Mutagenetix > Incidental Mutation

Incidental Mutation 'R0414:Ptpn5'

40167

Institutional Source

Beutler Lab

Gene Symbol

Ptpn5

Ensembl Gene

ENSMUSG00000030854

Gene Name

protein tyrosine phosphatase, non-receptor type 5

Synonyms

Step

MMRRC Submission

038616-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0414 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

46727543-46783432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46732884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 320 (P320S)

Ref Sequence

ENSEMBL: ENSMUSP00000099686 (fasta)

Gene Model

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

AlphaFold

P54830

Predicted Effect

probably benign
Transcript: ENSMUST00000033142
AA Change: P320S

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

SMART Domains

Protein: ENSMUSP00000033142
Gene: ENSMUSG00000030854
AA Change: P320S

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 benign
Transcript: ENSMUST00000102626
AA Change: P320S

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

SMART Domains

Protein: ENSMUSP00000099686
Gene: ENSMUSG00000030854
AA Change: P320S

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

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

96% (64/67)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	A	T	5: 103,797,356 (GRCm39)	V51E	probably benign	Het
Abo	T	C	2: 26,733,428 (GRCm39)	Y259C	probably damaging	Het
Adamts5	A	G	16: 85,674,794 (GRCm39)	S457P	probably damaging	Het
Alk	G	T	17: 72,206,281 (GRCm39)		probably benign	Het
Alpk2	A	G	18: 65,439,230 (GRCm39)	I1188T	probably benign	Het
Ambra1	T	C	2: 91,706,084 (GRCm39)	S730P	possibly damaging	Het
Arhgef2	T	C	3: 88,539,575 (GRCm39)		probably benign	Het
Atpsckmt	T	A	15: 31,617,148 (GRCm39)	Y126*	probably null	Het
B3gnt7	T	C	1: 86,233,351 (GRCm39)	I82T	probably damaging	Het
B4galnt3	T	C	6: 120,193,526 (GRCm39)	D400G	probably benign	Het
Bag4	A	G	8: 26,258,025 (GRCm39)	V434A	possibly damaging	Het
Cfap251	A	G	5: 123,425,476 (GRCm39)		probably null	Het
Cfc1	A	G	1: 34,576,409 (GRCm39)	D130G	probably damaging	Het
Chd4	T	C	6: 125,084,443 (GRCm39)	Y692H	probably damaging	Het
Cilp2	A	G	8: 70,335,643 (GRCm39)	S452P	probably benign	Het
Clec2m	T	C	6: 129,303,813 (GRCm39)		probably benign	Het
Crybg2	GAGAAGAAG	GAGAAG	4: 133,799,947 (GRCm39)		probably benign	Het
Dnah2	T	C	11: 69,390,064 (GRCm39)	D727G	probably benign	Het
Dock10	C	A	1: 80,513,650 (GRCm39)	V1129F	possibly damaging	Het
Dsc1	A	T	18: 20,221,411 (GRCm39)	I688N	possibly damaging	Het
Dyrk1a	C	G	16: 94,464,701 (GRCm39)	T103R	probably damaging	Het
Ebf1	C	T	11: 44,815,297 (GRCm39)	R304*	probably null	Het
Eif2s2	A	G	2: 154,726,381 (GRCm39)		probably benign	Het
Endov	T	G	11: 119,390,397 (GRCm39)	Y8*	probably null	Het
Eps15	T	A	4: 109,223,677 (GRCm39)	D485E	probably damaging	Het
Fam118a	C	A	15: 84,929,890 (GRCm39)	S39R	probably damaging	Het
Fbxo22	T	A	9: 55,130,910 (GRCm39)	M393K	possibly damaging	Het
Firrm	T	C	1: 163,795,890 (GRCm39)	I434V	probably benign	Het
Gab1	A	G	8: 81,526,918 (GRCm39)	I60T	probably damaging	Het
Gapvd1	A	G	2: 34,583,439 (GRCm39)	L1059P	probably benign	Het
Gbp5	A	G	3: 142,213,674 (GRCm39)		probably null	Het
Glb1l2	T	A	9: 26,676,400 (GRCm39)	K487*	probably null	Het
H1f1	A	G	13: 23,948,141 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,591,573 (GRCm39)	I1875M	possibly damaging	Het
Jkamp	T	C	12: 72,140,919 (GRCm39)		probably null	Het
Kprp	C	T	3: 92,733,020 (GRCm39)	C10Y	probably damaging	Het
Lrig2	A	G	3: 104,401,372 (GRCm39)		probably null	Het
Lrrn3	T	A	12: 41,503,939 (GRCm39)	N126I	probably damaging	Het
Mug1	T	C	6: 121,833,513 (GRCm39)	F325L	probably benign	Het
Myadm	AC	ACC	7: 3,345,276 (GRCm39)		probably null	Het
Nagk	C	T	6: 83,774,249 (GRCm39)	R87*	probably null	Het
Nipal4	T	A	11: 46,052,735 (GRCm39)	I77F	probably damaging	Het
Or4c112	A	G	2: 88,853,490 (GRCm39)	Y286H	probably damaging	Het
Osbp2	T	C	11: 3,769,932 (GRCm39)	H250R	probably damaging	Het
Pcx	T	C	19: 4,657,670 (GRCm39)	V378A	possibly damaging	Het
Pfkp	T	A	13: 6,643,246 (GRCm39)	H524L	probably benign	Het
Picalm	A	T	7: 89,838,406 (GRCm39)	N370I	possibly damaging	Het
Plcl2	A	C	17: 50,914,983 (GRCm39)	D664A	possibly damaging	Het
Scn3a	T	A	2: 65,356,326 (GRCm39)		probably benign	Het
Sfswap	A	G	5: 129,581,115 (GRCm39)	D96G	possibly damaging	Het
Slfn1	A	G	11: 83,012,096 (GRCm39)	I71V	probably benign	Het
Spata1	A	G	3: 146,181,943 (GRCm39)		probably null	Het
Stx18	T	C	5: 38,262,349 (GRCm39)		probably benign	Het
Suox	T	A	10: 128,507,326 (GRCm39)	H234L	probably benign	Het
Tbc1d17	T	C	7: 44,495,483 (GRCm39)	S114G	probably benign	Het
Tfeb	T	A	17: 48,099,224 (GRCm39)		probably null	Het
Tnks	A	C	8: 35,320,463 (GRCm39)	V736G	probably damaging	Het
Wdhd1	T	C	14: 47,514,045 (GRCm39)	T4A	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGGGGCTTGTAGGAGCCACAC -3'
(R):5'- GCTGGGAACTCATGATCACAGCAG -3'

Sequencing Primer
(F):5'- TAGGAGCCACACTGGCTTG -3'
(R):5'- gagccatcttaccagtccc -3'

Posted On

2013-05-23