Mutagenetix > Incidental Mutation

Incidental Mutation 'R4883:Ptpn14'

375371

Institutional Source

Beutler Lab

Gene Symbol

Ptpn14

Ensembl Gene

ENSMUSG00000026604

Gene Name

protein tyrosine phosphatase, non-receptor type 14

Synonyms

C130080N23Rik, OTTMUSG00000022087, PTP36

MMRRC Submission

042491-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

189460465-189608892 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 189582997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 615 (P615S)

Ref Sequence

ENSEMBL: ENSMUSP00000095051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027898] [ENSMUST00000097442]

AlphaFold

Q62130

Predicted Effect

probably benign
Transcript: ENSMUST00000027898

SMART Domains

Protein: ENSMUSP00000027898
Gene: ENSMUSG00000026604

Domain	Start	End	E-Value	Type
B41	17	220	3.7e-67	SMART
FERM_C	224	310	3.43e-15	SMART
low complexity region	565	575	N/A	INTRINSIC
low complexity region	633	639	N/A	INTRINSIC
low complexity region	710	718	N/A	INTRINSIC
low complexity region	745	758	N/A	INTRINSIC
low complexity region	817	834	N/A	INTRINSIC
PTPc	910	1184	2.14e-103	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000097442
AA Change: P615S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095051
Gene: ENSMUSG00000026604
AA Change: P615S

Domain	Start	End	E-Value	Type
B41	17	220	3.7e-67	SMART
FERM_C	224	310	3.43e-15	SMART
low complexity region	565	575	N/A	INTRINSIC
low complexity region	633	639	N/A	INTRINSIC
low complexity region	710	718	N/A	INTRINSIC
low complexity region	745	758	N/A	INTRINSIC
low complexity region	817	834	N/A	INTRINSIC
PTPc	910	1184	2.14e-103	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195038

