Mutagenetix > Incidental Mutation

Incidental Mutation 'R7315:Ptprb'

567896

Institutional Source

Beutler Lab

Gene Symbol

Ptprb

Ensembl Gene

ENSMUSG00000020154

Gene Name

protein tyrosine phosphatase, receptor type, B

Synonyms

3230402H02Rik, VE-PTP

MMRRC Submission

045368-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116275523-116389535 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116362379 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1660 (I1660N)

Ref Sequence

ENSEMBL: ENSMUSP00000089805 (fasta)

Gene Model

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

AlphaFold

B2RU80

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092167
AA Change: I1660N

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000089805
Gene: ENSMUSG00000020154
AA Change: I1660N

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: I1947N

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	C	7: 120,294,118 (GRCm38)	I1264L	probably benign	Het
Abcg8	C	A	17: 84,696,714 (GRCm38)	D484E	probably damaging	Het
Abhd13	T	A	8: 9,987,970 (GRCm38)	L189H	probably damaging	Het
Acox2	T	C	14: 8,256,139 (GRCm38)	D60G	probably damaging	Het
Acpp	A	G	9: 104,316,224 (GRCm38)		probably null	Het
Agpat4	C	T	17: 12,210,298 (GRCm38)	R146C	probably damaging	Het
Antxrl	T	C	14: 34,071,547 (GRCm38)	S411P	unknown	Het
B4galt5	A	G	2: 167,301,376 (GRCm38)	V376A	probably damaging	Het
BB287469	A	G	12: 87,819,703 (GRCm38)	E128G	unknown	Het
Camk1d	T	C	2: 5,339,230 (GRCm38)	Y198C	probably damaging	Het
Cd1d1	C	T	3: 86,998,113 (GRCm38)	R191H	possibly damaging	Het
Cd93	A	G	2: 148,442,541 (GRCm38)	V295A	probably damaging	Het
Cdc27	G	A	11: 104,515,444 (GRCm38)	T615I	possibly damaging	Het
Cfap74	T	C	4: 155,463,019 (GRCm38)	Y1221H	unknown	Het
Col24a1	G	A	3: 145,431,870 (GRCm38)	S896N	possibly damaging	Het
Cst7	C	A	2: 150,570,583 (GRCm38)	P22Q	probably benign	Het
Dnah6	C	T	6: 73,084,760 (GRCm38)	A2781T	probably damaging	Het
Dscaml1	G	A	9: 45,745,125 (GRCm38)	A1588T	probably benign	Het
Dsg2	A	T	18: 20,579,160 (GRCm38)	I118F	probably damaging	Het
Eme2	G	A	17: 24,894,866 (GRCm38)	R62W	probably damaging	Het
Epha3	A	T	16: 63,552,609 (GRCm38)	D910E	probably benign	Het
Ext1	T	C	15: 53,073,387 (GRCm38)	D654G	probably damaging	Het
Fam46b	C	T	4: 133,487,084 (GRCm38)	T422I	probably damaging	Het
Fnip2	A	G	3: 79,506,205 (GRCm38)		probably null	Het
Gon4l	T	A	3: 88,895,179 (GRCm38)	H1032Q	probably benign	Het
Ispd	A	G	12: 36,390,374 (GRCm38)	T94A	probably benign	Het
Kitl	G	A	10: 100,016,112 (GRCm38)	R31H	unknown	Het
Lcp2	G	A	11: 34,069,906 (GRCm38)		probably null	Het
Lrp2	T	C	2: 69,491,822 (GRCm38)	H1921R	probably damaging	Het
Lvrn	A	G	18: 46,876,984 (GRCm38)	T400A	probably benign	Het
