Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03003:Ptprz1'

407429

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptprz1

Ensembl Gene

ENSMUSG00000068748

Gene Name

protein tyrosine phosphatase, receptor type Z, polypeptide 1

Synonyms

PTPzeta, RPTPz, phosphacan, Rptpbeta, DSD-1-PG, PTPbeta, Ptprz, Ptpz

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

IGL03003

Quality Score

Status

Chromosome

Chromosomal Location

22875502-23052916 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23002583 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1557 (N1557K)

Ref Sequence

ENSEMBL: ENSMUSP00000144605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090568] [ENSMUST00000202102] [ENSMUST00000202579]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090568
AA Change: N1557K

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088056
Gene: ENSMUSG00000068748
AA Change: N1557K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Carb_anhydrase	38	300	5.12e-99	SMART
FN3	312	397	5.53e-4	SMART
low complexity region	588	609	N/A	INTRINSIC
low complexity region	825	837	N/A	INTRINSIC
low complexity region	1417	1441	N/A	INTRINSIC
low complexity region	1485	1495	N/A	INTRINSIC
Blast:PTPc	1497	1573	1e-12	BLAST
low complexity region	1606	1620	N/A	INTRINSIC
transmembrane domain	1637	1659	N/A	INTRINSIC
low complexity region	1679	1693	N/A	INTRINSIC
PTPc	1720	1991	2.8e-130	SMART
PTPc	2019	2281	1.65e-77	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201827

Predicted Effect

probably benign
Transcript: ENSMUST00000202102

SMART Domains

Protein: ENSMUSP00000143902
Gene: ENSMUSG00000068748

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Carb_anhydrase	38	300	5.12e-99	SMART
FN3	312	397	5.53e-4	SMART
low complexity region	588	609	N/A	INTRINSIC
transmembrane domain	788	810	N/A	INTRINSIC
low complexity region	830	844	N/A	INTRINSIC
PTPc	871	1142	2.8e-130	SMART
PTPc	1170	1432	1.65e-77	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000202579
AA Change: N1557K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144605
Gene: ENSMUSG00000068748
AA Change: N1557K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Carb_anhydrase	38	300	4e-103	SMART
FN3	312	397	2.8e-6	SMART
low complexity region	588	609	N/A	INTRINSIC
low complexity region	825	837	N/A	INTRINSIC
low complexity region	1417	1441	N/A	INTRINSIC
low complexity region	1485	1495	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the receptor protein tyrosine phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be involved in the regulation of specific developmental processes in the CNS. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for targeted null mutations demonstrate an impaired ability to recover from inflamatory lesions of the CNS or gastric mucosa. Mice homozygous for a knock-out allele exhibit increased tactile and thermal nociception thresholds. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,743,772	P577L	probably damaging	Het
