Mutagenetix > Incidental Mutation

Incidental Mutation 'R3755:Ptpn1'

271375

Institutional Source

Beutler Lab

Gene Symbol

Ptpn1

Ensembl Gene

ENSMUSG00000027540

Gene Name

protein tyrosine phosphatase, non-receptor type 1

Synonyms

PTP1B, PTP-1B

MMRRC Submission

040738-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R3755 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

167773977-167821305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 167816143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 219 (I219T)

Ref Sequence

ENSEMBL: ENSMUSP00000029053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029053]

AlphaFold

P35821

Predicted Effect

probably damaging
Transcript: ENSMUST00000029053
AA Change: I219T

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

SMART Domains

Protein: ENSMUSP00000029053
Gene: ENSMUSG00000027540
AA Change: I219T

Domain	Start	End	E-Value	Type
PTPc	15	279	1.35e-123	SMART
low complexity region	301	320	N/A	INTRINSIC
low complexity region	354	364	N/A	INTRINSIC
low complexity region	387	397	N/A	INTRINSIC
transmembrane domain	409	431	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147210

Meta Mutation Damage Score

0.5177

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

96% (50/52)

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 the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit greatly reduced adiposity due to reduced fat cell mass, increased basal metabolic rate, mild hypoglycemia and hypoinsulinemia, increased insulin sensitivity, and enhanced sensitivity to leptin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	C	A	10: 29,098,110 (GRCm39)	S169Y	probably damaging	Het
Abcb1a	G	A	5: 8,797,403 (GRCm39)	V1225M	possibly damaging	Het
Adamdec1	A	T	14: 68,814,587 (GRCm39)	I130N	probably damaging	Het
Atf7ip	T	A	6: 136,537,815 (GRCm39)	N357K	probably benign	Het
Bace2	C	G	16: 97,237,857 (GRCm39)	T436R	probably benign	Het
Capn13	G	A	17: 73,638,114 (GRCm39)	Q430*	probably null	Het
Ccdc30	A	T	4: 119,225,005 (GRCm39)		probably null	Het
Ces5a	T	C	8: 94,255,130 (GRCm39)	T184A	probably benign	Het
Cntnap5c	T	C	17: 58,411,594 (GRCm39)	C493R	possibly damaging	Het
Creb3l2	A	T	6: 37,340,961 (GRCm39)	I146N	possibly damaging	Het
Erich3	A	G	3: 154,469,958 (GRCm39)		probably benign	Het
Etl4	G	A	2: 20,748,348 (GRCm39)	V27I	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fsip2	G	A	2: 82,808,561 (GRCm39)	D1627N	probably benign	Het
Gcdh	A	G	8: 85,620,109 (GRCm39)		probably benign	Het
Kcna7	T	C	7: 45,058,369 (GRCm39)	F219L	probably benign	Het
Kdm3b	T	C	18: 34,941,349 (GRCm39)	L280S	probably benign	Het
Knl1	T	A	2: 118,933,060 (GRCm39)	V2073D	probably damaging	Het
Kprp	A	G	3: 92,732,346 (GRCm39)	S235P	unknown	Het
Lpp	A	G	16: 24,663,911 (GRCm39)	H396R	probably benign	Het
Lrch4	T	A	5: 137,635,992 (GRCm39)	D348E	probably damaging	Het
Mcm9	T	C	10: 53,502,048 (GRCm39)	N179S	probably benign	Het
Mettl13	T	C	1: 162,371,789 (GRCm39)	E360G	probably damaging	Het
Nfib	A	T	4: 82,241,936 (GRCm39)	S418R	probably damaging	Het
Or52b1	A	G	7: 104,979,358 (GRCm39)	F14L	probably damaging	Het
Or8s2	A	C	15: 98,276,463 (GRCm39)	I176S	probably benign	Het
Pcdha8	G	A	18: 37,126,741 (GRCm39)	V408M	probably damaging	Het
Pcdhb3	T	C	18: 37,435,878 (GRCm39)	F615L	probably damaging	Het
Pkd1l3	C	T	8: 110,359,171 (GRCm39)	T844I	probably damaging	Het
Pkhd1l1	A	T	15: 44,452,802 (GRCm39)	E3909V	probably damaging	Het
Poldip3	A	G	15: 83,015,676 (GRCm39)		probably benign	Het
Rad18	T	C	6: 112,670,432 (GRCm39)	N44S	probably damaging	Het
Reep5	T	C	18: 34,505,527 (GRCm39)	Y48C	probably damaging	Het
Rgl2	C	A	17: 34,151,571 (GRCm39)	A205D	probably benign	Het
Rundc3a	A	G	11: 102,290,085 (GRCm39)	I175V	possibly damaging	Het
Slamf1	C	T	1: 171,604,728 (GRCm39)	A166V	probably damaging	Het
Slc4a5	A	G	6: 83,265,285 (GRCm39)	D693G	probably benign	Het
Snap23	T	A	2: 120,416,726 (GRCm39)	C79S	probably damaging	Het
Spag6l	A	C	16: 16,580,884 (GRCm39)		probably null	Het
Trappc13	C	T	13: 104,305,068 (GRCm39)	D40N	probably benign	Het
Trav4-3	C	A	14: 53,836,596 (GRCm39)	S20R	probably benign	Het
Tssk2	G	A	16: 17,716,827 (GRCm39)	E77K	probably damaging	Het
Ubap2	A	G	4: 41,195,482 (GRCm39)	F1051S	probably damaging	Het
Ugt3a1	A	G	15: 9,367,498 (GRCm39)	T414A	probably benign	Het
Urod	C	T	4: 116,850,601 (GRCm39)	C66Y	probably damaging	Het
Vmn1r234	A	G	17: 21,449,271 (GRCm39)	K62E	probably damaging	Het
Wiz	A	G	17: 32,578,106 (GRCm39)	S460P	probably damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zbtb7a	C	T	10: 80,980,100 (GRCm39)	T98M	probably damaging	Het
Zfp524	C	A	7: 5,020,884 (GRCm39)	H137Q	probably damaging	Het

