Mutagenetix > Incidental Mutation

Incidental Mutation 'R2040:Ptpn18'

225469

Institutional Source

Beutler Lab

Gene Symbol

Ptpn18

Ensembl Gene

ENSMUSG00000026126

Gene Name

protein tyrosine phosphatase, non-receptor type 18

Synonyms

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

MMRRC Submission

040047-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R2040 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

34459762-34475733 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34470219 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 165 (Q165R)

Ref Sequence

ENSEMBL: ENSMUSP00000139885 (fasta)

Gene Model

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

AlphaFold

Q61152

Predicted Effect

probably damaging
Transcript: ENSMUST00000027302
AA Change: Q189R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126
AA Change: Q189R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186252

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188884

Predicted Effect

probably benign
Transcript: ENSMUST00000188972

Predicted Effect

probably damaging
Transcript: ENSMUST00000190122
AA Change: Q165R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139885
Gene: ENSMUSG00000026126
AA Change: Q165R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191357

Meta Mutation Damage Score

0.6635

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (67/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,545,741	I75L	probably benign	Het
Abca2	T	C	2: 25,443,805	L1755P	probably damaging	Het
Adam6b	A	T	12: 113,490,744	I394L	probably benign	Het
Ano2	T	A	6: 126,039,508	N1001K	probably benign	Het
Arap2	A	T	5: 62,748,916	N253K	probably damaging	Het
Ascc3	T	C	10: 50,728,131	C1316R	probably benign	Het
Atox1	T	C	11: 55,450,517	Y64C	probably benign	Het
Atp13a1	A	G	8: 69,807,052	T1098A	possibly damaging	Het
Casr	T	C	16: 36,510,366	E202G	possibly damaging	Het
Cct2	T	C	10: 117,053,113	T494A	probably benign	Het
Cd209e	T	A	8: 3,849,158	N185Y	probably damaging	Het
Celsr1	A	G	15: 86,032,887	L295P	probably damaging	Het
Cyp26a1	A	G	19: 37,698,051	T48A	possibly damaging	Het
Elovl3	A	G	19: 46,133,128	S37G	probably benign	Het
Fbxo18	T	G	2: 11,769,895	D13A	possibly damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334		probably null	Het
Frem3	G	T	8: 80,615,826	V1583L	possibly damaging	Het
Gm21863	C	A	12: 19,954,514	Q4K	possibly damaging	Het
Gm266	T	C	12: 111,485,698	T25A	possibly damaging	Het
Gm8674	T	C	13: 49,901,669		noncoding transcript	Het
Greb1	T	C	12: 16,702,650	H897R	probably damaging	Het
Hells	A	G	19: 38,955,030	D565G	probably damaging	Het
Hfm1	C	T	5: 106,901,818	V426I	probably damaging	Het
Ints6	G	A	14: 62,713,689	T297I	probably damaging	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Kmt2b	A	T	7: 30,569,420	M2628K	probably damaging	Het
Ktn1	T	G	14: 47,700,612		probably benign	Het
Lyst	T	A	13: 13,641,222	D1230E	probably benign	Het
Mboat1	T	C	13: 30,241,317		probably null	Het
Moxd2	T	C	6: 40,884,953		probably null	Het
Mtmr4	T	C	11: 87,605,090	M527T	probably damaging	Het
Myt1	T	A	2: 181,825,924	N1050K	probably damaging	Het
Ncoa6	A	T	2: 155,406,080	V1768E	probably damaging	Het
Nelfcd	G	A	2: 174,420,082	C48Y	probably damaging	Het
Olfr372	T	A	8: 72,057,763	F28I	possibly damaging	Het
Olfr535	T	C	7: 140,493,382	I248T	probably benign	Het
Opn3	G	A	1: 175,663,579	A296V	possibly damaging	Het
Pam	T	C	1: 97,864,442	E418G	possibly damaging	Het
Prrc2c	A	T	1: 162,697,557	N493K	probably damaging	Het
Ptpro	C	A	6: 137,386,164		probably benign	Het
Ralgapa1	A	G	12: 55,786,322	F132S	probably damaging	Het
Robo1	T	C	16: 72,933,742	C244R	probably damaging	Het
Robo3	A	C	9: 37,427,464	V316G	probably damaging	Het
Rsl1	T	C	13: 67,182,081	S198P	probably damaging	Het
Rsph9	T	C	17: 46,134,984	D220G	probably damaging	Het
Rxfp2	A	C	5: 150,070,212	I580L	probably benign	Het
Sept7	G	A	9: 25,288,236	A144T	possibly damaging	Het
Sfn	T	C	4: 133,601,292	K160E	probably benign	Het
Ski	A	G	4: 155,221,572	Y317H	probably damaging	Het
Slc22a22	A	T	15: 57,247,540	Y430*	probably null	Het
Src	A	G	2: 157,457,110	K9R	probably benign	Het
Srm	C	T	4: 148,593,996	P255L	possibly damaging	Het
Stpg4	T	A	17: 87,422,647	N90I	probably damaging	Het
Sytl2	T	A	7: 90,381,861		probably benign	Het
Tbpl2	T	C	2: 24,094,859	K92R	probably benign	Het
Tmem38a	T	A	8: 72,581,252	N178K	probably damaging	Het
Tmem56	G	T	3: 121,231,326		probably benign	Het
Tnfaip3	T	C	10: 19,008,152	D160G	possibly damaging	Het
Ttc37	A	C	13: 76,180,103	R1423S	probably damaging	Het
Vegfb	T	A	19: 6,986,039	H119L	possibly damaging	Het
Vmn2r111	T	A	17: 22,548,414	I701F	probably damaging	Het
Vmn2r95	C	T	17: 18,441,299	L436F	probably damaging	Het
Wdr47	T	C	3: 108,623,372	C394R	probably benign	Het
Ythdc2	T	A	18: 44,855,174	Y16*	probably null	Het
Zer1	G	A	2: 30,108,274	L342F	probably damaging	Het
Zfp353-ps	A	G	8: 42,082,296		noncoding transcript	Het

Other mutations in Ptpn18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Ptpn18	APN	1	34463119	missense	probably damaging	0.98
IGL01611:Ptpn18	APN	1	34459817	utr 5 prime	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGCACACAATGGACTTGCTTG -3'
(R):5'- GCTCCTAGCCACAACTGTTC -3'

Sequencing Primer
(F):5'- ACACAATGGACTTGCTTGTCTCTATG -3'
(R):5'- AGCCACAACTGTTCTCCCTTG -3'

Posted On

2014-08-25