Mutagenetix > Incidental Mutation

Incidental Mutation 'R8543:Ptpn18'

659448

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R8543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34459762-34475733 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34472148 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 324 (S324P)

Ref Sequence

ENSEMBL: ENSMUSP00000027302 (fasta)

Gene Model

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

AlphaFold

Q61152

Predicted Effect

probably benign
Transcript: ENSMUST00000027302
AA Change: S324P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126
AA Change: S324P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188972

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (47/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	T	A	17: 43,313,206	L839Q	probably null	Het
Ampd1	T	A	3: 103,079,170	F55Y	possibly damaging	Het
Ank3	A	G	10: 70,002,436	E891G	probably damaging	Het
Ankrd13c	A	G	3: 158,004,075		probably null	Het
Ankrd63	A	G	2: 118,703,123		probably benign	Het
Arhgap30	T	C	1: 171,404,962	S392P	probably damaging	Het
Arhgef11	A	T	3: 87,681,874	K16M	probably damaging	Het
Birc6	T	C	17: 74,565,865	V373A	probably damaging	Het
Blm	A	G	7: 80,494,216	M822T	probably damaging	Het
Car15	T	C	16: 17,836,849	N102D	probably benign	Het
Cdk14	A	T	5: 5,380,079	M16K	probably benign	Het
Cep350	A	G	1: 155,862,376	Y2574H	probably damaging	Het
Coro1a	C	A	7: 126,702,016	C104F	probably damaging	Het
D130043K22Rik	T	A	13: 24,889,869	L977Q	probably benign	Het
Dcaf1	T	G	9: 106,858,078	S742A	probably benign	Het
Dnajb11	A	T	16: 22,862,585	I38L	probably benign	Het
Eppk1	C	T	15: 76,110,119	R854Q	probably benign	Het
Fat4	A	C	3: 38,977,494	H2476P	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Gm14326	G	A	2: 177,945,659	R515W	probably damaging	Het
Gm49368	T	C	7: 128,080,261	Y192H	probably damaging	Het
Gm7579	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	7: 142,212,045		probably benign	Het
Gpr182	T	C	10: 127,750,992	H30R	probably benign	Het
Gprc5c	T	A	11: 114,864,268	V257E	probably damaging	Het
Iars2	T	C	1: 185,287,144	T982A	probably benign	Het
Ighg2b	C	A	12: 113,306,932	A193S	probably damaging	Het
Izumo1	T	A	7: 45,626,254	V329E	possibly damaging	Het
Kcnj6	A	T	16: 94,762,391	V398E	possibly damaging	Het
Lef1	T	A	3: 131,115,489	N117K	possibly damaging	Het
Ltbp4	T	C	7: 27,325,241	S655G	possibly damaging	Het
Magi3	A	T	3: 104,219,668	I100N	probably damaging	Het
Mettl17	G	A	14: 51,888,800	A222T	probably benign	Het
Notch4	A	G	17: 34,568,420	E318G	probably damaging	Het
Nqo2	A	T	13: 33,985,314		probably null	Het
Olfr1077-ps1	A	T	2: 86,526,042	M45K	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rin1	A	G	19: 5,052,072	D203G	probably damaging	Het
Serpinb9c	T	A	13: 33,156,434	E128V	probably damaging	Het
Slc3a1	C	A	17: 85,028,497	N22K	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Tmco4	G	T	4: 139,053,940	V472L	probably benign	Het
Tmem132d	T	C	5: 128,268,735	E241G	probably benign	Het
Trim17	T	A	11: 58,971,455	S438T	probably damaging	Het
Trmt44	T	C	5: 35,575,030	R6G	probably benign	Het
Vcl	G	T	14: 20,995,059	L277F	probably benign	Het
Vmn2r68	C	T	7: 85,234,440	M152I	probably benign	Het
Vmn2r94	C	T	17: 18,243,722	V769I	possibly damaging	Het
Vps13d	G	T	4: 145,016,783	S3027*	probably null	Het
Zfp282	A	G	6: 47,904,627	Q416R	probably benign	Het
Zfp668	A	G	7: 127,867,220	L264P	probably damaging	Het
Zfp747	A	G	7: 127,374,483	Y172H	probably damaging	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
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
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'- CAACCGACTTACTGTGAAAGGC -3'
(R):5'- CACGTGGAAGGTAAGGACTCAC -3'

Sequencing Primer
(F):5'- GCACCTTTGCCTCCTCAGAG -3'
(R):5'- AGGTAAGGACTCACATACTCTTTCTC -3'

Posted On

2021-01-18