Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01404:Ptprb'

278388

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptprb

Ensembl Gene

ENSMUSG00000020154

Gene Name

protein tyrosine phosphatase receptor type B

Synonyms

3230402H02Rik, VE-PTP

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01404

Quality Score

Status

Chromosome

Chromosomal Location

116111428-116225440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116175341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1112 (D1112V)

Ref Sequence

ENSEMBL: ENSMUSP00000151821 (fasta)

Gene Model

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

AlphaFold

B2RU80

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083152

Predicted Effect

probably benign
Transcript: ENSMUST00000092167
AA Change: D825V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000089805
Gene: ENSMUSG00000020154
AA Change: D825V

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: D1112V

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

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 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
2700049A03Rik	T	A	12: 71,211,152 (GRCm39)		probably null	Het
4921524L21Rik	T	C	18: 6,638,653 (GRCm39)	S351P	possibly damaging	Het
Ablim3	A	G	18: 62,004,754 (GRCm39)	Y12H	probably damaging	Het
Adam2	C	T	14: 66,314,659 (GRCm39)		probably null	Het
Adgre4	A	T	17: 56,104,639 (GRCm39)	N235I	possibly damaging	Het
Aldh3b1	A	C	19: 3,971,205 (GRCm39)	V153G	probably benign	Het
B430306N03Rik	A	G	17: 48,628,101 (GRCm39)	Y177C	probably damaging	Het
Cast	A	T	13: 74,886,406 (GRCm39)	Y249*	probably null	Het
Cfap43	T	C	19: 47,784,105 (GRCm39)	D476G	probably benign	Het
Cpa4	T	C	6: 30,581,701 (GRCm39)	I216T	possibly damaging	Het
Cpeb3	T	C	19: 37,065,948 (GRCm39)	D407G	probably benign	Het
Ctnnal1	T	C	4: 56,829,590 (GRCm39)	D413G	probably damaging	Het
Cyb5a	A	G	18: 84,895,985 (GRCm39)	S84G	probably benign	Het
Dpy19l4	C	A	4: 11,273,006 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,975,972 (GRCm39)	S641T	probably damaging	Het
Espn	T	A	4: 152,222,901 (GRCm39)	T326S	probably benign	Het
Extl1	T	C	4: 134,086,514 (GRCm39)	M514V	probably benign	Het
Fancc	G	A	13: 63,509,452 (GRCm39)	L134F	probably damaging	Het
Fis1	C	T	5: 136,994,828 (GRCm39)	A90V	probably benign	Het
Gdi2	A	G	13: 3,614,611 (GRCm39)	T319A	probably benign	Het
Gjc3	A	G	5: 137,956,120 (GRCm39)	F55S	probably damaging	Het
Gm10762	C	T	2: 128,809,005 (GRCm39)		probably benign	Het
Got1	A	G	19: 43,493,048 (GRCm39)	I291T	possibly damaging	Het
Gpr179	C	A	11: 97,229,012 (GRCm39)	G1048*	probably null	Het
Ino80	T	A	2: 119,287,199 (GRCm39)	D56V	possibly damaging	Het
Kcp	C	A	6: 29,496,638 (GRCm39)	C624F	probably damaging	Het
Kctd1	T	A	18: 15,102,610 (GRCm39)	Q857L	probably damaging	Het
Lins1	G	A	7: 66,363,676 (GRCm39)	V524I	probably damaging	Het
Lrp1	A	T	10: 127,430,901 (GRCm39)	Y383N	probably damaging	Het
Mgam	A	C	6: 40,621,879 (GRCm39)	K84Q	probably benign	Het
Mib2	T	A	4: 155,739,393 (GRCm39)	E862V	probably damaging	Het
Myh1	G	T	11: 67,112,977 (GRCm39)	R1827L	possibly damaging	Het
Myh10	T	C	11: 68,642,866 (GRCm39)		probably null	Het
Myo1e	A	G	9: 70,245,048 (GRCm39)	Y382C	probably benign	Het
Nktr	G	A	9: 121,570,218 (GRCm39)		probably null	Het
Nlrc4	A	G	17: 74,752,706 (GRCm39)	I559T	probably damaging	Het
Nod2	A	T	8: 89,390,364 (GRCm39)	M224L	probably benign	Het
Or4d5	A	G	9: 40,012,558 (GRCm39)	I76T	probably benign	Het
Or52n4	A	T	7: 104,293,687 (GRCm39)	Y295*	probably null	Het
Or5k8	G	A	16: 58,644,958 (GRCm39)	T38I	probably damaging	Het
Pex7	G	T	10: 19,770,557 (GRCm39)		probably benign	Het
Rubcn	G	A	16: 32,647,666 (GRCm39)	T636M	probably damaging	Het
Scn5a	A	C	9: 119,315,536 (GRCm39)	L1724R	probably damaging	Het
Sec14l2	T	C	11: 4,066,710 (GRCm39)	D34G	possibly damaging	Het
Serpina3k	A	G	12: 104,306,882 (GRCm39)	D38G	probably benign	Het
Sh3bgr	A	C	16: 96,007,690 (GRCm39)	K18N	probably damaging	Het
Sh3bp5l	A	T	11: 58,236,886 (GRCm39)	H281L	probably benign	Het
Slc28a2	T	G	2: 122,282,538 (GRCm39)	I287M	probably damaging	Het
Slc2a1	T	A	4: 118,989,435 (GRCm39)	M45K	possibly damaging	Het
Syt11	A	G	3: 88,669,523 (GRCm39)	I123T	probably benign	Het
Tfg	C	A	16: 56,514,856 (GRCm39)		probably benign	Het
Tmem177	T	C	1: 119,837,791 (GRCm39)	D296G	probably damaging	Het
Trabd2b	A	G	4: 114,457,153 (GRCm39)	I357V	probably benign	Het
Trp63	C	A	16: 25,639,135 (GRCm39)		probably benign	Het
Ugt1a8	T	C	1: 88,015,617 (GRCm39)	L10P	probably benign	Het
Vmn2r103	A	G	17: 20,032,696 (GRCm39)	I823M	probably damaging	Het
Vmn2r45	T	C	7: 8,484,467 (GRCm39)	N446S	probably damaging	Het
Vps13c	A	T	9: 67,820,486 (GRCm39)		probably null	Het
Vwa3b	C	T	1: 37,193,117 (GRCm39)	T11I	probably benign	Het
Vwf	A	C	6: 125,654,933 (GRCm39)	Q2543P	probably damaging	Het
Yap1	G	A	9: 7,934,742 (GRCm39)		probably benign	Het
Zfp282	A	C	6: 47,874,770 (GRCm39)	D325A	probably damaging	Het
Zfyve9	T	G	4: 108,539,348 (GRCm39)	Y975S	probably damaging	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
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
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

Posted On

2015-04-16