Mutagenetix > Incidental Mutation

Incidental Mutation 'R2101:Ptprb'

230512

Institutional Source

Beutler Lab

Gene Symbol

Ptprb

Ensembl Gene

ENSMUSG00000020154

Gene Name

protein tyrosine phosphatase receptor type B

Synonyms

3230402H02Rik, VE-PTP

MMRRC Submission

040105-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2101 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116111428-116225440 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 116150943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151821 (fasta)

Gene Model

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

AlphaFold

B2RU80

Predicted Effect

probably benign
Transcript: ENSMUST00000092167

SMART Domains

Protein: ENSMUSP00000089805
Gene: ENSMUSG00000020154

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

noncoding transcript
Transcript: ENSMUST00000217925

Predicted Effect

probably benign
Transcript: ENSMUST00000218553

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	G	A	2: 103,397,207 (GRCm39)	A46T	probably benign	Het
Agap3	T	A	5: 24,692,797 (GRCm39)	L47Q	probably damaging	Het
Apaf1	T	G	10: 90,895,942 (GRCm39)	I377L	probably benign	Het
Astn2	G	A	4: 65,499,923 (GRCm39)	R937*	probably null	Het
Cacnb1	A	C	11: 97,896,554 (GRCm39)	V369G	probably damaging	Het
Cdc42bpa	G	T	1: 179,974,533 (GRCm39)	V1464L	probably benign	Het
Cdkn2aip	A	T	8: 48,166,036 (GRCm39)	M90K	probably damaging	Het
Chd3	A	T	11: 69,239,877 (GRCm39)	D1650E	probably benign	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clca3a2	T	C	3: 144,783,699 (GRCm39)	T639A	probably damaging	Het
Cluh	G	T	11: 74,551,328 (GRCm39)		probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Col11a2	A	T	17: 34,271,143 (GRCm39)	D528V	probably damaging	Het
Cyfip2	A	G	11: 46,133,270 (GRCm39)	L810P	probably damaging	Het
D430041D05Rik	A	G	2: 103,979,175 (GRCm39)	V2084A	probably damaging	Het
Dcc	G	A	18: 71,943,941 (GRCm39)	H237Y	possibly damaging	Het
Ddx60	T	A	8: 62,393,679 (GRCm39)	F38L	probably damaging	Het
Dio2	T	C	12: 90,696,597 (GRCm39)	*130W	probably null	Het
Dock5	G	T	14: 68,031,459 (GRCm39)	F990L	probably benign	Het
Dpy19l1	A	T	9: 24,393,331 (GRCm39)	V146E	probably damaging	Het
Dscam	T	C	16: 96,411,549 (GRCm39)	T1776A	probably benign	Het
Enpep	C	T	3: 129,092,587 (GRCm39)	S532N	probably benign	Het
Gdf6	A	G	4: 9,860,025 (GRCm39)	D369G	probably damaging	Het
Gtf2b	T	C	3: 142,477,144 (GRCm39)		probably benign	Het