Mak16	G	A	8: 31,164,738 (GRCm38)	R143*	probably null	Het
Mettl23	A	G	11: 116,849,102 (GRCm38)	I159V	probably benign	Het
Mr1	T	C	1: 155,129,290 (GRCm38)	N335D	probably benign	Het
Muc2	T	C	7: 141,690,402 (GRCm38)	C12R	probably damaging	Het
Myom1	T	C	17: 71,080,897 (GRCm38)		probably null	Het
Nav2	A	G	7: 49,548,289 (GRCm38)	N33S	possibly damaging	Het
Ninl	A	G	2: 150,950,050 (GRCm38)	V851A	probably benign	Het
Nmt1	A	G	11: 103,060,183 (GRCm38)	N367D	probably benign	Het
Noc2l	T	G	4: 156,241,360 (GRCm38)	S354R	probably damaging	Het
Olfr104-ps	G	T	17: 37,362,660 (GRCm38)	C181F	probably damaging	Het
Olfr1302	T	C	2: 111,780,659 (GRCm38)	V113A	probably damaging	Het
Olfr151	T	C	9: 37,730,576 (GRCm38)	M136V	probably benign	Het
Olfr198	A	G	16: 59,202,133 (GRCm38)	F98L	probably benign	Het
Olfr293	T	C	7: 86,664,237 (GRCm38)	S192P	probably damaging	Het
Olfr70	T	A	4: 43,696,961 (GRCm38)	I71F	probably damaging	Het
Olfr860	G	T	9: 19,845,835 (GRCm38)	S261R	probably damaging	Het
Olfr877	A	T	9: 37,855,247 (GRCm38)	Y143F	probably benign	Het
Opn1sw	A	T	6: 29,379,363 (GRCm38)	I214N	probably damaging	Het
Papss2	T	C	19: 32,639,225 (GRCm38)	V217A	possibly damaging	Het
Pes1	A	G	11: 3,976,085 (GRCm38)	I291M	probably benign	Het
Pqlc2	G	A	4: 139,301,870 (GRCm38)	T101M	probably damaging	Het
Rapgef1	C	A	2: 29,734,492 (GRCm38)	T1030K	probably damaging	Het
Rassf8	A	G	6: 145,815,751 (GRCm38)	M268V	probably benign	Het
Rbl2	A	T	8: 91,076,012 (GRCm38)	T154S	probably damaging	Het
Rgs1	A	G	1: 144,248,899 (GRCm38)		probably null	Het
Rpgrip1	C	T	14: 52,121,001 (GRCm38)	T188I	not run	Het
Rrp1b	T	A	17: 32,058,571 (GRCm38)	F608L	probably benign	Het
Sbp	C	T	17: 23,945,306 (GRCm38)	A154V	probably benign	Het
Scara3	C	T	14: 65,931,440 (GRCm38)	E243K	probably damaging	Het
Serpinb6b	A	T	13: 32,972,257 (GRCm38)	D110V	probably benign	Het
Skiv2l	T	A	17: 34,841,169 (GRCm38)	D875V	probably benign	Het
Slc2a4	G	C	11: 69,946,433 (GRCm38)	T59R	probably damaging	Het
Slc4a1	A	G	11: 102,356,484 (GRCm38)	S462P	probably damaging	Het
Snx33	C	T	9: 56,925,867 (GRCm38)	R306H	probably damaging	Het
Srf	T	C	17: 46,551,794 (GRCm38)		probably null	Het
Steap3	A	G	1: 120,227,912 (GRCm38)	V439A	probably benign	Het
Syt10	C	T	15: 89,814,338 (GRCm38)	D268N	probably damaging	Het
Terf2	T	C	8: 107,081,217 (GRCm38)	N242S	probably benign	Het
Tex15	A	G	8: 33,581,516 (GRCm38)	T2364A	probably benign	Het
Tgfbr2	A	T	9: 116,109,738 (GRCm38)	H365Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,723,528 (GRCm38)	N837K	probably benign	Het
Trim67	T	A	8: 124,794,330 (GRCm38)	S144T	probably benign	Het
Zc3hav1l	T	G	6: 38,295,147 (GRCm38)	D229A	possibly damaging	Het
Zmym4	A	T	4: 126,882,592 (GRCm38)	V1184E	probably benign	Het