Aff3	A	T	1: 38,209,570	S819T	probably damaging	Het
Aftph	G	T	11: 20,726,982	S209*	probably null	Het
Astn1	T	A	1: 158,612,395	D844E	probably benign	Het
Cc2d2a	A	G	5: 43,671,266	K29E	probably benign	Het
Ccdc93	T	C	1: 121,463,117	S273P	possibly damaging	Het
Cd200r3	G	T	16: 44,943,775	M1I	probably null	Het
Cd200r3	C	A	16: 44,943,776	H2N	probably benign	Het
Col7a1	G	A	9: 108,974,956		probably null	Het
Cyp3a41a	T	A	5: 145,705,830	M240L	probably benign	Het
D430042O09Rik	A	T	7: 125,851,960	I1088F	probably damaging	Het
Dcstamp	T	C	15: 39,754,510	V105A	possibly damaging	Het
Dmbt1	C	A	7: 131,082,679	P635Q	probably benign	Het
Dsg1a	T	A	18: 20,336,819	M634K	probably benign	Het
Farp2	T	C	1: 93,567,418	Y138H	probably damaging	Het
Fga	T	C	3: 83,032,730	S564P	probably damaging	Het
Gbf1	T	C	19: 46,255,655	L142S	probably damaging	Het
Gm5422	T	C	10: 31,250,844		noncoding transcript	Het
Helz2	A	G	2: 181,240,253	V249A	probably damaging	Het
Hmcn2	C	A	2: 31,433,486	T4204K	probably damaging	Het
Ift81	T	C	5: 122,594,662	I270V	probably benign	Het
Kif6	C	T	17: 49,753,871	R411*	probably null	Het
Klhl35	T	A	7: 99,470,343	V345D	probably damaging	Het
Mcm3ap	C	A	10: 76,504,697	D1531E	probably benign	Het
Muc5b	C	A	7: 141,863,614	D3432E	probably benign	Het
Nipbl	A	T	15: 8,350,314	V998D	probably damaging	Het
Nlrc3	C	A	16: 3,964,862	V228L	probably benign	Het
Nrap	T	C	19: 56,321,952	H1456R	probably damaging	Het
Nt5c1b	C	T	12: 10,374,910	A210V	possibly damaging	Het
Olfr364-ps1	T	C	2: 37,146,452	V80A	probably benign	Het
Olfr46	A	G	7: 140,610,370	Y60C	probably damaging	Het
Osbpl7	T	C	11: 97,050,695	Y15H	probably benign	Het
Pde8b	T	A	13: 95,041,957	N552Y	probably damaging	Het
Pi4kb	T	A	3: 94,984,812	S280T	probably benign	Het
Pkd1	T	A	17: 24,593,603		probably null	Het
Polh	A	T	17: 46,194,366	V108E	possibly damaging	Het
Prob1	A	G	18: 35,653,375	S609P	possibly damaging	Het
Rev1	A	C	1: 38,088,073	F369V	possibly damaging	Het
Rgma	A	G	7: 73,417,440	N148D	probably damaging	Het
Robo3	A	G	9: 37,419,291	L1003S	probably damaging	Het
Sdhb	T	C	4: 140,973,000	V137A	probably damaging	Het
Sema6c	T	C	3: 95,169,614	L337P	probably damaging	Het
Shc4	A	T	2: 125,723,333	Y15*	probably null	Het
Slc4a9	T	C	18: 36,536,893	S722P	probably damaging	Het
Smarcc1	A	G	9: 110,206,100	N864D	probably damaging	Het
Sspo	T	C	6: 48,455,087	L745P	probably damaging	Het
Syce1l	A	G	8: 113,654,067	D137G	probably damaging	Het
Tbc1d1	G	T	5: 64,316,438	W768L	probably damaging	Het
Tmbim7	A	G	5: 3,661,887	D7G	probably benign	Het
Tmem109	A	C	19: 10,874,331	S64A	probably benign	Het
Tnfrsf21	A	G	17: 43,039,943	R333G	probably damaging	Het
Ttn	T	G	2: 76,781,611	S17316R	probably damaging	Het
Usp10	A	G	8: 119,954,810	T668A	possibly damaging	Het
Xirp2	T	A	2: 67,515,562	F2716I	possibly damaging	Het

