Mutagenetix > Incidental Mutation

Incidental Mutation 'R8821:Ptpn18'

673016

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

068654-MU

Accession Numbers

Essential gene?

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

Stock #

R8821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34498843-34514814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34511271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 338 (R338W)

Ref Sequence

ENSEMBL: ENSMUSP00000027302 (fasta)

Gene Model

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

AlphaFold

Q61152

Predicted Effect

probably null
Transcript: ENSMUST00000027302
AA Change: R338W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126
AA Change: R338W

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

Meta Mutation Damage Score

0.2151

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	T	8: 12,329,688 (GRCm39)	I48L	unknown	Het
Abca8a	A	T	11: 109,949,362 (GRCm39)	I927K	probably damaging	Het
Abcc3	A	C	11: 94,241,787 (GRCm39)	C1415G	probably damaging	Het
Abcf3	C	T	16: 20,369,214 (GRCm39)	R205C	probably damaging	Het
Aldh3a1	A	G	11: 61,107,142 (GRCm39)	Y282C	probably damaging	Het
Alyref	CCCGCGCGGCGGCCTGCACTGCGCCGCCGCGGCCGCCCTGGGAGCCGGCCCTGCCGCG	CCCGCG	11: 120,489,023 (GRCm39)		probably null	Het
Arfgef3	A	G	10: 18,528,491 (GRCm39)	S299P	possibly damaging	Het
Asic2	A	T	11: 81,858,726 (GRCm39)	N95K	probably damaging	Het
Atp2c2	A	G	8: 120,476,033 (GRCm39)		probably null	Het
Btbd18	A	G	2: 84,497,601 (GRCm39)	D413G	probably damaging	Het
C8b	A	G	4: 104,647,874 (GRCm39)	Y355C	probably damaging	Het
Carm1	A	G	9: 21,491,663 (GRCm39)	E244G	probably damaging	Het
Castor2	T	A	5: 134,164,092 (GRCm39)	V96E	possibly damaging	Het
Catsperg1	A	T	7: 28,904,361 (GRCm39)		probably benign	Het
Cish	T	A	9: 107,177,671 (GRCm39)	F116I	probably damaging	Het
Ckmt1	G	A	2: 121,191,302 (GRCm39)		probably benign	Het
Clasrp	C	T	7: 19,320,362 (GRCm39)	R432H	unknown	Het
Clstn1	G	A	4: 149,730,780 (GRCm39)	R837Q	probably benign	Het
Col27a1	A	G	4: 63,143,148 (GRCm39)	T279A	probably benign	Het
Cox10	A	G	11: 63,855,306 (GRCm39)	F325S	probably damaging	Het
Cpne5	T	C	17: 29,430,668 (GRCm39)	I81V	probably benign	Het
Ctps1	A	T	4: 120,424,507 (GRCm39)	S36T	possibly damaging	Het
Dchs2	T	C	3: 83,192,670 (GRCm39)	L1705P	probably benign	Het
Dcstamp	A	G	15: 39,618,185 (GRCm39)	H198R	probably benign	Het
Dhx58	T	A	11: 100,594,806 (GRCm39)	K30M	probably damaging	Het
Dnah1	C	T	14: 31,018,455 (GRCm39)	A1392T	probably benign	Het
Dnah14	C	A	1: 181,619,569 (GRCm39)	Y3964*	probably null	Het
Dnah8	T	C	17: 31,013,712 (GRCm39)	S3818P	probably damaging	Het
Dnmt3b	T	A	2: 153,518,734 (GRCm39)	N632K	probably benign	Het
Drc7	G	A	8: 95,788,845 (GRCm39)	R301Q	probably damaging	Het
Dsg1a	T	C	18: 20,453,365 (GRCm39)	V21A	probably damaging	Het
Dtd1	T	C	2: 144,459,261 (GRCm39)	L95P	probably benign	Het
