Mutagenetix > Incidental Mutation

Incidental Mutation 'R5214:Ptprb'

403360

Institutional Source

Beutler Lab

Gene Symbol

Ptprb

Ensembl Gene

ENSMUSG00000020154

Gene Name

protein tyrosine phosphatase receptor type B

Synonyms

3230402H02Rik, VE-PTP

MMRRC Submission

042787-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5214 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116111428-116225440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116205229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 2148 (I2148T)

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: I1861T

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000089805
Gene: ENSMUSG00000020154
AA Change: I1861T

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

possibly damaging
Transcript: ENSMUST00000218553
AA Change: I2148T

PolyPhen 2 Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.8149

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (77/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	A	G	3: 116,861,424 (GRCm39)		noncoding transcript	Het
4930449A18Rik	A	T	3: 59,733,305 (GRCm39)		noncoding transcript	Het
Acsbg3	T	C	17: 57,193,493 (GRCm39)	V613A	probably benign	Het
Adgrl1	G	A	8: 84,642,202 (GRCm39)		probably null	Het
Aldh1l1	A	G	6: 90,540,399 (GRCm39)	D228G	probably damaging	Het
Ankrd17	T	C	5: 90,431,319 (GRCm39)	I822V	possibly damaging	Het
Atm	C	A	9: 53,402,327 (GRCm39)	A1382S	probably benign	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Cacna1e	T	A	1: 154,577,110 (GRCm39)	I96F	possibly damaging	Het
Calhm5	A	G	10: 33,968,487 (GRCm39)	S189P	probably damaging	Het
Ccar1	G	A	10: 62,606,740 (GRCm39)	R335C	probably damaging	Het
Ccdc113	T	C	8: 96,272,601 (GRCm39)	I236T	possibly damaging	Het
Ccdc14	T	A	16: 34,525,225 (GRCm39)	S125T	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdon	T	C	9: 35,394,504 (GRCm39)	C917R	probably damaging	Het
Ckap2l	T	C	2: 129,127,389 (GRCm39)	D263G	probably benign	Het
Cntnap3	G	T	13: 64,909,824 (GRCm39)	H760Q	probably damaging	Het
Dennd2d	G	A	3: 106,393,637 (GRCm39)		probably null	Het
Dock4	A	G	12: 40,754,465 (GRCm39)	I485V	probably benign	Het
Dspp	A	G	5: 104,326,364 (GRCm39)	D909G	unknown	Het
Eps8	A	T	6: 137,504,490 (GRCm39)	M81K	probably damaging	Het
Fras1	T	C	5: 96,917,452 (GRCm39)	S3491P	probably damaging	Het
Gm17669	C	T	18: 67,695,479 (GRCm39)	T8I	possibly damaging	Het
Gm5114	G	T	7: 39,057,792 (GRCm39)	T609K	probably benign	Het
Gm973	A	G	1: 59,565,880 (GRCm39)	N32S	probably damaging	Het
Herpud1	G	T	8: 95,117,479 (GRCm39)		probably null	Het
Jcad	T	A	18: 4,674,134 (GRCm39)	L632Q	probably damaging	Het
Kcnh8	T	C	17: 53,205,486 (GRCm39)	L527S	probably damaging	Het
Klk1b11	C	A	7: 43,647,266 (GRCm39)	H67N	probably benign	Het
Ldhb	T	A	6: 142,441,321 (GRCm39)	I190F	probably damaging	Het
Lrrc34	A	T	3: 30,690,397 (GRCm39)	C168*	probably null	Het
Lrtm1	C	T	14: 28,743,651 (GRCm39)	H40Y	possibly damaging	Het
Mageb3	T	C	2: 121,785,319 (GRCm39)	M128V	possibly damaging	Het
Miga2	A	G	2: 30,261,208 (GRCm39)	T90A	probably benign	Het
Msantd5	C	A	11: 51,125,675 (GRCm39)	H199Q	possibly damaging	Het
Ndrg1	G	A	15: 66,831,239 (GRCm39)	T24I	probably damaging	Het
Nos2	T	C	11: 78,846,267 (GRCm39)	L878P	probably damaging	Het
Or11g27	T	G	14: 50,771,804 (GRCm39)	*312E	probably null	Het
Pcdhgb1	T	A	18: 37,814,478 (GRCm39)	I323N	probably damaging	Het
Plec	A	G	15: 76,061,921 (GRCm39)	I2537T	probably damaging	Het
Pnpo	C	A	11: 96,833,295 (GRCm39)	E68D	probably benign	Het
Ppp6r1	C	T	7: 4,646,176 (GRCm39)	R175Q	probably benign	Het
Prnp	C	T	2: 131,778,924 (GRCm39)	T192I	probably damaging	Het
Raf1	G	T	6: 115,614,583 (GRCm39)	F99L	possibly damaging	Het
Rbks	A	G	5: 31,807,736 (GRCm39)		probably benign	Het
Rlf	T	C	4: 121,007,897 (GRCm39)	D361G	probably damaging	Het
Rnpepl1	G	T	1: 92,847,001 (GRCm39)	D608Y	probably benign	Het
Scaf1	G	A	7: 44,652,662 (GRCm39)		probably benign	Het
Sh3rf1	A	T	8: 61,825,765 (GRCm39)	M587L	probably damaging	Het
Slc22a21	A	T	11: 53,843,869 (GRCm39)	S473T	probably damaging	Het
Syt15	A	G	14: 33,943,703 (GRCm39)	D84G	possibly damaging	Het
Tbc1d19	T	C	5: 54,007,183 (GRCm39)	L236P	probably benign	Het
Tbx2	G	T	11: 85,729,263 (GRCm39)	A549S	probably benign	Het
Tc2n	A	T	12: 101,659,461 (GRCm39)	C157*	probably null	Het
Tecta	C	T	9: 42,256,964 (GRCm39)	V1571I	probably benign	Het
Them4	A	G	3: 94,224,818 (GRCm39)	K65R	probably benign	Het
Tmc5	C	T	7: 118,247,155 (GRCm39)	T553M	probably damaging	Het
Tmem200c	C	T	17: 69,148,122 (GRCm39)	A235V	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Tmf1	G	C	6: 97,144,253 (GRCm39)	A701G	possibly damaging	Het
Tomm70a	G	A	16: 56,942,300 (GRCm39)	G26S	unknown	Het
Treh	T	C	9: 44,594,173 (GRCm39)	Y140H	probably damaging	Het
Ttc28	A	G	5: 111,325,489 (GRCm39)		probably benign	Het
Uba7	T	C	9: 107,854,713 (GRCm39)		probably benign	Het
Ube4a	T	C	9: 44,860,166 (GRCm39)	I299V	probably benign	Het
Zfhx4	A	C	3: 5,468,701 (GRCm39)	K2953T	probably damaging	Het
Zfp280d	T	A	9: 72,215,395 (GRCm39)		probably benign	Het
Zscan20	G	A	4: 128,482,109 (GRCm39)	R518C	probably benign	Het
Zw10	T	C	9: 48,975,463 (GRCm39)	I296T	possibly 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
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'- CCCAACTTACAAAGAAGGGGCTTT -3'
(R):5'- AACCTTCATGGACCACAGGC -3'

Sequencing Primer
(F):5'- AGAAGGGGCTTTGTAAATCCTGC -3'
(R):5'- TCATGGACCACAGGCCTTTG -3'

Posted On

2016-07-22