Other mutations in Ptprz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Ptprz1	APN	6	22973054	missense	probably damaging	1.00
IGL00773:Ptprz1	APN	6	23002629	missense	probably benign	0.41
IGL01458:Ptprz1	APN	6	22972844	missense	probably damaging	0.99
IGL01481:Ptprz1	APN	6	22999980	missense	probably benign	0.05
IGL01501:Ptprz1	APN	6	22973082	missense	probably damaging	1.00
IGL01601:Ptprz1	APN	6	23000438	missense	probably damaging	0.99
IGL01882:Ptprz1	APN	6	23000464	missense	probably damaging	1.00
IGL02058:Ptprz1	APN	6	23002503	missense	probably benign	0.00
IGL02089:Ptprz1	APN	6	23033448	missense	probably damaging	1.00
IGL02136:Ptprz1	APN	6	22972822	missense	probably damaging	1.00
IGL02215:Ptprz1	APN	6	22965182	missense	possibly damaging	0.91
IGL02220:Ptprz1	APN	6	23042743	splice site	probably benign
IGL02556:Ptprz1	APN	6	22972845	missense	probably benign	0.01
IGL02601:Ptprz1	APN	6	23000687	missense	probably benign	0.11
IGL02620:Ptprz1	APN	6	22959740	missense	probably damaging	1.00
IGL02666:Ptprz1	APN	6	23001210	missense	probably benign	0.00
IGL02718:Ptprz1	APN	6	23001349	missense	possibly damaging	0.77
IGL02792:Ptprz1	APN	6	22959723	missense	probably damaging	1.00
IGL02894:Ptprz1	APN	6	23035149	missense	probably damaging	1.00
IGL02952:Ptprz1	APN	6	23036926	missense	probably damaging	1.00
IGL03060:Ptprz1	APN	6	22972835	missense	probably damaging	1.00
IGL03170:Ptprz1	APN	6	22959767	missense	probably benign	0.00
IGL03246:Ptprz1	APN	6	22986160	missense	probably damaging	0.99
IGL03349:Ptprz1	APN	6	23000332	missense	probably damaging	1.00
IGL03365:Ptprz1	APN	6	23030582	splice site	probably benign
R0044:Ptprz1	UTSW	6	23007403	missense	probably damaging	1.00
R0054:Ptprz1	UTSW	6	22986196	missense	probably damaging	1.00
R0054:Ptprz1	UTSW	6	22986196	missense	probably damaging	1.00
R0107:Ptprz1	UTSW	6	23000570	missense	probably damaging	0.98
R0278:Ptprz1	UTSW	6	23000817	missense	probably benign	0.31
R0345:Ptprz1	UTSW	6	23016165	missense	probably damaging	1.00
R0359:Ptprz1	UTSW	6	22973176	splice site	probably benign
R0743:Ptprz1	UTSW	6	23044367	nonsense	probably null
R1014:Ptprz1	UTSW	6	23000644	missense	probably damaging	1.00
R1016:Ptprz1	UTSW	6	23000974	missense	probably damaging	1.00
R1106:Ptprz1	UTSW	6	22965749	missense	probably damaging	0.99
R1391:Ptprz1	UTSW	6	23001729	missense	probably benign	0.33
R1424:Ptprz1	UTSW	6	23000383	missense	probably benign	0.00
R1445:Ptprz1	UTSW	6	23050474	missense	probably damaging	1.00
R1496:Ptprz1	UTSW	6	23049524	splice site	probably benign
R1544:Ptprz1	UTSW	6	23000748	missense	possibly damaging	0.63
R1626:Ptprz1	UTSW	6	23001574	missense	probably benign
R1641:Ptprz1	UTSW	6	23049606	missense	probably damaging	1.00
R1757:Ptprz1	UTSW	6	23044320	missense	probably damaging	1.00
R1812:Ptprz1	UTSW	6	22959712	missense	probably benign	0.07
R1917:Ptprz1	UTSW	6	23035040	splice site	probably benign
R1930:Ptprz1	UTSW	6	23007355	missense	probably damaging	1.00
R1931:Ptprz1	UTSW	6	23007355	missense	probably damaging	1.00
R1974:Ptprz1	UTSW	6	22986311	missense	probably damaging	1.00
R1992:Ptprz1	UTSW	6	22959748	missense	probably benign	0.24
R1997:Ptprz1	UTSW	6	23050497	missense	probably damaging	0.99
R2002:Ptprz1	UTSW	6	23027834	nonsense	probably null
R2012:Ptprz1	UTSW	6	23001027	missense	probably benign	0.03
R2059:Ptprz1	UTSW	6	22986323	splice site	probably benign
R2061:Ptprz1	UTSW	6	23049675	critical splice donor site	probably null
R2064:Ptprz1	UTSW	6	23050389	splice site	probably benign
R2067:Ptprz1	UTSW	6	23050389	splice site	probably benign
R2108:Ptprz1	UTSW	6	23033477	missense	probably damaging	0.99
R2152:Ptprz1	UTSW	6	23030671	missense	probably damaging	0.99
R2166:Ptprz1	UTSW	6	23045633	missense	possibly damaging	0.90
R2183:Ptprz1	UTSW	6	23002285	missense	probably benign
R2202:Ptprz1	UTSW	6	23000650	missense	possibly damaging	0.63
