Mutagenetix > Incidental Mutation

Incidental Mutation 'R7290:Ptpn18'

566293

Institutional Source

Beutler Lab

Gene Symbol

Ptpn18

Ensembl Gene

ENSMUSG00000026126

Gene Name

protein tyrosine phosphatase, non-receptor type 18

Synonyms

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

MMRRC Submission

045362-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R7290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34498843-34514814 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 34501892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027302 (fasta)

Gene Model

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

AlphaFold

Q61152

Predicted Effect

probably null
Transcript: ENSMUST00000027302

SMART Domains

Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126

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

Predicted Effect

probably null
Transcript: ENSMUST00000190122

SMART Domains

Protein: ENSMUSP00000139885
Gene: ENSMUSG00000026126

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,921,714 (GRCm39)	M1447L	probably benign	Het
Adam30	G	A	3: 98,070,257 (GRCm39)	V697I	probably benign	Het
Adamts12	A	G	15: 11,277,452 (GRCm39)	N689D	probably benign	Het
Adamts15	T	C	9: 30,813,906 (GRCm39)	K753R	probably benign	Het
Adra2a	T	C	19: 54,034,835 (GRCm39)	F64L	probably damaging	Het
Ankub1	A	G	3: 57,580,345 (GRCm39)	L104P	probably damaging	Het
Arel1	A	G	12: 84,988,719 (GRCm39)	V10A	probably benign	Het
Atad2	A	T	15: 57,962,047 (GRCm39)	N1165K	probably benign	Het
Atp6v0d2	T	A	4: 19,880,060 (GRCm39)	D279V	probably benign	Het
Cadps	A	T	14: 12,616,099 (GRCm38)	D310E	probably damaging	Het
Caskin2	T	C	11: 115,695,615 (GRCm39)	I249V	possibly damaging	Het
Cdh23	T	C	10: 60,212,620 (GRCm39)	N1598S	probably benign	Het
Cep250	A	T	2: 155,834,682 (GRCm39)	Q2202H	probably benign	Het
Ces5a	T	A	8: 94,261,311 (GRCm39)	T35S	probably damaging	Het
Cnot11	G	A	1: 39,579,020 (GRCm39)	W295*	probably null	Het
Cntnap5a	G	T	1: 116,149,619 (GRCm39)	W565L	probably damaging	Het
Dgka	T	C	10: 128,569,468 (GRCm39)	E148G	probably damaging	Het
Dnah14	G	A	1: 181,455,739 (GRCm39)	D955N	probably benign	Het
Erbin	G	A	13: 103,998,834 (GRCm39)	T184I	probably damaging	Het
Fam20c	G	T	5: 138,793,309 (GRCm39)	G477W	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fgfr4	T	C	13: 55,309,262 (GRCm39)	V433A	probably benign	Het
Gal3st1	A	T	11: 3,948,093 (GRCm39)	Q100L	possibly damaging	Het
Gfra2	T	C	14: 71,163,380 (GRCm39)	F221S	probably damaging	Het
Gm19965	G	A	1: 116,748,921 (GRCm39)	V201M		Het
Gnb1l	A	T	16: 18,382,806 (GRCm39)	T282S	probably benign	Het
Gpr171	A	T	3: 59,005,147 (GRCm39)	N209K	probably benign	Het
Greb1	G	A	12: 16,761,739 (GRCm39)	T547I	probably damaging	Het
Ifi214	A	T	1: 173,357,097 (GRCm39)	V2E	probably benign	Het
Ighv1-71	T	C	12: 115,706,267 (GRCm39)	M1V	probably null	Het
Itm2b	C	T	14: 73,605,785 (GRCm39)	G67D	probably damaging	Het
