0850:Ptprb	UTSW	10	116339510	missense	probably damaging	1.00
R1331:Ptprb	UTSW	10	116367532	missense	probably damaging	1.00
R1413:Ptprb	UTSW	10	116339679	missense	probably damaging	1.00
R1418:Ptprb	UTSW	10	116319470	missense	probably benign	0.00
R1545:Ptprb	UTSW	10	116380869	missense	probably damaging	1.00
R1562:Ptprb	UTSW	10	116339467	missense	probably benign	0.00
R1752:Ptprb	UTSW	10	116340990	missense	probably benign	0.44
R1837:Ptprb	UTSW	10	116341626	missense	probably benign	0.00
R1940:Ptprb	UTSW	10	116319610	splice site	probably benign
R1958:Ptprb	UTSW	10	116341536	missense	probably benign	0.10
R2029:Ptprb	UTSW	10	116347053	missense	probably benign	0.37
R2031:Ptprb	UTSW	10	116317543	missense	probably benign
R2101:Ptprb	UTSW	10	116315038	splice site	probably benign
R2209:Ptprb	UTSW	10	116369357	missense	probably damaging	1.00
R3016:Ptprb	UTSW	10	116357295	missense	possibly damaging	0.64
R3076:Ptprb	UTSW	10	116344026	missense	probably damaging	0.99
R3821:Ptprb	UTSW	10	116350074	missense	probably benign	0.11
R3824:Ptprb	UTSW	10	116350789	missense	probably benign	0.05
R3825:Ptprb	UTSW	10	116350789	missense	probably benign	0.05
R3841:Ptprb	UTSW	10	116346982	missense	possibly damaging	0.79
R3953:Ptprb	UTSW	10	116341494	missense	probably benign	0.00
R4125:Ptprb	UTSW	10	116353849	missense	probably benign	0.12
R4227:Ptprb	UTSW	10	116302225	missense	possibly damaging	0.96
R4385:Ptprb	UTSW	10	116346867	missense	probably benign
R4731:Ptprb	UTSW	10	116319333	missense	probably benign	0.03
R5009:Ptprb	UTSW	10	116348127	missense	possibly damaging	0.61
R5104:Ptprb	UTSW	10	116322459	missense	probably benign	0.17
R5114:Ptprb	UTSW	10	116348183	missense	possibly damaging	0.59
R5145:Ptprb	UTSW	10	116343915	missense	probably benign	0.27
R5214:Ptprb	UTSW	10	116369324	missense	possibly damaging	0.75
R5382:Ptprb	UTSW	10	116353871	missense	probably damaging	1.00
R5553:Ptprb	UTSW	10	116350185	missense	probably damaging	1.00
R5585:Ptprb	UTSW	10	116380854	missense	probably damaging	0.98
R5586:Ptprb	UTSW	10	116353827	missense	probably damaging	1.00
R5808:Ptprb	UTSW	10	116339487	missense	probably benign	0.00
R5875:Ptprb	UTSW	10	116348166	missense	probably benign	0.00
R6051:Ptprb	UTSW	10	116341090	nonsense	probably null
R6383:Ptprb	UTSW	10	116347007	nonsense	probably null
R6511:Ptprb	UTSW	10	116346820	missense	probably damaging	1.00
R6817:Ptprb	UTSW	10	116283677	small deletion	probably benign
R6826:Ptprb	UTSW	10	116317372	missense	probably benign	0.26
R6958:Ptprb	UTSW	10	116277248	missense	probably benign	0.32
R7103:Ptprb	UTSW	10	116338813	missense	probably damaging	1.00
R7129:Ptprb	UTSW	10	116283677	small deletion	probably benign
R7181:Ptprb	UTSW	10	116368766	missense	probably damaging	1.00
R7215:Ptprb	UTSW	10	116338776	missense	possibly damaging	0.94
R7289:Ptprb	UTSW	10	116328165	missense	probably damaging	0.99
R7315:Ptprb	UTSW	10	116362379	missense	possibly damaging	0.83
R7319:Ptprb	UTSW	10	116341404	missense	probably benign	0.01
R7381:Ptprb	UTSW	10	116341133	missense	probably benign
R7412:Ptprb	UTSW	10	116341138	missense	probably benign
R7483:Ptprb	UTSW	10	116283429	missense	probably benign	0.01
R7495:Ptprb	UTSW	10	116341448	missense	probably benign	0.12
R7508:Ptprb	UTSW	10	116353991	nonsense	probably null
R7571:Ptprb	UTSW	10	116339430	missense	probably damaging	1.00
R7586:Ptprb	UTSW	10	116343874	missense	probably damaging	0.97
R7623:Ptprb	UTSW	10	116369309	missense	possibly damaging	0.63
R7694:Ptprb	UTSW	10	116372948	missense	probably damaging	1.00
R7744:Ptprb	UTSW	10	116277484	missense	probably benign	0.10
R7752:Ptprb	UTSW	10	116369428	missense	probably benign	0.37
R7826:Ptprb	UTSW	10	116283677	small deletion	probably benign
RF041:Ptprb	UTSW	10	116283677	small deletion	probably benign
X0020:Ptprb	UTSW	10	116302180	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- TGCATCTATTGGAAGTCGAGGCATC -3'
(R):5'- GTCCACTCTGGACAGAATTGGGAAG -3'

Sequencing Primer
(F):5'- GTGTCCACCAAGGTATTGATTC -3'
(R):5'- AGGATGAACAACCAAGGCTG -3'

Posted On

2013-05-09