R2238:Ptprz1	UTSW	6	22987377	missense	probably damaging	1.00
R2290:Ptprz1	UTSW	6	23000991	missense	probably damaging	1.00
R3027:Ptprz1	UTSW	6	23016197	missense	possibly damaging	0.89
R3861:Ptprz1	UTSW	6	23036895	missense	probably damaging	0.98
R4012:Ptprz1	UTSW	6	23002585	missense	probably damaging	0.99
R4020:Ptprz1	UTSW	6	22959624	splice site	probably benign
R4158:Ptprz1	UTSW	6	23001684	nonsense	probably null
R4158:Ptprz1	UTSW	6	23022205	missense	possibly damaging	0.73
R4159:Ptprz1	UTSW	6	23001684	nonsense	probably null
R4160:Ptprz1	UTSW	6	23022205	missense	possibly damaging	0.73
R4606:Ptprz1	UTSW	6	23001487	missense	possibly damaging	0.80
R4621:Ptprz1	UTSW	6	23001454	missense	possibly damaging	0.68
R4640:Ptprz1	UTSW	6	22972798	missense	probably damaging	1.00
R4731:Ptprz1	UTSW	6	23002610	missense	probably benign	0.06
R4732:Ptprz1	UTSW	6	23002610	missense	probably benign	0.06
R4733:Ptprz1	UTSW	6	23002610	missense	probably benign	0.06
R4803:Ptprz1	UTSW	6	23001546	missense	probably benign	0.00
R4890:Ptprz1	UTSW	6	23024958	missense	probably damaging	1.00
R5035:Ptprz1	UTSW	6	23016215	missense	probably benign	0.06
R5052:Ptprz1	UTSW	6	23045626	missense	probably damaging	1.00
R5106:Ptprz1	UTSW	6	23000028	missense	probably benign	0.04
R5248:Ptprz1	UTSW	6	23001901	missense	probably benign	0.11
R5292:Ptprz1	UTSW	6	23002582	missense	probably benign	0.31
R5373:Ptprz1	UTSW	6	23007355	missense	probably damaging	1.00
R5374:Ptprz1	UTSW	6	23007355	missense	probably damaging	1.00
R5378:Ptprz1	UTSW	6	23007402	missense	probably damaging	1.00
R5408:Ptprz1	UTSW	6	23002600	missense	probably damaging	1.00
R5479:Ptprz1	UTSW	6	23001666	missense	probably benign
R5524:Ptprz1	UTSW	6	22986318	splice site	probably null
R5527:Ptprz1	UTSW	6	23000053	missense	possibly damaging	0.66
R5557:Ptprz1	UTSW	6	23001001	missense	probably benign	0.04
R5654:Ptprz1	UTSW	6	22986134	missense	probably damaging	1.00
R5655:Ptprz1	UTSW	6	22999773	missense	probably benign	0.00
R5658:Ptprz1	UTSW	6	23016189	missense	probably damaging	1.00
R5663:Ptprz1	UTSW	6	23035143	missense	probably damaging	1.00
R5765:Ptprz1	UTSW	6	23000236	missense	probably damaging	1.00
R5822:Ptprz1	UTSW	6	23001445	missense	probably benign	0.01
R5837:Ptprz1	UTSW	6	23001418	missense	probably benign	0.00
R6108:Ptprz1	UTSW	6	23045659	missense	probably damaging	1.00
R6199:Ptprz1	UTSW	6	23002471	missense	probably benign	0.01
R6245:Ptprz1	UTSW	6	23051990	missense	probably damaging	1.00
R6257:Ptprz1	UTSW	6	22959640	missense	probably damaging	1.00
R6488:Ptprz1	UTSW	6	23001517	nonsense	probably null
R6606:Ptprz1	UTSW	6	23002501	missense	probably benign	0.27
R6612:Ptprz1	UTSW	6	23052082	missense	probably damaging	1.00
R6824:Ptprz1	UTSW	6	23002131	missense	probably benign	0.05
R6834:Ptprz1	UTSW	6	22999633	missense	probably benign	0.38
R6836:Ptprz1	UTSW	6	23030665	nonsense	probably null
R6991:Ptprz1	UTSW	6	23002687	missense	probably benign	0.00
R7044:Ptprz1	UTSW	6	23044346	missense	probably damaging	1.00
R7048:Ptprz1	UTSW	6	22961623	missense	probably benign	0.18
R7225:Ptprz1	UTSW	6	23000929	missense	possibly damaging	0.61
R7284:Ptprz1	UTSW	6	23000098	missense	probably damaging	1.00
R7360:Ptprz1	UTSW	6	23000907	missense	probably damaging	1.00
R7501:Ptprz1	UTSW	6	23001747	nonsense	probably null
R7515:Ptprz1	UTSW	6	23022267	missense	probably damaging	1.00
R7538:Ptprz1	UTSW	6	22999896	missense	possibly damaging	0.81
R7567:Ptprz1	UTSW	6	22959780	missense	probably damaging	0.97
R7599:Ptprz1	UTSW	6	23002519	missense	not run
R7611:Ptprz1	UTSW	6	23001220	missense	probably benign
R7685:Ptprz1	UTSW	6	23024978	missense	probably damaging	1.00
R7707:Ptprz1	UTSW	6	23002296	missense	probably benign	0.00
R7733:Ptprz1	UTSW	6	23000384	missense	probably benign	0.31
R7786:Ptprz1	UTSW	6	23036993	missense	probably damaging	1.00

Posted On

2016-08-02