Kif21a	A	T	15: 90,851,432 (GRCm39)	C995*	probably null	Het
Kifc2	A	T	15: 76,544,904 (GRCm39)	Y13F	probably damaging	Het
Lamb1	T	A	12: 31,315,595 (GRCm39)	V59D	probably benign	Het
Lhx1	A	T	11: 84,412,703 (GRCm39)	D163E	probably damaging	Het
Lrrc1	A	T	9: 77,365,121 (GRCm39)	Y187N	probably benign	Het
Map3k1	C	A	13: 111,904,645 (GRCm39)	V380F	probably damaging	Het
Mapk11	T	C	15: 89,028,511 (GRCm39)	D283G	probably damaging	Het
Mccc2	G	T	13: 100,091,207 (GRCm39)	A430D	probably damaging	Het
Mest	A	G	6: 30,747,158 (GRCm39)	N340S	unknown	Het
Mms22l	T	C	4: 24,517,139 (GRCm39)	L340P	probably benign	Het
Mrnip	A	G	11: 50,087,808 (GRCm39)	Y110C	possibly damaging	Het
Mtmr4	A	G	11: 87,502,063 (GRCm39)	T706A	probably benign	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Ncstn	A	G	1: 171,900,373 (GRCm39)	F234S	probably benign	Het
Nrp1	T	C	8: 129,202,777 (GRCm39)		probably null	Het
Nup37	T	G	10: 88,010,356 (GRCm39)	C217G	probably damaging	Het
Or8g22	A	G	9: 38,958,694 (GRCm39)	L7P	unknown	Het
Pdzrn3	T	C	6: 101,128,206 (GRCm39)	N820S	probably benign	Het
Pgap1	A	T	1: 54,587,225 (GRCm39)	F117Y	possibly damaging	Het
Phip	A	T	9: 82,753,346 (GRCm39)	F1799L	possibly damaging	Het
Ppm1f	T	A	16: 16,728,819 (GRCm39)	F74I	probably benign	Het
Prpf8	C	A	11: 75,384,783 (GRCm39)	N775K	possibly damaging	Het
Ptdss2	T	C	7: 140,731,693 (GRCm39)	I167T	possibly damaging	Het
Rbl2	C	A	8: 91,841,669 (GRCm39)	A955D	probably benign	Het
Rgl1	A	G	1: 152,420,146 (GRCm39)	S366P	possibly damaging	Het
Rit2	A	T	18: 31,376,221 (GRCm39)	M38K	possibly damaging	Het
Robo1	A	G	16: 72,801,408 (GRCm39)	M1011V	probably benign	Het
Senp6	A	T	9: 80,043,797 (GRCm39)	E809D	probably benign	Het
Stard3	G	A	11: 98,269,045 (GRCm39)		probably null	Het
Taar3	T	G	10: 23,826,298 (GRCm39)	Y281*	probably null	Het
Tacc2	G	T	7: 130,331,103 (GRCm39)	K352N	probably benign	Het
Tamalin	G	A	15: 101,129,419 (GRCm39)	S234N	probably damaging	Het
Tasor	T	A	14: 27,160,610 (GRCm39)	I124N	probably damaging	Het
Tdpoz4	G	A	3: 93,704,155 (GRCm39)	V151I	not run	Het
Tenm2	A	G	11: 35,914,298 (GRCm39)	L2413P	probably damaging	Het
Tgm6	T	C	2: 129,983,110 (GRCm39)	V233A	probably damaging	Het
Tlx3	G	A	11: 33,153,514 (GRCm39)		probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Trim23	C	A	13: 104,323,941 (GRCm39)	H133Q	probably damaging	Het
Unc80	A	T	1: 66,640,356 (GRCm39)	D1421V	probably damaging	Het
Vmn1r172	A	G	7: 23,360,048 (GRCm39)	N311S	unknown	Het
Vps25	T	A	11: 101,149,775 (GRCm39)	L153Q	probably damaging	Het
Wbp1l	G	T	19: 46,611,876 (GRCm39)		probably benign	Het
Ythdc2	A	G	18: 44,970,558 (GRCm39)	I291V	possibly damaging	Het
Zfp2	A	G	11: 50,791,570 (GRCm39)	C158R	probably damaging	Het
Zfp786	G	A	6: 47,796,929 (GRCm39)	P670S	probably damaging	Het
Zfp827	G	A	8: 79,916,442 (GRCm39)	R339H	possibly damaging	Het
Zmym6	C	T	4: 127,017,294 (GRCm39)	A1025V	possibly damaging	Het

