Mutagenetix > Incidental Mutation

Incidental Mutation 'R8924:Ptpn18'

679425

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

068769-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R8924 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34498843-34514814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34498966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 21 (R21L)

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: R21L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000027302
Gene: ENSMUSG00000026126
AA Change: R21L

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

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (88/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,838,003 (GRCm39)	V1145A	probably benign	Het
Ank1	T	C	8: 23,589,011 (GRCm39)	M562T	probably benign	Het
Atn1	A	T	6: 124,722,211 (GRCm39)	S881T	probably benign	Het
B3galt1	C	T	2: 67,949,059 (GRCm39)	T258I	probably benign	Het
Bahcc1	C	T	11: 120,167,591 (GRCm39)	L1331F	probably benign	Het
Capn12	G	A	7: 28,582,628 (GRCm39)	V168M	probably damaging	Het
Card14	T	C	11: 119,216,930 (GRCm39)	V338A	possibly damaging	Het
Cd27	T	C	6: 125,213,432 (GRCm39)		probably benign	Het
Cd37	A	G	7: 44,888,109 (GRCm39)	L37P	probably damaging	Het
Cd96	A	G	16: 45,919,385 (GRCm39)	L212P	probably damaging	Het
Celsr1	T	C	15: 85,916,671 (GRCm39)	E434G	possibly damaging	Het
Cep152	A	G	2: 125,444,778 (GRCm39)	M456T	possibly damaging	Het
Ces3b	G	A	8: 105,811,619 (GRCm39)	R45H	probably benign	Het
Cfap54	T	G	10: 92,837,685 (GRCm39)	T1072P	probably damaging	Het
Chodl	A	T	16: 78,738,659 (GRCm39)	M172L	possibly damaging	Het
Cilp2	A	G	8: 70,339,108 (GRCm39)	S47P	probably damaging	Het
Clasrp	T	C	7: 19,318,232 (GRCm39)	I596V	unknown	Het
Clcn2	C	T	16: 20,530,930 (GRCm39)	V267I	probably damaging	Het
Cntln	T	A	4: 84,806,936 (GRCm39)	D139E	probably damaging	Het
Cyp2j12	A	C	4: 95,994,685 (GRCm39)	N379K	probably damaging	Het
Defb21	T	C	2: 152,416,704 (GRCm39)	V60A	possibly damaging	Het
Dnajc16	G	T	4: 141,494,018 (GRCm39)	S543*	probably null	Het
Efcab12	G	T	6: 115,800,664 (GRCm39)	H120N	probably benign	Het
Efcab3	AACTCTA	AA	11: 104,806,253 (GRCm39)		probably null	Het
Efl1	G	A	7: 82,412,161 (GRCm39)	G850D	probably benign	Het
Efna1	T	C	3: 89,183,635 (GRCm39)	M64V	probably benign	Het
Eif2ak3	T	C	6: 70,870,003 (GRCm39)	W897R	probably damaging	Het
Eif2ak4	T	A	2: 118,258,513 (GRCm39)	F621Y	probably damaging	Het
Erbin	C	A	13: 103,975,966 (GRCm39)	E643*	probably null	Het
Esr1	G	A	10: 4,807,176 (GRCm39)	W364*	probably null	Het
Fam171a2	T	C	11: 102,330,861 (GRCm39)	E206G	possibly damaging	Het
Fam90a1a	T	C	8: 22,451,429 (GRCm39)	F97L	probably benign	Het
Fap	A	T	2: 62,378,165 (GRCm39)	F181I	probably benign	Het
Fem1b	T	C	9: 62,704,916 (GRCm39)	N115D	probably damaging	Het
Gal3st2b	G	T	1: 93,868,653 (GRCm39)	A295S	probably benign	Het
Galnt10	G	A	11: 57,674,681 (GRCm39)		probably benign	Het
Gcfc2	T	C	6: 81,909,879 (GRCm39)	V224A	probably damaging	Het
Gh	T	C	11: 106,191,634 (GRCm39)	E136G	probably damaging	Het
Gjd3	C	T	11: 98,873,325 (GRCm39)	C173Y	probably damaging	Het
Gm12695	T	A	4: 96,651,046 (GRCm39)	M136L	probably benign	Het
Gnas	A	G	2: 174,141,277 (GRCm39)	E482G	unknown	Het
Gpa33	T	C	1: 165,980,351 (GRCm39)	L138P	probably damaging	Het
