Mutagenetix > Incidental Mutation

Incidental Mutation 'R0440:Ptn'

46684

Institutional Source

Beutler Lab

Gene Symbol

Ptn

Ensembl Gene

ENSMUSG00000029838

Gene Name

pleiotrophin

Synonyms

Osf1, heparin-binding growth-associated molecule, HB-GAM, heparin-binding growth factor 8, HBNF, Osf-1, HBGF-8

MMRRC Submission

038641-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R0440 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

36691863-36787114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36721432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 3 (S3P)

Ref Sequence

ENSEMBL: ENSMUSP00000099073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101534] [ENSMUST00000201321]

AlphaFold

P63089

Predicted Effect

probably benign
Transcript: ENSMUST00000101534
AA Change: S3P

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099073
Gene: ENSMUSG00000029838
AA Change: S3P

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
low complexity region	34	44	N/A	INTRINSIC
PTN	47	131	6.62e-51	SMART
low complexity region	146	165	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201321
AA Change: S3P

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

SMART Domains

Protein: ENSMUSP00000144184
Gene: ENSMUSG00000029838
AA Change: S3P

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
low complexity region	34	44	N/A	INTRINSIC
PTN	47	131	6.62e-51	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

Validation Efficiency

99% (68/69)

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 a secreted heparin-binding growth factor. The protein has significant roles in cell growth and survival, cell migration, angiogenesis and tumorigenesis. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
PHENOTYPE: Homozygous null mice exhibit enhanced long term potentiation, an impairment of spatial learning, and increased anxiety. The brains of mutant mice are morphologically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	A	15: 83,112,694 (GRCm39)	R30W	probably damaging	Het
Adam7	T	C	14: 68,748,305 (GRCm39)		probably null	Het
Agl	A	T	3: 116,552,455 (GRCm39)	L1158Q	probably damaging	Het
Akap9	T	C	5: 4,114,569 (GRCm39)	S66P	probably damaging	Het
Akr1c20	T	A	13: 4,537,207 (GRCm39)	D316V	probably benign	Het
App	C	A	16: 84,853,302 (GRCm39)	E259*	probably null	Het
Arhgef4	A	G	1: 34,784,529 (GRCm39)		probably null	Het
Armc9	G	A	1: 86,121,984 (GRCm39)		probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Btaf1	C	T	19: 36,964,053 (GRCm39)	P875S	probably damaging	Het
Cc2d1b	T	A	4: 108,483,013 (GRCm39)		probably null	Het
Ccar1	C	T	10: 62,616,236 (GRCm39)	V165I	possibly damaging	Het
Ccdc106	A	T	7: 5,063,244 (GRCm39)	I250F	probably damaging	Het
Ccny	T	C	18: 9,332,917 (GRCm39)	I205V	probably benign	Het
Cfap52	T	A	11: 67,844,914 (GRCm39)	I52L	probably benign	Het
Chd8	T	A	14: 52,442,283 (GRCm39)	T2096S	possibly damaging	Het
Clstn3	G	A	6: 124,428,372 (GRCm39)	T423I	probably damaging	Het
Col13a1	T	C	10: 61,703,262 (GRCm39)	D440G	possibly damaging	Het
Dclk3	G	A	9: 111,298,231 (GRCm39)	V592M	probably damaging	Het
Ddx31	A	T	2: 28,747,144 (GRCm39)	I208F	probably damaging	Het
Dlat	A	T	9: 50,556,419 (GRCm39)		probably null	Het
Eml4	T	C	17: 83,753,487 (GRCm39)		probably null	Het
Enpp2	T	A	15: 54,710,633 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,244,315 (GRCm39)	S38G	possibly damaging	Het