Meta Mutation Damage Score

0.0717

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

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 member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit some postnatal growth retardation, decreased body weight, periorbital and limb edema, and lymphatic vessel hyperplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,217,457 (GRCm39)	D133G	probably damaging	Het
Abcg4	G	T	9: 44,190,616 (GRCm39)	H55Q	probably damaging	Het
Acaca	T	A	11: 84,142,116 (GRCm39)	V641E	probably benign	Het
Adam28	T	C	14: 68,875,552 (GRCm39)	I229V	probably damaging	Het
Adgrl3	T	A	5: 81,837,493 (GRCm39)	I793N	probably damaging	Het
Akr1d1	A	T	6: 37,535,336 (GRCm39)	D240V	possibly damaging	Het
Arhgef25	T	C	10: 127,018,802 (GRCm39)	D548G	probably benign	Het
Asl	A	G	5: 130,042,802 (GRCm39)		probably null	Het
Atg14	C	T	14: 47,788,771 (GRCm39)	R194Q	probably damaging	Het
BC004004	T	A	17: 29,501,166 (GRCm39)	F38L	probably damaging	Het
Btg1	T	C	10: 96,453,259 (GRCm39)	F25L	probably benign	Het
Btrc	C	T	19: 45,445,026 (GRCm39)	P35S	probably benign	Het
Calcr	T	A	6: 3,714,705 (GRCm39)	N142Y	probably damaging	Het
Ccdc138	A	G	10: 58,397,818 (GRCm39)	I553V	probably benign	Het
Ccdc198	T	A	14: 49,482,560 (GRCm39)	N52I	probably damaging	Het
Cdc42	T	A	4: 137,056,115 (GRCm39)	N132I	probably benign	Het
Ces1e	A	G	8: 93,950,716 (GRCm39)	S22P	probably benign	Het
Clmn	G	T	12: 104,748,307 (GRCm39)	D413E	probably benign	Het
Cramp1	T	C	17: 25,201,293 (GRCm39)	T730A	probably benign	Het
Dnah5	A	T	15: 28,343,784 (GRCm39)	M2395L	probably benign	Het
Ephx1	G	T	1: 180,829,488 (GRCm39)	S20Y	possibly damaging	Het
Exoc5	T	G	14: 49,289,821 (GRCm39)	E19A	probably damaging	Het
Fam120b	T	C	17: 15,623,294 (GRCm39)	L424P	probably benign	Het
Fam89a	G	A	8: 125,467,823 (GRCm39)	T163I	possibly damaging	Het
Fcrl2	G	A	3: 87,166,922 (GRCm39)	L24F	possibly damaging	Het
Fgd6	G	T	10: 93,975,715 (GRCm39)	V1377L	probably benign	Het
Glud1	T	A	14: 34,057,347 (GRCm39)	I337K	possibly damaging	Het
Gm6370	T	A	5: 146,430,736 (GRCm39)	I303N	probably benign	Het
Gm7995	T	C	14: 42,133,383 (GRCm39)	Y88H	probably damaging	Het
Gsdma3	T	C	11: 98,520,393 (GRCm39)		probably null	Het
Gsdmc2	T	C	15: 63,707,614 (GRCm39)	D60G	probably damaging	Het
Hcn1	T	A	13: 118,039,431 (GRCm39)		probably null	Het
Hectd1	A	T	12: 51,831,030 (GRCm39)	C936*	probably null	Het
Herc4	T	A	10: 63,121,433 (GRCm39)	S358T	probably benign	Het
Hk3	A	G	13: 55,158,735 (GRCm39)	C515R	probably benign	Het
Ighg1	A	G	12: 113,291,138 (GRCm39)		probably benign	Het
Iqgap3	T	A	3: 88,014,842 (GRCm39)	C853S	probably benign	Het
Irx4	G	A	13: 73,415,750 (GRCm39)	A180T	probably damaging	Het
Kif20b	A	G	19: 34,943,522 (GRCm39)	T1441A	probably benign	Het
Lifr	A	G	15: 7,215,106 (GRCm39)	K738E	possibly damaging	Het
Lmntd2	A	T	7: 140,792,531 (GRCm39)	S218T	probably damaging	Het
Lnx1	A	T	5: 74,768,530 (GRCm39)	W353R	probably benign	Het
Lrfn3	G	T	7: 30,055,238 (GRCm39)	P569Q	possibly damaging	Het
Mamstr	A	G	7: 45,293,838 (GRCm39)	I11V	probably benign	Het
Med31	T	C	11: 72,104,975 (GRCm39)	N32S	possibly damaging	Het
