Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01611:Ptpn18'

92126

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptpn18

Ensembl Gene

ENSMUSG00000026126

Gene Name

protein tyrosine phosphatase, non-receptor type 18

Synonyms

PTP-K1, FLP1, PTP-HSCF, HSCF, Ptpk1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

IGL01611

Quality Score

Status

Chromosome

Chromosomal Location

34459762-34475733 bp(+) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to C at 34459817 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027302] [ENSMUST00000190122]

AlphaFold

Q61152

Predicted Effect

probably benign
Transcript: ENSMUST00000027302

SMART Domains

Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126

Domain	Start	End	E-Value	Type
PTPc	25	293	7.77e-115	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188884

Predicted Effect

probably benign
Transcript: ENSMUST00000190122

SMART Domains

Protein: ENSMUSP00000139885
Gene: ENSMUSG00000026126

Domain	Start	End	E-Value	Type
PTPc	2	269	9.1e-113	SMART

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, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,907,870	L209S	possibly damaging	Het
Abcc2	G	T	19: 43,826,629	V1152F	probably damaging	Het
Adam9	C	T	8: 24,967,196	V639I	probably benign	Het
Cdc6	A	G	11: 98,915,163	I388V	probably benign	Het
Chrm5	C	T	2: 112,480,306	W155*	probably null	Het
Chrna9	A	G	5: 65,970,944	D161G	probably damaging	Het
Det1	A	G	7: 78,827,954	V541A	possibly damaging	Het
Efhc1	G	T	1: 20,990,687	*649L	probably null	Het
Ehbp1	C	T	11: 22,172,883	V146M	probably damaging	Het
Enam	A	C	5: 88,503,749	D1039A	probably damaging	Het
Fam20b	A	T	1: 156,702,465	V133E	probably benign	Het
Frem2	T	A	3: 53,655,709	Q459L	probably benign	Het
Gapdhs	C	T	7: 30,730,441		probably benign	Het
Gm3404	T	A	5: 146,528,347	V299D	possibly damaging	Het
Gorasp2	C	A	2: 70,689,260	H310N	possibly damaging	Het
Gpr157	T	C	4: 150,101,637	S219P	possibly damaging	Het
Gpt2	T	A	8: 85,519,538	C375*	probably null	Het
Gtf2h3	T	C	5: 124,595,685	S274P	probably damaging	Het
Hmg20b	C	T	10: 81,347,475	V83M	probably benign	Het
Igf2r	G	T	17: 12,725,415	Y400*	probably null	Het
Ipo9	A	T	1: 135,386,693	W942R	possibly damaging	Het
Iqch	T	C	9: 63,496,237		probably null	Het
Kcnh3	T	C	15: 99,229,502	L393P	probably benign	Het
Kcnk12	T	A	17: 87,797,067	I130L	probably benign	Het
Lcorl	T	C	5: 45,747,092	T205A	probably damaging	Het
Lpar6	G	T	14: 73,239,438	A280S	probably damaging	Het
Mgarp	A	T	3: 51,389,149	V152E	probably damaging	Het
Pard3b	A	G	1: 62,637,862	D1184G	probably damaging	Het
Pcnt	A	G	10: 76,436,424		probably null	Het
Pde6b	A	G	5: 108,403,396	N182S	possibly damaging	Het
Pom121	T	C	5: 135,383,672	K516E	unknown	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Rapgef5	C	T	12: 117,753,419		probably benign	Het
Ryr2	A	G	13: 11,591,316	L4460S	possibly damaging	Het
Sema6b	T	C	17: 56,129,969		probably null	Het
Serpinb6d	T	A	13: 33,666,392	C67*	probably null	Het
Sorbs2	T	G	8: 45,795,344	V510G	probably null	Het
Spic	T	A	10: 88,676,002	I131F	possibly damaging	Het
Spire2	T	C	8: 123,359,398	S290P	probably damaging	Het
Tas2r117	C	T	6: 132,803,484	S195F	probably benign	Het
Tas2r117	T	C	6: 132,803,487	V196A	probably damaging	Het
Tff1	C	T	17: 31,162,729	G58D	probably damaging	Het
Tmprss11g	T	C	5: 86,490,781	T283A	probably benign	Het
Toporsl	T	A	4: 52,610,794	L229H	probably damaging	Het
Vmn2r80	G	A	10: 79,171,654	G488D	probably damaging	Het
Vps54	T	A	11: 21,311,082	V583D	probably damaging	Het
Vwa1	T	C	4: 155,770,798	E286G	possibly damaging	Het
Vwde	A	T	6: 13,219,978	I58N	probably damaging	Het
Zbtb11	T	C	16: 55,980,610	V109A	probably damaging	Het
Zfp319	C	T	8: 95,328,912	R221Q	probably benign	Het