Other mutations in Ptprb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Ptprb	APN	10	116,362,648 (GRCm38)	missense	probably benign	0.15
IGL01354:Ptprb	APN	10	116,343,891 (GRCm38)	missense	probably benign	0.24
IGL01404:Ptprb	APN	10	116,339,436 (GRCm38)	missense	probably benign	0.14
IGL01410:Ptprb	APN	10	116,302,274 (GRCm38)	missense	possibly damaging	0.60
IGL01412:Ptprb	APN	10	116,343,915 (GRCm38)	missense	probably benign	0.27
IGL01731:Ptprb	APN	10	116,372,876 (GRCm38)	missense	probably damaging	1.00
IGL02003:Ptprb	APN	10	116,367,505 (GRCm38)	missense	probably damaging	1.00
IGL02110:Ptprb	APN	10	116,331,203 (GRCm38)	splice site	probably benign
IGL02178:Ptprb	APN	10	116,322,532 (GRCm38)	missense	probably benign	0.00
IGL02304:Ptprb	APN	10	116,331,259 (GRCm38)	missense	probably damaging	1.00
IGL02324:Ptprb	APN	10	116,319,333 (GRCm38)	missense	probably benign	0.03
IGL02388:Ptprb	APN	10	116,367,521 (GRCm38)	missense	probably damaging	1.00
IGL02640:Ptprb	APN	10	116,338,664 (GRCm38)	missense	probably damaging	0.99
IGL02698:Ptprb	APN	10	116,363,280 (GRCm38)	missense	probably benign	0.05
IGL02876:Ptprb	APN	10	116,348,211 (GRCm38)	splice site	probably benign
IGL02879:Ptprb	APN	10	116,327,968 (GRCm38)	missense	probably benign
IGL02982:Ptprb	APN	10	116,322,628 (GRCm38)	missense	probably benign	0.20
IGL03146:Ptprb	APN	10	116,328,127 (GRCm38)	missense	probably benign	0.14
IGL03351:Ptprb	APN	10	116,339,582 (GRCm38)	missense	probably benign	0.03
R0306:Ptprb	UTSW	10	116,343,988 (GRCm38)	missense	probably benign	0.04
R0385:Ptprb	UTSW	10	116,350,178 (GRCm38)	missense	probably benign	0.00
R0600:Ptprb	UTSW	10	116,368,807 (GRCm38)	missense	possibly damaging	0.63
R0613:Ptprb	UTSW	10	116,302,378 (GRCm38)	missense	possibly damaging	0.87
R0613:Ptprb	UTSW	10	116,302,325 (GRCm38)	missense	possibly damaging	0.59
R0850:Ptprb	UTSW	10	116,339,510 (GRCm38)	missense	probably damaging	1.00
R0850:Ptprb	UTSW	10	116,302,125 (GRCm38)	missense	possibly damaging	0.87
R1331:Ptprb	UTSW	10	116,367,532 (GRCm38)	missense	probably damaging	1.00
R1413:Ptprb	UTSW	10	116,339,679 (GRCm38)	missense	probably damaging	1.00
R1418:Ptprb	UTSW	10	116,319,470 (GRCm38)	missense	probably benign	0.00
R1545:Ptprb	UTSW	10	116,380,869 (GRCm38)	missense	probably damaging	1.00
R1562:Ptprb	UTSW	10	116,339,467 (GRCm38)	missense	probably benign	0.00
R1752:Ptprb	UTSW	10	116,340,990 (GRCm38)	missense	probably benign	0.44
R1837:Ptprb	UTSW	10	116,341,626 (GRCm38)	missense	probably benign	0.00
R1940:Ptprb	UTSW	10	116,319,610 (GRCm38)	splice site	probably benign
R1958:Ptprb	UTSW	10	116,341,536 (GRCm38)	missense	probably benign	0.10
R2029:Ptprb	UTSW	10	116,347,053 (GRCm38)	missense	probably benign	0.37
R2031:Ptprb	UTSW	10	116,317,543 (GRCm38)	missense	probably benign
R2101:Ptprb	UTSW	10	116,315,038 (GRCm38)	splice site	probably benign
R2209:Ptprb	UTSW	10	116,369,357 (GRCm38)	missense	probably damaging	1.00
R3016:Ptprb	UTSW	10	116,357,295 (GRCm38)	missense	possibly damaging	0.64