Hmbox1	A	G	14: 65,066,028 (GRCm39)		probably benign	Het
Hps3	C	A	3: 20,066,947 (GRCm39)	V540F	possibly damaging	Het
Hsd3b6	T	A	3: 98,713,553 (GRCm39)	I249F	possibly damaging	Het
Hunk	T	A	16: 90,229,388 (GRCm39)		probably null	Het
Kidins220	T	A	12: 25,107,422 (GRCm39)	L1625Q	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Myo10	T	A	15: 25,722,345 (GRCm39)	L186Q	probably benign	Het
N4bp2	T	A	5: 65,948,224 (GRCm39)	W285R	probably damaging	Het
Nat8l	T	C	5: 34,155,716 (GRCm39)	L124P	probably damaging	Het
Nemp2	T	C	1: 52,680,225 (GRCm39)		probably null	Het
Nkain2	G	A	10: 32,205,813 (GRCm39)	T74I	possibly damaging	Het
Nol4	A	G	18: 22,956,466 (GRCm39)	S239P	probably damaging	Het
Or4c118	T	A	2: 88,975,301 (GRCm39)	E22V	probably benign	Het
Pcbp3	T	C	10: 76,625,589 (GRCm39)	I152V	possibly damaging	Het
Pcp4l1	G	T	1: 171,003,174 (GRCm39)	P10Q	probably damaging	Het
Pla1a	T	C	16: 38,235,730 (GRCm39)	N135D	probably damaging	Het
Plb1	T	A	5: 32,507,004 (GRCm39)	M1193K	probably damaging	Het
Prc1	T	C	7: 79,962,032 (GRCm39)	V73A	probably benign	Het
Prkd2	T	A	7: 16,603,490 (GRCm39)	W807R	probably damaging	Het
Prp2rt	G	T	13: 97,235,730 (GRCm39)	R6S	probably damaging	Het
Rb1cc1	A	G	1: 6,319,559 (GRCm39)	I993V	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rev3l	T	C	10: 39,704,092 (GRCm39)	V2046A	probably benign	Het
Rnpep	G	T	1: 135,199,355 (GRCm39)	N334K	probably damaging	Het
Sarm1	G	A	11: 78,366,115 (GRCm39)	P695S	probably damaging	Het
Sf3a3	C	T	4: 124,612,136 (GRCm39)	T131I	possibly damaging	Het
Slc38a10	A	T	11: 120,023,567 (GRCm39)	V283E	probably damaging	Het
Slco6c1	A	T	1: 97,000,595 (GRCm39)	L552*	probably null	Het
Tas2r136	T	C	6: 132,754,495 (GRCm39)	M211V	probably benign	Het
Tax1bp3	G	A	11: 73,071,947 (GRCm39)	D65N	probably damaging	Het
Tdrd5	A	G	1: 156,129,209 (GRCm39)	F167S	probably damaging	Het
Tfeb	G	A	17: 48,100,590 (GRCm39)	V269M	probably damaging	Het
Tspan12	A	T	6: 21,799,887 (GRCm39)	F153L	probably benign	Het
Txnrd1	T	G	10: 82,717,573 (GRCm39)	L186V	probably damaging	Het
Upk1b	A	T	16: 38,600,499 (GRCm39)	C160*	probably null	Het
Uty	T	C	Y: 1,176,541 (GRCm39)	Q172R	probably damaging	Het
Vmn1r23	T	C	6: 57,903,437 (GRCm39)	K114E	possibly damaging	Het
Vmn2r99	T	G	17: 19,598,253 (GRCm39)	N92K	probably damaging	Het
Vstm2a	T	A	11: 16,213,191 (GRCm39)	M192K	probably benign	Het
Zc3h12c	A	G	9: 52,027,721 (GRCm39)	V547A	probably benign	Het
Zfp944	T	A	17: 22,558,809 (GRCm39)	N146I	probably benign	Het