Mob3c	A	T	4: 115,690,928 (GRCm39)	I173F	probably benign	Het
Morc3	A	G	16: 93,667,250 (GRCm39)		probably null	Het
Mphosph9	T	C	5: 124,437,108 (GRCm39)	K412R	probably damaging	Het
Mtcl3	A	T	10: 29,072,537 (GRCm39)	N610Y	probably damaging	Het
Mthfd1l	C	T	10: 3,957,775 (GRCm39)	P271S	probably benign	Het
Ncam1	C	T	9: 49,453,183 (GRCm39)		probably null	Het
Ncbp3	T	A	11: 72,960,578 (GRCm39)	Y279N	probably damaging	Het
Ncoa6	G	A	2: 155,248,687 (GRCm39)	T1539I	probably benign	Het
Nedd4	G	A	9: 72,647,515 (GRCm39)		probably null	Het
Neil1	A	G	9: 57,054,206 (GRCm39)	V38A	probably damaging	Het
Ngf	T	A	3: 102,427,961 (GRCm39)	F237I	probably damaging	Het
Nol3	A	G	8: 106,005,888 (GRCm39)	Q94R	possibly damaging	Het
Obox1	A	G	7: 15,290,263 (GRCm39)	N202S	probably damaging	Het
Odc1	T	A	12: 17,597,386 (GRCm39)	N29K	possibly damaging	Het
Or2b7	C	T	13: 21,739,658 (GRCm39)	R178H	probably benign	Het
Or2h15	T	C	17: 38,441,508 (GRCm39)	T192A	probably damaging	Het
Or4a69	C	T	2: 89,312,652 (GRCm39)	V276I	probably benign	Het
Or52a20	A	C	7: 103,365,914 (GRCm39)	I38L	probably benign	Het
P2rx7	T	A	5: 122,819,129 (GRCm39)	V517E	probably damaging	Het
Parm1	A	G	5: 91,741,775 (GRCm39)	T48A	possibly damaging	Het
Pcdh9	T	A	14: 94,126,164 (GRCm39)	D2V	possibly damaging	Het
Pgm3	G	T	9: 86,451,378 (GRCm39)	T92N	probably damaging	Het
Plcg2	G	T	8: 118,333,872 (GRCm39)	G882*	probably null	Het
Ptprk	A	T	10: 28,464,928 (GRCm39)	Y1244F	probably damaging	Het
Rere	G	A	4: 150,700,510 (GRCm39)	A1162T	probably damaging	Het
Rfx2	T	C	17: 57,090,747 (GRCm39)	E391G	probably damaging	Het
Sema4c	A	G	1: 36,591,097 (GRCm39)	V414A	probably damaging	Het
Serpinb10	A	T	1: 107,468,681 (GRCm39)	N185I	probably damaging	Het
Shroom3	T	G	5: 93,098,993 (GRCm39)	M1410R	probably benign	Het
Slc13a1	A	T	6: 24,134,356 (GRCm39)	S176T	probably benign	Het
Sntb1	A	T	15: 55,506,198 (GRCm39)	Y458*	probably null	Het
Sorcs1	C	T	19: 50,220,741 (GRCm39)	V570I	probably benign	Het
Sp8	T	A	12: 118,812,805 (GRCm39)	V220E	probably damaging	Het
Spry1	C	T	3: 37,696,868 (GRCm39)	T37M	possibly damaging	Het
Sspo	A	T	6: 48,437,756 (GRCm39)	H1305L	probably benign	Het
Tbc1d22a	A	G	15: 86,381,117 (GRCm39)	D509G	possibly damaging	Het
Tmem108	A	T	9: 103,376,276 (GRCm39)	V391D	possibly damaging	Het
Tmem132d	T	A	5: 128,346,366 (GRCm39)	H52L	possibly damaging	Het
Tmem132d	T	A	5: 128,346,364 (GRCm39)	I53F	probably damaging	Het
Tnnt2	A	T	1: 135,775,496 (GRCm39)	R87*	probably null	Het
Ube3a	A	T	7: 58,893,198 (GRCm39)	M1L	probably benign	Het
Unc79	A	G	12: 103,060,592 (GRCm39)	T1119A	probably damaging	Het
Usf3	A	T	16: 44,039,942 (GRCm39)	H1474L	probably damaging	Het
Vcpip1	G	A	1: 9,817,423 (GRCm39)	T320I	probably damaging	Het
Vmn1r56	A	G	7: 5,199,443 (GRCm39)	L58P	probably damaging	Het
Wdr53	A	T	16: 32,075,796 (GRCm39)	K334*	probably null	Het
Zbtb40	T	A	4: 136,728,241 (GRCm39)	R459W	probably benign	Het
Zfc3h1	T	A	10: 115,246,547 (GRCm39)	L878Q	probably damaging	Het
Zfp286	T	C	11: 62,671,455 (GRCm39)	D206G	probably benign	Het
Zfp46	T	A	4: 136,017,792 (GRCm39)	C209S	probably damaging	Het
Zup1	G	T	10: 33,825,038 (GRCm39)	T148K	probably damaging	Het