Gcnt1	G	A	19: 17,307,680 (GRCm39)	T15I	probably benign	Het
Gm21834	T	C	17: 58,049,121 (GRCm39)	T32A	possibly damaging	Het
Golga2	A	G	2: 32,192,945 (GRCm39)	D394G	probably damaging	Het
Gtf3c4	G	T	2: 28,730,181 (GRCm39)		probably null	Het
Igkv4-69	A	G	6: 69,261,253 (GRCm39)		probably benign	Het
Inpp5j	T	C	11: 3,451,150 (GRCm39)	R500G	possibly damaging	Het
Kif5b	A	T	18: 6,226,980 (GRCm39)		probably benign	Het
Klhl36	A	G	8: 120,603,290 (GRCm39)	E515G	probably damaging	Het
Lifr	C	T	15: 7,186,672 (GRCm39)	R59*	probably null	Het
Lrif1	A	T	3: 106,641,714 (GRCm39)	Q10L	possibly damaging	Het
Lrp8	A	G	4: 107,726,295 (GRCm39)	E908G	probably damaging	Het
Lrrc23	A	T	6: 124,747,667 (GRCm39)	D307E	probably benign	Het
Mpv17l	T	C	16: 13,762,583 (GRCm39)	F27L	probably damaging	Het
Mta3	C	T	17: 84,074,016 (GRCm39)	A76V	probably damaging	Het
Muc5ac	T	A	7: 141,345,771 (GRCm39)	Y202*	probably null	Het
Naprt	A	G	15: 75,762,918 (GRCm39)		probably benign	Het
Npr2	T	A	4: 43,650,315 (GRCm39)	V960D	probably damaging	Het
Oca2	A	T	7: 56,073,100 (GRCm39)	Y765F	probably benign	Het
Or2d2	A	T	7: 106,727,939 (GRCm39)	H220Q	probably benign	Het
Plxna2	T	A	1: 194,326,712 (GRCm39)	Y215*	probably null	Het
Prdm16	G	A	4: 154,561,084 (GRCm39)		probably benign	Het
Pus10	T	C	11: 23,623,331 (GRCm39)		probably benign	Het
Rad21	A	T	15: 51,831,754 (GRCm39)	D442E	probably benign	Het
Rmdn2	A	G	17: 79,975,384 (GRCm39)	H291R	probably damaging	Het
Rp1	A	G	1: 4,415,863 (GRCm39)	S1750P	probably damaging	Het
Samd4b	A	T	7: 28,107,585 (GRCm39)	I228N	probably benign	Het
Sdr9c7	G	T	10: 127,734,822 (GRCm39)		probably benign	Het
Slc13a2	T	C	11: 78,294,001 (GRCm39)	N254D	probably benign	Het
Slc16a8	T	A	15: 79,136,807 (GRCm39)	I132F	probably damaging	Het
Slc18b1	T	A	10: 23,694,976 (GRCm39)	Y274N	probably benign	Het
Slc45a2	A	T	15: 11,000,903 (GRCm39)	M1L	probably benign	Het
Smc1b	A	G	15: 84,996,874 (GRCm39)		probably benign	Het
Stab2	T	C	10: 86,785,792 (GRCm39)	S617G	probably benign	Het
Stk10	A	G	11: 32,554,190 (GRCm39)	M626V	probably damaging	Het
Synpo2l	T	G	14: 20,711,466 (GRCm39)	I385L	possibly damaging	Het
Tmprss11d	T	C	5: 86,486,671 (GRCm39)	Y73C	probably damaging	Het
Ttc21b	A	G	2: 66,066,726 (GRCm39)	V309A	probably benign	Het
Tubgcp6	A	G	15: 88,987,268 (GRCm39)	I1235T	probably benign	Het
Usp8	A	G	2: 126,567,310 (GRCm39)	I110V	probably benign	Het
Vps13c	G	A	9: 67,880,143 (GRCm39)	G3442S	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Zfp207	T	A	11: 80,286,333 (GRCm39)		probably benign	Het
Zfp748	A	C	13: 67,701,144 (GRCm39)		probably null	Het

Other mutations in Ptn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Ptn	APN	6	36,720,424 (GRCm39)	missense	probably benign	0.43
IGL01485:Ptn	APN	6	36,720,298 (GRCm39)	missense	probably damaging	1.00
IGL02604:Ptn	APN	6	36,692,653 (GRCm39)	missense	unknown
PIT4366001:Ptn	UTSW	6	36,718,284 (GRCm39)	missense	probably benign	0.24
R0504:Ptn	UTSW	6	36,718,388 (GRCm39)	splice site	probably benign
R3915:Ptn	UTSW	6	36,720,282 (GRCm39)	missense	probably damaging	0.99
R5262:Ptn	UTSW	6	36,721,419 (GRCm39)	missense	probably benign	0.00
R8913:Ptn	UTSW	6	36,718,276 (GRCm39)	missense	probably benign	0.07
R9746:Ptn	UTSW	6	36,692,699 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTACCACCCAGTGAAGCATCTCTC -3'
(R):5'- TGATGAACCCCATGACTGTAATGCC -3'

Sequencing Primer
(F):5'- CAGTGAAGCATCTCTCTGTGAATC -3'
(R):5'- GCTGTTATCACCAAGTGATGC -3'

Posted On

2013-06-11