Other mutations in Ptprb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Ptprb	APN	10	116,198,553 (GRCm39)	missense	probably benign	0.15
IGL01354:Ptprb	APN	10	116,179,796 (GRCm39)	missense	probably benign	0.24
IGL01404:Ptprb	APN	10	116,175,341 (GRCm39)	missense	probably benign	0.14
IGL01410:Ptprb	APN	10	116,138,179 (GRCm39)	missense	possibly damaging	0.60
IGL01412:Ptprb	APN	10	116,179,820 (GRCm39)	missense	probably benign	0.27
IGL01731:Ptprb	APN	10	116,208,781 (GRCm39)	missense	probably damaging	1.00
IGL02003:Ptprb	APN	10	116,203,410 (GRCm39)	missense	probably damaging	1.00
IGL02110:Ptprb	APN	10	116,167,108 (GRCm39)	splice site	probably benign
IGL02178:Ptprb	APN	10	116,158,437 (GRCm39)	missense	probably benign	0.00
IGL02304:Ptprb	APN	10	116,167,164 (GRCm39)	missense	probably damaging	1.00
IGL02324:Ptprb	APN	10	116,155,238 (GRCm39)	missense	probably benign	0.03
IGL02388:Ptprb	APN	10	116,203,426 (GRCm39)	missense	probably damaging	1.00
IGL02640:Ptprb	APN	10	116,174,569 (GRCm39)	missense	probably damaging	0.99
IGL02698:Ptprb	APN	10	116,199,185 (GRCm39)	missense	probably benign	0.05
IGL02876:Ptprb	APN	10	116,184,116 (GRCm39)	splice site	probably benign
IGL02879:Ptprb	APN	10	116,163,873 (GRCm39)	missense	probably benign
IGL02982:Ptprb	APN	10	116,158,533 (GRCm39)	missense	probably benign	0.20
IGL03146:Ptprb	APN	10	116,164,032 (GRCm39)	missense	probably benign	0.14
IGL03351:Ptprb	APN	10	116,175,487 (GRCm39)	missense	probably benign	0.03
R0306:Ptprb	UTSW	10	116,179,893 (GRCm39)	missense	probably benign	0.04
R0385:Ptprb	UTSW	10	116,186,083 (GRCm39)	missense	probably benign	0.00
R0600:Ptprb	UTSW	10	116,204,712 (GRCm39)	missense	possibly damaging	0.63
R0613:Ptprb	UTSW	10	116,138,283 (GRCm39)	missense	possibly damaging	0.87
R0613:Ptprb	UTSW	10	116,138,230 (GRCm39)	missense	possibly damaging	0.59
R0850:Ptprb	UTSW	10	116,175,415 (GRCm39)	missense	probably damaging	1.00
R0850:Ptprb	UTSW	10	116,138,030 (GRCm39)	missense	possibly damaging	0.87
R1331:Ptprb	UTSW	10	116,203,437 (GRCm39)	missense	probably damaging	1.00
R1413:Ptprb	UTSW	10	116,175,584 (GRCm39)	missense	probably damaging	1.00
R1418:Ptprb	UTSW	10	116,155,375 (GRCm39)	missense	probably benign	0.00
R1545:Ptprb	UTSW	10	116,216,774 (GRCm39)	missense	probably damaging	1.00
R1562:Ptprb	UTSW	10	116,175,372 (GRCm39)	missense	probably benign	0.00
R1752:Ptprb	UTSW	10	116,176,895 (GRCm39)	missense	probably benign	0.44
R1837:Ptprb	UTSW	10	116,177,531 (GRCm39)	missense	probably benign	0.00
R1940:Ptprb	UTSW	10	116,155,515 (GRCm39)	splice site	probably benign
R1958:Ptprb	UTSW	10	116,177,441 (GRCm39)	missense	probably benign	0.10
R2029:Ptprb	UTSW	10	116,182,958 (GRCm39)	missense	probably benign	0.37
R2031:Ptprb	UTSW	10	116,153,448 (GRCm39)	missense	probably benign
R2209:Ptprb	UTSW	10	116,205,262 (GRCm39)	missense	probably damaging	1.00
R3016:Ptprb	UTSW	10	116,193,200 (GRCm39)	missense	possibly damaging	0.64
