Mutagenetix > Incidental Mutation

Incidental Mutation 'R4645:Ptpn20'

350184

Institutional Source

Beutler Lab

Gene Symbol

Ptpn20

Ensembl Gene

ENSMUSG00000021940

Gene Name

protein tyrosine phosphatase, non-receptor type 20

Synonyms

typ

MMRRC Submission

041906-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4645 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33311164-33362711 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33353169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 303 (V303I)

Ref Sequence

ENSEMBL: ENSMUSP00000022508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022508] [ENSMUST00000226512] [ENSMUST00000227887]

AlphaFold

O55082

Predicted Effect

probably benign
Transcript: ENSMUST00000022508
AA Change: V303I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022508
Gene: ENSMUSG00000021940
AA Change: V303I

Domain	Start	End	E-Value	Type
low complexity region	12	35	N/A	INTRINSIC
PTPc	164	420	1.12e-120	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000226512

Predicted Effect

probably benign
Transcript: ENSMUST00000227887

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes. The encoded protein appears to be targeted to sites of actin polymerization. A pseudogene of this gene has been defined on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,635,700 (GRCm39)	E101G	probably damaging	Het
Adgrf5	A	G	17: 43,748,416 (GRCm39)	E29G	probably damaging	Het
Agfg2	T	A	5: 137,682,854 (GRCm39)		probably benign	Het
Ap4b1	A	G	3: 103,728,765 (GRCm39)	S468G	probably benign	Het
AY702103	G	T	17: 50,546,941 (GRCm39)		noncoding transcript	Het
Ccdc14	T	C	16: 34,542,110 (GRCm39)	L536S	probably damaging	Het
Ccr9	G	T	9: 123,608,658 (GRCm39)	M101I	probably benign	Het
Celsr1	A	T	15: 85,800,957 (GRCm39)	V2496E	probably benign	Het
Celsr2	C	A	3: 108,303,285 (GRCm39)	G2486V	probably damaging	Het
Cntnap3	A	G	13: 64,926,602 (GRCm39)		probably null	Het
Erlin1	T	C	19: 44,057,759 (GRCm39)	Y22C	probably damaging	Het
Fam135b	T	C	15: 71,334,189 (GRCm39)	T1002A	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Glud1	T	C	14: 34,033,063 (GRCm39)	V70A	probably damaging	Het
Hdlbp	A	G	1: 93,349,842 (GRCm39)		probably benign	Het
Immt	T	C	6: 71,833,923 (GRCm39)	L184P	probably damaging	Het
Iqsec1	T	G	6: 90,644,995 (GRCm39)	K983T	probably damaging	Het
Klhl6	A	T	16: 19,765,897 (GRCm39)	N568K	probably damaging	Het
Lbhd1	T	G	19: 8,861,452 (GRCm39)		probably benign	Het
Lrit2	C	T	14: 36,794,432 (GRCm39)	R499C	probably benign	Het
Lrp6	T	C	6: 134,461,213 (GRCm39)	D748G	probably damaging	Het
Lrriq4	A	G	3: 30,704,892 (GRCm39)	K292E	probably benign	Het
Ly96	G	T	1: 16,761,940 (GRCm39)	E49*	probably null	Het
Lztr1	C	T	16: 17,341,955 (GRCm39)		probably benign	Het
Mmp12	A	G	9: 7,347,515 (GRCm39)	M31V	probably benign	Het
Mok	A	T	12: 110,774,873 (GRCm39)		probably benign	Het
Mpi	T	C	9: 57,458,040 (GRCm39)	H54R	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Or4c101	T	C	2: 88,390,722 (GRCm39)	I292T	probably damaging	Het
Pomt1	G	T	2: 32,132,888 (GRCm39)		probably benign	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
Shank2	A	G	7: 143,964,159 (GRCm39)	K799R	possibly damaging	Het
Sim1	A	T	10: 50,860,093 (GRCm39)	T652S	probably benign	Het
Slc8a2	C	T	7: 15,868,164 (GRCm39)	T132I	probably damaging	Het
Spaca6	A	T	17: 18,056,307 (GRCm39)		probably benign	Het
Sympk	G	T	7: 18,777,385 (GRCm39)	R545L	possibly damaging	Het
Tenm4	G	T	7: 96,544,949 (GRCm39)	G2322W	probably damaging	Het
Thap1	A	G	8: 26,652,597 (GRCm39)	T135A	probably damaging	Het
Traf3	T	C	12: 111,228,400 (GRCm39)	V537A	probably damaging	Het
Ttn	T	C	2: 76,578,680 (GRCm39)	D24071G	probably damaging	Het
Tysnd1	G	T	10: 61,531,962 (GRCm39)	V205L	probably benign	Het
Unc79	T	C	12: 103,079,081 (GRCm39)	S1749P	probably benign	Het
Vmn2r50	T	A	7: 9,771,162 (GRCm39)	*846C	probably null	Het
Vmn2r74	C	T	7: 85,606,317 (GRCm39)	S343N	probably benign	Het
Zfyve28	T	G	5: 34,379,787 (GRCm39)		probably benign	Het
Zmym2	T	C	14: 57,165,764 (GRCm39)	S696P	probably damaging	Het
Zscan4e	T	C	7: 11,041,002 (GRCm39)	Y290C	possibly damaging	Het
Zswim2	G	T	2: 83,745,891 (GRCm39)	H516N	probably benign	Het