Other mutations in Ptpn18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Ptpn18	APN	1	34,502,200 (GRCm39)	missense	probably damaging	0.98
IGL01611:Ptpn18	APN	1	34,498,898 (GRCm39)	utr 5 prime	probably benign
IGL01633:Ptpn18	APN	1	34,510,989 (GRCm39)	missense	probably benign	0.03
IGL03379:Ptpn18	APN	1	34,509,338 (GRCm39)	splice site	probably null
R0848:Ptpn18	UTSW	1	34,501,783 (GRCm39)	missense	probably damaging	1.00
R1400:Ptpn18	UTSW	1	34,502,587 (GRCm39)	critical splice donor site	probably null
R1973:Ptpn18	UTSW	1	34,502,190 (GRCm39)	missense	probably damaging	1.00
R2040:Ptpn18	UTSW	1	34,509,300 (GRCm39)	missense	probably damaging	0.99
R2113:Ptpn18	UTSW	1	34,510,742 (GRCm39)	missense	probably damaging	1.00
R2963:Ptpn18	UTSW	1	34,510,773 (GRCm39)	nonsense	probably null
R4061:Ptpn18	UTSW	1	34,512,011 (GRCm39)	missense	possibly damaging	0.66
R4062:Ptpn18	UTSW	1	34,512,011 (GRCm39)	missense	possibly damaging	0.66
R4509:Ptpn18	UTSW	1	34,501,823 (GRCm39)	missense	possibly damaging	0.49
R4522:Ptpn18	UTSW	1	34,512,041 (GRCm39)	missense	probably benign
R4626:Ptpn18	UTSW	1	34,510,873 (GRCm39)	splice site	probably null
R4978:Ptpn18	UTSW	1	34,508,894 (GRCm39)	intron	probably benign
R5260:Ptpn18	UTSW	1	34,502,591 (GRCm39)	splice site	probably benign
R5335:Ptpn18	UTSW	1	34,502,259 (GRCm39)	missense	probably damaging	1.00
R5481:Ptpn18	UTSW	1	34,510,744 (GRCm39)	missense	possibly damaging	0.67
R5865:Ptpn18	UTSW	1	34,510,644 (GRCm39)	splice site	probably benign
R7038:Ptpn18	UTSW	1	34,498,906 (GRCm39)	start codon destroyed	probably null	1.00
R7225:Ptpn18	UTSW	1	34,511,927 (GRCm39)	missense	possibly damaging	0.58
R7411:Ptpn18	UTSW	1	34,511,273 (GRCm39)	critical splice donor site	probably null
R7434:Ptpn18	UTSW	1	34,512,445 (GRCm39)	missense	possibly damaging	0.75
R7441:Ptpn18	UTSW	1	34,512,416 (GRCm39)	missense	probably benign	0.00
R7442:Ptpn18	UTSW	1	34,501,831 (GRCm39)	missense	probably benign	0.02
R7462:Ptpn18	UTSW	1	34,512,445 (GRCm39)	missense	possibly damaging	0.75
R7463:Ptpn18	UTSW	1	34,512,445 (GRCm39)	missense	possibly damaging	0.75
R7464:Ptpn18	UTSW	1	34,512,445 (GRCm39)	missense	possibly damaging	0.75
R7465:Ptpn18	UTSW	1	34,512,445 (GRCm39)	missense	possibly damaging	0.75
R7535:Ptpn18	UTSW	1	34,512,445 (GRCm39)	missense	possibly damaging	0.75
R7537:Ptpn18	UTSW	1	34,512,445 (GRCm39)	missense	possibly damaging	0.75
R7678:Ptpn18	UTSW	1	34,512,445 (GRCm39)	missense	possibly damaging	0.75
R7689:Ptpn18	UTSW	1	34,512,445 (GRCm39)	missense	possibly damaging	0.75
R7899:Ptpn18	UTSW	1	34,508,986 (GRCm39)	splice site	probably null
R8543:Ptpn18	UTSW	1	34,511,229 (GRCm39)	missense	probably benign	0.00
R8821:Ptpn18	UTSW	1	34,511,271 (GRCm39)	missense	probably null	1.00
R8831:Ptpn18	UTSW	1	34,511,271 (GRCm39)	missense	probably null	1.00
R8858:Ptpn18	UTSW	1	34,502,196 (GRCm39)	missense	possibly damaging	0.88
R8879:Ptpn18	UTSW	1	34,502,211 (GRCm39)	missense	probably benign	0.23
R8924:Ptpn18	UTSW	1	34,498,966 (GRCm39)	missense	probably benign	0.02
R9657:Ptpn18	UTSW	1	34,512,473 (GRCm39)	missense	possibly damaging	0.87
X0065:Ptpn18	UTSW	1	34,508,972 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCACTGGGCCTGACTTTC -3'
(R):5'- GCTTCAGGGAGTAATGCAGC -3'

Sequencing Primer
(F):5'- GGGCCTGACTTTCACCTG -3'
(R):5'- TTCAGGGAGTAATGCAGCTACCTC -3'

Posted On

2019-06-26