Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01557:Ptpn5'

90744

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 #

IGL01557

Quality Score

Status

Chromosome

Chromosomal Location

46727543-46783432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46731636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 411 (Y411C)

Ref Sequence

ENSEMBL: ENSMUSP00000099686 (fasta)

Gene Model

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

AlphaFold

P54830

Predicted Effect

probably damaging
Transcript: ENSMUST00000033142
AA Change: Y411C

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

SMART Domains

Protein: ENSMUSP00000033142
Gene: ENSMUSG00000030854
AA Change: Y411C

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 damaging
Transcript: ENSMUST00000102626
AA Change: Y411C

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

SMART Domains

Protein: ENSMUSP00000099686
Gene: ENSMUSG00000030854
AA Change: Y411C

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,101,792 (GRCm39)		probably null	Het
Arl9	T	G	5: 77,151,948 (GRCm39)		probably null	Het
Ces3a	C	A	8: 105,784,383 (GRCm39)	T439K	probably damaging	Het
Cyp3a25	A	G	5: 145,921,711 (GRCm39)	W408R	probably damaging	Het
Defb22	T	G	2: 152,327,999 (GRCm39)	D62A	possibly damaging	Het
Dnah17	C	T	11: 117,964,512 (GRCm39)	R2422Q	probably damaging	Het
Ehd3	A	G	17: 74,112,275 (GRCm39)	K13R	probably benign	Het
Fndc1	T	C	17: 7,975,221 (GRCm39)	E1406G	probably damaging	Het
Gak	A	C	5: 108,732,203 (GRCm39)	Y762D	probably damaging	Het
Igf2r	A	G	17: 12,923,522 (GRCm39)	S1187P	possibly damaging	Het
Ighmbp2	T	C	19: 3,331,472 (GRCm39)	E68G	probably benign	Het
Itpr2	T	C	6: 146,060,474 (GRCm39)	T2448A	probably damaging	Het
Lrrk2	T	G	15: 91,584,192 (GRCm39)	C317W	probably damaging	Het
Morc1	T	A	16: 48,319,129 (GRCm39)	S278T	probably damaging	Het
Mrps9	T	C	1: 42,890,510 (GRCm39)	V20A	probably benign	Het
Nutm1	A	T	2: 112,082,163 (GRCm39)	N304K	probably benign	Het
Or14j8	G	A	17: 38,263,742 (GRCm39)	P58S	probably damaging	Het
Pcdhb9	T	C	18: 37,536,100 (GRCm39)	V698A	probably damaging	Het
Pitrm1	C	A	13: 6,602,720 (GRCm39)	D70E	probably benign	Het
Pkhd1	T	C	1: 20,187,203 (GRCm39)	T3702A	possibly damaging	Het
Ppm1h	A	T	10: 122,618,086 (GRCm39)		probably null	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Spon2	G	A	5: 33,374,047 (GRCm39)	A112V	probably damaging	Het
Zfp648	T	A	1: 154,080,426 (GRCm39)	V195D	probably benign	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
IGL01691:Ptpn5	APN	7	46,732,906 (GRCm39)	missense	probably benign	0.27
IGL02051:Ptpn5	APN	7	46,732,507 (GRCm39)	critical splice donor site	probably null
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

2013-12-09