R3076:Ptprb	UTSW	10	116,344,026 (GRCm38)	missense	probably damaging	0.99
R3821:Ptprb	UTSW	10	116,350,074 (GRCm38)	missense	probably benign	0.11
R3824:Ptprb	UTSW	10	116,350,789 (GRCm38)	missense	probably benign	0.05
R3825:Ptprb	UTSW	10	116,350,789 (GRCm38)	missense	probably benign	0.05
R3841:Ptprb	UTSW	10	116,346,982 (GRCm38)	missense	possibly damaging	0.79
R3953:Ptprb	UTSW	10	116,341,494 (GRCm38)	missense	probably benign	0.00
R4125:Ptprb	UTSW	10	116,353,849 (GRCm38)	missense	probably benign	0.12
R4227:Ptprb	UTSW	10	116,302,225 (GRCm38)	missense	possibly damaging	0.96
R4385:Ptprb	UTSW	10	116,346,867 (GRCm38)	missense	probably benign
R4731:Ptprb	UTSW	10	116,319,333 (GRCm38)	missense	probably benign	0.03
R5009:Ptprb	UTSW	10	116,348,127 (GRCm38)	missense	possibly damaging	0.61
R5104:Ptprb	UTSW	10	116,322,459 (GRCm38)	missense	probably benign	0.17
R5114:Ptprb	UTSW	10	116,348,183 (GRCm38)	missense	possibly damaging	0.59
R5145:Ptprb	UTSW	10	116,343,915 (GRCm38)	missense	probably benign	0.27
R5214:Ptprb	UTSW	10	116,369,324 (GRCm38)	missense	possibly damaging	0.75
R5382:Ptprb	UTSW	10	116,353,871 (GRCm38)	missense	probably damaging	1.00
R5553:Ptprb	UTSW	10	116,350,185 (GRCm38)	missense	probably damaging	1.00
R5585:Ptprb	UTSW	10	116,380,854 (GRCm38)	missense	probably damaging	0.98
R5586:Ptprb	UTSW	10	116,353,827 (GRCm38)	missense	probably damaging	1.00
R5808:Ptprb	UTSW	10	116,339,487 (GRCm38)	missense	probably benign	0.00
R5875:Ptprb	UTSW	10	116,348,166 (GRCm38)	missense	probably benign	0.00
R6051:Ptprb	UTSW	10	116,341,090 (GRCm38)	nonsense	probably null
R6383:Ptprb	UTSW	10	116,347,007 (GRCm38)	nonsense	probably null
R6511:Ptprb	UTSW	10	116,346,820 (GRCm38)	missense	probably damaging	1.00
R6817:Ptprb	UTSW	10	116,283,677 (GRCm38)	small deletion	probably benign
R6826:Ptprb	UTSW	10	116,317,372 (GRCm38)	missense	probably benign	0.26
R6958:Ptprb	UTSW	10	116,277,248 (GRCm38)	missense	probably benign	0.32
R7103:Ptprb	UTSW	10	116,338,813 (GRCm38)	missense	probably damaging	1.00
R7129:Ptprb	UTSW	10	116,283,677 (GRCm38)	small deletion	probably benign
R7181:Ptprb	UTSW	10	116,368,766 (GRCm38)	missense	probably damaging	1.00
R7215:Ptprb	UTSW	10	116,338,776 (GRCm38)	missense	possibly damaging	0.94
R7289:Ptprb	UTSW	10	116,328,165 (GRCm38)	missense	probably damaging	0.99
R7319:Ptprb	UTSW	10	116,341,404 (GRCm38)	missense	probably benign	0.01
R7381:Ptprb	UTSW	10	116,341,133 (GRCm38)	missense	probably benign
R7412:Ptprb	UTSW	10	116,341,138 (GRCm38)	missense	probably benign
R7483:Ptprb	UTSW	10	116,283,429 (GRCm38)	missense	probably benign	0.01
R7495:Ptprb	UTSW	10	116,341,448 (GRCm38)	missense	probably benign	0.12
R7508:Ptprb	UTSW	10	116,353,991 (GRCm38)	nonsense	probably null
R7571:Ptprb	UTSW	10	116,339,430 (GRCm38)	missense	probably damaging	1.00
R7586:Ptprb	UTSW	10	116,343,874 (GRCm38)	missense	probably damaging	0.97
R7623:Ptprb	UTSW	10	116,369,309 (GRCm38)	missense	possibly damaging	0.63
