Mutagenetix > Incidental Mutation

Incidental Mutation 'R7689:Ptpn18'

593233

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

045753-MU

Accession Numbers

Essential gene?

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

Stock #

R7689 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34498843-34514814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34512445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 417 (D417N)

Ref Sequence

ENSEMBL: ENSMUSP00000027302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027302] [ENSMUST00000188972] [ENSMUST00000190122]

AlphaFold

Q61152

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027302
AA Change: D417N

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126
AA Change: D417N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188972
AA Change: D68N

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,029,440 (GRCm39)	F470Y	probably damaging	Het
Adra1a	T	C	14: 66,875,250 (GRCm39)	L75P	probably damaging	Het
Agap1	T	C	1: 89,762,188 (GRCm39)	S560P	probably damaging	Het
Ahcyl	T	C	16: 45,974,970 (GRCm39)	T136A	probably benign	Het
Arrdc4	T	A	7: 68,391,623 (GRCm39)	I215L	probably damaging	Het
Atad3a	C	T	4: 155,840,610 (GRCm39)	A97T	probably damaging	Het
Bcas3	A	T	11: 85,386,713 (GRCm39)	T383S	probably benign	Het
C2cd5	G	A	6: 142,995,951 (GRCm39)	R379*	probably null	Het
Cacna1e	G	T	1: 154,274,549 (GRCm39)	H2138N	probably benign	Het
Card14	A	T	11: 119,216,328 (GRCm39)	D303V	possibly damaging	Het
Ccdc202	T	C	14: 96,119,252 (GRCm39)	V3A	probably benign	Het
Cfhr1	T	C	1: 139,475,478 (GRCm39)	Y331C	unknown	Het
Chp1	G	A	2: 119,415,146 (GRCm39)	D183N	probably benign	Het
Cntn2	T	C	1: 132,443,882 (GRCm39)	T966A	probably benign	Het
Cpne9	T	G	6: 113,266,965 (GRCm39)	C133G	probably damaging	Het
Cspg4b	A	G	13: 113,515,948 (GRCm39)	T121A		Het
Cul7	C	T	17: 46,963,747 (GRCm39)	Q275*	probably null	Het
Cyp11b1	T	C	15: 74,710,897 (GRCm39)	D221G	probably benign	Het
Dmxl1	T	A	18: 49,979,685 (GRCm39)	F107I	probably benign	Het
Dnhd1	A	G	7: 105,363,170 (GRCm39)	I3911V	probably benign	Het
Eif1ad16	A	G	12: 87,985,259 (GRCm39)	Y95H	probably damaging	Het
Eloa	T	C	4: 135,736,595 (GRCm39)	H551R	probably benign	Het
Fam171b	T	A	2: 83,709,732 (GRCm39)	V468D	probably benign	Het
Fat2	A	G	11: 55,200,666 (GRCm39)	W803R	probably damaging	Het
Fbxo43	T	C	15: 36,163,201 (GRCm39)	D2G	probably benign	Het
Fbxo8	A	G	8: 57,041,120 (GRCm39)	T179A	probably benign	Het
Gdap1	A	G	1: 17,231,623 (GRCm39)	T323A	probably damaging	Het
Gm136	T	C	4: 34,743,875 (GRCm39)	N323S	probably null	Het
Gm6899	A	T	11: 26,543,819 (GRCm39)	T129S	unknown	Het
Gnb3	A	T	6: 124,814,183 (GRCm39)	C166S	possibly damaging	Het
Gpr61	A	G	3: 108,057,966 (GRCm39)	F232L	probably damaging	Het
Gpx8	T	C	13: 113,179,711 (GRCm39)	M197V	probably benign	Het
Gse1	G	T	8: 121,295,217 (GRCm39)	R446L	unknown	Het
Itch	A	T	2: 155,054,987 (GRCm39)	T764S	probably benign	Het