R3076:Ptprb	UTSW	10	116,179,931 (GRCm39)	missense	probably damaging	0.99
R3821:Ptprb	UTSW	10	116,185,979 (GRCm39)	missense	probably benign	0.11
R3824:Ptprb	UTSW	10	116,186,694 (GRCm39)	missense	probably benign	0.05
R3825:Ptprb	UTSW	10	116,186,694 (GRCm39)	missense	probably benign	0.05
R3841:Ptprb	UTSW	10	116,182,887 (GRCm39)	missense	possibly damaging	0.79
R3953:Ptprb	UTSW	10	116,177,399 (GRCm39)	missense	probably benign	0.00
R4125:Ptprb	UTSW	10	116,189,754 (GRCm39)	missense	probably benign	0.12
R4227:Ptprb	UTSW	10	116,138,130 (GRCm39)	missense	possibly damaging	0.96
R4385:Ptprb	UTSW	10	116,182,772 (GRCm39)	missense	probably benign
R4731:Ptprb	UTSW	10	116,155,238 (GRCm39)	missense	probably benign	0.03
R5009:Ptprb	UTSW	10	116,184,032 (GRCm39)	missense	possibly damaging	0.61
R5104:Ptprb	UTSW	10	116,158,364 (GRCm39)	missense	probably benign	0.17
R5114:Ptprb	UTSW	10	116,184,088 (GRCm39)	missense	possibly damaging	0.59
R5145:Ptprb	UTSW	10	116,179,820 (GRCm39)	missense	probably benign	0.27
R5214:Ptprb	UTSW	10	116,205,229 (GRCm39)	missense	possibly damaging	0.75
R5382:Ptprb	UTSW	10	116,189,776 (GRCm39)	missense	probably damaging	1.00
R5553:Ptprb	UTSW	10	116,186,090 (GRCm39)	missense	probably damaging	1.00
R5585:Ptprb	UTSW	10	116,216,759 (GRCm39)	missense	probably damaging	0.98
R5586:Ptprb	UTSW	10	116,189,732 (GRCm39)	missense	probably damaging	1.00
R5808:Ptprb	UTSW	10	116,175,392 (GRCm39)	missense	probably benign	0.00
R5875:Ptprb	UTSW	10	116,184,071 (GRCm39)	missense	probably benign	0.00
R6051:Ptprb	UTSW	10	116,176,995 (GRCm39)	nonsense	probably null
R6383:Ptprb	UTSW	10	116,182,912 (GRCm39)	nonsense	probably null
R6511:Ptprb	UTSW	10	116,182,725 (GRCm39)	missense	probably damaging	1.00
R6817:Ptprb	UTSW	10	116,119,582 (GRCm39)	small deletion	probably benign
R6826:Ptprb	UTSW	10	116,153,277 (GRCm39)	missense	probably benign	0.26
R6958:Ptprb	UTSW	10	116,113,153 (GRCm39)	missense	probably benign	0.32
R7103:Ptprb	UTSW	10	116,174,718 (GRCm39)	missense	probably damaging	1.00
R7129:Ptprb	UTSW	10	116,119,582 (GRCm39)	small deletion	probably benign
R7181:Ptprb	UTSW	10	116,204,671 (GRCm39)	missense	probably damaging	1.00
R7215:Ptprb	UTSW	10	116,174,681 (GRCm39)	missense	possibly damaging	0.94
R7289:Ptprb	UTSW	10	116,164,070 (GRCm39)	missense	probably damaging	0.99
R7315:Ptprb	UTSW	10	116,198,284 (GRCm39)	missense	possibly damaging	0.83
R7319:Ptprb	UTSW	10	116,177,309 (GRCm39)	missense	probably benign	0.01
R7381:Ptprb	UTSW	10	116,177,038 (GRCm39)	missense	probably benign
R7412:Ptprb	UTSW	10	116,177,043 (GRCm39)	missense	probably benign
R7483:Ptprb	UTSW	10	116,119,334 (GRCm39)	missense	probably benign	0.01
R7495:Ptprb	UTSW	10	116,177,353 (GRCm39)	missense	probably benign	0.12
R7508:Ptprb	UTSW	10	116,189,896 (GRCm39)	nonsense	probably null
R7571:Ptprb	UTSW	10	116,175,335 (GRCm39)	missense	probably damaging	1.00
R7586:Ptprb	UTSW	10	116,179,779 (GRCm39)	missense	probably damaging	0.97
R7623:Ptprb	UTSW	10	116,205,214 (GRCm39)	missense	possibly damaging	0.63