R7694:Ptprb	UTSW	10	116,372,948 (GRCm38)	missense	probably damaging	1.00
R7744:Ptprb	UTSW	10	116,277,484 (GRCm38)	missense	probably benign	0.10
R7752:Ptprb	UTSW	10	116,369,428 (GRCm38)	missense	probably benign	0.37
R7826:Ptprb	UTSW	10	116,283,677 (GRCm38)	small deletion	probably benign
R7833:Ptprb	UTSW	10	116,315,251 (GRCm38)	missense	probably benign	0.01
R7834:Ptprb	UTSW	10	116,339,424 (GRCm38)	missense	probably benign	0.00
R7846:Ptprb	UTSW	10	116,283,548 (GRCm38)	missense	probably benign	0.17
R7896:Ptprb	UTSW	10	116,369,457 (GRCm38)	splice site	probably null
R7901:Ptprb	UTSW	10	116,369,428 (GRCm38)	missense	probably benign	0.37
R7912:Ptprb	UTSW	10	116,322,487 (GRCm38)	missense	probably damaging	1.00
R7941:Ptprb	UTSW	10	116,283,677 (GRCm38)	small deletion	probably benign
R8147:Ptprb	UTSW	10	116,317,378 (GRCm38)	missense	probably damaging	1.00
R8202:Ptprb	UTSW	10	116,353,845 (GRCm38)	missense	probably damaging	1.00
R8339:Ptprb	UTSW	10	116,283,451 (GRCm38)	missense	probably benign	0.14
R8400:Ptprb	UTSW	10	116,283,572 (GRCm38)	small deletion	probably benign
R8504:Ptprb	UTSW	10	116,341,031 (GRCm38)	missense	probably benign	0.27
R8679:Ptprb	UTSW	10	116,367,590 (GRCm38)	missense	probably damaging	1.00
R8786:Ptprb	UTSW	10	116,319,401 (GRCm38)	missense	probably benign	0.40
R8914:Ptprb	UTSW	10	116,322,662 (GRCm38)	nonsense	probably null
R8980:Ptprb	UTSW	10	116,283,621 (GRCm38)	missense	probably benign	0.07
R8982:Ptprb	UTSW	10	116,283,677 (GRCm38)	small deletion	probably benign
R9256:Ptprb	UTSW	10	116,383,871 (GRCm38)	missense	probably damaging	1.00
R9288:Ptprb	UTSW	10	116,319,448 (GRCm38)	missense	probably benign	0.03
R9369:Ptprb	UTSW	10	116,315,152 (GRCm38)	missense	probably benign	0.00
R9448:Ptprb	UTSW	10	116,313,914 (GRCm38)	nonsense	probably null
R9467:Ptprb	UTSW	10	116,322,485 (GRCm38)	missense	probably benign	0.00
R9468:Ptprb	UTSW	10	116,277,369 (GRCm38)	missense	probably benign	0.00
R9481:Ptprb	UTSW	10	116,319,448 (GRCm38)	missense	probably benign	0.03
R9486:Ptprb	UTSW	10	116,319,589 (GRCm38)	nonsense	probably null
R9513:Ptprb	UTSW	10	116,302,237 (GRCm38)	missense	probably benign	0.00
R9529:Ptprb	UTSW	10	116,338,614 (GRCm38)	critical splice acceptor site	probably null
R9535:Ptprb	UTSW	10	116,322,526 (GRCm38)	missense	possibly damaging	0.92
R9614:Ptprb	UTSW	10	116,367,536 (GRCm38)	missense	probably damaging	1.00
R9686:Ptprb	UTSW	10	116,368,789 (GRCm38)	missense	probably damaging	1.00
RF041:Ptprb	UTSW	10	116,283,677 (GRCm38)	small deletion	probably benign
X0020:Ptprb	UTSW	10	116,302,180 (GRCm38)	missense	possibly damaging	0.62
Z1176:Ptprb	UTSW	10	116,302,156 (GRCm38)	frame shift	probably null
Z1177:Ptprb	UTSW	10	116,362,642 (GRCm38)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTTGCCTCAAAGAGATGCTGG -3'
(R):5'- GTCTGAATTGGATGTTGAAAGCAG -3'

Sequencing Primer
(F):5'- GCTGAGTGCAGACTTCCATG -3'
(R):5'- GAAAGAGGGACCTTGTTAG -3'

Posted On

2019-06-26