Other mutations in Ptpn20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Ptpn20	APN	14	33,344,576 (GRCm39)	missense	probably benign	0.22
IGL01510:Ptpn20	APN	14	33,360,343 (GRCm39)	splice site	probably null
R2057:Ptpn20	UTSW	14	33,352,942 (GRCm39)	missense	probably damaging	0.98
R2262:Ptpn20	UTSW	14	33,334,268 (GRCm39)	missense	probably benign
R3106:Ptpn20	UTSW	14	33,334,253 (GRCm39)	missense	probably benign
R3430:Ptpn20	UTSW	14	33,336,485 (GRCm39)	missense	possibly damaging	0.61
R4928:Ptpn20	UTSW	14	33,336,446 (GRCm39)	missense	probably benign	0.00
R4962:Ptpn20	UTSW	14	33,336,416 (GRCm39)	missense	probably benign	0.02
R5087:Ptpn20	UTSW	14	33,336,398 (GRCm39)	missense	possibly damaging	0.90
R5163:Ptpn20	UTSW	14	33,353,068 (GRCm39)	missense	probably benign	0.07
R5275:Ptpn20	UTSW	14	33,353,149 (GRCm39)	missense	probably benign	0.00
R6325:Ptpn20	UTSW	14	33,352,962 (GRCm39)	missense	possibly damaging	0.52
R6651:Ptpn20	UTSW	14	33,354,897 (GRCm39)	missense	probably damaging	1.00
R6831:Ptpn20	UTSW	14	33,354,882 (GRCm39)	missense	probably damaging	1.00
R6903:Ptpn20	UTSW	14	33,336,461 (GRCm39)	missense	probably damaging	0.98
R7034:Ptpn20	UTSW	14	33,336,392 (GRCm39)	makesense	probably null
R7036:Ptpn20	UTSW	14	33,336,392 (GRCm39)	makesense	probably null
R7265:Ptpn20	UTSW	14	33,336,481 (GRCm39)	missense	probably benign	0.05
R7654:Ptpn20	UTSW	14	33,360,281 (GRCm39)	missense	probably benign	0.18
R7735:Ptpn20	UTSW	14	33,352,902 (GRCm39)	missense	probably damaging	1.00
R7761:Ptpn20	UTSW	14	33,344,509 (GRCm39)	missense	probably benign	0.18
R8314:Ptpn20	UTSW	14	33,344,504 (GRCm39)	missense	possibly damaging	0.73
R9356:Ptpn20	UTSW	14	33,352,865 (GRCm39)	nonsense	probably null
R9690:Ptpn20	UTSW	14	33,353,176 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- AAGACTTTTGGCAAATGGTTCTGG -3'
(R):5'- CCAGTCACAGTTTGGCTAAAC -3'

Sequencing Primer
(F):5'- GGCAAATGGTTCTGGAAAATAATTG -3'
(R):5'- CTGACTGGCCTTGAACTTACAGAG -3'

Posted On

2015-10-08