Hlf	T	C	11: 90,236,714 (GRCm39)	D181G	probably damaging	Het
Irgm1	A	G	11: 48,756,698 (GRCm39)	L387S	probably benign	Het
Kctd1	T	C	18: 15,102,745 (GRCm39)	E812G	possibly damaging	Het
Klra2	T	C	6: 131,205,214 (GRCm39)	E209G	probably benign	Het
Klra3	C	T	6: 130,312,732 (GRCm39)	V11M	probably benign	Het
Klrh1	G	T	6: 129,745,084 (GRCm39)	H171N	probably benign	Het
Kmt2c	T	C	5: 25,503,885 (GRCm39)	S3808G	probably benign	Het
Krtap24-1	A	C	16: 88,408,888 (GRCm39)	S79R	probably benign	Het
Limch1	T	A	5: 67,190,475 (GRCm39)	H759Q	probably benign	Het
Map3k4	A	G	17: 12,490,433 (GRCm39)	Y333H	probably benign	Het
Mmel1	A	G	4: 154,974,091 (GRCm39)	Y377C	probably damaging	Het
Ms4a14	A	T	19: 11,281,113 (GRCm39)	Y482N	possibly damaging	Het
Myo9b	A	G	8: 71,801,675 (GRCm39)	S1277G	probably benign	Het
Nab1	T	C	1: 52,529,667 (GRCm39)	T77A	possibly damaging	Het
Obsl1	T	C	1: 75,482,841 (GRCm39)	S10G	probably benign	Het
Odc1	A	G	12: 17,598,329 (GRCm39)	T157A	possibly damaging	Het
Or2a5	T	G	6: 42,873,964 (GRCm39)	L193R	probably damaging	Het
Or8b52	T	C	9: 38,576,780 (GRCm39)	D120G	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Plpp1	T	A	13: 112,943,057 (GRCm39)		probably benign	Het
Prdm13	G	A	4: 21,679,125 (GRCm39)	A455V	possibly damaging	Het
Ptpn13	A	T	5: 103,739,101 (GRCm39)	Y2289F	probably damaging	Het
Ptprd	A	G	4: 75,916,736 (GRCm39)		probably null	Het
Rcn3	G	T	7: 44,733,095 (GRCm39)	D258E	probably damaging	Het
Ro60	C	T	1: 143,641,170 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,429,895 (GRCm39)	H651Q	probably benign	Het
Sacs	T	C	14: 61,448,702 (GRCm39)	S3583P	probably damaging	Het
Scel	A	G	14: 103,829,807 (GRCm39)	N463S	possibly damaging	Het
Serpinb2	A	T	1: 107,443,284 (GRCm39)	I28F	possibly damaging	Het
Sin3b	A	G	8: 73,473,131 (GRCm39)	K484E	probably benign	Het
Snrnp48	T	A	13: 38,400,397 (GRCm39)	V168D	probably damaging	Het
Snx18	T	G	13: 113,754,931 (GRCm39)	M1L	probably benign	Het
Spata31h1	T	C	10: 82,131,295 (GRCm39)	N572D	probably benign	Het
Srcap	T	A	7: 127,158,204 (GRCm39)	N2693K	unknown	Het
Stim1	A	G	7: 102,078,014 (GRCm39)	D172G		Het
Stip1	A	T	19: 7,002,687 (GRCm39)	L414H	probably damaging	Het
Sun1	A	G	5: 139,209,390 (GRCm39)	H40R	probably damaging	Het
Sva	T	A	6: 42,019,182 (GRCm39)	D117E	possibly damaging	Het
Syne2	A	G	12: 75,943,444 (GRCm39)	D321G	probably damaging	Het
Trim45	A	G	3: 100,835,394 (GRCm39)	D459G	probably damaging	Het
Ttc6	G	A	12: 57,697,790 (GRCm39)	W43*	probably null	Het
Ugt2b35	A	G	5: 87,152,780 (GRCm39)	T317A	possibly damaging	Het
Usp32	C	T	11: 84,916,370 (GRCm39)	R858Q	probably damaging	Het
Vmn2r53	G	T	7: 12,334,752 (GRCm39)	Q303K	probably benign	Het
Yeats2	T	C	16: 19,969,312 (GRCm39)		probably null	Het
Zfp804a	A	G	2: 82,088,747 (GRCm39)	N859D	probably benign	Het
Zscan10	A	T	17: 23,824,580 (GRCm39)	Q12L	possibly damaging	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
R8821:Ptpn18	UTSW	1	34,511,271 (GRCm39)	missense	probably null	1.00
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
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'- CAATTACCGGTCTTCATTGGC -3'
(R):5'- TAAACAGTAGCCGTCTTCACC -3'

Sequencing Primer
(F):5'- TACCGGTCTTCATTGGCTGCTG -3'
(R):5'- ACCTGTGGGCAAAGTGC -3'

Posted On

2021-08-02