Other mutations in Ptpn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01482:Ptpn1	APN	2	167,809,712 (GRCm39)	missense	probably damaging	1.00
IGL02976:Ptpn1	APN	2	167,813,704 (GRCm39)	missense	probably benign	0.01
escondido	UTSW	2	167,816,161 (GRCm39)	missense	probably damaging	1.00
R0106:Ptpn1	UTSW	2	167,818,338 (GRCm39)	unclassified	probably benign
R0106:Ptpn1	UTSW	2	167,818,338 (GRCm39)	unclassified	probably benign
R1438:Ptpn1	UTSW	2	167,818,529 (GRCm39)	missense	probably damaging	0.99
R3010:Ptpn1	UTSW	2	167,816,742 (GRCm39)	missense	probably damaging	1.00
R3607:Ptpn1	UTSW	2	167,817,427 (GRCm39)	missense	probably benign
R4075:Ptpn1	UTSW	2	167,818,433 (GRCm39)	splice site	probably null
R4160:Ptpn1	UTSW	2	167,809,731 (GRCm39)	missense	probably benign	0.04
R4627:Ptpn1	UTSW	2	167,809,701 (GRCm39)	missense	probably benign	0.00
R4754:Ptpn1	UTSW	2	167,816,080 (GRCm39)	missense	probably damaging	1.00
R5596:Ptpn1	UTSW	2	167,816,683 (GRCm39)	missense	probably damaging	1.00
R5920:Ptpn1	UTSW	2	167,813,668 (GRCm39)	missense	probably benign	0.02
R6133:Ptpn1	UTSW	2	167,809,716 (GRCm39)	missense	possibly damaging	0.94
R7296:Ptpn1	UTSW	2	167,816,692 (GRCm39)	missense	probably damaging	0.98
R8350:Ptpn1	UTSW	2	167,816,161 (GRCm39)	missense	probably damaging	1.00
R9275:Ptpn1	UTSW	2	167,816,176 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGACTTGGTGCACACATGGG -3'
(R):5'- ACCATCATCAATCCTTGGGTG -3'

Sequencing Primer
(F):5'- TGTGGATAATGTGCCCAGCCTAAC -3'
(R):5'- AATCCTTGGGTGTCCTCCAAG -3'

Posted On

2015-03-18