R7694:Ptprb	UTSW	10	116,208,853 (GRCm39)	missense	probably damaging	1.00
R7744:Ptprb	UTSW	10	116,113,389 (GRCm39)	missense	probably benign	0.10
R7752:Ptprb	UTSW	10	116,205,333 (GRCm39)	missense	probably benign	0.37
R7826:Ptprb	UTSW	10	116,119,582 (GRCm39)	small deletion	probably benign
R7833:Ptprb	UTSW	10	116,151,156 (GRCm39)	missense	probably benign	0.01
R7834:Ptprb	UTSW	10	116,175,329 (GRCm39)	missense	probably benign	0.00
R7846:Ptprb	UTSW	10	116,119,453 (GRCm39)	missense	probably benign	0.17
R7896:Ptprb	UTSW	10	116,205,362 (GRCm39)	splice site	probably null
R7901:Ptprb	UTSW	10	116,205,333 (GRCm39)	missense	probably benign	0.37
R7912:Ptprb	UTSW	10	116,158,392 (GRCm39)	missense	probably damaging	1.00
R7941:Ptprb	UTSW	10	116,119,582 (GRCm39)	small deletion	probably benign
R8147:Ptprb	UTSW	10	116,153,283 (GRCm39)	missense	probably damaging	1.00
R8202:Ptprb	UTSW	10	116,189,750 (GRCm39)	missense	probably damaging	1.00
R8339:Ptprb	UTSW	10	116,119,356 (GRCm39)	missense	probably benign	0.14
R8400:Ptprb	UTSW	10	116,119,477 (GRCm39)	small deletion	probably benign
R8504:Ptprb	UTSW	10	116,176,936 (GRCm39)	missense	probably benign	0.27
R8679:Ptprb	UTSW	10	116,203,495 (GRCm39)	missense	probably damaging	1.00
R8786:Ptprb	UTSW	10	116,155,306 (GRCm39)	missense	probably benign	0.40
R8914:Ptprb	UTSW	10	116,158,567 (GRCm39)	nonsense	probably null
R8980:Ptprb	UTSW	10	116,119,526 (GRCm39)	missense	probably benign	0.07
R8982:Ptprb	UTSW	10	116,119,582 (GRCm39)	small deletion	probably benign
R9256:Ptprb	UTSW	10	116,219,776 (GRCm39)	missense	probably damaging	1.00
R9288:Ptprb	UTSW	10	116,155,353 (GRCm39)	missense	probably benign	0.03
R9369:Ptprb	UTSW	10	116,151,057 (GRCm39)	missense	probably benign	0.00
R9448:Ptprb	UTSW	10	116,149,819 (GRCm39)	nonsense	probably null
R9467:Ptprb	UTSW	10	116,158,390 (GRCm39)	missense	probably benign	0.00
R9468:Ptprb	UTSW	10	116,113,274 (GRCm39)	missense	probably benign	0.00
R9481:Ptprb	UTSW	10	116,155,353 (GRCm39)	missense	probably benign	0.03
R9486:Ptprb	UTSW	10	116,155,494 (GRCm39)	nonsense	probably null
R9513:Ptprb	UTSW	10	116,138,142 (GRCm39)	missense	probably benign	0.00
R9529:Ptprb	UTSW	10	116,174,519 (GRCm39)	critical splice acceptor site	probably null
R9535:Ptprb	UTSW	10	116,158,431 (GRCm39)	missense	possibly damaging	0.92
R9614:Ptprb	UTSW	10	116,203,441 (GRCm39)	missense	probably damaging	1.00
R9686:Ptprb	UTSW	10	116,204,694 (GRCm39)	missense	probably damaging	1.00
RF041:Ptprb	UTSW	10	116,119,582 (GRCm39)	small deletion	probably benign
X0020:Ptprb	UTSW	10	116,138,085 (GRCm39)	missense	possibly damaging	0.62
Z1176:Ptprb	UTSW	10	116,138,061 (GRCm39)	frame shift	probably null
Z1177:Ptprb	UTSW	10	116,198,547 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTTAACGAAGGTCCCAG -3'
(R):5'- TGGAGTTTTGCAGTCCCGAG -3'

Sequencing Primer
(F):5'- TTAACGAAGGTCCCAGTGAACTGTC -3'
(R):5'- GGGTCAGCTCGTGAAAAGC -3'

Posted On

2014-09-18