Mutagenetix > Incidental Mutation

Incidental Mutation 'R7442:Ptpn18'

576987

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 #

R7442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34459762-34475733 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34462750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 48 (T48A)

Ref Sequence

ENSEMBL: ENSMUSP00000027302 (fasta)

Gene Model

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

AlphaFold

Q61152

Predicted Effect

probably benign
Transcript: ENSMUST00000027302
AA Change: T48A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126
AA Change: T48A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190122
AA Change: T24A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000139885
Gene: ENSMUSG00000026126
AA Change: T24A

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: 99.0%

Validation Efficiency

100% (76/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,220,290	I109T	probably damaging	Het
A430033K04Rik	T	C	5: 138,647,247	S465P	possibly damaging	Het
Acap3	T	C	4: 155,905,621	F753L	probably damaging	Het
Adam9	A	T	8: 24,967,207	V635E	probably damaging	Het
Adgre4	T	A	17: 55,852,340	V675E	probably benign	Het
Anapc4	T	C	5: 52,857,201	Y469H	probably benign	Het
Ankdd1b	T	G	13: 96,424,760	K325N	possibly damaging	Het
Aox1	T	C	1: 58,082,013	V881A	probably damaging	Het
Arhgap5	A	G	12: 52,516,956	T237A	probably benign	Het
Asah1	T	C	8: 41,343,565	D331G	possibly damaging	Het
Atp5a1	G	A	18: 77,779,120	R231H	probably benign	Het
Bod1l	G	A	5: 41,807,179	P2694L	probably damaging	Het
Bst1	T	C	5: 43,821,742	S143P	probably benign	Het
Cacna1b	A	C	2: 24,607,501	S2132A	probably benign	Het
Caps2	G	T	10: 112,208,354	R486L	probably damaging	Het
Cd68	T	C	11: 69,665,928	T18A	probably benign	Het
Cdk8	T	C	5: 146,292,769		probably null	Het
Col18a1	A	T	10: 77,096,238	I127N	unknown	Het
Dsc3	T	C	18: 19,981,156	D347G	probably damaging	Het
Dusp27	T	C	1: 166,101,015	K343E	probably benign	Het
Dyrk2	T	C	10: 118,859,881	S491G	probably damaging	Het
Edem1	T	A	6: 108,851,305	Y530*	probably null	Het
Enc1	A	T	13: 97,246,740	H586L	probably benign	Het
Ephb6	T	G	6: 41,618,047		probably null	Het
Etv5	G	T	16: 22,436,059	Q48K	probably damaging	Het
Exoc3l	A	G	8: 105,292,926	W404R	probably damaging	Het
Fbn1	C	A	2: 125,403,212	A252S	possibly damaging	Het
Foxe3	A	G	4: 114,925,293	S241P	unknown	Het
Gm49380	T	A	9: 44,112,412	M180L	probably benign	Het
Gm8251	A	G	1: 44,058,708	S1077P	possibly damaging	Het
Hoxd1	A	T	2: 74,763,559	D153V	probably damaging	Het
Ifi207	C	T	1: 173,727,431	S895N	probably benign	Het
Igf1r	G	A	7: 68,173,278	V385M	probably damaging	Het
Ints9	C	T	14: 64,995,064	Q191*	probably null	Het
Ktn1	A	G	14: 47,714,640	E979G	probably benign	Het
Lama3	G	A	18: 12,472,181		probably null	Het
Lrtm2	C	T	6: 119,317,431	M246I	probably damaging	Het
Mdm1	T	C	10: 118,146,685	V75A	probably benign	Het
Mia3	T	C	1: 183,358,876	E165G	probably benign	Het
Mrps21	T	C	3: 95,862,816	E67G	probably damaging	Het
Mybpc1	A	C	10: 88,526,293	I995S	probably damaging	Het
Mylk2	T	G	2: 152,911,426		probably benign	Het
Myo16	G	A	8: 10,272,537	C11Y	probably damaging	Het
Nudt18	A	C	14: 70,579,358	D134A	probably benign	Het
Obox1	G	T	7: 15,555,566	K93N	probably benign	Het
Olfr1019	A	T	2: 85,841,752	V13D	probably benign	Het
Olfr102	T	A	17: 37,313,925	H153L	possibly damaging	Het
Olfr457	A	T	6: 42,471,500	M226K	probably benign	Het
Olfr684	T	C	7: 105,157,082	Y200C	probably damaging	Het
Pkd2l1	T	C	19: 44,157,229	H185R	probably benign	Het
Ptprd	A	T	4: 76,059,821	Y583*	probably null	Het
Ptprk	G	A	10: 28,574,819	G992D	probably damaging	Het
Setdb2	A	G	14: 59,419,251	F206L	probably damaging	Het
Slain1	A	G	14: 103,685,714	D247G	probably damaging	Het
Slc10a2	A	T	8: 5,089,086	V286E	possibly damaging	Het
Slc44a2	C	T	9: 21,345,523	T367I	probably damaging	Het
Slco4a1	T	C	2: 180,474,126	V685A	probably benign	Het
Srp54c	T	A	12: 55,255,562	Y333N	probably damaging	Het
Srrm2	T	C	17: 23,820,117	S1912P	unknown	Het
St7l	A	G	3: 104,889,329	T253A	possibly damaging	Het
Sun3	T	G	11: 9,031,445	Y53S	possibly damaging	Het
Tktl2	A	G	8: 66,512,909	N373S	possibly damaging	Het
Tmco3	T	A	8: 13,320,781	S648R	probably damaging	Het
Tmem178	T	A	17: 80,944,756	V23D	probably damaging	Het
Tmem229a	C	A	6: 24,955,690	G22W	probably damaging	Het
Top3a	C	T	11: 60,753,918	S320N	possibly damaging	Het
Treml1	C	A	17: 48,366,691	D243E	probably damaging	Het
Trim42	C	T	9: 97,362,945	V601M	probably damaging	Het
Ttn	A	G	2: 76,743,006	S25848P	probably damaging	Het
Vmn1r86	A	T	7: 13,102,056	F298I	possibly damaging	Het
Vmn2r96	T	C	17: 18,573,400	F2S	probably benign	Het
Xpc	A	G	6: 91,504,649	L230P	probably damaging	Het
Xpo4	A	G	14: 57,630,223	V189A	probably benign	Het
Zfhx3	A	G	8: 108,792,836	T197A	probably damaging	Het
Zswim1	A	G	2: 164,825,790	K321E	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
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'- GGATGTCTAAATCCCCTAGCAC -3'
(R):5'- TCAGGGAGTAATGCAGCTACCTC -3'

Sequencing Primer
(F):5'- GTCTAAATCCCCTAGCACTGGGC -3'
(R):5'- GCAATAGCATGCTTTGGGGAG -3'

Posted On

2019-10-07