Itch	A	G	2: 155,051,922 (GRCm39)	K614E	probably damaging	Het
Itpkb	T	G	1: 180,241,544 (GRCm39)	M738R	probably damaging	Het
Jph1	T	A	1: 17,074,192 (GRCm39)	K609*	probably null	Het
Kcns1	G	A	2: 164,010,241 (GRCm39)	R173C	probably damaging	Het
Larp4b	C	T	13: 9,186,834 (GRCm39)	S54L	probably damaging	Het
Lonrf1	G	T	8: 36,715,918 (GRCm39)	S239*	probably null	Het
Lyst	T	G	13: 13,857,808 (GRCm39)		probably null	Het
Mccc1	T	A	3: 36,015,132 (GRCm39)	R663*	probably null	Het
Mcm3	A	G	1: 20,876,997 (GRCm39)	V646A	probably benign	Het
Mdn1	T	C	4: 32,739,912 (GRCm39)	L3722P	probably damaging	Het
Mmp27	T	G	9: 7,579,002 (GRCm39)	D392E	probably damaging	Het
Ms4a14	A	G	19: 11,279,906 (GRCm39)	I884T	probably benign	Het
Muc4	C	T	16: 32,574,439 (GRCm39)	T963I	probably benign	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Mucl3	C	A	17: 35,948,969 (GRCm39)	S210I	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Ndrg2	C	T	14: 52,147,812 (GRCm39)	A102T	possibly damaging	Het
Nhsl3	T	C	4: 129,117,566 (GRCm39)	N411S	probably benign	Het
Nos1	A	G	5: 118,035,792 (GRCm39)	D431G	probably damaging	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Otog	T	C	7: 45,901,480 (GRCm39)	L393P	probably damaging	Het
Plcl1	A	G	1: 55,736,627 (GRCm39)	N656S	probably damaging	Het
Pole3	C	A	4: 62,443,060 (GRCm39)	V27F	probably damaging	Het
Prrt4	T	A	6: 29,177,140 (GRCm39)	I210F	probably damaging	Het
Rbpms	A	T	8: 34,354,387 (GRCm39)	S53T	possibly damaging	Het
Rgs7	C	A	1: 174,949,296 (GRCm39)	V203L	probably benign	Het
Riok1	A	T	13: 38,229,263 (GRCm39)	D150V	probably damaging	Het
Rrp1b	T	C	17: 32,274,900 (GRCm39)	L335P	probably benign	Het
Rsph6a	T	G	7: 18,801,962 (GRCm39)	I592S	possibly damaging	Het
Skor1	C	T	9: 63,052,661 (GRCm39)	G436D	probably damaging	Het
Slc17a8	T	C	10: 89,433,319 (GRCm39)	T51A	possibly damaging	Het
Slc22a8	T	C	19: 8,585,248 (GRCm39)	S266P	probably damaging	Het
Socs2	A	G	10: 95,250,845 (GRCm39)		probably benign	Het
Tas2r106	A	G	6: 131,655,668 (GRCm39)	I61T	possibly damaging	Het
Tfap2a	T	C	13: 40,882,051 (GRCm39)	N77D	probably damaging	Het
Tmem236	T	A	2: 14,197,076 (GRCm39)	L88Q	probably damaging	Het
Ttc41	A	G	10: 86,595,088 (GRCm39)	E954G	probably damaging	Het
Vmn1r34	G	T	6: 66,613,994 (GRCm39)	S248*	probably null	Het
Wipf1	T	C	2: 73,262,789 (GRCm39)	R483G	probably damaging	Het
Zfhx4	A	G	3: 5,476,946 (GRCm39)	N3187S	probably benign	Het
Zfp202	C	A	9: 40,121,829 (GRCm39)	P309T	probably benign	Het
Zfp39	T	C	11: 58,781,469 (GRCm39)	H431R	probably damaging	Het
Zfp658	T	A	7: 43,224,102 (GRCm39)	H792Q	probably benign	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
R7290:Ptpn18	UTSW	1	34,501,892 (GRCm39)	critical splice donor site	probably null
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
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'- AGACCTCCGAACTTGGACAC -3'
(R):5'- TGCGCAAGTTGAAGCCTAAG -3'

Sequencing Primer
(F):5'- AACTTGGACACGCCCATGG -3'
(R):5'- GGCTCCATGCAGAAGCTAAG -3'

Posted On

2019-11-12