Other mutations in Ptpn18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Ptpn18	APN	1	34463119	missense	probably damaging	0.98
IGL01633:Ptpn18	APN	1	34471908	missense	probably benign	0.03
IGL03379:Ptpn18	APN	1	34470257	splice site	probably null
R0848:Ptpn18	UTSW	1	34462702	missense	probably damaging	1.00
R1400:Ptpn18	UTSW	1	34463506	critical splice donor site	probably null
R1973:Ptpn18	UTSW	1	34463109	missense	probably damaging	1.00
R2040:Ptpn18	UTSW	1	34470219	missense	probably damaging	0.99
R2113:Ptpn18	UTSW	1	34471661	missense	probably damaging	1.00
R2963:Ptpn18	UTSW	1	34471692	nonsense	probably null
R4061:Ptpn18	UTSW	1	34472930	missense	possibly damaging	0.66
R4062:Ptpn18	UTSW	1	34472930	missense	possibly damaging	0.66
R4509:Ptpn18	UTSW	1	34462742	missense	possibly damaging	0.49
R4522:Ptpn18	UTSW	1	34472960	missense	probably benign
R4626:Ptpn18	UTSW	1	34471792	splice site	probably null
R4978:Ptpn18	UTSW	1	34469813	intron	probably benign
R5260:Ptpn18	UTSW	1	34463510	splice site	probably benign
R5335:Ptpn18	UTSW	1	34463178	missense	probably damaging	1.00
R5481:Ptpn18	UTSW	1	34471663	missense	possibly damaging	0.67
R5865:Ptpn18	UTSW	1	34471563	splice site	probably benign
R7038:Ptpn18	UTSW	1	34459825	start codon destroyed	probably null	1.00
R7225:Ptpn18	UTSW	1	34472846	missense	possibly damaging	0.58
R7290:Ptpn18	UTSW	1	34462811	critical splice donor site	probably null
R7411:Ptpn18	UTSW	1	34472192	critical splice donor site	probably null
R7434:Ptpn18	UTSW	1	34473364	missense	possibly damaging	0.75
R7441:Ptpn18	UTSW	1	34473335	missense	probably benign	0.00
R7442:Ptpn18	UTSW	1	34462750	missense	probably benign	0.02
R7462:Ptpn18	UTSW	1	34473364	missense	possibly damaging	0.75
R7463:Ptpn18	UTSW	1	34473364	missense	possibly damaging	0.75
R7464:Ptpn18	UTSW	1	34473364	missense	possibly damaging	0.75
R7465:Ptpn18	UTSW	1	34473364	missense	possibly damaging	0.75
R7535:Ptpn18	UTSW	1	34473364	missense	possibly damaging	0.75
R7537:Ptpn18	UTSW	1	34473364	missense	possibly damaging	0.75
R7678:Ptpn18	UTSW	1	34473364	missense	possibly damaging	0.75
R7689:Ptpn18	UTSW	1	34473364	missense	possibly damaging	0.75
R7899:Ptpn18	UTSW	1	34469905	splice site	probably null
R8543:Ptpn18	UTSW	1	34472148	missense	probably benign	0.00
R8821:Ptpn18	UTSW	1	34472190	missense	probably null	1.00
R8831:Ptpn18	UTSW	1	34472190	missense	probably null	1.00
R8858:Ptpn18	UTSW	1	34463115	missense	possibly damaging	0.88
R8879:Ptpn18	UTSW	1	34463130	missense	probably benign	0.23
R8924:Ptpn18	UTSW	1	34459885	missense	probably benign	0.02
R9657:Ptpn18	UTSW	1	34473392	missense	possibly damaging	0.87
X0065:Ptpn18	UTSW	1	34469891	missense	probably damaging	1.00

Posted On

2013-12-09