Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02051:Ptpn5'

186125

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptpn5

Ensembl Gene

ENSMUSG00000030854

Gene Name

protein tyrosine phosphatase, non-receptor type 5

Synonyms

Step

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02051

Quality Score

Status

Chromosome

Chromosomal Location

46727543-46783432 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 46732507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033142] [ENSMUST00000102626]

AlphaFold

P54830

Predicted Effect

probably null
Transcript: ENSMUST00000033142

SMART Domains

Protein: ENSMUSP00000033142
Gene: ENSMUSG00000030854

Domain	Start	End	E-Value	Type
low complexity region	26	51	N/A	INTRINSIC
low complexity region	121	138	N/A	INTRINSIC
low complexity region	141	155	N/A	INTRINSIC
PTPc	275	533	2.39e-115	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000102626

SMART Domains

Protein: ENSMUSP00000099686
Gene: ENSMUSG00000030854

Domain	Start	End	E-Value	Type
low complexity region	26	51	N/A	INTRINSIC
low complexity region	121	138	N/A	INTRINSIC
low complexity region	141	155	N/A	INTRINSIC
PTPc	275	533	2.39e-115	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209161

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit normal brain development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacul1	T	C	19: 60,531,504 (GRCm39)	D255G	probably damaging	Het
Chi3l1	T	C	1: 134,111,887 (GRCm39)	S94P	probably damaging	Het
Defa38	A	G	8: 21,585,275 (GRCm39)		probably benign	Het
Dzip3	T	C	16: 48,792,617 (GRCm39)	T223A	probably benign	Het
Firrm	T	C	1: 163,785,091 (GRCm39)	T763A	probably benign	Het
Gfra3	T	C	18: 34,828,894 (GRCm39)	T167A	possibly damaging	Het
Glb1l3	T	C	9: 26,736,464 (GRCm39)	I533V	probably benign	Het
Gm11437	T	A	11: 84,043,592 (GRCm39)	Q233L	probably benign	Het
Hif1an	A	G	19: 44,551,829 (GRCm39)	Y93C	probably damaging	Het
Hspg2	A	G	4: 137,295,700 (GRCm39)		probably benign	Het
Ints15	A	G	5: 143,293,737 (GRCm39)	C247R	probably damaging	Het
Mak	G	A	13: 41,195,558 (GRCm39)	A385V	probably benign	Het
Mical2	G	T	7: 111,980,597 (GRCm39)	K190N	probably benign	Het
Moxd1	A	G	10: 24,128,916 (GRCm39)		probably null	Het
Ryr1	A	G	7: 28,771,083 (GRCm39)	Y2614H	probably benign	Het
Sema3e	T	A	5: 14,274,324 (GRCm39)	Y192N	possibly damaging	Het
Smpd4	T	C	16: 17,444,382 (GRCm39)	L145P	probably damaging	Het
Tesk2	A	G	4: 116,608,381 (GRCm39)	E101G	probably damaging	Het
Vmn1r68	A	T	7: 10,261,948 (GRCm39)	V50E	probably benign	Het
Vpreb3	G	A	10: 75,784,244 (GRCm39)		probably null	Het
Vps72	T	C	3: 95,030,040 (GRCm39)	L353P	possibly damaging	Het

Other mutations in Ptpn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01508:Ptpn5	APN	7	46,741,303 (GRCm39)	missense	probably benign	0.00
IGL01557:Ptpn5	APN	7	46,731,636 (GRCm39)	missense	probably damaging	1.00
IGL01691:Ptpn5	APN	7	46,732,906 (GRCm39)	missense	probably benign	0.27
PIT4696001:Ptpn5	UTSW	7	46,738,354 (GRCm39)	missense	probably benign
R0309:Ptpn5	UTSW	7	46,729,042 (GRCm39)	missense	probably damaging	0.97
R0325:Ptpn5	UTSW	7	46,740,507 (GRCm39)	missense	probably benign
R0325:Ptpn5	UTSW	7	46,740,506 (GRCm39)	missense	probably benign
R0414:Ptpn5	UTSW	7	46,732,884 (GRCm39)	missense	probably benign
R0570:Ptpn5	UTSW	7	46,728,681 (GRCm39)	splice site	probably benign
R0885:Ptpn5	UTSW	7	46,738,359 (GRCm39)	missense	probably benign	0.08
R1311:Ptpn5	UTSW	7	46,728,980 (GRCm39)	splice site	probably benign
R1501:Ptpn5	UTSW	7	46,739,623 (GRCm39)	missense	probably benign	0.26
R1772:Ptpn5	UTSW	7	46,740,516 (GRCm39)	missense	probably benign	0.00
R1815:Ptpn5	UTSW	7	46,728,589 (GRCm39)	missense	probably benign
R1913:Ptpn5	UTSW	7	46,728,616 (GRCm39)	missense	possibly damaging	0.92
R2109:Ptpn5	UTSW	7	46,735,807 (GRCm39)	missense	probably damaging	0.99
R2112:Ptpn5	UTSW	7	46,732,890 (GRCm39)	missense	probably benign	0.00
R2184:Ptpn5	UTSW	7	46,738,350 (GRCm39)	missense	probably damaging	0.99
R4244:Ptpn5	UTSW	7	46,741,296 (GRCm39)	nonsense	probably null
R4551:Ptpn5	UTSW	7	46,740,600 (GRCm39)	intron	probably benign
R5353:Ptpn5	UTSW	7	46,731,642 (GRCm39)	missense	probably benign	0.03
R5897:Ptpn5	UTSW	7	46,729,262 (GRCm39)	missense	probably benign	0.41
R6442:Ptpn5	UTSW	7	46,732,831 (GRCm39)	splice site	probably null
R7549:Ptpn5	UTSW	7	46,735,874 (GRCm39)	critical splice acceptor site	probably null
R7960:Ptpn5	UTSW	7	46,729,295 (GRCm39)	missense	possibly damaging	0.85
R9308:Ptpn5	UTSW	7	46,740,569 (GRCm39)	missense	probably benign	0.07
R9580:Ptpn5	UTSW	7	46,732,622 (GRCm39)	missense	probably damaging	1.00
Z1176:Ptpn5	UTSW	7	46,735,870 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07