Mutagenetix > Incidental Mutation

Incidental Mutation 'R7129:Ptprb'

552533

Institutional Source

Beutler Lab

Gene Symbol

Ptprb

Ensembl Gene

ENSMUSG00000020154

Gene Name

protein tyrosine phosphatase receptor type B

Synonyms

3230402H02Rik, VE-PTP

MMRRC Submission

045214-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7129 (G1)

Quality Score

195.458

Status

Not validated

Chromosome

Chromosomal Location

116111428-116225440 bp(+) (GRCm39)

Type of Mutation

small deletion (7 aa in frame mutation)

DNA Base Change (assembly)

GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT to GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT at 116119582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151821 (fasta)

Gene Model

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

AlphaFold

B2RU80

Predicted Effect

probably benign
Transcript: ENSMUST00000218553

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (58/59)

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
1700030K09Rik	A	G	8: 73,209,199 (GRCm39)	E443G	probably damaging	Het
2700049A03Rik	A	G	12: 71,263,004 (GRCm39)		probably null	Het
3110082I17Rik	A	G	5: 139,349,738 (GRCm39)	Y104H	probably damaging	Het
Abcg4	T	C	9: 44,190,681 (GRCm39)	K282E	probably benign	Het
Adamts17	T	C	7: 66,770,758 (GRCm39)	S956P	probably damaging	Het
Adh1	T	C	3: 137,986,235 (GRCm39)	V74A	probably damaging	Het
Akt1	A	T	12: 112,626,083 (GRCm39)	M63K	probably benign	Het
Arfrp1	G	A	2: 181,001,344 (GRCm39)	R177*	probably null	Het
Arl11	A	G	14: 61,548,346 (GRCm39)	E52G	possibly damaging	Het
BC051019	T	C	7: 109,319,825 (GRCm39)	S10G		Het
Bfsp2	T	A	9: 103,357,118 (GRCm39)	E103V	probably damaging	Het
Bms1	G	T	6: 118,380,122 (GRCm39)	C728*	probably null	Het
Cachd1	T	G	4: 100,775,263 (GRCm39)	N159K	probably null	Het
Cd38	A	G	5: 44,067,651 (GRCm39)	N294S	probably benign	Het
Cfap54	T	C	10: 92,852,433 (GRCm39)	N891S	probably benign	Het
Chsy3	A	T	18: 59,543,370 (GRCm39)	H836L	probably damaging	Het
Cldn16	A	T	16: 26,301,388 (GRCm39)	D232V	probably damaging	Het
Dhx33	A	T	11: 70,884,689 (GRCm39)	I425N	probably damaging	Het
Dock4	A	G	12: 40,878,878 (GRCm39)	N1506D	probably damaging	Het
Dok7	T	C	5: 35,236,392 (GRCm39)	S227P	probably damaging	Het
Elf2	T	C	3: 51,168,432 (GRCm39)	R201G	probably damaging	Het
Elp1	T	C	4: 56,787,944 (GRCm39)	H329R	probably damaging	Het
Etaa1	T	C	11: 17,890,339 (GRCm39)	R841G	possibly damaging	Het
Exoc4	T	C	6: 33,948,934 (GRCm39)	Y926H	probably damaging	Het
Fras1	A	G	5: 96,929,143 (GRCm39)	H3849R	probably benign	Het
Hapln3	C	T	7: 78,771,572 (GRCm39)	G106R	probably damaging	Het
Hmcn1	A	C	1: 150,452,961 (GRCm39)		probably null	Het
Ifitm7	A	T	16: 13,801,600 (GRCm39)	I53N	possibly damaging	Het
Il6ra	T	C	3: 89,778,554 (GRCm39)	N433D	probably damaging	Het
Iqch	C	T	9: 63,329,191 (GRCm39)	V1048I	probably benign	Het
Kif20a	A	G	18: 34,765,588 (GRCm39)	T862A	probably benign	Het
Mcrs1	G	A	15: 99,146,609 (GRCm39)	L141F	probably damaging	Het
Nkx3-2	A	G	5: 41,919,017 (GRCm39)	S324P	probably damaging	Het
Nmi	A	T	2: 51,845,936 (GRCm39)		probably null	Het
Nufip1	A	G	14: 76,372,325 (GRCm39)	K480E	possibly damaging	Het
Oit3	T	A	10: 59,264,166 (GRCm39)	I323F	probably damaging	Het
Or2ag17	T	C	7: 106,389,690 (GRCm39)	K173E	probably benign	Het
Or5b98	A	T	19: 12,931,478 (GRCm39)	H175L	possibly damaging	Het
Pcdha11	A	G	18: 37,140,291 (GRCm39)	E640G	probably benign	Het
Phip	C	T	9: 82,759,353 (GRCm39)	V1366I	probably damaging	Het
Plin5	T	C	17: 56,422,174 (GRCm39)	M162V	probably null	Het
Podxl2	A	G	6: 88,820,487 (GRCm39)		probably null	Het
Rab4a	A	T	8: 124,554,069 (GRCm39)	D40V	probably benign	Het
Scn7a	A	G	2: 66,530,537 (GRCm39)	F603L	probably benign	Het
Slfn5	A	T	11: 82,851,976 (GRCm39)	K701*	probably null	Het
Speer4f2	A	G	5: 17,582,446 (GRCm39)	D223G		Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tas2r117	A	T	6: 132,780,350 (GRCm39)	T163S	probably benign	Het
Tecta	T	C	9: 42,259,287 (GRCm39)	D1532G	probably damaging	Het
Tmem63a	T	C	1: 180,782,441 (GRCm39)	I146T	probably damaging	Het
Ttn	C	A	2: 76,646,515 (GRCm39)	G12844W	probably damaging	Het
Usp22	T	C	11: 61,053,775 (GRCm39)	I190V	probably damaging	Het
Usp24	T	C	4: 106,219,412 (GRCm39)	I536T	probably damaging	Het
Vmn1r23	A	G	6: 57,903,061 (GRCm39)	V239A	possibly damaging	Het
Vmn1r9	A	C	6: 57,048,611 (GRCm39)	T229P	probably damaging	Het
Zbtb21	AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	16: 97,752,887 (GRCm39)		probably benign	Het
Zbtb8a	G	C	4: 129,254,188 (GRCm39)	A102G	probably damaging	Het
Zfp51	T	C	17: 21,681,971 (GRCm39)	W57R	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
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
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
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'- TGCCACTACTGCTAACACCG -3'
(R):5'- CAAAGCAAGCCTTCTCACGG -3'

Sequencing Primer
(F):5'- TACTGCTAACACCGTCCCATATAG -3'
(R):5'- AGCCTTCTCACGGGAAGAC -3'

Posted On

2019-05-15