Other mutations in Ptpn14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Ptpn14	APN	1	189,554,830 (GRCm39)	missense	probably damaging	1.00
IGL02501:Ptpn14	APN	1	189,582,587 (GRCm39)	missense	probably benign	0.14
IGL03011:Ptpn14	APN	1	189,571,754 (GRCm39)	missense	probably damaging	1.00
jelly	UTSW	1	189,554,872 (GRCm39)	nonsense	probably null
Rubens	UTSW	1	189,564,997 (GRCm39)	critical splice donor site	probably null
R0724:Ptpn14	UTSW	1	189,583,144 (GRCm39)	missense	possibly damaging	0.52
R0791:Ptpn14	UTSW	1	189,568,637 (GRCm39)	splice site	probably benign
R1363:Ptpn14	UTSW	1	189,530,825 (GRCm39)	missense	probably damaging	1.00
R1605:Ptpn14	UTSW	1	189,597,709 (GRCm39)	missense	probably benign	0.00
R1840:Ptpn14	UTSW	1	189,519,048 (GRCm39)	missense	probably damaging	1.00
R1845:Ptpn14	UTSW	1	189,571,699 (GRCm39)	missense	possibly damaging	0.96
R1891:Ptpn14	UTSW	1	189,530,850 (GRCm39)	missense	probably damaging	1.00
R2187:Ptpn14	UTSW	1	189,595,425 (GRCm39)	nonsense	probably null
R2288:Ptpn14	UTSW	1	189,597,695 (GRCm39)	missense	probably damaging	1.00
R3686:Ptpn14	UTSW	1	189,583,596 (GRCm39)	missense	probably damaging	1.00
R3895:Ptpn14	UTSW	1	189,582,743 (GRCm39)	missense	probably benign	0.31
R3898:Ptpn14	UTSW	1	189,582,728 (GRCm39)	missense	probably benign	0.35
R4004:Ptpn14	UTSW	1	189,582,707 (GRCm39)	missense	probably benign	0.00
R4816:Ptpn14	UTSW	1	189,588,997 (GRCm39)	missense	probably damaging	1.00
R4928:Ptpn14	UTSW	1	189,554,839 (GRCm39)	missense	probably damaging	1.00
R4931:Ptpn14	UTSW	1	189,583,474 (GRCm39)	missense	probably benign
R4957:Ptpn14	UTSW	1	189,583,469 (GRCm39)	missense	probably benign	0.02
R5009:Ptpn14	UTSW	1	189,582,731 (GRCm39)	missense	probably benign
R5038:Ptpn14	UTSW	1	189,519,083 (GRCm39)	missense	probably damaging	1.00
R5264:Ptpn14	UTSW	1	189,564,997 (GRCm39)	critical splice donor site	probably null
R5373:Ptpn14	UTSW	1	189,583,160 (GRCm39)	missense	probably benign
R5441:Ptpn14	UTSW	1	189,530,767 (GRCm39)	missense	probably damaging	1.00
R5540:Ptpn14	UTSW	1	189,578,561 (GRCm39)	missense	probably benign	0.05
R5638:Ptpn14	UTSW	1	189,519,038 (GRCm39)	missense	probably damaging	1.00
R5746:Ptpn14	UTSW	1	189,578,610 (GRCm39)	critical splice donor site	probably null
R5872:Ptpn14	UTSW	1	189,583,229 (GRCm39)	missense	probably benign	0.00
R5988:Ptpn14	UTSW	1	189,582,584 (GRCm39)	missense	probably damaging	1.00
R6139:Ptpn14	UTSW	1	189,583,362 (GRCm39)	missense	probably benign	0.01
R6295:Ptpn14	UTSW	1	189,582,997 (GRCm39)	missense	probably damaging	0.99
R6770:Ptpn14	UTSW	1	189,564,970 (GRCm39)	missense	probably damaging	1.00
R7097:Ptpn14	UTSW	1	189,595,595 (GRCm39)	nonsense	probably null
R7320:Ptpn14	UTSW	1	189,564,956 (GRCm39)	missense	probably benign	0.11
R7324:Ptpn14	UTSW	1	189,595,621 (GRCm39)	missense	possibly damaging	0.46
R7599:Ptpn14	UTSW	1	189,582,942 (GRCm39)	missense	probably benign	0.39
R7699:Ptpn14	UTSW	1	189,597,608 (GRCm39)	missense	probably benign	0.08
R7700:Ptpn14	UTSW	1	189,597,608 (GRCm39)	missense	probably benign	0.08
R8379:Ptpn14	UTSW	1	189,565,598 (GRCm39)	missense	possibly damaging	0.95
R8889:Ptpn14	UTSW	1	189,554,872 (GRCm39)	nonsense	probably null
R9659:Ptpn14	UTSW	1	189,587,174 (GRCm39)	missense	probably benign	0.00
R9719:Ptpn14	UTSW	1	189,583,484 (GRCm39)	missense	probably benign	0.00
Z1177:Ptpn14	UTSW	1	189,592,667 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGCACTCCAGAACTAGCC -3'
(R):5'- CGAGCCATGGGGATATTGAG -3'

Sequencing Primer
(F):5'- AACATGCAGCTCCAAGGAG -3'
(R):5'- AGTGACTTCAGTGTCATGGCCTC -3'

Posted On

2016-03-17