Mutagenetix > Incidental Mutation

Incidental Mutation 'R7441:Ptpn18'

576930

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 #

R7441 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34459762-34475733 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34473335 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 407 (V407A)

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: V407A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126
AA Change: V407A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188972
AA Change: V58A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

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: 99.7%
20x: 99.0%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
4921509C19Rik	A	C	2: 151,472,925	S278A	possibly damaging	Het
Adamts20	T	C	15: 94,353,673	D411G	probably damaging	Het
Adgrl3	A	G	5: 81,724,140	I894V	possibly damaging	Het
Adprhl1	C	T	8: 13,223,069	V1230I	probably benign	Het
Agpat1	T	A	17: 34,610,909	Y77N	probably damaging	Het
Anpep	A	G	7: 79,827,644	V725A	possibly damaging	Het
Apc	T	A	18: 34,312,073	I674K	probably damaging	Het
Arhgef2	A	G	3: 88,643,955	R808G	probably damaging	Het
Asap1	A	G	15: 64,130,256	V402A	probably damaging	Het
Aspg	T	C	12: 112,124,821	V479A	possibly damaging	Het
B3galnt2	G	A	13: 13,994,485	V368M	probably benign	Het
Bahcc1	T	C	11: 120,286,306	S2007P	probably damaging	Het
Cyfip2	A	T	11: 46,196,427	I1212N	possibly damaging	Het
Dnajc16	A	T	4: 141,763,813	D675E	probably damaging	Het
Dram2	T	C	3: 106,555,187	F4L	probably damaging	Het
Dsp	A	G	13: 38,195,449	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,636,453	L2176R	probably damaging	Het
Efhb	A	T	17: 53,401,521	I707N	possibly damaging	Het
Eif2ak4	A	G	2: 118,471,896	T1555A	probably benign	Het
Erc1	G	A	6: 119,824,951	T35I	possibly damaging	Het
Esr2	C	A	12: 76,141,394	M363I	probably benign	Het
Etl4	A	T	2: 20,744,189	N446I	possibly damaging	Het
Evpl	T	A	11: 116,222,956	K1303*	probably null	Het
Fam129c	A	G	8: 71,600,164	D94G	probably benign	Het
Fam135b	A	T	15: 71,463,680	V555E	probably damaging	Het
Fam186b	A	G	15: 99,280,089	L452P	probably benign	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Gcc2	A	G	10: 58,256,901	T48A	probably benign	Het
Gm12169	G	A	11: 46,528,555	W66*	probably null	Het
Gm6619	T	G	6: 131,490,391	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,722,940	D116V	probably damaging	Het
Gtf3c3	G	A	1: 54,420,448	T385M	probably benign	Het
Iqgap2	C	A	13: 95,628,076	M1553I	probably benign	Het
Kcnk1	G	T	8: 125,995,568	G37C	probably damaging	Het
Kifc3	T	C	8: 95,137,987	M32V	probably benign	Het
Krt81	C	A	15: 101,461,370	K222N	possibly damaging	Het
Lrrc63	A	G	14: 75,126,257	S145P	possibly damaging	Het
Mybbp1a	T	A	11: 72,451,275	V1279E	probably benign	Het
Olfr1044	T	A	2: 86,171,010	D269V	probably damaging	Het
Olfr742	A	T	14: 50,515,396	Y64F	probably damaging	Het
Pramef8	A	G	4: 143,418,840	Y293C	probably benign	Het
Ptpn9	T	A	9: 57,027,433	Y160*	probably null	Het
Ptprj	T	C	2: 90,449,819	K1045R	possibly damaging	Het
Rundc3a	G	T	11: 102,400,046		probably null	Het
Scn11a	C	T	9: 119,758,626	V1351I	probably benign	Het
Slc26a9	A	G	1: 131,762,818	Y520C	probably damaging	Het
Spata20	G	A	11: 94,484,041	A245V	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Swt1	A	T	1: 151,411,064	F226I	probably benign	Het
Taar7f	A	G	10: 24,049,987	T160A	possibly damaging	Het
Upf2	A	T	2: 6,018,932	I698F	unknown	Het
Vmn2r84	T	C	10: 130,392,113	T85A	possibly damaging	Het
Zfp426	T	C	9: 20,470,851	E280G	possibly damaging	Het
Zfp810	C	A	9: 22,279,272	E78*	probably null	Het
Zfp937	GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT	G	2: 150,238,710		probably null	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
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'- ACTGGGCTGTCTAACCCAAG -3'
(R):5'- GGCTCCATGCAGAAGCTAAG -3'

Sequencing Primer
(F):5'- GCTGTCTAACCCAAGGCCCC -3'
(R):5'- CACCGCTCCAGATCCAGGTATATG -3'

Posted On

2019-10-07