Efhb	A	T	17: 53,707,772 (GRCm39)		probably benign	Het
Fam186b	T	A	15: 99,178,733 (GRCm39)	M198L	possibly damaging	Het
Fam193a	A	G	5: 34,616,374 (GRCm39)	T850A	probably benign	Het
Fan1	G	A	7: 64,004,249 (GRCm39)	P739L	probably damaging	Het
Flii	A	T	11: 60,616,074 (GRCm39)	N28K	probably benign	Het
Fmo3	T	C	1: 162,796,407 (GRCm39)	Y55C	probably damaging	Het
Gfi1	G	A	5: 107,868,138 (GRCm39)	R377C	probably damaging	Het
Gm9195	C	T	14: 72,717,536 (GRCm39)	E266K	possibly damaging	Het
Hdac1-ps	T	A	17: 78,799,969 (GRCm39)	L320Q	probably damaging	Het
Helz	A	T	11: 107,525,919 (GRCm39)	M825L	probably damaging	Het
Hsd3b9	A	T	3: 98,354,047 (GRCm39)	W151R	probably benign	Het
Ift80	G	A	3: 68,869,583 (GRCm39)	A236V	probably damaging	Het
Il1rn	A	T	2: 24,239,505 (GRCm39)	T134S	possibly damaging	Het
Imp4	T	C	1: 34,483,445 (GRCm39)	M257T	probably benign	Het
Impdh2	T	C	9: 108,441,957 (GRCm39)	L377S	probably damaging	Het
Kcnrg	T	C	14: 61,844,981 (GRCm39)	V7A	possibly damaging	Het
Kdm1b	C	A	13: 47,217,617 (GRCm39)	L359I	possibly damaging	Het
Lima1	T	A	15: 99,704,306 (GRCm39)	T288S	probably benign	Het
Lrrc37	A	T	11: 103,510,470 (GRCm39)	D499E	unknown	Het
Lrrc4c	A	T	2: 97,460,040 (GRCm39)	D222V	possibly damaging	Het
Mybpc3	T	A	2: 90,948,524 (GRCm39)	V4E	probably null	Het
Ncor1	A	T	11: 62,260,234 (GRCm39)	D505E	probably benign	Het
Nell1	A	G	7: 50,476,097 (GRCm39)	S579G	probably damaging	Het
Npc1	T	A	18: 12,333,877 (GRCm39)	M735L	probably benign	Het
Or1j13	G	A	2: 36,369,794 (GRCm39)	T116I	possibly damaging	Het
Or2at4	A	G	7: 99,384,893 (GRCm39)	H181R	possibly damaging	Het
Or4a73	A	G	2: 89,420,880 (GRCm39)	I193T	probably damaging	Het
Pcdhb12	A	G	18: 37,570,386 (GRCm39)	M511V	probably benign	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Phf3	T	A	1: 30,860,347 (GRCm39)	K828*	probably null	Het
Pih1d1	A	G	7: 44,806,196 (GRCm39)	D44G	possibly damaging	Het
Prag1	A	T	8: 36,613,891 (GRCm39)	T1148S	probably benign	Het
Slc7a6os	A	T	8: 106,937,189 (GRCm39)	D90E	probably benign	Het
Sp7	T	A	15: 102,267,227 (GRCm39)	H211L	possibly damaging	Het
Ssh3	A	G	19: 4,319,053 (GRCm39)	V19A	possibly damaging	Het
Tcp11l2	A	G	10: 84,449,522 (GRCm39)	I496V	probably damaging	Het
Tenm3	C	T	8: 48,729,417 (GRCm39)	A1530T		Het
Tmem232	A	G	17: 65,743,367 (GRCm39)	L308P	probably damaging	Het
Tulp4	A	G	17: 6,189,409 (GRCm39)	N77S	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Usp48	A	T	4: 137,341,080 (GRCm39)	D360V	probably damaging	Het
Vmn2r84	G	A	10: 130,226,968 (GRCm39)	A290V	probably benign	Het
Zfp1007	A	T	5: 109,824,174 (GRCm39)	S425R	probably benign	Het
Zfp512b	T	C	2: 181,228,525 (GRCm39)	N738S	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
R7689: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
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'- TGTTCCCTAAGCTCACCTAGG -3'
(R):5'- GTGGAAGGTAAGGACTCACATACTC -3'

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

Posted On

2021-04-30