Mutagenetix > Incidental Mutation

Incidental Mutation 'R3824:Ptprb'

275289

Institutional Source

Beutler Lab

Gene Symbol

Ptprb

Ensembl Gene

ENSMUSG00000020154

Gene Name

protein tyrosine phosphatase receptor type B

Synonyms

3230402H02Rik, VE-PTP

MMRRC Submission

040885-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116111428-116225440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116186694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1743 (I1743F)

Ref Sequence

ENSEMBL: ENSMUSP00000151821 (fasta)

Gene Model

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

AlphaFold

B2RU80

Predicted Effect

probably benign
Transcript: ENSMUST00000092167
AA Change: I1456F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000089805
Gene: ENSMUSG00000020154
AA Change: I1456F

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: I1743F

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.1383

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,878,508 (GRCm39)	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,693,739 (GRCm39)	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,203,607 (GRCm39)		probably null	Het
A2ml1	A	G	6: 128,545,726 (GRCm39)	V467A	probably damaging	Het
Abcc3	T	C	11: 94,259,446 (GRCm39)		probably null	Het
Acad10	A	T	5: 121,760,881 (GRCm39)	M941K	probably benign	Het
Agrn	A	G	4: 156,253,759 (GRCm39)	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930 (GRCm39)	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,443,549 (GRCm39)	Y43C	probably damaging	Het
Btn2a2	T	A	13: 23,664,635 (GRCm39)	T308S	probably benign	Het
C8b	G	T	4: 104,640,206 (GRCm39)	A170S	probably benign	Het
Cabyr	T	A	18: 12,884,747 (GRCm39)	D411E	probably benign	Het
Capn3	T	C	2: 120,314,964 (GRCm39)		probably benign	Het
Cd200r4	T	C	16: 44,641,313 (GRCm39)	F19L	probably benign	Het
Cflar	T	A	1: 58,774,856 (GRCm39)	Y218N	probably benign	Het
Col11a2	T	C	17: 34,273,154 (GRCm39)	Y630H	probably damaging	Het
Coq6	T	C	12: 84,419,189 (GRCm39)		probably benign	Het
Drg2	A	G	11: 60,350,334 (GRCm39)	T98A	possibly damaging	Het
Fry	T	A	5: 150,419,884 (GRCm39)	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,245,222 (GRCm39)	S240P	probably benign	Het
Glmp	G	A	3: 88,233,718 (GRCm39)	V107I	probably damaging	Het
Gls	A	C	1: 52,272,147 (GRCm39)	M2R	possibly damaging	Het
Igfbp4	A	G	11: 98,939,061 (GRCm39)	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621 (GRCm39)	Y645*	probably null	Het
Kat6a	G	T	8: 23,352,380 (GRCm39)	V55F	probably damaging	Het
Kat8	T	A	7: 127,523,654 (GRCm39)	D292E	possibly damaging	Het
Myo19	T	A	11: 84,776,505 (GRCm39)	C54S	probably damaging	Het
Myo5b	C	T	18: 74,794,726 (GRCm39)	H532Y	probably benign	Het
Nckap1	T	C	2: 80,370,904 (GRCm39)	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,490,752 (GRCm39)	V105M	probably benign	Het
Or2o1	A	G	11: 49,051,620 (GRCm39)	S260G	possibly damaging	Het
Or8b101	A	T	9: 38,020,134 (GRCm39)	I51F	possibly damaging	Het
Or8b1b	T	A	9: 38,375,822 (GRCm39)	C162S	probably benign	Het
Or8c17	T	G	9: 38,179,814 (GRCm39)	S2A	probably benign	Het
Or8k30	T	G	2: 86,339,367 (GRCm39)	L188R	possibly damaging	Het
Palld	T	C	8: 62,162,067 (GRCm39)	D439G	probably damaging	Het
Pcf11	T	C	7: 92,308,828 (GRCm39)		probably benign	Het
Pigo	A	T	4: 43,020,909 (GRCm39)	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,473,283 (GRCm39)		probably null	Het
Plscr3	G	A	11: 69,740,964 (GRCm39)	V267M	probably benign	Het
Pramel24	A	T	4: 143,453,255 (GRCm39)	H121L	probably benign	Het
Prom2	A	G	2: 127,377,593 (GRCm39)		probably benign	Het
Ptk7	A	G	17: 46,876,304 (GRCm39)	I1049T	probably damaging	Het
Ptprm	A	G	17: 67,116,570 (GRCm39)	V894A	probably benign	Het
Rack1	A	G	11: 48,693,131 (GRCm39)	T105A	probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Sdk1	A	G	5: 141,921,804 (GRCm39)	T267A	probably benign	Het
Slco1a7	T	C	6: 141,700,100 (GRCm39)	Q144R	possibly damaging	Het
Sorcs3	T	A	19: 48,711,395 (GRCm39)	D653E	probably damaging	Het
Spata31e3	G	A	13: 50,399,548 (GRCm39)	S926F	possibly damaging	Het
Spata31f3	A	G	4: 42,873,492 (GRCm39)		probably null	Het
St8sia1	A	G	6: 142,774,751 (GRCm39)	L276P	probably damaging	Het
Sync	T	C	4: 129,188,156 (GRCm39)	V396A	possibly damaging	Het
Taok3	A	G	5: 117,394,002 (GRCm39)	T592A	probably benign	Het
Tas2r104	T	A	6: 131,662,002 (GRCm39)	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,636,293 (GRCm39)	I252S	probably benign	Het
Tmem259	T	C	10: 79,814,282 (GRCm39)	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,873,278 (GRCm39)	N200K	possibly damaging	Het
Usp24	G	A	4: 106,236,263 (GRCm39)	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,286,382 (GRCm39)	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413 (GRCm39)	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,607,466 (GRCm39)	N86H	probably damaging	Het
Zfp12	T	C	5: 143,226,077 (GRCm39)	V72A	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
R2101:Ptprb	UTSW	10	116,150,943 (GRCm39)	splice site	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
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'- AGACGCCCCTTTCATTATGC -3'
(R):5'- ACCTTGAAGAAGTCAGCTCTG -3'

Sequencing Primer
(F):5'- CATTATGCTTAATGTGCCACTGG -3'
(R):5'- AAGAAGTCAGCTCTGTGTCTTC -3'

Posted On

2015-04-02